#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
KLHL17	339451	broad.mit.edu	37	1	899313	899313	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:899313G>A	ENST00000338591.3	+	9	1476	c.1369G>A	c.(1369-1371)Gac>Aac	p.D457N	PLEKHN1_ENST00000379410.3_5'Flank|PLEKHN1_ENST00000379409.2_5'Flank|PLEKHN1_ENST00000379407.3_5'Flank	NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	457	Interaction with F-actin. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|dendrite cytoplasm (GO:0032839)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein complex scaffold (GO:0032947)			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGAACGCTACGACCCCCTGAC	0.687																																						uc001aca.1		NA																	0					0						c.(1369-1371)GAC>AAC		kelch-like 17							94.0	101.0	99.0					1																	899313		2202	4298	6500	SO:0001583	missense	339451				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold	g.chr1:899313G>A	AY423763	CCDS30550.1	1p36	2013-01-30	2013-01-30		ENSG00000187961	ENSG00000187961		"""Kelch-like"", ""BTB/POZ domain containing"""	24023	protein-coding gene	gene with protein product	"""actinfilin"""		"""kelch-like 17 (Drosophila)"""			12063253	Standard	NM_198317		Approved		uc001aca.2	Q6TDP4	OTTHUMG00000040721	ENST00000338591.3:c.1369G>A	1.37:g.899313G>A	ENSP00000343930:p.Asp457Asn					KLHL17_uc001acc.1_RNA|PLEKHN1_uc001acd.2_5'Flank|PLEKHN1_uc001acf.2_5'Flank|PLEKHN1_uc001ace.2_5'Flank	p.D457N	NM_198317	NP_938073	Q6TDP4	KLH17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	9	1476	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	457			Interaction with F-actin (By similarity).|Kelch 3.		Q5SV94	Missense_Mutation	SNP	ENST00000338591.3	37	c.1369G>A	CCDS30550.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.029454	0.75504	.	.	ENSG00000187961	ENST00000338591;ENST00000455747;ENST00000540863	D	0.86769	-2.17	5.64	5.64	0.86602	Galactose oxidase, beta-propeller (1);	0.087084	0.85682	D	0.000000	D	0.91901	0.7436	L	0.50993	1.605	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.91012	0.4850	10	0.45353	T	0.12	.	19.7115	0.96098	0.0:0.0:1.0:0.0	.	457	Q6TDP4	KLH17_HUMAN	N	457;333;180	ENSP00000343930:D457N	ENSP00000343930:D457N	D	+	1	0	KLHL17	889176	1.000000	0.71417	0.979000	0.43373	0.067000	0.16453	6.202000	0.72131	2.675000	0.91044	0.462000	0.41574	GAC		0.687	KLHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097875.3	NM_198317		32	113	0	0	0	0	32	113				
CDK11B	984	broad.mit.edu	37	1	1573159	1573159	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:1573159G>A	ENST00000407249.3	-	14	1437	c.1438C>T	c.(1438-1440)Ctc>Ttc	p.L480F	CDK11B_ENST00000341832.6_Missense_Mutation_p.L433F|CDK11B_ENST00000317673.7_Missense_Mutation_p.L478F|CDK11B_ENST00000340677.5_Missense_Mutation_p.L467F			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	490	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						TGGGCCTTGAGGATGGTGTTG	0.567																																						uc001agv.1		NA																	0				skin(1)	1						c.(1429-1431)CTC>TTC		cell division cycle 2-like 1 (PITSLRE proteins)							326.0	306.0	313.0					1																	1573159		2109	4223	6332	SO:0001583	missense	984				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr1:1573159G>A	AK000081	CCDS72682.1, CCDS72683.1, CCDS72684.1	1p36.33	2013-09-24	2009-12-16	2009-12-16	ENSG00000248333	ENSG00000248333		"""Cyclin-dependent kinases"""	1729	protein-coding gene	gene with protein product		176873	"""cell division cycle 2-like 1 (PITSLRE proteins)"""	CDC2L1		1774066, 14511641, 19884882	Standard	XM_006711061		Approved	CDK11-p110, CDK11-p58, CDK11-p46	uc001agv.1	P21127	OTTHUMG00000078638	ENST00000407249.3:c.1438C>T	1.37:g.1573159G>A	ENSP00000464036:p.Leu480Phe					CDK11B_uc009vkj.2_Missense_Mutation_p.L134F|CDK11B_uc001ags.1_Missense_Mutation_p.L335F|CDK11B_uc001agt.1_Missense_Mutation_p.L260F|CDK11B_uc001aha.1_Missense_Mutation_p.L443F|CDK11B_uc001agw.1_Missense_Mutation_p.L432F|CDK11B_uc001agy.1_Missense_Mutation_p.L475F|CDK11B_uc001agx.1_Missense_Mutation_p.L466F|CDK11B_uc001agz.1_Missense_Mutation_p.L221F	p.L477F	NM_033486	NP_277021	P21127	CD11B_HUMAN			17	1540	-			490			Protein kinase.		O95265|Q12817|Q12818|Q12819|Q12820|Q12822|Q8N530|Q9NZS5|Q9UBJ0|Q9UBQ1|Q9UBR0|Q9UNY2|Q9UP57|Q9UP58|Q9UP59	Missense_Mutation	SNP	ENST00000407249.3	37	c.1429C>T																																																																																					0.567	CDK11B-204	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001787		39	195	0	0	0	0	39	195				
RPL22	6146	broad.mit.edu	37	1	6253065	6253065	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:6253065A>G	ENST00000234875.4	-	3	205	c.167T>C	c.(166-168)cTt>cCt	p.L56P	RPL22_ENST00000497965.1_Missense_Mutation_p.L23P|RPL22_ENST00000484532.1_Missense_Mutation_p.L23P	NM_000983.3	NP_000974.1	P35268	RL22_HUMAN	ribosomal protein L22	56					alpha-beta T cell differentiation (GO:0046632)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	heparin binding (GO:0008201)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CCCTCCACCAAGGTTCCCAGC	0.468			T	RUNX1	"""AML, CML"""																																	uc001amd.2		NA		Dom	yes		1	1p36.31	6146	T	ribosomal protein L22 (EAP)			L	RUNX1		AML|CML		0					0						c.(166-168)CTT>CCT		ribosomal protein L22 proprotein							113.0	114.0	114.0					1																	6253065		2203	4297	6500	SO:0001583	missense	6146				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|RNA binding|structural constituent of ribosome	g.chr1:6253065A>G	BC058887	CCDS58.1	1p36.31	2011-04-06			ENSG00000116251	ENSG00000116251		"""L ribosomal proteins"""	10315	protein-coding gene	gene with protein product		180474				8395054	Standard	NM_000983		Approved	EAP, L22	uc001amd.3	P35268	OTTHUMG00000000953	ENST00000234875.4:c.167T>C	1.37:g.6253065A>G	ENSP00000346088:p.Leu56Pro					RPL22_uc001ame.2_Missense_Mutation_p.L56P	p.L56P	NM_000983	NP_000974	P35268	RL22_HUMAN		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)	3	213	-	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)	56					B2R495|Q6IBD1	Missense_Mutation	SNP	ENST00000234875.4	37	c.167T>C	CCDS58.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.524301	0.85600	.	.	ENSG00000116251	ENST00000234875	T	0.53640	0.61	4.95	4.95	0.65309	.	0.066897	0.64402	D	0.000011	T	0.78084	0.4228	H	0.96460	3.825	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.80764	0.994;0.918	D	0.85724	0.1327	10	0.87932	D	0	-11.0795	14.9149	0.70789	1.0:0.0:0.0:0.0	.	56;56	Q7Z4W8;P35268	.;RL22_HUMAN	P	56	ENSP00000346088:L56P	ENSP00000346088:L56P	L	-	2	0	RPL22	6175652	1.000000	0.71417	0.947000	0.38551	0.914000	0.54420	9.177000	0.94849	1.986000	0.57962	0.482000	0.46254	CTT		0.468	RPL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002830.1	NM_000983		9	61	0	0	0	0	9	61				
KDM1A	23028	broad.mit.edu	37	1	23385657	23385657	+	Silent	SNP	A	A	G			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:23385657A>G	ENST00000356634.3	+	8	1253	c.1104A>G	c.(1102-1104)caA>caG	p.Q368Q	MIR4419A_ENST00000583845.1_RNA|KDM1A_ENST00000542151.1_Silent_p.Q388Q|KDM1A_ENST00000400181.4_Silent_p.Q388Q|RP1-184J9.2_ENST00000427154.1_RNA	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	368	Demethylase activity.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CCAACGGACAAGCTGTAAGTC	0.383																																						uc001bgi.2		NA																	0				ovary(1)|lung(1)	2						c.(1102-1104)CAA>CAG		lysine-specific histone demethylase 1 isoform b							82.0	69.0	74.0					1																	23385657		2203	4300	6503	SO:0001819	synonymous_variant	23028				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding	g.chr1:23385657A>G	AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487		"""Chromatin-modifying enzymes / K-demethylases"""	29079	protein-coding gene	gene with protein product		609132	"""amine oxidase (flavin containing) domain 2"", ""lysine (K)-specific demethylase 1"""	AOF2, KDM1		9628581, 12493763	Standard	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000356634.3:c.1104A>G	1.37:g.23385657A>G						KDM1A_uc001bgj.2_Silent_p.Q388Q	p.Q368Q	NM_015013	NP_055828	O60341	KDM1A_HUMAN			8	1253	+			368			Demethylase activity.		A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Silent	SNP	ENST00000356634.3	37	c.1104A>G	CCDS30627.1																																																																																				0.383	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008880.3	NM_015013		3	14	0	0	0	0	3	14				
CLIC4	25932	broad.mit.edu	37	1	25153564	25153564	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:25153564A>C	ENST00000374379.4	+	4	569	c.372A>C	c.(370-372)aaA>aaC	p.K124N	CLIC4_ENST00000497755.1_3'UTR	NM_013943.2	NP_039234.1	Q9Y696	CLIC4_HUMAN	chloride intracellular channel 4	124	GST C-terminal.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cell differentiation (GO:0030154)|cellular response to calcium ion (GO:0071277)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|endothelial cell morphogenesis (GO:0001886)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|fertilization (GO:0009566)|keratinocyte differentiation (GO:0030216)|multicellular organism growth (GO:0035264)|negative regulation of cell migration (GO:0030336)|regulation of cytoskeleton organization (GO:0051493)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|vacuolar acidification (GO:0007035)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|microvillus (GO:0005902)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			large_intestine(3)|lung(2)|skin(1)	6		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)		TCTTTGCCAAATTCTCTGCAT	0.348																																						uc001bjo.2		NA																	0					0						c.(370-372)AAA>AAC		chloride intracellular channel 4							96.0	103.0	101.0					1																	25153564		2203	4298	6501	SO:0001583	missense	25932				cellular response to calcium ion|establishment or maintenance of apical/basal cell polarity|keratinocyte differentiation|negative regulation of cell migration|regulation of cytoskeleton organization	actin cytoskeleton|apical part of cell|cell surface|cell-cell junction|centrosome|chloride channel complex|cytoplasmic vesicle membrane|cytosol|microvillus|midbody|mitochondrion|nuclear matrix|perinuclear region of cytoplasm|soluble fraction	voltage-gated chloride channel activity	g.chr1:25153564A>C	AF097330	CCDS256.1	1p	2012-09-26			ENSG00000169504	ENSG00000169504		"""Ion channels / Chloride channels : Intracellular"""	13518	protein-coding gene	gene with protein product		606536				9139710, 10070163	Standard	NM_013943		Approved	DKFZP566G223, CLIC4L, P64H1, H1, huH1, p64H1	uc001bjo.2	Q9Y696	OTTHUMG00000003327	ENST00000374379.4:c.372A>C	1.37:g.25153564A>C	ENSP00000363500:p.Lys124Asn					CLIC4_uc001bjn.2_RNA|CLIC4_uc001bjp.1_Missense_Mutation_p.K104N	p.K124N	NM_013943	NP_039234	Q9Y696	CLIC4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)	4	657	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	124			GST C-terminal.		Q9UFW9|Q9UQJ6	Missense_Mutation	SNP	ENST00000374379.4	37	c.372A>C	CCDS256.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.280920	0.80692	.	.	ENSG00000169504	ENST00000374379;ENST00000444041	D	0.94092	-3.35	5.53	0.551	0.17225	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95947	0.8680	M	0.86953	2.85	0.33363	D	0.572591	D;D	0.69078	0.997;0.996	D;P	0.76071	0.987;0.721	D	0.94946	0.8095	10	0.45353	T	0.12	-16.1083	9.3045	0.37867	0.7164:0.0:0.2836:0.0	.	104;124	B3KTR3;Q9Y696	.;CLIC4_HUMAN	N	124	ENSP00000363500:K124N	ENSP00000363500:K124N	K	+	3	2	CLIC4	25026151	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.232000	0.51302	0.050000	0.15949	0.533000	0.62120	AAA		0.348	CLIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009332.1	NM_013943		30	120	0	0	0	0	30	120				
ELAVL4	1996	broad.mit.edu	37	1	50666796	50666796	+	Silent	SNP	G	G	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:50666796G>T	ENST00000371823.4	+	7	1313	c.1089G>T	c.(1087-1089)ctG>ctT	p.L363L	ELAVL4_ENST00000448907.2_Silent_p.L352L|ELAVL4_ENST00000371827.1_Silent_p.L349L|ELAVL4_ENST00000371819.1_Silent_p.L354L|ELAVL4_ENST00000371821.1_Silent_p.L368L|ELAVL4_ENST00000357083.4_Silent_p.L366L|ELAVL4_ENST00000371824.1_Silent_p.L349L	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	363	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA processing (GO:0006396)		AU-rich element binding (GO:0017091)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						GGTACCGCCTGGGAGACAGAG	0.448																																						uc001csb.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1087-1089)CTG>CTT		ELAV-like 4 isoform 1							48.0	46.0	46.0					1																	50666796		2203	4300	6503	SO:0001819	synonymous_variant	1996				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding	g.chr1:50666796G>T	AY033998	CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1	1p34	2013-10-03	2013-10-03		ENSG00000162374	ENSG00000162374		"""RNA binding motif (RRM) containing"""	3315	protein-coding gene	gene with protein product	"""Hu antigen D"""	168360	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4"""	HUD		8222755	Standard	XM_005270581		Approved	PNEM	uc001csb.2	P26378	OTTHUMG00000007877	ENST00000371823.4:c.1089G>T	1.37:g.50666796G>T						ELAVL4_uc001cry.3_Silent_p.L352L|ELAVL4_uc001crz.3_Silent_p.L349L|ELAVL4_uc001csa.3_Silent_p.L366L|ELAVL4_uc001csc.3_Silent_p.L349L|ELAVL4_uc010omz.1_Silent_p.L354L	p.L363L	NM_021952	NP_068771	P26378	ELAV4_HUMAN			7	1357	+			363			RRM 3.		B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Silent	SNP	ENST00000371823.4	37	c.1089G>T	CCDS553.1																																																																																				0.448	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000021712.1	NM_021952		15	30	1	0	1.15e-07	2.67e-07	15	30				
DEPDC1	55635	broad.mit.edu	37	1	68947901	68947901	+	Silent	SNP	A	A	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:68947901A>C	ENST00000456315.2	-	8	1704	c.1590T>G	c.(1588-1590)gcT>gcG	p.A530A	RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Intron	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	530					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		TGATAATTTCAGCCACTGGTG	0.388																																						uc001dem.3		NA																	0					0						c.(1588-1590)GCT>GCG		DEP domain containing 1 isoform a							210.0	191.0	196.0					1																	68947901		1568	3582	5150	SO:0001819	synonymous_variant	55635				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding	g.chr1:68947901A>C	AK000361	CCDS644.1, CCDS44159.1	1p31.2	2008-08-19			ENSG00000024526	ENSG00000024526			22949	protein-coding gene	gene with protein product		612002					Standard	NM_001114120		Approved	DEP.8, FLJ20354, SDP35, DEPDC1A	uc001dem.4	Q5TB30	OTTHUMG00000009212	ENST00000456315.2:c.1590T>G	1.37:g.68947901A>C						DEPDC1_uc001dej.3_5'UTR|DEPDC1_uc001dek.3_Intron|DEPDC1_uc001del.3_Intron	p.A530A	NM_001114120	NP_001107592	Q5TB30	DEP1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)	8	1707	-			530					A8QXE0|A8QXE1|Q05DU3|Q5TB28|Q9H9I3|Q9NX21|Q9NXZ0	Silent	SNP	ENST00000456315.2	37	c.1590T>G	CCDS44159.1																																																																																				0.388	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025514.2	NM_017779		44	152	0	0	0	0	44	152				
SLC44A5	204962	broad.mit.edu	37	1	75688097	75688097	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:75688097A>C	ENST00000370855.5	-	14	1147	c.1034T>G	c.(1033-1035)tTc>tGc	p.F345C	SLC44A5_ENST00000370859.3_Missense_Mutation_p.F345C|SLC44A5_ENST00000535611.1_Missense_Mutation_p.F215C	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	345					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						ATTCCTGAGGAAGATCAGCAT	0.388																																						uc001dgu.2		NA																	0				ovary(2)|skin(2)	4						c.(1033-1035)TTC>TGC		solute carrier family 44, member 5 isoform A							131.0	116.0	121.0					1																	75688097		2203	4300	6503	SO:0001583	missense	204962					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:75688097A>C	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.1034T>G	1.37:g.75688097A>C	ENSP00000359892:p.Phe345Cys					SLC44A5_uc001dgt.2_Missense_Mutation_p.F345C|SLC44A5_uc001dgs.2_Missense_Mutation_p.F303C|SLC44A5_uc001dgr.2_Missense_Mutation_p.F303C|SLC44A5_uc010oqz.1_Missense_Mutation_p.F384C|SLC44A5_uc010ora.1_Missense_Mutation_p.F339C|SLC44A5_uc010orb.1_Missense_Mutation_p.F215C	p.F345C	NM_152697	NP_689910	Q8NCS7	CTL5_HUMAN			14	1178	-			345			Helical; (Potential).		B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000370855.5	37	c.1034T>G	CCDS667.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.269915	0.80469	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.23950	1.88;1.88;1.88	5.18	4.05	0.47172	.	0.093039	0.85682	D	0.000000	T	0.34337	0.0894	M	0.75777	2.31	0.80722	D	1	D;D;D;D;D	0.55172	0.97;0.97;0.97;0.963;0.963	D;P;D;P;P	0.64776	0.929;0.873;0.929;0.845;0.799	T	0.11131	-1.0600	10	0.37606	T	0.19	-7.8058	11.3898	0.49806	0.9279:0.0:0.0721:0.0	.	339;384;345;345;384	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	C	345;384;345;215;338	ENSP00000359896:F345C;ENSP00000359892:F345C;ENSP00000443090:F215C	ENSP00000359892:F345C	F	-	2	0	SLC44A5	75460685	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	7.427000	0.80284	1.074000	0.40909	0.533000	0.62120	TTC		0.388	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697		30	30	0	0	0	0	30	30				
COL11A1	1301	broad.mit.edu	37	1	103345449	103345449	+	Silent	SNP	T	T	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:103345449T>C	ENST00000370096.3	-	66	5376	c.5064A>G	c.(5062-5064)ggA>ggG	p.G1688G	COL11A1_ENST00000353414.4_Silent_p.G1649G|COL11A1_ENST00000358392.2_Silent_p.G1700G|COL11A1_ENST00000512756.1_Silent_p.G1572G	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1688	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGATGGAATTTCCTTCAACAT	0.388																																						uc001dul.2		NA																	0				ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(5062-5064)GGA>GGG		alpha 1 type XI collagen isoform A							78.0	72.0	74.0					1																	103345449		2203	4300	6503	SO:0001819	synonymous_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103345449T>C	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.5064A>G	1.37:g.103345449T>C						COL11A1_uc001duk.2_Silent_p.G884G|COL11A1_uc001dum.2_Silent_p.G1700G|COL11A1_uc001dun.2_Silent_p.G1649G|COL11A1_uc009weh.2_Silent_p.G1572G	p.G1688G	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	66	5382	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1688			Fibrillar collagen NC1.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	ENST00000370096.3	37	c.5064A>G	CCDS778.1																																																																																				0.388	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		10	17	0	0	0	0	10	17				
SH2D1B	117157	broad.mit.edu	37	1	162368816	162368816	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:162368816T>C	ENST00000367929.2	-	3	369	c.260A>G	c.(259-261)gAa>gGa	p.E87G	SH2D1B_ENST00000359567.3_Intron	NM_053282.4	NP_444512.2	O14796	SH21B_HUMAN	SH2 domain containing 1B	87	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				leukocyte activation involved in immune response (GO:0002366)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of innate immune response (GO:0045089)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated immunity (GO:0002717)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of natural killer cell activation (GO:0032814)	intracellular (GO:0005622)	protein binding, bridging (GO:0030674)			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			ATTTGGTTTTTCAAATTTGGA	0.398																																						uc001gbz.1		NA																	0				pancreas(1)	1						c.(259-261)GAA>GGA		SH2 domain containing 1B							84.0	82.0	83.0					1																	162368816		2203	4300	6503	SO:0001583	missense	117157							g.chr1:162368816T>C	AF484964	CCDS30928.1	1q23.3	2013-02-14			ENSG00000198574	ENSG00000198574		"""SH2 domain containing"""	30416	protein-coding gene	gene with protein product		608510				9000139, 11689425	Standard	NM_053282		Approved	EAT2	uc001gbz.1	O14796	OTTHUMG00000031377	ENST00000367929.2:c.260A>G	1.37:g.162368816T>C	ENSP00000356906:p.Glu87Gly					SH2D1B_uc001gca.1_Intron	p.E87G	NM_053282	NP_444512	O14796	SH21B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.126)		3	382	-	all_hematologic(112;0.115)		87			SH2.		B2RBN6|Q5T0L1|Q8NI18|Q969K9	Missense_Mutation	SNP	ENST00000367929.2	37	c.260A>G	CCDS30928.1	.	.	.	.	.	.	.	.	.	.	T	10.22	1.289554	0.23478	.	.	ENSG00000198574	ENST00000367929	T	0.42131	0.98	4.77	3.6	0.41247	SH2 motif (4);	0.365309	0.23975	N	0.042729	T	0.15565	0.0375	L	0.45137	1.4	0.24129	N	0.995779	B	0.15473	0.013	B	0.12837	0.008	T	0.05716	-1.0868	9	0.37606	T	0.19	-50.2529	7.3521	0.26697	0.0:0.1009:0.0:0.8991	.	87	O14796	SH21B_HUMAN	G	87	ENSP00000356906:E87G	ENSP00000356906:E87G	E	-	2	0	SH2D1B	160635440	0.861000	0.29849	0.019000	0.16419	0.045000	0.14185	1.542000	0.36137	0.791000	0.33826	0.533000	0.62120	GAA		0.398	SH2D1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076794.1	NM_053282		6	64	0	0	0	0	6	64				
ILDR2	387597	broad.mit.edu	37	1	166927307	166927307	+	Silent	SNP	G	G	A	rs143548938		TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:166927307G>A	ENST00000271417.3	-	2	133	c.78C>T	c.(76-78)ccC>ccT	p.P26P	ILDR2_ENST00000469934.2_Silent_p.P26P|ILDR2_ENST00000529387.1_Silent_p.P26P|ILDR2_ENST00000529071.1_Silent_p.P26P|ILDR2_ENST00000526687.1_Silent_p.P26P|ILDR2_ENST00000528703.1_Silent_p.P26P|ILDR2_ENST00000525740.1_Silent_p.P26P	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	26	Ig-like V-type.				cell differentiation (GO:0030154)|homeostasis of number of cells within a tissue (GO:0048873)|insulin secretion (GO:0030073)|pancreas development (GO:0031016)|response to glucose (GO:0009749)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						TCTTCTTGTCGGGCACTGTGA	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		19757	0.001		0.0	False		,,,				2504	0.0					uc001gdx.1		NA																	0				ovary(1)	1						c.(76-78)CCC>CCT		immunoglobulin-like domain containing receptor		G		1,4405	2.1+/-5.4	0,1,2202	149.0	125.0	133.0		78	-11.0	0.1	1	dbSNP_134	133	0,8600		0,0,4300	no	coding-synonymous	ILDR2	NM_199351.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		26/640	166927307	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	387597					integral to membrane		g.chr1:166927307G>A	AF503509	CCDS1256.1	1q24.1	2008-12-18	2008-12-18	2008-12-18	ENSG00000143195	ENSG00000143195			18131	protein-coding gene	gene with protein product	"""LISCH-like"""		"""chromosome 1 open reading frame 32"""	C1orf32			Standard	NM_199351		Approved		uc001gdx.2	Q71H61	OTTHUMG00000034320	ENST00000271417.3:c.78C>T	1.37:g.166927307G>A							p.P26P	NM_199351	NP_955383	Q71H61	ILDR2_HUMAN			2	134	-			26			Ig-like V-type.|Extracellular (Potential).			Silent	SNP	ENST00000271417.3	37	c.78C>T	CCDS1256.1																																																																																				0.522	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082880.2	NM_199351		9	120	0	0	0	0	9	120				
TNN	63923	broad.mit.edu	37	1	175067683	175067683	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:175067683C>A	ENST00000239462.4	+	9	2184	c.2071C>A	c.(2071-2073)Cag>Aag	p.Q691K		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	691	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CGTGTGGGCCCAGAAGGGGGA	0.602																																						uc001gkl.1		NA																	0				large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(2071-2073)CAG>AAG		tenascin N precursor							90.0	81.0	84.0					1																	175067683		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175067683C>A	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2071C>A	1.37:g.175067683C>A	ENSP00000239462:p.Gln691Lys					TNN_uc010pmx.1_Missense_Mutation_p.Q602K	p.Q691K	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	9	2184	+		Breast(1374;0.000962)	691			Fibronectin type-III 5.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.2071C>A	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.197095	0.38806	.	.	ENSG00000120332	ENST00000239462	T	0.57273	0.41	5.15	-1.42	0.08913	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.691628	0.15267	N	0.271478	T	0.54647	0.1871	L	0.49350	1.555	0.19300	N	0.999972	B;B	0.26547	0.152;0.087	B;B	0.39935	0.158;0.314	T	0.56456	-0.7976	10	0.30078	T	0.28	.	19.3262	0.94262	0.0:0.2169:0.7831:0.0	.	691;691	B3KXB6;Q9UQP3	.;TENN_HUMAN	K	691	ENSP00000239462:Q691K	ENSP00000239462:Q691K	Q	+	1	0	TNN	173334306	0.393000	0.25237	0.937000	0.37676	0.918000	0.54935	0.396000	0.20867	-0.021000	0.14009	0.467000	0.42956	CAG		0.602	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		35	33	1	0	7.11e-15	1.7e-14	35	33				
QSOX1	5768	broad.mit.edu	37	1	180135628	180135628	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:180135628T>C	ENST00000367602.3	+	2	342	c.268T>C	c.(268-270)Tgg>Cgg	p.W90R	QSOX1_ENST00000367600.5_Missense_Mutation_p.W90R			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	90	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)	flavin-linked sulfhydryl oxidase activity (GO:0016971)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CCTTTCAGCCTGGAGGCCGGC	0.592																																						uc001gnz.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(268-270)TGG>CGG		quiescin Q6 sulfhydryl oxidase 1 isoform a							72.0	68.0	70.0					1																	180135628		2203	4300	6503	SO:0001583	missense	5768				cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity	g.chr1:180135628T>C	U97276	CCDS1337.1, CCDS30950.1	1q24	2008-02-05	2007-04-23	2007-04-23	ENSG00000116260	ENSG00000116260			9756	protein-coding gene	gene with protein product		603120	"""quiescin Q6"""	QSCN6		9878249, 8396966	Standard	NM_002826		Approved		uc001gnz.3	O00391	OTTHUMG00000035256	ENST00000367602.3:c.268T>C	1.37:g.180135628T>C	ENSP00000356574:p.Trp90Arg					QSOX1_uc001gny.2_Missense_Mutation_p.W90R|QSOX1_uc001goa.2_Missense_Mutation_p.W90R	p.W90R	NM_002826	NP_002817	O00391	QSOX1_HUMAN			2	343	+			90			Thioredoxin.		Q59G29|Q5T2X0|Q8TDL6|Q8WVP4	Missense_Mutation	SNP	ENST00000367602.3	37	c.268T>C	CCDS1337.1	.	.	.	.	.	.	.	.	.	.	T	14.67	2.605911	0.46527	.	.	ENSG00000116260	ENST00000367602;ENST00000367600	T;T	0.16196	2.36;2.36	4.83	4.83	0.62350	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.32010	0.0815	L	0.43646	1.37	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.984;1.0	T	0.03017	-1.1082	10	0.66056	D	0.02	-12.8455	11.0763	0.48034	0.0:0.0:0.0:1.0	.	90;90;90	A8K477;O00391;O00391-2	.;QSOX1_HUMAN;.	R	90	ENSP00000356574:W90R;ENSP00000356572:W90R	ENSP00000356572:W90R	W	+	1	0	QSOX1	178402251	1.000000	0.71417	0.998000	0.56505	0.284000	0.27059	4.938000	0.63519	1.939000	0.56221	0.460000	0.39030	TGG		0.592	QSOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085289.1	NM_002826		3	70	0	0	0	0	3	70				
RGS1	5996	broad.mit.edu	37	1	192548327	192548327	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:192548327A>C	ENST00000367459.3	+	5	571	c.505A>C	c.(505-507)Acg>Ccg	p.T169P		NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	169	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|immune response (GO:0006955)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				ACCAACCCCCACGTGTTTTGA	0.338																																						uc001gsi.1		NA																	0					0						c.(505-507)ACG>CCG		regulator of G-protein signalling 1							81.0	86.0	84.0					1																	192548327		2203	4300	6503	SO:0001583	missense	5996				immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	g.chr1:192548327A>C	AF493925	CCDS1375.2	1q31	2008-02-05	2007-08-14		ENSG00000090104	ENSG00000090104		"""Regulators of G-protein signaling"""	9991	protein-coding gene	gene with protein product		600323	"""regulator of G-protein signalling 1"""	IER1		8241276, 8602223	Standard	NM_002922		Approved	1R20, IR20, BL34	uc001gsi.1	Q08116	OTTHUMG00000035598	ENST00000367459.3:c.505A>C	1.37:g.192548327A>C	ENSP00000356429:p.Thr169Pro						p.T169P	NM_002922	NP_002913	Q08116	RGS1_HUMAN			5	571	+		Breast(1374;0.188)	169			RGS.		B2RDM9|B4DZY0|Q07918|Q9H1W2	Missense_Mutation	SNP	ENST00000367459.3	37	c.505A>C	CCDS1375.2	.	.	.	.	.	.	.	.	.	.	A	13.86	2.363263	0.41902	.	.	ENSG00000090104	ENST00000367459	T	0.02050	4.48	5.68	5.68	0.88126	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.09730	0.0239	M	0.73319	2.225	0.80722	D	1	D	0.64830	0.994	D	0.63192	0.912	T	0.32348	-0.9910	10	0.23302	T	0.38	.	15.0466	0.71833	1.0:0.0:0.0:0.0	.	169	Q08116	RGS1_HUMAN	P	169	ENSP00000356429:T169P	ENSP00000356429:T169P	T	+	1	0	RGS1	190814950	0.001000	0.12720	0.222000	0.23844	0.214000	0.24535	1.087000	0.30865	2.289000	0.77006	0.482000	0.46254	ACG		0.338	RGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086391.1	NM_002922		42	23	0	0	0	0	42	23				
TIMM17A	10440	broad.mit.edu	37	1	201938617	201938617	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:201938617C>T	ENST00000367287.4	+	6	487	c.451C>T	c.(451-453)Ccc>Tcc	p.P151S	TIMM17A_ENST00000482943.1_3'UTR	NM_006335.2	NP_006326.1	Q99595	TI17A_HUMAN	translocase of inner mitochondrial membrane 17 homolog A (yeast)	151					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane presequence translocase complex (GO:0005744)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			kidney(1)|lung(3)|stomach(1)	5						TGCAGAAGACCCCTCCCAGTT	0.363																																						uc001gxc.2		NA																	0					0						c.(451-453)CCC>TCC		translocase of inner mitochondrial membrane 17							132.0	127.0	128.0					1																	201938617		2203	4300	6503	SO:0001583	missense	10440				protein targeting to mitochondrion	integral to membrane|mitochondrial inner membrane presequence translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chr1:201938617C>T	AF106622	CCDS1417.1	1q32.1	2008-05-23			ENSG00000134375	ENSG00000134375			17315	protein-coding gene	gene with protein product		605057				8893850, 10339406	Standard	NM_006335		Approved	TIM17, TIM17A	uc001gxc.3	Q99595	OTTHUMG00000035806	ENST00000367287.4:c.451C>T	1.37:g.201938617C>T	ENSP00000356256:p.Pro151Ser						p.P151S	NM_006335	NP_006326	Q99595	TI17A_HUMAN			6	487	+			151					B2RDM5|Q9BWF5	Missense_Mutation	SNP	ENST00000367287.4	37	c.451C>T	CCDS1417.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.100350	0.37048	.	.	ENSG00000134375	ENST00000367287	T	0.49432	0.78	5.72	4.81	0.61882	.	0.209953	0.51477	N	0.000100	T	0.27832	0.0685	N	0.08118	0	0.58432	D	0.999996	B	0.21606	0.058	B	0.18561	0.022	T	0.08597	-1.0714	10	0.54805	T	0.06	-9.5897	10.6127	0.45432	0.0:0.9115:0.0:0.0885	.	151	Q99595	TI17A_HUMAN	S	151	ENSP00000356256:P151S	ENSP00000356256:P151S	P	+	1	0	TIMM17A	200205240	0.975000	0.34042	0.996000	0.52242	0.273000	0.26683	1.379000	0.34340	1.419000	0.47118	0.655000	0.94253	CCC		0.363	TIMM17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087092.1	NM_006335		51	42	0	0	0	0	51	42				
PROX1	5629	broad.mit.edu	37	1	214184888	214184888	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:214184888C>G	ENST00000366958.4	+	4	2466	c.1858C>G	c.(1858-1860)Ctc>Gtc	p.L620V	PROX1_ENST00000498508.2_Missense_Mutation_p.L620V|PROX1_ENST00000435016.1_Missense_Mutation_p.L620V|PROX1_ENST00000261454.4_Missense_Mutation_p.L620V	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	620					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)		TACCTCTCAGCTCATCAAGTG	0.373																																						uc001hkh.2		NA																	0				ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6						c.(1858-1860)CTC>GTC		prospero homeobox 1							131.0	116.0	122.0					1																	214184888		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.chr1:214184888C>G	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.1858C>G	1.37:g.214184888C>G	ENSP00000355925:p.Leu620Val						p.L620V	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)	4	2130	+			620			Prospero-type homeobox.		A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	c.1858C>G	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.271000	0.80469	.	.	ENSG00000117707	ENST00000541470;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.63	5.63	0.86233	Homeo-prospero domain (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.76919	0.4055	M	0.84948	2.725	0.80722	D	1	D	0.60575	0.988	D	0.70016	0.967	T	0.79327	-0.1849	10	0.72032	D	0.01	-4.5741	20.0401	0.97581	0.0:1.0:0.0:0.0	.	620	Q92786	PROX1_HUMAN	V	192;620;620;620;620	ENSP00000420283:L620V;ENSP00000355925:L620V;ENSP00000400694:L620V;ENSP00000261454:L620V	ENSP00000261454:L620V	L	+	1	0	PROX1	212251511	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.026000	0.70873	2.805000	0.96524	0.655000	0.94253	CTC		0.373	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		3	74	0	0	0	0	3	74				
OR2AK2	391191	broad.mit.edu	37	1	248129000	248129000	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:248129000G>T	ENST00000366480.3	+	1	466	c.367G>T	c.(367-369)Ggt>Tgt	p.G123C	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	123						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CTTGGCCCTTGGTGGAACTGA	0.448																																					Melanoma(45;390 1181 23848 28461 41504)	uc010pzd.1		NA																	0				ovary(1)|breast(1)	2						c.(367-369)GGT>TGT		olfactory receptor, family 2, subfamily AK,							389.0	343.0	359.0					1																	248129000		2203	4300	6503	SO:0001583	missense	391191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248129000G>T	BK004457	CCDS31102.1	1q44	2012-08-09			ENSG00000187080	ENSG00000187080		"""GPCR / Class A : Olfactory receptors"""	19569	protein-coding gene	gene with protein product				OR2AK1P			Standard	NM_001004491		Approved		uc010pzd.2	Q8NG84	OTTHUMG00000040201	ENST00000366480.3:c.367G>T	1.37:g.248129000G>T	ENSP00000355436:p.Gly123Cys					OR2L13_uc001ids.2_Intron	p.G123C	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	367	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		123			Helical; Name=3; (Potential).		B2RND1|Q6IF05	Missense_Mutation	SNP	ENST00000366480.3	37	c.367G>T	CCDS31102.1	.	.	.	.	.	.	.	.	.	.	.	11.97	1.798554	0.31777	.	.	ENSG00000187080	ENST00000366480	T	0.01369	4.97	3.03	1.05	0.20165	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.07188	0.0182	M	0.88105	2.93	0.09310	N	1	D	0.89917	1.0	D	0.68621	0.959	T	0.17349	-1.0372	9	0.56958	D	0.05	.	3.9631	0.09420	0.1981:0.0:0.5855:0.2164	.	123	Q8NG84	O2AK2_HUMAN	C	123	ENSP00000355436:G123C	ENSP00000355436:G123C	G	+	1	0	OR2AK2	246195623	0.000000	0.05858	0.001000	0.08648	0.050000	0.14768	0.101000	0.15251	0.571000	0.29365	0.455000	0.32223	GGT		0.448	OR2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096858.2	NM_001004491		15	218	1	0	1.03e-11	2.42e-11	15	218				
OR2G6	391211	broad.mit.edu	37	1	248685814	248685814	+	Silent	SNP	C	C	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:248685814C>A	ENST00000343414.4	+	1	899	c.867C>A	c.(865-867)atC>atA	p.I289I		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	289						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACCCCATTATCTACACTCTGA	0.443																																						uc001ien.1		NA																	0				ovary(2)|skin(1)	3						c.(865-867)ATC>ATA		olfactory receptor, family 2, subfamily G,							65.0	68.0	67.0					1																	248685814		2203	4300	6503	SO:0001819	synonymous_variant	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685814C>A		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.867C>A	1.37:g.248685814C>A							p.I289I	NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	867	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	289			Helical; Name=7; (Potential).		B2RP33	Silent	SNP	ENST00000343414.4	37	c.867C>A	CCDS31119.1																																																																																				0.443	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		9	60	1	0	3.86e-05	8.54e-05	9	60				
DIP2C	22982	broad.mit.edu	37	10	412284	412284	+	Silent	SNP	C	C	G	rs372064755		TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr10:412284C>G	ENST00000280886.6	-	19	2286	c.2199G>C	c.(2197-2199)ctG>ctC	p.L733L	DIP2C_ENST00000381496.3_Silent_p.L626L|DIP2C_ENST00000540204.1_Silent_p.L54L	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	733						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CACACACACACAGCTCCCCGA	0.542																																						uc001ifp.2		NA																	0				breast(4)|ovary(2)|large_intestine(1)	7						c.(2197-2199)CTG>CTC		DIP2 disco-interacting protein 2 homolog C							178.0	115.0	137.0					10																	412284		2203	4300	6503	SO:0001819	synonymous_variant	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:412284C>G	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.2199G>C	10.37:g.412284C>G						DIP2C_uc009xhi.1_Silent_p.L119L|DIP2C_uc010pzz.1_Silent_p.L54L	p.L733L	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	19	2289	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	733					B4DPI5|Q5SS78	Silent	SNP	ENST00000280886.6	37	c.2199G>C	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	C	1.947	-0.442153	0.04604	.	.	ENSG00000151240	ENST00000421992	.	.	.	5.35	-4.44	0.03557	.	.	.	.	.	T	0.53222	0.1783	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53415	-0.8442	4	.	.	.	-25.1691	9.9476	0.41618	0.1076:0.4399:0.3844:0.0682	.	.	.	.	S	201	.	.	C	-	2	0	DIP2C	402284	0.089000	0.21612	0.786000	0.31890	0.302000	0.27658	-0.591000	0.05753	-0.759000	0.04684	-0.300000	0.09419	TGT		0.542	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		7	44	0	0	0	0	7	44				
KLF6	1316	broad.mit.edu	37	10	3823889	3823889	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr10:3823889C>T	ENST00000497571.1	-	2	880	c.620G>A	c.(619-621)tGc>tAc	p.C207Y	KLF6_ENST00000173785.4_Intron|KLF6_ENST00000542957.1_Missense_Mutation_p.C207Y|KLF6_ENST00000469435.1_Missense_Mutation_p.C207Y	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	207					B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		AACTTTCCTGCAGCCGTTAAA	0.657											OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001iha.2		NA																	0				central_nervous_system(3)|lung(1)	4						c.(619-621)TGC>TAC		Kruppel-like factor 6 isoform A							66.0	56.0	59.0					10																	3823889		2203	4300	6503	SO:0001583	missense	1316				B cell differentiation	nucleus	zinc ion binding	g.chr10:3823889C>T	U51869	CCDS7060.1, CCDS53490.1	10p15	2013-01-08	2004-11-29	2004-12-01	ENSG00000067082	ENSG00000067082		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	2235	protein-coding gene	gene with protein product	"""GC-rich binding factor"""	602053	"""core promoter element binding protein"""	BCD1, ST12, COPEB		9503030, 9685731	Standard	NM_001300		Approved	CPBP, GBF, Zf9, PAC1	uc001iha.3	Q99612	OTTHUMG00000017567	ENST00000497571.1:c.620G>A	10.37:g.3823889C>T	ENSP00000419923:p.Cys207Tyr		OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	614	KLF6_uc010qaj.1_Missense_Mutation_p.C207Y|KLF6_uc010qak.1_Intron|KLF6_uc010qal.1_Intron|KLF6_uc001ihb.2_Missense_Mutation_p.C207Y	p.C207Y	NM_001300	NP_001291	Q99612	KLF6_HUMAN		Colorectal(1;0.238)	2	887	-			207			C2H2-type 1.		B2RE86|B4DDN0|D3DRR1|F5H3M5|Q5VUT7|Q5VUT8|Q9BT79	Missense_Mutation	SNP	ENST00000497571.1	37	c.620G>A	CCDS7060.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.132389	0.77662	.	.	ENSG00000067082	ENST00000497571;ENST00000542957;ENST00000469435	T;D;D	0.86366	2.4;-2.11;-2.11	4.88	4.88	0.63580	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.92896	0.7740	M	0.73217	2.22	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.99	D	0.93821	0.7119	10	0.87932	D	0	.	17.05	0.86516	0.0:1.0:0.0:0.0	.	207;207;207	F5H3M5;Q99612-2;Q99612	.;.;KLF6_HUMAN	Y	207	ENSP00000419923:C207Y;ENSP00000445301:C207Y;ENSP00000419079:C207Y	ENSP00000419079:C207Y	C	-	2	0	KLF6	3813889	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.711000	0.84669	2.253000	0.74438	0.462000	0.41574	TGC		0.657	KLF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046495.1			23	43	0	0	0	0	23	43				
FAM208B	54906	broad.mit.edu	37	10	5789368	5789368	+	Silent	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr10:5789368G>A	ENST00000328090.5	+	15	4609	c.3984G>A	c.(3982-3984)gaG>gaA	p.E1328E		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1328																	AACCGGAAGAGGTGGCTCTCA	0.453																																						uc001iij.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(3982-3984)GAG>GAA		hypothetical protein LOC54906							126.0	130.0	128.0					10																	5789368		1866	4091	5957	SO:0001819	synonymous_variant	54906							g.chr10:5789368G>A	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.3984G>A	10.37:g.5789368G>A						C10orf18_uc001iik.2_Silent_p.E172E	p.E1328E	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN			15	4609	+			1328					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Silent	SNP	ENST00000328090.5	37	c.3984G>A	CCDS41485.1																																																																																				0.453	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		68	140	0	0	0	0	68	140				
PHYH	5264	broad.mit.edu	37	10	13337587	13337587	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr10:13337587C>A	ENST00000263038.4	-	3	212	c.154G>T	c.(154-156)Gtt>Ttt	p.V52F	PHYH_ENST00000396920.3_Missense_Mutation_p.V33F|PHYH_ENST00000396913.2_5'UTR	NM_006214.3	NP_006205.1	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	52					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|isoprenoid metabolic process (GO:0006720)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|electron carrier activity (GO:0009055)|L-ascorbic acid binding (GO:0031418)|metal ion binding (GO:0046872)|phytanoyl-CoA dioxygenase activity (GO:0048244)			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	AGGGTTAGAACGTTATTATCC	0.348																																						uc001imf.2		NA																	0					0						c.(154-156)GTT>TTT		phytanoyl-CoA 2-hydroxylase isoform a precursor	Antihemophilic Factor(DB00025)|Vitamin C(DB00126)						69.0	71.0	70.0					10																	13337587		2202	4299	6501	SO:0001583	missense	5264				fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding	g.chr10:13337587C>A		CCDS7097.1, CCDS41489.1	10p13	2010-04-27	2006-01-09		ENSG00000107537	ENSG00000107537	1.14.11.18		8940	protein-coding gene	gene with protein product	"""Refsum disease"", ""phytanoyl-CoA dioxygenase"""	602026	"""phytanoyl-CoA hydroxylase (Refsum disease)"", ""phytanoyl-CoA hydroxylase"""			9326939	Standard	XM_005252469		Approved	PAHX, RD, PHYH1	uc001imf.3	O14832	OTTHUMG00000017693	ENST00000263038.4:c.154G>T	10.37:g.13337587C>A	ENSP00000263038:p.Val52Phe					PHYH_uc001ime.2_5'UTR|PHYH_uc001img.2_Missense_Mutation_p.V33F	p.V52F	NM_006214	NP_006205	O14832	PAHX_HUMAN			3	242	-		Ovarian(717;0.0448)	52					A8MTS8|B1ALH5	Missense_Mutation	SNP	ENST00000263038.4	37	c.154G>T	CCDS7097.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.777555	0.31502	.	.	ENSG00000107537	ENST00000263038;ENST00000396920;ENST00000479604	D;D;D	0.90732	-2.72;-2.72;-2.72	5.67	1.58	0.23477	.	0.390358	0.26605	N	0.023443	D	0.86602	0.5972	M	0.66939	2.045	0.26181	N	0.979724	B;B	0.29136	0.112;0.234	B;B	0.30782	0.055;0.12	T	0.76694	-0.2865	10	0.40728	T	0.16	-13.1082	5.5067	0.16858	0.0:0.4062:0.2835:0.3103	.	33;52	B1ALH6;O14832	.;PAHX_HUMAN	F	52;33;52	ENSP00000263038:V52F;ENSP00000380126:V33F;ENSP00000420117:V52F	ENSP00000263038:V52F	V	-	1	0	PHYH	13377593	0.002000	0.14202	0.118000	0.21660	0.929000	0.56500	-0.038000	0.12144	0.341000	0.23771	0.557000	0.71058	GTT		0.348	PHYH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046845.2			11	31	1	0	3.86e-05	8.54e-05	11	31				
ZNF485	220992	broad.mit.edu	37	10	44111790	44111790	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr10:44111790C>T	ENST00000361807.3	+	5	493	c.299C>T	c.(298-300)tCt>tTt	p.S100F	ZNF485_ENST00000374435.3_Missense_Mutation_p.S100F|ZNF485_ENST00000374437.2_Missense_Mutation_p.S9F	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	100					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						CAAAGCACTTCTGAAGCATCT	0.408																																						uc010qfc.1		NA																	0					0						c.(298-300)TCT>TTT		zinc finger protein 485							60.0	63.0	62.0					10																	44111790		2203	4300	6503	SO:0001583	missense	220992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:44111790C>T	AK074679	CCDS7205.2	10q11.21	2013-01-08			ENSG00000198298	ENSG00000198298		"""Zinc fingers, C2H2-type"", ""-"""	23440	protein-coding gene	gene with protein product							Standard	NM_145312		Approved		uc010qfc.2	Q8NCK3	OTTHUMG00000018040	ENST00000361807.3:c.299C>T	10.37:g.44111790C>T	ENSP00000354694:p.Ser100Phe					ZNF485_uc010qfd.1_Missense_Mutation_p.S9F	p.S100F	NM_145312	NP_660355	Q8NCK3	ZN485_HUMAN			5	493	+			100					B4DSE6|Q96CL0	Missense_Mutation	SNP	ENST00000361807.3	37	c.299C>T	CCDS7205.2	.	.	.	.	.	.	.	.	.	.	C	11.07	1.530322	0.27387	.	.	ENSG00000198298	ENST00000361807;ENST00000374437;ENST00000430885;ENST00000374435	T;T;T;T	0.06687	3.47;3.27;5.82;3.47	2.67	2.67	0.31697	.	.	.	.	.	T	0.13543	0.0328	L	0.39147	1.195	0.09310	N	1	D	0.69078	0.997	P	0.62089	0.898	T	0.17379	-1.0371	9	0.15066	T	0.55	.	7.646	0.28321	0.0:0.7355:0.2645:0.0	.	100	Q8NCK3	ZN485_HUMAN	F	100;9;100;100	ENSP00000354694:S100F;ENSP00000363560:S9F;ENSP00000393570:S100F;ENSP00000363558:S100F	ENSP00000354694:S100F	S	+	2	0	ZNF485	43431796	0.004000	0.15560	0.009000	0.14445	0.002000	0.02628	0.878000	0.28126	1.795000	0.52594	0.561000	0.74099	TCT		0.408	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047719.2	NM_145312		7	36	0	0	0	0	7	36				
PCDH15	65217	broad.mit.edu	37	10	56287615	56287615	+	Silent	SNP	T	T	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr10:56287615T>C	ENST00000320301.6	-	3	508	c.114A>G	c.(112-114)ggA>ggG	p.G38G	PCDH15_ENST00000437009.1_Silent_p.G38G|PCDH15_ENST00000395440.1_Silent_p.G38G|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000414778.1_Silent_p.G43G|PCDH15_ENST00000395430.1_Silent_p.G38G|PCDH15_ENST00000395432.2_Silent_p.G38G|PCDH15_ENST00000395438.1_Silent_p.G38G|PCDH15_ENST00000373955.1_Silent_p.G38G|PCDH15_ENST00000395433.1_Intron|PCDH15_ENST00000373965.2_Silent_p.G38G|PCDH15_ENST00000395446.1_Silent_p.G38G|PCDH15_ENST00000395442.1_Silent_p.G38G|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395445.1_Silent_p.G38G|PCDH15_ENST00000361849.3_Silent_p.G38G|RP11-257I14.1_ENST00000422842.1_RNA	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	38					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TAGCTGGTGGTCCTCCCCTAG	0.348										HNSCC(58;0.16)																												uc001jju.1		NA																	0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(112-114)GGA>GGG		protocadherin 15 isoform CD1-4 precursor							84.0	85.0	85.0					10																	56287615		2203	4299	6502	SO:0001819	synonymous_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:56287615T>C	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.114A>G	10.37:g.56287615T>C		HNSCC(58;0.16)				PCDH15_uc010qhq.1_Silent_p.G43G|PCDH15_uc010qhr.1_Silent_p.G38G|PCDH15_uc010qhs.1_Silent_p.G43G|PCDH15_uc010qht.1_Silent_p.G38G|PCDH15_uc010qhu.1_Silent_p.G38G|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Silent_p.G38G|PCDH15_uc010qhw.1_Silent_p.G38G|PCDH15_uc010qhx.1_Silent_p.G38G|PCDH15_uc010qhy.1_Silent_p.G43G|PCDH15_uc010qhz.1_Silent_p.G38G|PCDH15_uc010qia.1_Intron|PCDH15_uc010qib.1_Intron|PCDH15_uc001jjw.2_Silent_p.G38G	p.G38G	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			3	509	-		Melanoma(3;0.117)|Lung SC(717;0.238)	38			Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	c.114A>G	CCDS7248.1																																																																																				0.348	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		22	22	0	0	0	0	22	22				
ANK3	288	broad.mit.edu	37	10	61832598	61832598	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr10:61832598G>A	ENST00000280772.2	-	37	8232	c.8041C>T	c.(8041-8043)Cag>Tag	p.Q2681*	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2681					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCCTCAGTCTGTTGGGAGAGA	0.542																																						uc001jky.2		NA																	0				skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						c.(8041-8043)CAG>TAG		ankyrin 3 isoform 1							93.0	86.0	89.0					10																	61832598		2203	4300	6503	SO:0001587	stop_gained	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61832598G>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.8041C>T	10.37:g.61832598G>A	ENSP00000280772:p.Gln2681*					ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	p.Q2681*	NM_020987	NP_066267	Q12955	ANK3_HUMAN			37	8233	-			2681					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Nonsense_Mutation	SNP	ENST00000280772.2	37	c.8041C>T	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	50	16.259921	0.99859	.	.	ENSG00000151150	ENST00000280772	.	.	.	5.83	5.83	0.93111	.	0.465346	0.16095	N	0.229854	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	18.3042	0.90175	0.0:0.0:1.0:0.0	.	.	.	.	X	2681	.	ENSP00000280772:Q2681X	Q	-	1	0	ANK3	61502604	0.801000	0.28930	0.451000	0.26982	0.631000	0.37964	2.284000	0.43478	2.759000	0.94783	0.561000	0.74099	CAG		0.542	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		24	44	0	0	0	0	24	44				
CDHR1	92211	broad.mit.edu	37	10	85964326	85964326	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr10:85964326G>A	ENST00000372117.3	+	9	930	c.827G>A	c.(826-828)gGc>gAc	p.G276D	CDHR1_ENST00000332904.3_Missense_Mutation_p.G276D|CDHR1_ENST00000440770.2_Missense_Mutation_p.G35D	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	276	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GGAGACCGGGGCAAACCCAAT	0.577																																						uc001kcv.2		NA																	0				ovary(1)	1						c.(826-828)GGC>GAC		protocadherin 21 precursor							125.0	119.0	121.0					10																	85964326		2203	4300	6503	SO:0001583	missense	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85964326G>A	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.827G>A	10.37:g.85964326G>A	ENSP00000361189:p.Gly276Asp					CDHR1_uc001kcw.2_Missense_Mutation_p.G276D|CDHR1_uc009xst.2_Missense_Mutation_p.G35D	p.G276D	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN			9	827	+			276			Cadherin 3.|Extracellular (Potential).		Q69YZ8|Q8IXY5	Missense_Mutation	SNP	ENST00000372117.3	37	c.827G>A	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828739	0.71258	.	.	ENSG00000148600	ENST00000332904;ENST00000372117;ENST00000440770	T;T;T	0.65549	-0.16;-0.16;0.79	5.48	5.48	0.80851	Cadherin (4);Cadherin-like (1);	0.048554	0.85682	D	0.000000	T	0.75824	0.3902	M	0.76328	2.33	0.80722	D	1	B;P;D	0.54964	0.235;0.926;0.969	B;P;P	0.57502	0.146;0.589;0.822	T	0.78303	-0.2256	10	0.62326	D	0.03	-25.6976	16.8514	0.85995	0.0:0.0:1.0:0.0	.	35;276;276	E7EN47;Q96JP9-2;Q96JP9	.;.;CDHR1_HUMAN	D	276;276;35	ENSP00000331063:G276D;ENSP00000361189:G276D;ENSP00000415980:G35D	ENSP00000331063:G276D	G	+	2	0	CDHR1	85954306	1.000000	0.71417	1.000000	0.80357	0.416000	0.31233	7.077000	0.76814	2.571000	0.86741	0.561000	0.74099	GGC		0.577	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		31	43	0	0	0	0	31	43				
GRID1	2894	broad.mit.edu	37	10	87614311	87614311	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr10:87614311A>T	ENST00000327946.7	-	8	1260	c.1175T>A	c.(1174-1176)gTc>gAc	p.V392D		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	392					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						TTCAAACTGGACATAGGGATT	0.493										Multiple Myeloma(13;0.14)																												uc001kdl.1		NA																	0				ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10						c.(1174-1176)GTC>GAC		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						146.0	129.0	135.0					10																	87614311		2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87614311A>T	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.1175T>A	10.37:g.87614311A>T	ENSP00000330148:p.Val392Asp	Multiple Myeloma(13;0.14)				GRID1_uc009xsu.1_RNA	p.V392D	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN			8	1276	-			392			Extracellular (Potential).		B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.1175T>A	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.755512	0.89843	.	.	ENSG00000182771	ENST00000327946	D	0.82619	-1.63	5.92	5.92	0.95590	Extracellular ligand-binding receptor (1);	0.162750	0.38605	N	0.001638	D	0.89497	0.6732	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90380	0.4387	10	0.87932	D	0	.	15.5459	0.76101	1.0:0.0:0.0:0.0	.	392	Q9ULK0	GRID1_HUMAN	D	392	ENSP00000330148:V392D	ENSP00000330148:V392D	V	-	2	0	GRID1	87604291	1.000000	0.71417	0.976000	0.42696	0.957000	0.61999	9.302000	0.96175	2.263000	0.75096	0.533000	0.62120	GTC		0.493	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		11	48	0	0	0	0	11	48				
GBF1	8729	broad.mit.edu	37	10	104136823	104136823	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr10:104136823G>A	ENST00000369983.3	+	33	4677	c.4417G>A	c.(4417-4419)Ggg>Agg	p.G1473R		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1473					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.G1473R(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CTCTCGGGGCGGGCAGAGTGA	0.532																																						uc001kux.1		NA																	1	Substitution - Missense(1)		endometrium(1)	ovary(1)|central_nervous_system(1)	2						c.(4417-4419)GGG>AGG		golgi-specific brefeldin A resistant guanine							130.0	127.0	128.0					10																	104136823		2203	4300	6503	SO:0001583	missense	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104136823G>A	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.4417G>A	10.37:g.104136823G>A	ENSP00000359000:p.Gly1473Arg					GBF1_uc001kuy.1_Missense_Mutation_p.G1473R|GBF1_uc001kuz.1_Missense_Mutation_p.G1474R	p.G1473R	NM_004193	NP_004184	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	33	4657	+		Colorectal(252;0.0236)	1473					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	c.4417G>A	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.309645	0.23821	.	.	ENSG00000107862	ENST00000369983	T	0.09630	2.96	4.96	4.96	0.65561	.	0.363033	0.27544	N	0.018897	T	0.06554	0.0168	L	0.42245	1.32	0.31694	N	0.641567	P;P;P	0.38420	0.585;0.513;0.63	B;B;B	0.26310	0.05;0.068;0.067	T	0.08827	-1.0703	10	0.18710	T	0.47	-8.8089	5.7265	0.18017	0.0991:0.0:0.705:0.1959	.	1473;1473;1473	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	R	1473	ENSP00000359000:G1473R	ENSP00000359000:G1473R	G	+	1	0	GBF1	104126813	0.827000	0.29292	0.728000	0.30774	0.395000	0.30598	2.287000	0.43505	2.564000	0.86499	0.561000	0.74099	GGG		0.532	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			55	71	0	0	0	0	55	71				
OR51E2	81285	broad.mit.edu	37	11	4703255	4703255	+	Silent	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr11:4703255G>A	ENST00000396950.3	-	2	926	c.687C>T	c.(685-687)tcC>tcT	p.S229S		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	229					cellular response to fatty acid (GO:0071398)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|positive regulation of blood pressure (GO:0045777)|positive regulation of renin secretion into blood stream (GO:1900135)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|signaling receptor activity (GO:0038023)|steroid hormone receptor activity (GO:0003707)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		GCTCTGACTTGGAAGGCAGTT	0.498																																						uc001lzk.2		NA																	0				lung(3)|ovary(2)	5						c.(685-687)TCC>TCT		olfactory receptor, family 51, subfamily E,							102.0	88.0	93.0					11																	4703255		2201	4298	6499	SO:0001819	synonymous_variant	81285				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4703255G>A	AY033942	CCDS7751.1	11p15	2012-08-09			ENSG00000167332	ENSG00000167332		"""GPCR / Class A : Olfactory receptors"""	15195	protein-coding gene	gene with protein product		611268				11118034	Standard	NM_030774		Approved	PSGR	uc001lzk.2	Q9H255	OTTHUMG00000133362	ENST00000396950.3:c.687C>T	11.37:g.4703255G>A							p.S229S	NM_030774	NP_110401	Q9H255	O51E2_HUMAN		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)	2	931	-		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	229			Cytoplasmic (Potential).		B2RA63|Q6IF94	Silent	SNP	ENST00000396950.3	37	c.687C>T	CCDS7751.1																																																																																				0.498	OR51E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257198.1	NM_030774		16	49	0	0	0	0	16	49				
OR51I2	390064	broad.mit.edu	37	11	5474810	5474810	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr11:5474810T>G	ENST00000341449.2	+	1	173	c.92T>G	c.(91-93)cTc>cGc	p.L31R	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	31					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCAGGGCCCCTCTGCGTGATG	0.562																																						uc010qzf.1		NA																	0				ovary(2)|skin(2)	4						c.(91-93)CTC>CGC		olfactory receptor, family 51, subfamily I,							109.0	93.0	98.0					11																	5474810		2201	4297	6498	SO:0001583	missense	390064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5474810T>G	BK004381	CCDS31383.1	11p15.4	2012-08-09			ENSG00000187918	ENSG00000187918		"""GPCR / Class A : Olfactory receptors"""	15201	protein-coding gene	gene with protein product							Standard	NM_001004754		Approved		uc010qzf.2	Q9H344	OTTHUMG00000066902	ENST00000341449.2:c.92T>G	11.37:g.5474810T>G	ENSP00000341987:p.Leu31Arg					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.L31R	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	92	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	31			Helical; Name=1; (Potential).		Q6IF81	Missense_Mutation	SNP	ENST00000341449.2	37	c.92T>G	CCDS31383.1	.	.	.	.	.	.	.	.	.	.	T	16.97	3.267503	0.59540	.	.	ENSG00000187918	ENST00000341449	T	0.00406	7.55	5.58	5.58	0.84498	.	0.104168	0.43416	D	0.000575	T	0.01592	0.0051	M	0.92604	3.325	0.41280	D	0.986907	D	0.71674	0.998	D	0.64042	0.921	T	0.44817	-0.9303	10	0.87932	D	0	.	14.7227	0.69320	0.0:0.0:0.0:1.0	.	31	Q9H344	O51I2_HUMAN	R	31	ENSP00000341987:L31R	ENSP00000341987:L31R	L	+	2	0	OR51I2	5431386	1.000000	0.71417	0.991000	0.47740	0.321000	0.28281	5.476000	0.66793	2.343000	0.79666	0.533000	0.62120	CTC		0.562	OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143385.1	NM_001004754		5	43	0	0	0	0	5	43				
PLEKHA7	144100	broad.mit.edu	37	11	17035570	17035570	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr11:17035570C>T	ENST00000355661.3	-	3	197	c.187G>A	c.(187-189)Ggc>Agc	p.G63S	PLEKHA7_ENST00000448080.2_Missense_Mutation_p.G63S|OR7E14P_ENST00000530490.1_RNA|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.G63S			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	63	WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TCCGTGAAGCCCTCCTCCCAG	0.751																																						uc001mmo.2		NA																	0				skin(2)|central_nervous_system(1)	3						c.(187-189)GGC>AGC		pleckstrin homology domain containing, family A							9.0	12.0	11.0					11																	17035570		2030	3954	5984	SO:0001583	missense	144100				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	g.chr11:17035570C>T	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"""Pleckstrin homology (PH) domain containing"""	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.187G>A	11.37:g.17035570C>T	ENSP00000347883:p.Gly63Ser					PLEKHA7_uc010rcu.1_Missense_Mutation_p.G63S	p.G63S	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN			3	202	-			63			WW 2.		B4DK33|B4DWC3|Q86VZ7	Missense_Mutation	SNP	ENST00000355661.3	37	c.187G>A	CCDS31434.1	.	.	.	.	.	.	.	.	.	.	C	33	5.278259	0.95459	.	.	ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080	T;T;T	0.06687	3.27;3.28;3.28	3.54	3.54	0.40534	WW/Rsp5/WWP (5);	0.000000	0.64402	U	0.000006	T	0.10723	0.0262	L	0.28504	0.86	0.44042	D	0.996774	D;P	0.59767	0.986;0.952	P;B	0.53266	0.722;0.417	T	0.05852	-1.0860	10	0.52906	T	0.07	-8.0033	8.7854	0.34818	0.0:0.8914:0.0:0.1086	.	63;63	E9PKC0;Q6IQ23	.;PKHA7_HUMAN	S	63	ENSP00000435389:G63S;ENSP00000347883:G63S;ENSP00000416895:G63S	ENSP00000347883:G63S	G	-	1	0	PLEKHA7	16992146	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.437000	0.59955	1.519000	0.48950	0.455000	0.32223	GGC		0.751	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058		2	1	0	0	0	0	2	1				
PAX6	5080	broad.mit.edu	37	11	31823109	31823109	+	Splice_Site	SNP	G	G	T	rs121907928		TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr11:31823109G>T	ENST00000379132.3	-	5	637	c.357C>A	c.(355-357)agC>agA	p.S119R	PAX6_ENST00000379129.2_Splice_Site_p.S133R|PAX6_ENST00000533156.1_5'Flank|PAX6_ENST00000241001.8_Splice_Site_p.S119R|PAX6_ENST00000379123.5_Splice_Site_p.S119R|PAX6_ENST00000379111.2_Splice_Site_p.S119R|PAX6_ENST00000379115.4_Splice_Site_p.S133R|PAX6_ENST00000419022.1_Splice_Site_p.S133R|PAX6_ENST00000379107.2_Splice_Site_p.S133R			P26367	PAX6_HUMAN	paired box 6	119	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.		S -> R (in AN). {ECO:0000269|PubMed:11553050, ECO:0000269|Ref.25}.		astrocyte differentiation (GO:0048708)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|cerebral cortex regionalization (GO:0021796)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|cornea development in camera-type eye (GO:0061303)|dorsal/ventral axis specification (GO:0009950)|embryonic camera-type eye morphogenesis (GO:0048596)|eye development (GO:0001654)|eye photoreceptor cell development (GO:0042462)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain-midbrain boundary formation (GO:0021905)|glucose homeostasis (GO:0042593)|hindbrain development (GO:0030902)|iris morphogenesis (GO:0061072)|keratinocyte differentiation (GO:0030216)|lacrimal gland development (GO:0032808)|lens development in camera-type eye (GO:0002088)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|neuron migration (GO:0001764)|oligodendrocyte cell fate specification (GO:0021778)|organ morphogenesis (GO:0009887)|pancreatic A cell development (GO:0003322)|pituitary gland development (GO:0021983)|positive regulation of cell fate specification (GO:0042660)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of gene expression (GO:0010628)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to organelle (GO:0033365)|protein ubiquitination (GO:0016567)|regulation of cell migration (GO:0030334)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment (GO:0021918)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|salivary gland morphogenesis (GO:0007435)|signal transduction involved in regulation of gene expression (GO:0023019)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell differentiation (GO:0003309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)	p.S133S(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					ATGAACTTACGCTTGGTATGT	0.512									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation																													uc001mtd.3		NA																	1	Substitution - coding silent(1)		large_intestine(1)	lung(4)|ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	9	GRCh37	CD082176|CI992573|CM013024|CM993965	PAX6	D|I|M	rs121907928	c.(355-357)AGC>AGA		paired box gene 6 isoform a							72.0	69.0	70.0					11																	31823109		2202	4299	6501	SO:0001630	splice_region_variant	5080	Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation	Familial Cancer Database	WAGR syndrome	blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity	g.chr11:31823109G>T	AY707088	CCDS31451.1, CCDS31452.1	11p13	2014-09-17	2007-07-12		ENSG00000007372	ENSG00000007372		"""Paired boxes"", ""Homeoboxes / PRD class"""	8620	protein-coding gene	gene with protein product	"""aniridia, keratitis"""	607108	"""paired box gene 6 (aniridia, keratitis)"""	AN2		1302030	Standard	NM_001127612		Approved	D11S812E, AN, WAGR	uc021qfm.1	P26367	OTTHUMG00000041447	ENST00000379132.3:c.357+1C>A	11.37:g.31823109G>T						PAX6_uc001mte.3_Missense_Mutation_p.S119R|PAX6_uc001mtg.3_Missense_Mutation_p.S133R|PAX6_uc001mtf.3_Missense_Mutation_p.S119R|PAX6_uc001mth.3_Missense_Mutation_p.S119R|PAX6_uc009yjr.2_Missense_Mutation_p.S119R	p.S119R	NM_001127612	NP_001121084	P26367	PAX6_HUMAN			5	1247	-	Lung SC(675;0.225)		119		S -> R (in AN).	Paired.		Q6N006|Q99413	Missense_Mutation	SNP	ENST00000379132.3	37	c.357C>A	CCDS31451.1	.	.	.	.	.	.	.	.	.	.	A	16.16	3.045067	0.55110	.	.	ENSG00000007372	ENST00000419022;ENST00000379132;ENST00000379129;ENST00000379107;ENST00000241001;ENST00000379115;ENST00000379111;ENST00000379123;ENST00000379109;ENST00000533333	D;D;D;D;D;D;D;D;D;D	0.99656	-6.31;-6.31;-6.31;-6.31;-6.31;-6.31;-6.31;-6.31;-6.31;-6.25	5.35	4.01	0.46588	Paired box protein, N-terminal (3);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.150585	0.85682	D	0.000000	D	0.99551	0.9839	M	0.86740	2.835	0.80722	A	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99497	1.0952	9	0.87932	D	0	.	9.9083	0.41390	0.7834:0.0:0.2166:0.0	.	133;119	F1T0F8;P26367	.;PAX6_HUMAN	R	133;119;133;133;119;133;119;119;119;74	ENSP00000404100:S133R;ENSP00000368427:S119R;ENSP00000368424:S133R;ENSP00000368401:S133R;ENSP00000241001:S119R;ENSP00000368410:S133R;ENSP00000368406:S119R;ENSP00000368418:S119R;ENSP00000368403:S119R;ENSP00000451372:S74R	ENSP00000241001:S119R	S	-	3	2	PAX6	31779685	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	2.988000	0.49386	0.860000	0.35481	-0.269000	0.10298	AGC		0.512	PAX6-008	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000099293.4	NM_001604	Missense_Mutation	10	35	1	0	2.18e-05	4.87e-05	10	35				
DEPDC7	91614	broad.mit.edu	37	11	33054913	33054913	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr11:33054913C>T	ENST00000241051.3	+	9	1540	c.1448C>T	c.(1447-1449)tCa>tTa	p.S483L	DEPDC7_ENST00000311388.3_Missense_Mutation_p.S474L	NM_001077242.1	NP_001070710.1	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	483					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						GATGAGGATTCAAAACTTTCT	0.338																																						uc001mub.2		NA																	0				ovary(1)|skin(1)	2						c.(1447-1449)TCA>TTA		novel 58.3 KDA protein isoform 1							75.0	73.0	74.0					11																	33054913		1806	4061	5867	SO:0001583	missense	91614				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:33054913C>T		CCDS41632.1, CCDS41633.1	11p13	2006-03-24			ENSG00000121690	ENSG00000121690			29899	protein-coding gene	gene with protein product		612294				10568747	Standard	NM_001077242		Approved		uc001mub.3	Q96QD5	OTTHUMG00000166242	ENST00000241051.3:c.1448C>T	11.37:g.33054913C>T	ENSP00000241051:p.Ser483Leu					DEPDC7_uc001muc.2_Missense_Mutation_p.S474L	p.S483L	NM_001077242	NP_001070710	Q96QD5	DEPD7_HUMAN			9	1540	+			483					G5E941|Q8N602|Q8NCU9|Q9UGK5	Missense_Mutation	SNP	ENST00000241051.3	37	c.1448C>T	CCDS41632.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.505839	0.64410	.	.	ENSG00000121690	ENST00000241051;ENST00000311388	T;T	0.69175	-0.38;-0.38	5.13	5.13	0.70059	.	0.197774	0.46145	D	0.000316	T	0.67021	0.2849	M	0.73598	2.24	0.52501	D	0.999954	P;B	0.36282	0.546;0.181	B;B	0.32980	0.156;0.054	T	0.67601	-0.5629	10	0.29301	T	0.29	-16.7019	18.9364	0.92588	0.0:1.0:0.0:0.0	.	474;483	G5E941;Q96QD5	.;DEPD7_HUMAN	L	483;474	ENSP00000241051:S483L;ENSP00000308971:S474L	ENSP00000241051:S483L	S	+	2	0	DEPDC7	33011489	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.262000	0.78410	2.540000	0.85666	0.460000	0.39030	TCA		0.338	DEPDC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388655.1	NM_139160		11	39	0	0	0	0	11	39				
PAMR1	25891	broad.mit.edu	37	11	35496243	35496243	+	Silent	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr11:35496243G>A	ENST00000378880.2	-	4	874	c.429C>T	c.(427-429)agC>agT	p.S143S	PAMR1_ENST00000378878.3_Intron|PAMR1_ENST00000278360.3_Silent_p.S143S|PAMR1_ENST00000532848.1_Silent_p.S103S|PAMR1_ENST00000534803.1_5'UTR	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	143	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						TTAGGGGATAGCTTTCCAACA	0.463																																						uc001mwg.2		NA																	0				ovary(2)	2						c.(427-429)AGC>AGT		regeneration associated muscle protease isoform							101.0	95.0	97.0					11																	35496243		2202	4298	6500	SO:0001819	synonymous_variant	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35496243G>A		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.429C>T	11.37:g.35496243G>A						PAMR1_uc001mwf.2_Silent_p.S143S|PAMR1_uc010rew.1_Intron|PAMR1_uc010rex.1_Silent_p.S103S	p.S143S	NM_001001991	NP_001001991	Q6UXH9	PAMR1_HUMAN			4	472	-			143			CUB.		A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Silent	SNP	ENST00000378880.2	37	c.429C>T	CCDS31460.1																																																																																				0.463	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		22	55	0	0	0	0	22	55				
CKAP5	9793	broad.mit.edu	37	11	46780912	46780912	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr11:46780912T>A	ENST00000529230.1	-	34	4521	c.4475A>T	c.(4474-4476)gAg>gTg	p.E1492V	CKAP5_ENST00000354558.3_Missense_Mutation_p.E1492V|CKAP5_ENST00000312055.5_Missense_Mutation_p.E1492V|CKAP5_ENST00000415402.1_Missense_Mutation_p.E1492V|SNORD67_ENST00000516618.1_RNA			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1492					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						ATTGTCATTCTCAATCTCATC	0.493																																					Ovarian(4;85 273 2202 4844 13323)	uc001ndi.1		NA																	0				ovary(1)|skin(1)	2						c.(4474-4476)GAG>GTG		colonic and hepatic tumor over-expressed protein							157.0	147.0	150.0					11																	46780912		2201	4299	6500	SO:0001583	missense	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding	g.chr11:46780912T>A		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.4475A>T	11.37:g.46780912T>A	ENSP00000432768:p.Glu1492Val					CKAP5_uc009ylg.1_Missense_Mutation_p.E1378V|CKAP5_uc001ndj.1_Missense_Mutation_p.E1492V|CKAP5_uc001ndh.1_Missense_Mutation_p.E421V	p.E1492V	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN			34	4585	-			1492					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	ENST00000529230.1	37	c.4475A>T	CCDS31477.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.81|19.81	3.897103|3.897103	0.72639|0.72639	.|.	.|.	ENSG00000175216|ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558;ENST00000526876|ENST00000527333	T;T;T;T|.	0.48201|.	0.82;0.82;0.84;0.84|.	5.53|5.53	5.53|5.53	0.82687|0.82687	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.044760|.	0.85682|.	D|.	0.000000|.	T|.	0.57607|.	0.2065|.	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.999;0.998|.	D;D;D|.	0.80764|.	0.973;0.994;0.987|.	T|.	0.54077|.	-0.8347|.	10|.	0.37606|.	T|.	0.19|.	-3.1971|-3.1971	15.9682|15.9682	0.79991|0.79991	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1492;1492;1492|.	Q14008-3;Q14008-2;Q14008|.	.;.;CKAP5_HUMAN|.	V|C	1492;1492;1492;1492;223|48	ENSP00000432768:E1492V;ENSP00000395302:E1492V;ENSP00000310227:E1492V;ENSP00000346566:E1492V|.	ENSP00000310227:E1492V|.	E|X	-|-	2|3	0|0	CKAP5|CKAP5	46737488|46737488	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.782000|7.782000	0.85680|0.85680	2.224000|2.224000	0.72417|0.72417	0.528000|0.528000	0.53228|0.53228	GAG|TGA		0.493	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		16	62	0	0	0	0	16	62				
FNBP4	23360	broad.mit.edu	37	11	47739054	47739054	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr11:47739054C>A	ENST00000263773.5	-	17	2986	c.2974G>T	c.(2974-2976)Gag>Tag	p.E992*	AGBL2_ENST00000525123.1_5'Flank|AGBL2_ENST00000298861.4_5'Flank|AGBL2_ENST00000529712.1_5'Flank|AGBL2_ENST00000528244.1_5'Flank|AGBL2_ENST00000357610.3_5'Flank	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	992						nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						GCATTTCTCTCTGCCATGCCA	0.328																																						uc009ylv.2		NA																	0				ovary(1)	1						c.(2974-2976)GAG>TAG		formin binding protein 4							89.0	82.0	84.0					11																	47739054		1829	4086	5915	SO:0001587	stop_gained	23360							g.chr11:47739054C>A	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.2974G>T	11.37:g.47739054C>A	ENSP00000263773:p.Glu992*					AGBL2_uc001ngg.2_5'Flank|AGBL2_uc010rhq.1_5'Flank|AGBL2_uc001ngh.1_5'Flank|FNBP4_uc001ngi.2_Nonsense_Mutation_p.E306*|FNBP4_uc001ngj.2_Nonsense_Mutation_p.E899*	p.E992*	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN			17	3127	-			992					Q9H985|Q9NT81|Q9Y2L7	Nonsense_Mutation	SNP	ENST00000263773.5	37	c.2974G>T	CCDS41644.1	.	.	.	.	.	.	.	.	.	.	C	39	7.356539	0.98231	.	.	ENSG00000109920	ENST00000263773	.	.	.	5.79	5.79	0.91817	.	0.125189	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-18.4709	20.0263	0.97523	0.0:1.0:0.0:0.0	.	.	.	.	X	992	.	ENSP00000263773:E992X	E	-	1	0	FNBP4	47695630	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.165000	0.64959	2.735000	0.93741	0.655000	0.94253	GAG		0.328	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			15	37	1	0	0.000308642	0.000670036	15	37				
OR5T3	390154	broad.mit.edu	37	11	56020591	56020591	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr11:56020591A>G	ENST00000303059.3	+	1	916	c.916A>G	c.(916-918)Ata>Gta	p.I306V		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	306						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					CATAGTGTCAATATTTTACAC	0.358																																						uc010rjd.1		NA																	0					0						c.(916-918)ATA>GTA		olfactory receptor, family 5, subfamily T,							107.0	98.0	101.0					11																	56020591		2201	4295	6496	SO:0001583	missense	390154				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56020591A>G	AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"""GPCR / Class A : Olfactory receptors"""	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.916A>G	11.37:g.56020591A>G	ENSP00000305403:p.Ile306Val						p.I306V	NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN			1	916	+	Esophageal squamous(21;0.00448)		306			Helical; Name=7; (Potential).		Q6IFC7	Missense_Mutation	SNP	ENST00000303059.3	37	c.916A>G	CCDS31524.1	.	.	.	.	.	.	.	.	.	.	A	0.015	-1.556221	0.00910	.	.	ENSG00000172489	ENST00000303059	T	0.00019	9.06	4.32	-0.61	0.11604	GPCR, rhodopsin-like superfamily (1);	0.837020	0.10302	N	0.691025	T	0.00039	0.0001	N	0.00134	-2.025	0.09310	N	1	B	0.06786	0.001	B	0.15484	0.013	T	0.41215	-0.9521	10	0.02654	T	1	.	2.1239	0.03732	0.4217:0.1204:0.3271:0.1308	.	306	Q8NGG3	OR5T3_HUMAN	V	306	ENSP00000305403:I306V	ENSP00000305403:I306V	I	+	1	0	OR5T3	55777167	0.000000	0.05858	0.031000	0.17742	0.934000	0.57294	-2.892000	0.00709	0.003000	0.14656	0.523000	0.50628	ATA		0.358	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	NM_001004747		14	54	0	0	0	0	14	54				
SERPING1	710	broad.mit.edu	37	11	57367613	57367613	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr11:57367613C>A	ENST00000278407.4	+	3	540	c.313C>A	c.(313-315)Cca>Aca	p.P105T	SERPING1_ENST00000403558.1_Missense_Mutation_p.P139T|SERPING1_ENST00000340687.6_Missense_Mutation_p.P105T|SERPING1_ENST00000378323.4_Missense_Mutation_p.P110T|SERPING1_ENST00000378324.2_Missense_Mutation_p.P53T	NM_000062.2	NP_000053.2	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	105	7 X 4 AA tandem repeats of [QE]-P-T-[TQ].		Missing (in HAE; phenotype consistent with hereditary angioedema type 2). {ECO:0000269|PubMed:12773530}.		blood circulation (GO:0008015)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						acccacccaaccaactaccca	0.532																																						uc001nkp.1		NA																	0				central_nervous_system(1)	1						c.(313-315)CCA>ACA		serpin peptidase inhibitor, clade G, member 1							257.0	253.0	254.0					11																	57367613		2201	4296	6497	SO:0001583	missense	710	Hereditary_Angioedema			blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity	g.chr11:57367613C>A	X54486	CCDS7962.1	11q12.1	2014-09-17	2008-07-31		ENSG00000149131	ENSG00000149131		"""Serine (or cysteine) peptidase inhibitors"""	1228	protein-coding gene	gene with protein product	"""plasma protease C1 inhibitor"", ""angioedema, hereditary"""	606860	"""serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)"""	C1NH		2026152, 24172014	Standard	NM_000062		Approved	C1IN, C1-INH, HAE1, HAE2	uc001nkp.1	P05155	OTTHUMG00000150304	ENST00000278407.4:c.313C>A	11.37:g.57367613C>A	ENSP00000278407:p.Pro105Thr					SERPING1_uc001nkq.1_Missense_Mutation_p.P105T|SERPING1_uc010rju.1_Missense_Mutation_p.P53T|SERPING1_uc010rjv.1_Missense_Mutation_p.P110T|SERPING1_uc001nkr.1_Missense_Mutation_p.P105T|SERPING1_uc009ymi.1_Missense_Mutation_p.P105T|SERPING1_uc009ymj.1_Missense_Mutation_p.P105T|SERPING1_uc001nks.1_Intron	p.P105T	NM_000062	NP_000053	P05155	IC1_HUMAN			3	504	+			105		Missing (in HAE; type 2).	6.|7 X 4 AA tandem repeats of [QE]-P-T-[TQ].		A6NMU0|A8KAI9|B2R6L5|B4E1F0|B4E1H2|Q16304|Q547W3|Q59EI5|Q7Z455|Q96FE0|Q9UC49|Q9UCF9	Missense_Mutation	SNP	ENST00000278407.4	37	c.313C>A	CCDS7962.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.040056	0.35989	.	.	ENSG00000149131	ENST00000405496;ENST00000278407;ENST00000340687;ENST00000378323;ENST00000378324;ENST00000403558;ENST00000433668	D;D;D;D;D;D	0.89552	-2.53;-1.86;-1.93;-1.86;-1.84;-1.96	5.65	0.578	0.17391	Serpin domain (1);	0.076040	0.52532	D	0.000070	T	0.76962	0.4061	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.24186	0.099;0.099;0.099;0.099	B;B;B;B	0.25405	0.037;0.06;0.037;0.037	T	0.60801	-0.7191	10	0.28530	T	0.3	.	2.3286	0.04229	0.1465:0.4125:0.2837:0.1573	.	110;139;105;105	B4E1F0;E9PGN7;E9KL26;P05155	.;.;.;IC1_HUMAN	T	105;105;105;110;53;139;105	ENSP00000384561:P105T;ENSP00000278407:P105T;ENSP00000341861:P105T;ENSP00000367574:P110T;ENSP00000367575:P53T;ENSP00000384420:P139T	ENSP00000278407:P105T	P	+	1	0	SERPING1	57124189	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-2.440000	0.01016	0.066000	0.16515	-1.003000	0.02500	CCA		0.532	SERPING1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317465.1	NM_000062		18	63	1	0	3.33e-07	7.7e-07	18	63				
FAM111A	63901	broad.mit.edu	37	11	58920865	58920865	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr11:58920865G>C	ENST00000528737.1	+	5	4542	c.1724G>C	c.(1723-1725)gGc>gCc	p.G575A	FAM111A_ENST00000420244.1_Missense_Mutation_p.G575A|FAM111A_ENST00000361723.3_Missense_Mutation_p.G575A|FAM111A_ENST00000533703.1_Missense_Mutation_p.G575A|FAM111A_ENST00000531147.1_Missense_Mutation_p.G575A			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	575	Interaction with SV40 large T antigen.				defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				ATTGAGTTTGGCTCTACCATG	0.403																																						uc010rkp.1		NA																	0				ovary(3)	3						c.(1723-1725)GGC>GCC		hypothetical protein LOC63901							136.0	134.0	134.0					11																	58920865		2201	4295	6496	SO:0001583	missense	63901				proteolysis		serine-type endopeptidase activity	g.chr11:58920865G>C	AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.1724G>C	11.37:g.58920865G>C	ENSP00000434435:p.Gly575Ala					FAM111A_uc010rkq.1_Missense_Mutation_p.G575A|FAM111A_uc010rkr.1_Missense_Mutation_p.G575A|FAM111A_uc001nno.2_Missense_Mutation_p.G575A|FAM111A_uc001nnp.2_Missense_Mutation_p.G575A|FAM111A_uc001nnq.2_Missense_Mutation_p.G575A	p.G575A	NM_001142521	NP_001135993	Q96PZ2	F111A_HUMAN			5	1951	+		all_epithelial(135;0.139)	575					A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Missense_Mutation	SNP	ENST00000528737.1	37	c.1724G>C	CCDS7973.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.668604	0.47677	.	.	ENSG00000166801	ENST00000528737;ENST00000420244;ENST00000361723;ENST00000533703;ENST00000531147	T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11	5.87	4.96	0.65561	Peptidase cysteine/serine, trypsin-like (1);	0.210046	0.40640	N	0.001053	T	0.76601	0.4010	M	0.73962	2.25	0.37325	D	0.909707	D	0.76494	0.999	D	0.68943	0.961	T	0.82350	-0.0501	10	0.87932	D	0	-17.5634	12.018	0.53326	0.0803:0.0:0.9197:0.0	.	575	Q96PZ2	F111A_HUMAN	A	575	ENSP00000434435:G575A;ENSP00000406683:G575A;ENSP00000355264:G575A;ENSP00000433154:G575A;ENSP00000431631:G575A	ENSP00000355264:G575A	G	+	2	0	FAM111A	58677441	0.998000	0.40836	0.879000	0.34478	0.111000	0.19643	2.667000	0.46808	1.503000	0.48686	0.655000	0.94253	GGC		0.403	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393975.1	NM_022074		56	79	0	0	0	0	56	79				
AHNAK	79026	broad.mit.edu	37	11	62295549	62295549	+	Missense_Mutation	SNP	C	C	T	rs1298288	byFrequency	TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr11:62295549C>T	ENST00000378024.4	-	5	6614	c.6340G>A	c.(6340-6342)Gcc>Acc	p.A2114T	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2114			A -> T (in dbSNP:rs1298288).		protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCTTGGGGGCCTTGAAGTGC	0.507																																						uc001ntl.2		NA																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(6340-6342)GCC>ACC		AHNAK nucleoprotein isoform 1							189.0	200.0	196.0					11																	62295549		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62295549C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.6340G>A	11.37:g.62295549C>T	ENSP00000367263:p.Ala2114Thr					AHNAK_uc001ntk.1_Intron	p.A2114T	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	6640	-		Melanoma(852;0.155)	2114					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.6340G>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	c	0.044	-1.273123	0.01421	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.00912	5.55	3.66	-5.3	0.02738	.	.	.	.	.	T	0.01287	0.0042	L	0.48986	1.54	0.09310	N	1	B	0.16603	0.018	B	0.18871	0.023	T	0.22312	-1.0220	9	0.46703	T	0.11	.	14.1474	0.65360	0.0:0.6689:0.0:0.3311	rs1298288	2114	Q09666	AHNK_HUMAN	T	203;2114	ENSP00000367263:A2114T	ENSP00000244934:A203T	A	-	1	0	AHNAK	62052125	0.000000	0.05858	0.032000	0.17829	0.480000	0.33159	-3.861000	0.00348	-1.808000	0.01234	-1.902000	0.00527	GCC		0.507	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		5	321	0	0	0	0	5	321				
RPS6KA4	8986	broad.mit.edu	37	11	64137240	64137240	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr11:64137240C>T	ENST00000334205.4	+	14	1737	c.1672C>T	c.(1672-1674)Cgg>Tgg	p.R558W	RPS6KA4_ENST00000294261.4_Intron|MIR1237_ENST00000408346.1_RNA|RPS6KA4_ENST00000528057.1_Missense_Mutation_p.R551W	NM_003942.2	NP_003933.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	558	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|negative regulation of cytokine production (GO:0001818)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|mitogen-activated protein kinase p38 binding (GO:0048273)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						CGCGCGGTTGCGGCCGCAGAG	0.692																																						uc001oae.2		NA																	0				lung(3)|ovary(1)|breast(1)	5						c.(1672-1674)CGG>TGG		ribosomal protein S6 kinase, 90kDa, polypeptide							19.0	29.0	26.0					11																	64137240		2197	4295	6492	SO:0001583	missense	8986				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity	g.chr11:64137240C>T	AJ010119	CCDS8073.1, CCDS73313.1	11q11-q13	2011-04-05	2002-08-29		ENSG00000162302	ENSG00000162302			10433	protein-coding gene	gene with protein product		603606	"""ribosomal protein S6 kinase, 90kD, polypeptide 4"""			9792677, 9687510	Standard	XM_005274379		Approved	RSK-B, MSK2	uc001oae.3	O75676	OTTHUMG00000046094	ENST00000334205.4:c.1672C>T	11.37:g.64137240C>T	ENSP00000333896:p.Arg558Trp					RPS6KA4_uc001oad.2_Missense_Mutation_p.R552W|RPS6KA4_uc010rnl.1_Missense_Mutation_p.R495W|RPS6KA4_uc001oaf.2_Missense_Mutation_p.R551W|RPS6KA4_uc009ypp.2_Intron	p.R558W	NM_003942	NP_003933	O75676	KS6A4_HUMAN			14	1755	+			558			Protein kinase 2.		A8K7Z8|O75585|Q53ES8	Missense_Mutation	SNP	ENST00000334205.4	37	c.1672C>T	CCDS8073.1	.	.	.	.	.	.	.	.	.	.	c	18.30	3.592989	0.66219	.	.	ENSG00000162302	ENST00000528057;ENST00000334205;ENST00000530504	T;T;T	0.65549	-0.16;-0.16;-0.16	4.38	4.38	0.52667	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.125508	0.53938	D	0.000049	T	0.67813	0.2933	L	0.39898	1.24	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	P;P;P	0.61658	0.828;0.892;0.827	T	0.67473	-0.5662	10	0.38643	T	0.18	.	14.4125	0.67124	0.0:1.0:0.0:0.0	.	551;558;552	E9PJN1;O75676;O75676-2	.;KS6A4_HUMAN;.	W	551;558;536	ENSP00000435580:R551W;ENSP00000333896:R558W;ENSP00000432945:R536W	ENSP00000333896:R558W	R	+	1	2	RPS6KA4	63893816	0.898000	0.30612	1.000000	0.80357	0.955000	0.61496	0.558000	0.23469	1.970000	0.57323	0.491000	0.48974	CGG		0.692	RPS6KA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106246.2	NM_003942		9	14	0	0	0	0	9	14				
MYO7A	4647	broad.mit.edu	37	11	76891461	76891461	+	Silent	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr11:76891461G>A	ENST00000409709.3	+	22	2900	c.2628G>A	c.(2626-2628)gaG>gaA	p.E876E	MYO7A_ENST00000409893.1_Silent_p.E876E|MYO7A_ENST00000409619.2_Silent_p.E865E|MYO7A_ENST00000458637.2_Silent_p.E876E	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	876					actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGCTGGCGGAGGAAGAGAAGC	0.587																																						uc001oyb.2		NA																	0				ovary(3)|breast(1)	4						c.(2626-2628)GAG>GAA		myosin VIIA isoform 1							32.0	39.0	37.0					11																	76891461		2067	4188	6255	SO:0001819	synonymous_variant	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76891461G>A	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.2628G>A	11.37:g.76891461G>A						MYO7A_uc010rsl.1_Silent_p.E876E|MYO7A_uc010rsm.1_Silent_p.E865E|MYO7A_uc001oyc.2_Silent_p.E876E|MYO7A_uc001oyd.2_Silent_p.E216E|MYO7A_uc009yus.1_RNA|MYO7A_uc009yut.1_Silent_p.E87E	p.E876E	NM_000260	NP_000251	Q13402	MYO7A_HUMAN			22	2900	+			876			Potential.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Silent	SNP	ENST00000409709.3	37	c.2628G>A	CCDS53683.1																																																																																				0.587	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		5	8	0	0	0	0	5	8				
CARD17	440068	broad.mit.edu	37	11	104970094	104970094	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr11:104970094G>A	ENST00000375707.1	-	3	345	c.329C>T	c.(328-330)tCc>tTc	p.S110F	CASP1_ENST00000598974.1_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000593315.1_Intron|CARD16_ENST00000525374.1_Intron|CASP1_ENST00000415981.2_Intron	NM_001007232.1	NP_001007233.1	Q5XLA6	CAR17_HUMAN	caspase recruitment domain family, member 17	110					regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	6						CATTACCTAGGAAGGAAGTAC	0.388																																						uc001pir.1		NA																	0				ovary(1)	1						c.(328-330)TCC>TTC		caspase recruitment domain family, member 17							122.0	117.0	119.0					11																	104970094		2202	4299	6501	SO:0001583	missense	440068				proteolysis|regulation of apoptosis	cytoplasm	cysteine-type endopeptidase activity|cysteine-type endopeptidase inhibitor activity	g.chr11:104970094G>A		CCDS31662.1	11q22.3	2009-01-13				ENSG00000255221			33827	protein-coding gene	gene with protein product	"""Inhibitory CARD"""	609490				15383541	Standard	NM_001007232		Approved	INCA	uc001pir.1	Q5XLA6		ENST00000375707.1:c.329C>T	11.37:g.104970094G>A	ENSP00000364859:p.Ser110Phe					CASP1_uc010rve.1_Intron|CASP1_uc010rvf.1_Intron|CASP1_uc010rvg.1_Intron|CASP1_uc010rvh.1_Intron|CASP1_uc010rvi.1_Intron	p.S110F	NM_001007232	NP_001007233	Q5XLA6	CAR17_HUMAN			3	346	-			110						Missense_Mutation	SNP	ENST00000375707.1	37	c.329C>T	CCDS31662.1	.	.	.	.	.	.	.	.	.	.	.	9.984	1.228988	0.22542	.	.	ENSG00000255221	ENST00000375707	T	0.20881	2.04	1.6	-0.431	0.12295	.	.	.	.	.	T	0.17365	0.0417	N	0.08118	0	0.09310	N	1	D	0.71674	0.998	P	0.60173	0.87	T	0.14062	-1.0486	9	0.87932	D	0	.	3.9732	0.09462	0.4437:0.0:0.5563:0.0	.	110	Q5XLA6	CAR17_HUMAN	F	110	ENSP00000364859:S110F	ENSP00000364859:S110F	S	-	2	0	CARD17	104475304	0.002000	0.14202	0.001000	0.08648	0.032000	0.12392	0.703000	0.25646	-0.137000	0.11455	0.430000	0.28490	TCC		0.388	CARD17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388181.1	NM_001007232		23	32	0	0	0	0	23	32				
CD163L1	283316	broad.mit.edu	37	12	7548986	7548986	+	Silent	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr12:7548986C>T	ENST00000313599.3	-	8	1812	c.1755G>A	c.(1753-1755)ctG>ctA	p.L585L	CD163L1_ENST00000396630.1_Silent_p.L585L|CD163L1_ENST00000416109.2_Silent_p.L595L			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	585	SRCR 6. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGCCGCCCACCAGCCTCAGGC	0.522																																						uc001qsy.2		NA																	0				ovary(8)|skin(2)|central_nervous_system(1)	11						c.(1753-1755)CTG>CTA		scavenger receptor cysteine-rich type 1							43.0	33.0	36.0					12																	7548986		2203	4300	6503	SO:0001819	synonymous_variant	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7548986C>T	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.1755G>A	12.37:g.7548986C>T						CD163L1_uc010sge.1_Silent_p.L595L	p.L585L	NM_174941	NP_777601	Q9NR16	C163B_HUMAN			8	1781	-			585			SRCR 6.|Extracellular (Potential).		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Silent	SNP	ENST00000313599.3	37	c.1755G>A	CCDS8577.1																																																																																				0.522	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		10	14	0	0	0	0	10	14				
GRIN2B	2904	broad.mit.edu	37	12	13828794	13828794	+	Splice_Site	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr12:13828794C>T	ENST00000609686.1	-	4	1220		c.e4-1			NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B						behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GATCAGATACCTGTAAAGATA	0.408																																						uc001rbt.2		NA																	0				central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.e4-1		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						65.0	67.0	66.0					12																	13828794		2203	4300	6503	SO:0001630	splice_region_variant	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13828794C>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.1011-1G>A	12.37:g.13828794C>T							p.R337_splice	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			4	1190	-								Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Splice_Site	SNP	ENST00000609686.1	37	c.1011_splice	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.780172	0.90195	.	.	ENSG00000150086	ENST00000279593	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.181	0.98201	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GRIN2B	13720061	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.440000	0.80464	2.840000	0.97914	0.655000	0.94253	.		0.408	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2		Intron	28	58	0	0	0	0	28	58				
SCAF11	9169	broad.mit.edu	37	12	46321867	46321867	+	Silent	SNP	T	T	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr12:46321867T>C	ENST00000369367.3	-	11	1850	c.1617A>G	c.(1615-1617)acA>acG	p.T539T	SCAF11_ENST00000465950.1_Silent_p.T224T|SCAF11_ENST00000549162.1_Silent_p.T347T|SCAF11_ENST00000419565.2_Silent_p.T539T	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	539					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TACATACATCTGTCTTTACCT	0.368																																						uc001rox.2		NA																	0					0						c.(1615-1617)ACA>ACG		splicing factor, arginine/serine-rich 2,							111.0	103.0	106.0					12																	46321867		2203	4300	6503	SO:0001819	synonymous_variant	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46321867T>C	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.1617A>G	12.37:g.46321867T>C						SFRS2IP_uc001row.2_Silent_p.T224T|SFRS2IP_uc001roy.1_Silent_p.T613T	p.T539T	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)	11	1904	-	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	539					A6NEU9|A6NLW5|Q8IW59	Silent	SNP	ENST00000369367.3	37	c.1617A>G	CCDS8748.2																																																																																				0.368	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		18	79	0	0	0	0	18	79				
SLC11A2	4891	broad.mit.edu	37	12	51384679	51384679	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr12:51384679T>A	ENST00000262051.7	-	15	1561	c.1474A>T	c.(1474-1476)Atg>Ttg	p.M492L	SLC11A2_ENST00000546743.1_Missense_Mutation_p.M413L|SLC11A2_ENST00000547688.1_Missense_Mutation_p.M521L|SLC11A2_ENST00000547198.1_Missense_Mutation_p.M492L|SLC11A2_ENST00000394904.3_Missense_Mutation_p.M521L|SLC11A2_ENST00000545993.2_Missense_Mutation_p.M488L|SLC11A2_ENST00000262052.5_Missense_Mutation_p.M492L|SLC11A2_ENST00000541174.2_Missense_Mutation_p.M492L	NM_001174126.1|NM_001174127.1	NP_001167597.1|NP_001167598.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	492					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cadmium ion transmembrane transport (GO:0070574)|cation transmembrane transport (GO:0098655)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to iron ion (GO:0071281)|cellular response to oxidative stress (GO:0034599)|cellular response to tumor necrosis factor (GO:0071356)|cobalt ion transport (GO:0006824)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detection of oxygen (GO:0003032)|erythrocyte development (GO:0048821)|ferrous iron import (GO:0070627)|ferrous iron transport (GO:0015684)|heme biosynthetic process (GO:0006783)|lead ion transport (GO:0015692)|learning or memory (GO:0007611)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organismal iron ion homeostasis (GO:0060586)|nickel cation transmembrane transport (GO:0035444)|nickel cation transport (GO:0015675)|response to cadmium ion (GO:0046686)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to manganese ion (GO:0010042)|transmembrane transport (GO:0055085)|vanadium ion transport (GO:0015676)|zinc ion transmembrane transport (GO:0071577)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|brush border (GO:0005903)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|paraferritin complex (GO:0070826)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)	cadmium ion binding (GO:0046870)|cadmium ion transmembrane transporter activity (GO:0015086)|cobalt ion binding (GO:0050897)|cobalt ion transmembrane transporter activity (GO:0015087)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|ferrous iron transmembrane transporter activity (GO:0015093)|hydrogen ion transmembrane transporter activity (GO:0015078)|inorganic cation transmembrane transporter activity (GO:0022890)|iron ion binding (GO:0005506)|lead ion transmembrane transporter activity (GO:0015094)|manganese ion binding (GO:0030145)|manganese ion transmembrane transporter activity (GO:0005384)|nickel cation binding (GO:0016151)|nickel cation transmembrane transporter activity (GO:0015099)|solute:proton symporter activity (GO:0015295)|vanadium ion transmembrane transporter activity (GO:0015100)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						ACAAAGTACATATTGATGGAA	0.468																																						uc001rxe.3		NA																	0				large_intestine(1)	1						c.(1474-1476)ATG>TTG		solute carrier family 11 (proton-coupled							135.0	109.0	118.0					12																	51384679		2203	4300	6503	SO:0001583	missense	4891				activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity	g.chr12:51384679T>A	AB015355	CCDS8805.1, CCDS53791.1, CCDS53792.1, CCDS53793.1	12q13	2013-07-18	2013-07-18		ENSG00000110911	ENSG00000110911		"""Solute carriers"""	10908	protein-coding gene	gene with protein product		600523		NRAMP2		7613023	Standard	NM_000617		Approved	DCT1, DMT1	uc001rxk.2	P49281	OTTHUMG00000169493	ENST00000262051.7:c.1474A>T	12.37:g.51384679T>A	ENSP00000262051:p.Met492Leu					SLC11A2_uc001rxd.3_Missense_Mutation_p.M341L|SLC11A2_uc001rxc.3_Missense_Mutation_p.M492L|SLC11A2_uc001rxf.2_RNA|SLC11A2_uc001rxg.1_Missense_Mutation_p.M105L|SLC11A2_uc010smx.1_Missense_Mutation_p.M488L|SLC11A2_uc001rxh.1_Missense_Mutation_p.M492L|SLC11A2_uc001rxj.1_Missense_Mutation_p.M492L|SLC11A2_uc001rxi.2_Missense_Mutation_p.M492L|SLC11A2_uc001rxk.1_Missense_Mutation_p.M521L|SLC11A2_uc010smy.1_Missense_Mutation_p.M455L	p.M492L	NM_000617	NP_000608	P49281	NRAM2_HUMAN			15	1571	-			492			Helical; (Potential).		B3KT08|B4DK84|F5H741|O43288|O60932|O94801|Q498Z5|Q8IUD7|Q96J35	Missense_Mutation	SNP	ENST00000262051.7	37	c.1474A>T	CCDS53792.1	.	.	.	.	.	.	.	.	.	.	T	7.517	0.655885	0.14580	.	.	ENSG00000110911	ENST00000262051;ENST00000547198;ENST00000262052;ENST00000394904;ENST00000547688;ENST00000541174;ENST00000545993;ENST00000546743	T;T;T;T;T;T;T;T	0.25749	2.19;2.19;2.19;2.18;2.18;2.19;2.19;1.78	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.19967	0.0480	L	0.41492	1.28	0.58432	D	0.999999	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.04013	0.0;0.001;0.001;0.001;0.0;0.0	T	0.06954	-1.0798	10	0.02654	T	1	-28.4766	15.3177	0.74095	0.0:0.0:0.0:1.0	.	455;488;521;492;341;492	B7Z9M2;F5H741;P49281-3;P49281-2;B3KY44;P49281	.;.;.;.;.;NRAM2_HUMAN	L	492;492;492;521;521;492;488;413	ENSP00000262051:M492L;ENSP00000446769:M492L;ENSP00000262052:M492L;ENSP00000378364:M521L;ENSP00000449200:M521L;ENSP00000444542:M492L;ENSP00000442810:M488L;ENSP00000446914:M413L	ENSP00000262051:M492L	M	-	1	0	SLC11A2	49670946	1.000000	0.71417	1.000000	0.80357	0.563000	0.35712	7.060000	0.76692	2.262000	0.75019	0.528000	0.53228	ATG		0.468	SLC11A2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404383.1			22	22	0	0	0	0	22	22				
KRT72	140807	broad.mit.edu	37	12	52992876	52992876	+	Silent	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr12:52992876C>T	ENST00000537672.2	-	2	457	c.447G>A	c.(445-447)caG>caA	p.Q149Q	KRT72_ENST00000293745.2_Silent_p.Q149Q|KRT72_ENST00000398066.3_5'UTR|RP11-641A6.2_ENST00000551089.1_RNA|KRT72_ENST00000354310.4_Silent_p.Q149Q	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	149	Coil 1A.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		GCACCTGATTCTGCTGCTCCA	0.547																																						uc001sar.2		NA																	0				ovary(5)|pancreas(1)	6						c.(445-447)CAG>CAA		keratin 72 isoform 1							89.0	80.0	83.0					12																	52992876		2203	4300	6503	SO:0001819	synonymous_variant	140807					keratin filament	structural molecule activity	g.chr12:52992876C>T	AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.447G>A	12.37:g.52992876C>T						KRT72_uc001saq.2_Silent_p.Q149Q|KRT72_uc010sns.1_Silent_p.Q149Q|KRT72_uc010snt.1_5'UTR	p.Q149Q	NM_001146225	NP_001139697	Q14CN4	K2C72_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.195)	2	533	-			149			Coil 1A.|Rod.		B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Silent	SNP	ENST00000537672.2	37	c.447G>A	CCDS8833.1	.	.	.	.	.	.	.	.	.	.	C	9.316	1.056910	0.19907	.	.	ENSG00000170486	ENST00000549979	.	.	.	5.25	4.34	0.51931	.	.	.	.	.	T	0.59878	0.2226	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57774	-0.7753	4	.	.	.	.	9.3067	0.37878	0.1461:0.7807:0.0:0.0732	.	.	.	.	K	146	.	.	E	-	1	0	KRT72	51279143	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.162000	0.42367	1.495000	0.48549	0.561000	0.74099	GAA		0.547	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1	NM_080747		16	51	0	0	0	0	16	51				
RAB3IP	117177	broad.mit.edu	37	12	70194071	70194071	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr12:70194071T>A	ENST00000247833.7	+	7	1347	c.971T>A	c.(970-972)aTc>aAc	p.I324N	RAB3IP_ENST00000550536.1_Missense_Mutation_p.I340N|RAB3IP_ENST00000550847.1_Missense_Mutation_p.I31N|RAB3IP_ENST00000483530.2_Missense_Mutation_p.I324N|RAB3IP_ENST00000551641.1_Missense_Mutation_p.I118N|RAB3IP_ENST00000362025.5_Missense_Mutation_p.I340N|RAB3IP_ENST00000553099.1_Missense_Mutation_p.I118N|RAB3IP_ENST00000325555.9_Missense_Mutation_p.I118N|AC025263.3_ENST00000550437.1_5'Flank					RAB3A interacting protein											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			TTAGACAAAATCTACCAGGAA	0.343																																						uc001svp.2		NA																	0				ovary(1)	1						c.(1018-1020)ATC>AAC		RAB3A interacting protein isoform alpha 2							105.0	97.0	99.0					12																	70194071		2203	4300	6503	SO:0001583	missense	117177				cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding	g.chr12:70194071T>A		CCDS8993.1, CCDS8995.1, CCDS8996.1, CCDS41811.1, CCDS44942.1	12q15	2013-01-22	2013-01-22		ENSG00000127328	ENSG00000127328			16508	protein-coding gene	gene with protein product	"""rabin3"""	608686					Standard	NM_175623		Approved	RABIN3	uc001svm.3	Q96QF0	OTTHUMG00000169437	ENST00000247833.7:c.971T>A	12.37:g.70194071T>A	ENSP00000247833:p.Ile324Asn					RAB3IP_uc001svm.2_Missense_Mutation_p.I324N|RAB3IP_uc001svn.2_Missense_Mutation_p.I324N|RAB3IP_uc001svo.2_Intron|RAB3IP_uc001svq.2_Missense_Mutation_p.I340N|RAB3IP_uc001svr.2_RNA|RAB3IP_uc001svs.2_Intron|RAB3IP_uc001svt.2_Missense_Mutation_p.I118N	p.I340N	NM_175623	NP_783322	Q96QF0	RAB3I_HUMAN	Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)		7	1466	+	Esophageal squamous(21;0.187)		340						Missense_Mutation	SNP	ENST00000247833.7	37	c.1019T>A	CCDS8995.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	20.2|20.2|20.2	3.958323|3.958323|3.958323	0.73902|0.73902|0.73902	.|.|.	.|.|.	ENSG00000127328|ENSG00000127328|ENSG00000127328	ENST00000247833;ENST00000483530;ENST00000325555;ENST00000550536;ENST00000362025;ENST00000551641;ENST00000553099;ENST00000550847|ENST00000550647|ENST00000526994	T;T;T;T;T;T;T;T|.|.	0.45668|.|.	0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89|.|.	5.36|5.36|5.36	5.36|5.36|5.36	0.76844|0.76844|0.76844	.|.|.	0.047470|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|T	0.74816|0.74816|0.74816	0.3766|0.3766|0.3766	M|M|M	0.75264|0.75264|0.75264	2.295|2.295|2.295	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D|.|.	0.89917|.|.	1.0;0.998;1.0|.|.	D;D;D|.|.	0.79784|.|.	0.993;0.991;0.987|.|.	T|T|T	0.75792|0.75792|0.75792	-0.3193|-0.3193|-0.3193	10|5|5	0.87932|.|.	D|.|.	0|.|.	.|.|.	15.3613|15.3613|15.3613	0.74478|0.74478|0.74478	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.|.	340;340;324|.|.	Q96QF0-4;Q96QF0;Q96QF0-3|.|.	.;RAB3I_HUMAN;.|.|.	N|K|T	324;324;118;340;340;118;118;31|213|56	ENSP00000247833:I324N;ENSP00000419216:I324N;ENSP00000323349:I118N;ENSP00000447300:I340N;ENSP00000355381:I340N;ENSP00000448773:I118N;ENSP00000448027:I118N;ENSP00000448102:I31N|.|.	ENSP00000247833:I324N|.|.	I|N|S	+|+|+	2|3|1	0|2|0	RAB3IP|RAB3IP|RAB3IP	68480338|68480338|68480338	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.949000|0.949000|0.949000	0.60115|0.60115|0.60115	7.532000|7.532000|7.532000	0.81985|0.81985|0.81985	2.038000|2.038000|2.038000	0.60285|0.60285|0.60285	0.254000|0.254000|0.254000	0.18369|0.18369|0.18369	ATC|AAT|TCT		0.343	RAB3IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280671.2	NM_022456		7	24	0	0	0	0	7	24				
ANO4	121601	broad.mit.edu	37	12	101510520	101510520	+	Silent	SNP	A	A	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr12:101510520A>C	ENST00000392977.3	+	25	2724	c.2514A>C	c.(2512-2514)cgA>cgC	p.R838R	ANO4_ENST00000392979.3_Silent_p.R803R|ANO4_ENST00000550015.1_Silent_p.R358R|ANO4_ENST00000299222.9_Silent_p.R358R			Q32M45	ANO4_HUMAN	anoctamin 4	838					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TTGAGAACCGATCTGAGCCTG	0.507										HNSCC(74;0.22)																												uc010svm.1		NA																	0				ovary(4)|skin(2)	6						c.(2512-2514)CGA>CGC		anoctamin 4							256.0	229.0	238.0					12																	101510520		2203	4300	6503	SO:0001819	synonymous_variant	121601					chloride channel complex	chloride channel activity	g.chr12:101510520A>C	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.2514A>C	12.37:g.101510520A>C		HNSCC(74;0.22)				ANO4_uc001thw.2_Silent_p.R803R|ANO4_uc001thx.2_Silent_p.R838R|ANO4_uc001thy.2_Silent_p.R358R	p.R838R	NM_178826	NP_849148	Q32M45	ANO4_HUMAN			25	3086	+			838			Cytoplasmic (Potential).		Q8NAJ0|Q8NB39|Q8NB53	Silent	SNP	ENST00000392977.3	37	c.2514A>C																																																																																					0.507	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		21	85	0	0	0	0	21	85				
MYBPC1	4604	broad.mit.edu	37	12	102069094	102069094	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr12:102069094T>C	ENST00000550270.1	+	25	2813	c.2813T>C	c.(2812-2814)gTg>gCg	p.V938A	MYBPC1_ENST00000392934.3_Missense_Mutation_p.V907A|MYBPC1_ENST00000536007.1_Missense_Mutation_p.V901A|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000361466.2_Missense_Mutation_p.V945A|MYBPC1_ENST00000452455.2_Missense_Mutation_p.V938A|MYBPC1_ENST00000547405.1_Missense_Mutation_p.V894A|MYBPC1_ENST00000360610.2_Missense_Mutation_p.V938A|MYBPC1_ENST00000541119.1_Missense_Mutation_p.V908A|MYBPC1_ENST00000553190.1_Missense_Mutation_p.V920A|MYBPC1_ENST00000361685.2_Missense_Mutation_p.V945A|MYBPC1_ENST00000545503.2_Missense_Mutation_p.V920A|MYBPC1_ENST00000441232.1_Missense_Mutation_p.V938A|MYBPC1_ENST00000547509.1_Missense_Mutation_p.V906A|MYBPC1_ENST00000549145.1_Missense_Mutation_p.V951A|MYBPC1_ENST00000551300.1_Missense_Mutation_p.V821A			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	938	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						CCCCAAATTGTGAAGATTGAG	0.448																																						uc001tii.2		NA																	0				ovary(2)|liver(1)|skin(1)	4						c.(2812-2814)GTG>GCG		myosin binding protein C, slow type isoform 3							104.0	86.0	92.0					12																	102069094		2203	4300	6503	SO:0001583	missense	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102069094T>C		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.2813T>C	12.37:g.102069094T>C	ENSP00000449702:p.Val938Ala					MYBPC1_uc001tig.2_Missense_Mutation_p.V945A|MYBPC1_uc010svq.1_Missense_Mutation_p.V907A|MYBPC1_uc001tih.2_Missense_Mutation_p.V945A|MYBPC1_uc001tij.2_Missense_Mutation_p.V920A|MYBPC1_uc010svr.1_Missense_Mutation_p.V920A|MYBPC1_uc010svs.1_Missense_Mutation_p.V938A|MYBPC1_uc010svt.1_Missense_Mutation_p.V908A|MYBPC1_uc010svu.1_Missense_Mutation_p.V901A|MYBPC1_uc001tik.2_Missense_Mutation_p.V894A|MYBPC1_uc001til.2_5'UTR|MYBPC1_uc001tim.2_5'UTR	p.V938A	NM_206820	NP_996556	Q00872	MYPC1_HUMAN			25	2915	+			938			Fibronectin type-III 3.		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	ENST00000550270.1	37	c.2813T>C	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.486817	0.84854	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.60797	0.16;0.16;0.16;0.16;0.16;0.16;0.16;0.16;0.16;0.16;0.16;0.16;0.16;0.16;0.16	5.77	5.77	0.91146	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.45361	D	0.000373	T	0.81093	0.4751	M	0.93197	3.39	0.80722	D	1	P;P;B;B;P;B;B;B;P;P	0.42078	0.77;0.515;0.102;0.378;0.643;0.148;0.298;0.367;0.491;0.464	P;P;P;P;P;P;P;P;P;P	0.58130	0.833;0.764;0.452;0.695;0.45;0.587;0.652;0.811;0.668;0.569	D	0.85308	0.1077	10	0.87932	D	0	.	16.0902	0.81086	0.0:0.0:0.0:1.0	.	901;908;938;920;907;894;920;938;945;945	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.	A	894;938;938;938;907;906;945;951;920;920;901;908;945;821;938	ENSP00000448175:V894A;ENSP00000400908:V938A;ENSP00000388989:V938A;ENSP00000353822:V938A;ENSP00000376665:V907A;ENSP00000447362:V906A;ENSP00000354845:V945A;ENSP00000447660:V951A;ENSP00000447900:V920A;ENSP00000440034:V920A;ENSP00000446128:V901A;ENSP00000442847:V908A;ENSP00000354849:V945A;ENSP00000447116:V821A;ENSP00000449702:V938A	ENSP00000353822:V938A	V	+	2	0	MYBPC1	100593225	1.000000	0.71417	0.998000	0.56505	0.618000	0.37518	7.553000	0.82203	2.194000	0.70268	0.528000	0.53228	GTG		0.448	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			9	31	0	0	0	0	9	31				
CCDC64	92558	broad.mit.edu	37	12	120502659	120502659	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr12:120502659G>T	ENST00000397558.2	+	4	885	c.885G>T	c.(883-885)agG>agT	p.R295S	CCDC64_ENST00000446727.2_Missense_Mutation_p.R39S	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	295					Golgi to secretory granule transport (GO:0055107)|neuron projection development (GO:0031175)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	dynactin binding (GO:0034452)|Rab GTPase binding (GO:0017137)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCTGGAGAGGCAGGGCCATG	0.547																																						uc001txl.1		NA																	0				ovary(2)	2						c.(883-885)AGG>AGT		coiled-coil domain containing 64							136.0	140.0	139.0					12																	120502659		1954	4136	6090	SO:0001583	missense	92558				Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding	g.chr12:120502659G>T	U88834, AK129960	CCDS41845.1	12q24.23	2006-01-24				ENSG00000135127			28095	protein-coding gene	gene with protein product							Standard	NM_207311		Approved	FLJ26450	uc001txl.1	Q6ZP65	OTTHUMG00000169311	ENST00000397558.2:c.885G>T	12.37:g.120502659G>T	ENSP00000380690:p.Arg295Ser					CCDC64_uc001txk.2_Missense_Mutation_p.R295S|CCDC64_uc009zwv.1_RNA|CCDC64_uc010sze.1_Missense_Mutation_p.R39S	p.R295S	NM_207311	NP_997194	Q6ZP65	BICR1_HUMAN			4	910	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		295			Potential.		A8MUC8|B4DWL0|B5MDJ0|O95000	Missense_Mutation	SNP	ENST00000397558.2	37	c.885G>T	CCDS41845.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.308961	0.60305	.	.	ENSG00000135127	ENST00000357093;ENST00000397558;ENST00000446727	T;T	0.77750	-1.12;3.43	5.62	3.81	0.43845	.	0.051079	0.85682	D	0.000000	T	0.70263	0.3204	L	0.55990	1.75	0.80722	D	1	P;B	0.36535	0.557;0.05	B;B	0.34242	0.178;0.04	T	0.69105	-0.5233	10	0.66056	D	0.02	-8.4569	8.9932	0.36037	0.2778:0.0:0.7222:0.0	.	39;295	B4DNE7;Q6ZP65	.;BICR1_HUMAN	S	276;295;39	ENSP00000380690:R295S;ENSP00000399658:R39S	ENSP00000349605:R276S	R	+	3	2	CCDC64	118987042	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.610000	0.36869	0.738000	0.32606	-0.126000	0.14955	AGG		0.547	CCDC64-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403390.2	NM_207311		56	91	1	0	1.94e-29	4.72e-29	56	91				
TUBGCP3	10426	broad.mit.edu	37	13	113200121	113200121	+	Silent	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr13:113200121C>T	ENST00000261965.3	-	11	1413	c.1227G>A	c.(1225-1227)ccG>ccA	p.P409P	TUBGCP3_ENST00000375669.3_Silent_p.P409P|TUBGCP3_ENST00000462580.1_5'UTR	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	409					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					ACCGCATGTACGGGTCTCCTG	0.502																																						uc001vse.1		NA																	0				central_nervous_system(1)	1						c.(1225-1227)CCG>CCA		tubulin, gamma complex associated protein 3							187.0	180.0	183.0					13																	113200121		2203	4300	6503	SO:0001819	synonymous_variant	10426				G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton	g.chr13:113200121C>T	AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"""spindle pole body protein"""					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.1227G>A	13.37:g.113200121C>T						TUBGCP3_uc010tjq.1_Silent_p.P399P|TUBGCP3_uc001vsf.2_Silent_p.P409P	p.P409P	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN			11	1414	-	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		409					O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Silent	SNP	ENST00000261965.3	37	c.1227G>A	CCDS9525.1																																																																																				0.502	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045825.2	NM_006322		54	45	0	0	0	0	54	45				
TSHR	7253	broad.mit.edu	37	14	81610331	81610332	+	Nonsense_Mutation	DNP	TG	TG	AT			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr14:81610331_81610332TG>AT	ENST00000541158.2	+	11	2251_2252	c.1929_1930TG>AT	c.(1927-1932)taTGct>taATct	p.643_644YA>*S	TSHR_ENST00000298171.2_Nonsense_Mutation_p.643_644YA>*S|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	643					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TCTCATTCTATGCTCTGTCAGC	0.455			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																															uc001xvd.1		NA	yes	Dom	yes		14	14q31	7253	Mis	thyroid stimulating hormone receptor	yes	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 	E		thyroid  adenoma	toxic thyroid adenoma		0				thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1)	299						c.(1927-1932)TATGCT>TAATCT		thyroid stimulating hormone receptor isoform 1	Thyrotropin Alfa(DB00024)																																			SO:0001587	stop_gained	7253				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	g.chr14:81610331_81610332TG>AT	AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		Exception_encountered	14.37:g.81610331_81610332delinsAT	ENSP00000441235:p.Y643_A644delins*S						p.643_644YA>*S	NM_000369	NP_000360	P16473	TSHR_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0402)	10	2085_2086	+			643_644			Helical; Name=6; (Potential).		A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Nonsense_Mutation	DNP	ENST00000541158.2	37	c.1929_1930TG>AT	CCDS9872.1																																																																																				0.455	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369		56	98	0	0	0	0	56	98				
CLMN	79789	broad.mit.edu	37	14	95660246	95660246	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr14:95660246C>G	ENST00000298912.4	-	12	2893	c.2780G>C	c.(2779-2781)aGc>aCc	p.S927T	CLMN_ENST00000556441.1_5'UTR|CLMN_ENST00000557215.1_5'UTR	NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	927					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CTGAACATAGCTAAAATGATC	0.378																																						uc001yef.2		NA																	0					0						c.(2779-2781)AGC>ACC		calmin							105.0	99.0	101.0					14																	95660246		2203	4300	6503	SO:0001583	missense	79789					integral to membrane	actin binding	g.chr14:95660246C>G	AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.2780G>C	14.37:g.95660246C>G	ENSP00000298912:p.Ser927Thr						p.S927T	NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN		Epithelial(152;0.193)	12	2896	-			927					B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Missense_Mutation	SNP	ENST00000298912.4	37	c.2780G>C	CCDS9933.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.687619	0.68157	.	.	ENSG00000165959	ENST00000298912	D	0.94758	-3.51	5.04	5.04	0.67666	.	0.000000	0.47852	D	0.000204	D	0.96269	0.8783	M	0.64997	1.995	0.80722	D	1	D	0.63880	0.993	D	0.72625	0.978	D	0.96238	0.9173	10	0.72032	D	0.01	.	13.7519	0.62912	0.0:1.0:0.0:0.0	.	927	Q96JQ2	CLMN_HUMAN	T	927	ENSP00000298912:S927T	ENSP00000298912:S927T	S	-	2	0	CLMN	94729999	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	3.347000	0.52200	2.632000	0.89209	0.561000	0.74099	AGC		0.378	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2			7	50	0	0	0	0	7	50				
GABRG3	2567	broad.mit.edu	37	15	27572157	27572157	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr15:27572157A>T	ENST00000333743.6	+	4	726	c.472A>T	c.(472-474)Aaa>Taa	p.K158*	GABRG3_ENST00000555083.1_Nonsense_Mutation_p.K158*	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	158					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GAATGACGGGAAAATCCTTTA	0.443																																					NSCLC(114;800 1656 7410 37729 45293)	uc001zbg.1		NA																	0					0						c.(472-474)AAA>TAA		gamma-aminobutyric acid (GABA) A receptor, gamma							45.0	44.0	44.0					15																	27572157		1937	4166	6103	SO:0001587	stop_gained	2567				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27572157A>T		CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4088	protein-coding gene	gene with protein product	"""GABA(G) receptor, gamma 3"""	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.472A>T	15.37:g.27572157A>T	ENSP00000331912:p.Lys158*					GABRG3_uc001zbf.2_Nonsense_Mutation_p.K158*	p.K158*	NM_033223	NP_150092	Q99928	GBRG3_HUMAN		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	4	638	+		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)	158			Extracellular (Probable).		G3V594|Q9HD46|Q9NYT2	Nonsense_Mutation	SNP	ENST00000333743.6	37	c.472A>T	CCDS45195.1	.	.	.	.	.	.	.	.	.	.	A	36	5.860952	0.97036	.	.	ENSG00000182256	ENST00000333743;ENST00000555083;ENST00000554696	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	15.3227	0.74135	1.0:0.0:0.0:0.0	.	.	.	.	X	158;158;100	.	ENSP00000331912:K158X	K	+	1	0	GABRG3	25154903	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	4.874000	0.63064	2.198000	0.70561	0.533000	0.62120	AAA		0.443	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2			13	16	0	0	0	0	13	16				
HERC2	8924	broad.mit.edu	37	15	28357012	28357012	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr15:28357012A>C	ENST00000261609.7	-	93	14510	c.14402T>G	c.(14401-14403)cTt>cGt	p.L4801R		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTCTCCTGTAAGTGCGATGCG	0.527																																						uc001zbj.2		NA																	0				ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(14401-14403)CTT>CGT		hect domain and RLD 2							105.0	91.0	95.0					15																	28357012		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28357012A>C	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.14402T>G	15.37:g.28357012A>C	ENSP00000261609:p.Leu4801Arg					HERC2_uc001zbi.2_Missense_Mutation_p.L490R	p.L4801R	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	93	14508	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	4801						Missense_Mutation	SNP	ENST00000261609.7	37	c.14402T>G	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	A	18.48	3.632630	0.67015	.	.	ENSG00000128731	ENST00000261609	T	0.40225	1.04	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.51210	0.1661	N	0.22421	0.69	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.68621	0.942;0.959	T	0.54853	-0.8231	10	0.62326	D	0.03	.	16.4943	0.84223	1.0:0.0:0.0:0.0	.	4801;490	O95714;Q8ND39	HERC2_HUMAN;.	R	4801	ENSP00000261609:L4801R	ENSP00000261609:L4801R	L	-	2	0	HERC2	26030607	1.000000	0.71417	1.000000	0.80357	0.006000	0.05464	9.332000	0.96446	2.291000	0.77112	0.533000	0.62120	CTT		0.527	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		23	53	0	0	0	0	23	53				
ACSBG1	23205	broad.mit.edu	37	15	78472020	78472020	+	Silent	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr15:78472020C>T	ENST00000258873.4	-	10	1561	c.1356G>A	c.(1354-1356)gcG>gcA	p.A452A	ACSBG1_ENST00000560817.1_Silent_p.A210A|ACSBG1_ENST00000541759.1_Silent_p.A210A	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	452					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.A452A(1)		endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						TCATGGGGGCCGCTCCATAGA	0.557																																						uc002bdh.2		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(1)	1						c.(1354-1356)GCG>GCA		lipidosin							77.0	70.0	73.0					15																	78472020		2196	4293	6489	SO:0001819	synonymous_variant	23205				long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity	g.chr15:78472020C>T	AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"""Acyl-CoA synthetase family"""	29567	protein-coding gene	gene with protein product	"""bubblegum"", ""very long-chain acyl-CoA synthetase"", ""lipidosin"""	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.1356G>A	15.37:g.78472020C>T						ACSBG1_uc010umw.1_Silent_p.A448A|ACSBG1_uc010umx.1_Silent_p.A210A	p.A452A	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN			10	1412	-			452					B2RB61|O75126|Q76N27|Q9HC26	Silent	SNP	ENST00000258873.4	37	c.1356G>A	CCDS10298.1																																																																																				0.557	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162		10	52	0	0	0	0	10	52				
KLHL25	64410	broad.mit.edu	37	15	86311556	86311556	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr15:86311556T>A	ENST00000337975.5	-	2	1760	c.1486A>T	c.(1486-1488)Atc>Ttc	p.I496F	KLHL25_ENST00000536947.1_Missense_Mutation_p.I496F|KLHL25_ENST00000559131.1_Intron|MIR1276_ENST00000408707.1_RNA	NM_022480.3	NP_071925.2	Q9H0H3	KLH25_HUMAN	kelch-like family member 25	496					protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of translational initiation (GO:0006446)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						CCTCCCATGATGAAGATCTGG	0.617																																						uc002bly.2		NA																	0				ovary(2)	2						c.(1486-1488)ATC>TTC		BTB/POZ KELCH domain protein							92.0	86.0	88.0					15																	86311556		2202	4299	6501	SO:0001583	missense	64410					cytoplasm		g.chr15:86311556T>A		CCDS10339.1	15q25.3	2013-02-22	2013-02-22		ENSG00000183655	ENSG00000183655		"""Kelch-like"", ""BTB/POZ domain containing"""	25732	protein-coding gene	gene with protein product	"""ectodermal-neural cortex 2"""		"""kelch-like 25 (Drosophila)"""				Standard	XM_006720635		Approved	FLJ12587, ENC2, ENC-2	uc002bly.3	Q9H0H3	OTTHUMG00000148672	ENST00000337975.5:c.1486A>T	15.37:g.86311556T>A	ENSP00000336800:p.Ile496Phe						p.I496F	NM_022480	NP_071925	Q9H0H3	ENC2_HUMAN			2	1689	-			496			Kelch 5.		B2RDH2|B3KRT7	Missense_Mutation	SNP	ENST00000337975.5	37	c.1486A>T	CCDS10339.1	.	.	.	.	.	.	.	.	.	.	T	14.72	2.620678	0.46736	.	.	ENSG00000183655	ENST00000337975;ENST00000538153;ENST00000536947	T;T	0.81330	-1.48;-1.48	5.71	5.71	0.89125	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.87128	0.6100	M	0.74647	2.275	0.54753	D	0.999988	P	0.44195	0.828	P	0.54431	0.752	D	0.88407	0.3019	10	0.72032	D	0.01	.	15.1519	0.72706	0.0:0.0:0.0:1.0	.	496	Q9H0H3	ENC2_HUMAN	F	496;465;496	ENSP00000336800:I496F;ENSP00000444739:I496F	ENSP00000336800:I496F	I	-	1	0	KLHL25	84112560	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.089000	0.57685	2.180000	0.69256	0.379000	0.24179	ATC		0.617	KLHL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309023.1	NM_022480		38	61	0	0	0	0	38	61				
RHOT2	89941	broad.mit.edu	37	16	721109	721109	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr16:721109A>G	ENST00000315082.4	+	11	889	c.775A>G	c.(775-777)Atc>Gtc	p.I259V		NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	259					cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				CACGCTCTTCATCCAGCGCGG	0.657																																						uc002cip.2		NA																	0				pancreas(1)	1						c.(775-777)ATC>GTC		ras homolog gene family, member T2							70.0	65.0	67.0					16																	721109		2201	4296	6497	SO:0001583	missense	89941				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr16:721109A>G	BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983		"""EF-hand domain containing"""	21169	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 2"""	613889	"""chromosome 16 open reading frame 39"", ""ras homolog gene family, member T2"""	C16orf39, ARHT2		12482879	Standard	NM_138769		Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.775A>G	16.37:g.721109A>G	ENSP00000321971:p.Ile259Val					RHOT2_uc002ciq.2_Missense_Mutation_p.I152V|RHOT2_uc010bqy.2_Missense_Mutation_p.I38V	p.I259V	NM_138769	NP_620124	Q8IXI1	MIRO2_HUMAN			11	842	+		Hepatocellular(780;0.0218)	259			Mitochondrial intermembrane (Potential).		A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	Missense_Mutation	SNP	ENST00000315082.4	37	c.775A>G	CCDS10417.1	.	.	.	.	.	.	.	.	.	.	A	16.67	3.188003	0.57909	.	.	ENSG00000140983	ENST00000315082	T	0.51574	0.7	5.27	3.04	0.35103	EF hand associated, type-2 (1);EF-hand-like domain (1);	0.096845	0.64402	N	0.000001	T	0.50701	0.1631	M	0.72894	2.215	0.58432	D	0.999994	B	0.21753	0.06	B	0.36766	0.232	T	0.47923	-0.9079	10	0.56958	D	0.05	-16.907	8.41	0.32638	0.8375:0.0:0.1625:0.0	.	259	Q8IXI1	MIRO2_HUMAN	V	259	ENSP00000321971:I259V	ENSP00000321971:I259V	I	+	1	0	RHOT2	661110	1.000000	0.71417	0.996000	0.52242	0.913000	0.54294	5.094000	0.64523	0.342000	0.23796	0.459000	0.35465	ATC		0.657	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241617.1	NM_138769		19	45	0	0	0	0	19	45				
SOX8	30812	broad.mit.edu	37	16	1035026	1035026	+	Silent	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr16:1035026G>A	ENST00000293894.3	+	3	1096	c.981G>A	c.(979-981)tcG>tcA	p.S327S		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	327					adipose tissue development (GO:0060612)|astrocyte fate commitment (GO:0060018)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|enteric nervous system development (GO:0048484)|fat cell differentiation (GO:0045444)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of gliogenesis (GO:0014015)|positive regulation of kidney development (GO:0090184)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone levels (GO:0010817)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|ureter morphogenesis (GO:0072197)	cytoplasm (GO:0005737)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				CCTCCGCGTCGCCCACCGAGA	0.756																																						uc002ckn.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(979-981)TCG>TCA		SRY (sex determining region Y)-box 8							4.0	5.0	5.0					16																	1035026		1845	3821	5666	SO:0001819	synonymous_variant	30812				adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus		g.chr16:1035026G>A	AF164104	CCDS10428.1	16p13.3	2008-05-23			ENSG00000005513	ENSG00000005513		"""SRY (sex determining region Y)-boxes"""	11203	protein-coding gene	gene with protein product		605923				10662550, 10684944	Standard	NM_014587		Approved		uc002ckn.3	P57073	OTTHUMG00000122101	ENST00000293894.3:c.981G>A	16.37:g.1035026G>A							p.S327S	NM_014587	NP_055402	P57073	SOX8_HUMAN			3	1096	+		Hepatocellular(780;0.00308)	327					Q9NZW2	Silent	SNP	ENST00000293894.3	37	c.981G>A	CCDS10428.1																																																																																				0.756	SOX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242867.1			5	7	0	0	0	0	5	7				
ZNF205	7755	broad.mit.edu	37	16	3169975	3169975	+	Silent	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr16:3169975C>T	ENST00000382192.3	+	7	1519	c.1314C>T	c.(1312-1314)caC>caT	p.H438H	RP11-473M20.14_ENST00000575139.1_RNA|ZNF205_ENST00000219091.4_Silent_p.H438H|RP11-473M20.14_ENST00000576490.1_RNA	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	438					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hydrogen peroxide biosynthetic process (GO:0010729)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|regulation of transcription, DNA-templated (GO:0006355)|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)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						TAGTCACCCACCAGCGCACCC	0.657																																						uc002cub.2		NA																	0					0						c.(1312-1314)CAC>CAT		zinc finger protein 205							62.0	59.0	60.0					16																	3169975		2197	4300	6497	SO:0001819	synonymous_variant	7755				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:3169975C>T	AF060865	CCDS10494.2	16p13.3	2013-01-08			ENSG00000122386	ENSG00000122386		"""Zinc fingers, C2H2-type"", ""-"""	12996	protein-coding gene	gene with protein product		603436		ZNF210		9787081	Standard	NM_003456		Approved	Zfp13	uc002cub.3	O95201	OTTHUMG00000148676	ENST00000382192.3:c.1314C>T	16.37:g.3169975C>T						ZNF205_uc002cua.2_Silent_p.H438H	p.H438H	NM_001042428	NP_001035893	O95201	ZN205_HUMAN			7	1449	+			438			C2H2-type 5.		A8MZK0|D3DUB4|Q9BU95	Silent	SNP	ENST00000382192.3	37	c.1314C>T	CCDS10494.2																																																																																				0.657	ZNF205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309057.1	NM_003456		21	59	0	0	0	0	21	59				
APOBR	55911	broad.mit.edu	37	16	28506581	28506581	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr16:28506581C>G	ENST00000431282.1	+	2	229	c.219C>G	c.(217-219)agC>agG	p.S73R	CLN3_ENST00000567160.1_5'UTR|APOBR_ENST00000328423.5_Missense_Mutation_p.S73R|CLN3_ENST00000569430.1_Intron|APOBR_ENST00000564831.1_Missense_Mutation_p.S73R|CLN3_ENST00000360019.2_5'Flank			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	73					cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						TTAGAGGCAGCCAAAACGAGG	0.617																																						uc002dqb.1		NA																	0					0						c.(217-219)AGC>AGG		apolipoprotein B48 receptor							23.0	31.0	29.0					16																	28506581		1992	4158	6150	SO:0001583	missense	55911				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle		g.chr16:28506581C>G	AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.219C>G	16.37:g.28506581C>G	ENSP00000416094:p.Ser73Arg					uc010vct.1_Intron|CLN3_uc002dpp.2_5'Flank|APOB48R_uc010byg.1_5'UTR	p.S73R	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN			2	229	+			73					H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Missense_Mutation	SNP	ENST00000431282.1	37	c.219C>G		.	.	.	.	.	.	.	.	.	.	C	10.96	1.499623	0.26861	.	.	ENSG00000184730	ENST00000328423;ENST00000431282	T;T	0.59364	0.27;0.27	5.24	3.26	0.37387	.	.	.	.	.	T	0.44498	0.1296	L	0.29908	0.895	0.09310	N	1	P	0.37207	0.587	B	0.36464	0.225	T	0.27640	-1.0068	9	0.52906	T	0.07	-0.4364	9.1049	0.36692	0.0:0.7696:0.1481:0.0823	.	73	Q9NS13	.	R	73	ENSP00000327669:S73R;ENSP00000416094:S73R	ENSP00000327669:S73R	S	+	3	2	APOBR	28414082	0.007000	0.16637	0.005000	0.12908	0.033000	0.12548	0.616000	0.24344	0.700000	0.31782	0.552000	0.68991	AGC		0.617	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_182804		9	4	0	0	0	0	9	4				
ZNF764	92595	broad.mit.edu	37	16	30567359	30567359	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr16:30567359G>A	ENST00000252797.2	-	3	463	c.383C>T	c.(382-384)gCc>gTc	p.A128V	AC002310.13_ENST00000568114.1_Intron|ZNF764_ENST00000395091.2_Missense_Mutation_p.A127V	NM_001172679.1|NM_033410.3	NP_001166150.1|NP_219363.2	Q96H86	ZN764_HUMAN	zinc finger protein 764	128					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						AGACCCGGCGGCCACAGGGTC	0.632																																						uc002dyq.2		NA																	0				ovary(1)	1						c.(382-384)GCC>GTC		zinc finger protein 764							41.0	48.0	46.0					16																	30567359		2196	4300	6496	SO:0001583	missense	92595				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30567359G>A	BC008821	CCDS10683.1, CCDS54001.1	16p11.2	2013-01-08			ENSG00000169951	ENSG00000169951		"""Zinc fingers, C2H2-type"", ""-"""	28200	protein-coding gene	gene with protein product						12477932	Standard	NM_033410		Approved	MGC13138	uc002dyq.3	Q96H86	OTTHUMG00000132406	ENST00000252797.2:c.383C>T	16.37:g.30567359G>A	ENSP00000252797:p.Ala128Val					ZNF764_uc002dyr.1_Missense_Mutation_p.A127V	p.A128V	NM_033410	NP_219363	Q96H86	ZN764_HUMAN			3	464	-			128					A8MZF4|B3KSN2|H9KV99|Q9BWS1	Missense_Mutation	SNP	ENST00000252797.2	37	c.383C>T	CCDS10683.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.314879	0.23908	.	.	ENSG00000169951	ENST00000252797;ENST00000395091	T;T	0.06371	3.33;3.31	4.74	-0.535	0.11879	.	1.354520	0.05572	N	0.571225	T	0.03136	0.0092	N	0.08118	0	0.09310	N	1	B;B	0.27068	0.167;0.001	B;B	0.18871	0.023;0.001	T	0.44221	-0.9342	10	0.28530	T	0.3	-0.273	4.9086	0.13811	0.2494:0.0:0.3976:0.353	.	127;128	B3KSN2;Q96H86	.;ZN764_HUMAN	V	128;127	ENSP00000252797:A128V;ENSP00000378526:A127V	ENSP00000252797:A128V	A	-	2	0	ZNF764	30474860	0.000000	0.05858	0.002000	0.10522	0.043000	0.13939	-0.048000	0.11944	0.081000	0.16988	0.563000	0.77884	GCC		0.632	ZNF764-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255541.1	NM_033410		14	83	0	0	0	0	14	83				
PRR14	78994	broad.mit.edu	37	16	30667619	30667619	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr16:30667619C>T	ENST00000542965.2	+	11	2201	c.1745C>T	c.(1744-1746)cCc>cTc	p.P582L	PRR14_ENST00000300835.4_Missense_Mutation_p.P582L|FBRS_ENST00000356166.6_5'Flank			Q9BWN1	PRR14_HUMAN	proline rich 14	582										breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			CGGGAGCAGCCCCACTGGACC	0.537																																						uc002dyy.2		NA																	0					0						c.(1744-1746)CCC>CTC		proline rich 14							28.0	34.0	32.0					16																	30667619		2140	4247	6387	SO:0001583	missense	78994							g.chr16:30667619C>T	AK074783	CCDS10687.1	16p11.2	2008-02-05			ENSG00000156858	ENSG00000156858			28458	protein-coding gene	gene with protein product						12477932	Standard	NM_024031		Approved	MGC3121	uc002dyy.3	Q9BWN1	OTTHUMG00000132414	ENST00000542965.2:c.1745C>T	16.37:g.30667619C>T	ENSP00000441641:p.Pro582Leu					PRR14_uc002dyz.2_Missense_Mutation_p.P427L|PRR14_uc002dza.2_Missense_Mutation_p.P582L	p.P582L	NM_024031	NP_076936	Q9BWN1	PRR14_HUMAN	Colorectal(24;0.103)		12	2003	+			582					Q8WTX2	Missense_Mutation	SNP	ENST00000542965.2	37	c.1745C>T	CCDS10687.1	.	.	.	.	.	.	.	.	.	.	C	9.907	1.208477	0.22205	.	.	ENSG00000156858	ENST00000287463;ENST00000300835;ENST00000542965	T;T	0.54675	0.56;0.56	5.15	4.17	0.49024	.	0.327305	0.23750	N	0.044936	T	0.57975	0.2090	L	0.44542	1.39	0.09310	N	0.999996	D	0.57257	0.979	P	0.57009	0.811	T	0.52313	-0.8592	10	0.72032	D	0.01	-4.2423	11.6782	0.51442	0.0:0.8217:0.1783:0.0	.	582	Q9BWN1	PRR14_HUMAN	L	555;582;582	ENSP00000300835:P582L;ENSP00000441641:P582L	ENSP00000287463:P555L	P	+	2	0	PRR14	30575120	0.209000	0.23505	0.026000	0.17262	0.018000	0.09664	1.788000	0.38714	1.489000	0.48450	0.650000	0.86243	CCC		0.537	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434433.1	NM_024031		10	65	0	0	0	0	10	65				
CES5A	221223	broad.mit.edu	37	16	55907847	55907847	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr16:55907847C>A	ENST00000290567.9	-	2	297	c.176G>T	c.(175-177)gGa>gTa	p.G59V	CES5A_ENST00000521992.1_Missense_Mutation_p.G88V|CES5A_ENST00000319165.9_Missense_Mutation_p.G59V|CES5A_ENST00000518005.1_5'UTR|CES5A_ENST00000541580.1_Intron|CES5A_ENST00000520435.1_Missense_Mutation_p.G59V	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	59						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						AAAGGGGACTCCGAGGAACAC	0.597																																						uc002eip.2		NA																	0					0						c.(175-177)GGA>GTA		carboxylesterase 7 isoform 1							84.0	73.0	77.0					16																	55907847		2198	4300	6498	SO:0001583	missense	221223					extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55907847C>A	AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"""Carboxylesterases"""	26459	protein-coding gene	gene with protein product			"""carboxylesterase 7"""	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.176G>T	16.37:g.55907847C>A	ENSP00000290567:p.Gly59Val					CES7_uc002eio.2_Missense_Mutation_p.G59V|CES7_uc002eiq.2_5'UTR|CES7_uc002eir.2_5'UTR	p.G59V	NM_001143685	NP_001137157	Q6NT32	EST5A_HUMAN		all cancers(182;0.229)|Epithelial(162;0.231)	2	325	-			59					B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Missense_Mutation	SNP	ENST00000290567.9	37	c.176G>T	CCDS45490.1	.	.	.	.	.	.	.	.	.	.	C	36	5.672488	0.96754	.	.	ENSG00000159398	ENST00000521992;ENST00000319165;ENST00000290567;ENST00000520435	T;T;T;T	0.18810	2.19;2.19;2.19;2.19	5.66	5.66	0.87406	Carboxylesterase, type B (1);	0.000000	0.49916	D	0.000131	T	0.67325	0.2881	H	0.99090	4.425	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.97110	1.0;0.93	T	0.81473	-0.0917	10	0.87932	D	0	.	17.6943	0.88277	0.0:1.0:0.0:0.0	.	59;59	Q6NT32;Q6NT32-2	EST5A_HUMAN;.	V	88;59;59;59	ENSP00000428864:G88V;ENSP00000324271:G59V;ENSP00000290567:G59V;ENSP00000428887:G59V	ENSP00000290567:G59V	G	-	2	0	CES5A	54465348	0.999000	0.42202	0.364000	0.25888	0.766000	0.43426	6.056000	0.71111	2.857000	0.98124	0.650000	0.86243	GGA		0.597	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256975.3	NM_145024		21	15	1	0	1.11e-12	2.61e-12	21	15				
SPG7	6687	broad.mit.edu	37	16	89619494	89619494	+	Silent	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr16:89619494C>T	ENST00000268704.2	+	14	1902	c.1887C>T	c.(1885-1887)gcC>gcT	p.A629A		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	629					anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		TGTGCATGGCCCTGGGAGGAC	0.622																																						uc002fnj.2		NA																	0					0						c.(1885-1887)GCC>GCT		spastic paraplegia 7 isoform 1							47.0	40.0	42.0					16																	89619494		2198	4300	6498	SO:0001819	synonymous_variant	6687				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr16:89619494C>T	Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"""ATPases / AAA-type"""	11237	protein-coding gene	gene with protein product	"""paraplegin"""	602783	"""cell matrix adhesion regulator"""	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.1887C>T	16.37:g.89619494C>T						SPG7_uc002fnk.1_RNA|SPG7_uc002fnl.2_Silent_p.A38A	p.A629A	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)	14	1908	+		all_hematologic(23;0.00824)|Colorectal(91;0.102)	629			Mitochondrial matrix (Potential).		O75756|Q2TB70|Q58F00|Q96IB0	Silent	SNP	ENST00000268704.2	37	c.1887C>T	CCDS10977.1																																																																																				0.622	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2	NM_003119		4	6	0	0	0	0	4	6				
MYH8	4626	broad.mit.edu	37	17	10303904	10303904	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr17:10303904C>G	ENST00000403437.2	-	27	3632	c.3538G>C	c.(3538-3540)Gac>Cac	p.D1180H	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1180					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCCTCCAGGTCCCTGCGCAGT	0.567									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2		NA																	0				skin(6)|ovary(3)|breast(2)	11						c.(3538-3540)GAC>CAC		myosin, heavy chain 8, skeletal muscle,							88.0	91.0	90.0					17																	10303904		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10303904C>G		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.3538G>C	17.37:g.10303904C>G	ENSP00000384330:p.Asp1180His					uc002gml.1_Intron	p.D1180H	NM_002472	NP_002463	P13535	MYH8_HUMAN			27	3633	-			1180			Potential.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.3538G>C	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320793	0.81469	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.83335	-1.71	5.35	5.35	0.76521	Myosin tail (1);	0.000000	0.44097	U	0.000497	D	0.93877	0.8041	H	0.94886	3.595	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.95021	0.8160	10	0.87932	D	0	.	19.253	0.93933	0.0:1.0:0.0:0.0	.	1180	P13535	MYH8_HUMAN	H	1180	ENSP00000384330:D1180H	ENSP00000252173:D1180H	D	-	1	0	MYH8	10244629	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.443000	0.80521	2.785000	0.95823	0.655000	0.94253	GAC		0.567	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		52	109	0	0	0	0	52	109				
MYO15A	51168	broad.mit.edu	37	17	18065898	18065898	+	Splice_Site	SNP	G	G	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr17:18065898G>T	ENST00000205890.5	+	58	9855		c.e58-1		MYO15A_ENST00000451725.2_Splice_Site|MYO15A_ENST00000418233.3_Splice_Site	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA						inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGCTTCTGCAGGGATCGCCAA	0.607																																						uc010vxh.1		NA																	0				skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9						c.e57-1		myosin XV							24.0	25.0	25.0					17																	18065898		1938	4138	6076	SO:0001630	splice_region_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18065898G>T	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.9518-1G>T	17.37:g.18065898G>T						MYO15A_uc010vxi.1_Splice_Site_p.G437_splice|MYO15A_uc010vxk.1_Splice_Site|MYO15A_uc010vxl.1_Splice_Site_p.G162_splice|MYO15A_uc002gsl.2_Splice_Site_p.G180_splice|MYO15A_uc010vxm.1_Splice_Site_p.G95_splice|MYO15A_uc002gsm.1_Splice_Site_p.G95_splice|MYO15A_uc010cpv.2_Splice_Site	p.G3173_splice	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN			57	9856	+	all_neural(463;0.228)							B4DFC7	Splice_Site	SNP	ENST00000205890.5	37	c.9518_splice	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.029094	0.75504	.	.	ENSG00000091536	ENST00000205890;ENST00000418233;ENST00000556535;ENST00000557190;ENST00000451725	.	.	.	4.79	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8364	0.88699	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYO15A	18006623	1.000000	0.71417	0.974000	0.42286	0.791000	0.44710	9.660000	0.98599	2.205000	0.71048	0.455000	0.32223	.		0.607	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239	Intron	16	6	1	0	3.41e-10	8e-10	16	6				
GAS2L2	246176	broad.mit.edu	37	17	34077222	34077222	+	Silent	SNP	T	T	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr17:34077222T>A	ENST00000254466.6	-	2	528	c.501A>T	c.(499-501)acA>acT	p.T167T	GAS2L2_ENST00000587565.1_Silent_p.T167T	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	167					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCTGCACGAGTGTGGGCGCCG	0.711																																						uc002hjv.1		NA																	0				ovary(1)|skin(1)	2						c.(499-501)ACA>ACT		growth arrest-specific 2 like 2							99.0	113.0	108.0					17																	34077222		2202	4299	6501	SO:0001819	synonymous_variant	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34077222T>A	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.501A>T	17.37:g.34077222T>A							p.T167T	NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	529	-		Ovarian(249;0.17)	167					Q8NHY4	Silent	SNP	ENST00000254466.6	37	c.501A>T	CCDS11298.1																																																																																				0.711	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		88	184	0	0	0	0	88	184				
KRT31	3881	broad.mit.edu	37	17	39553595	39553595	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr17:39553595C>T	ENST00000251645.2	-	1	249	c.197G>A	c.(196-198)cGc>cAc	p.R66H		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	66	Coil 1A.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				GCTGGCCAGGCGGTCGTTCAG	0.612																																						uc002hwn.2		NA																	0					0						c.(196-198)CGC>CAC		keratin 31							90.0	88.0	89.0					17																	39553595		2203	4300	6503	SO:0001583	missense	3881				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39553595C>T	X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6448	protein-coding gene	gene with protein product	"""hard keratin type I 1"""	601077	"""keratin, hair, acidic, 1"""	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.197G>A	17.37:g.39553595C>T	ENSP00000251645:p.Arg66His					KRT31_uc010cxn.2_Missense_Mutation_p.R66H	p.R66H	NM_002277	NP_002268	Q15323	K1H1_HUMAN			1	250	-		Breast(137;0.000496)	66			Coil 1A.|Rod.		Q9UE12	Missense_Mutation	SNP	ENST00000251645.2	37	c.197G>A	CCDS11391.1	.	.	.	.	.	.	.	.	.	.	c	35	5.588571	0.96590	.	.	ENSG00000094796	ENST00000251645	D	0.94046	-3.34	5.87	5.87	0.94306	Filament (1);	0.000000	0.64402	D	0.000007	D	0.97564	0.9202	M	0.91300	3.195	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.97936	1.0323	10	0.87932	D	0	.	19.2739	0.94023	0.0:1.0:0.0:0.0	.	66	Q15323	K1H1_HUMAN	H	66	ENSP00000251645:R66H	ENSP00000251645:R66H	R	-	2	0	KRT31	36807121	1.000000	0.71417	0.993000	0.49108	0.962000	0.63368	7.771000	0.85420	2.804000	0.96469	0.650000	0.86243	CGC		0.612	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257286.1	NM_002277		41	86	0	0	0	0	41	86				
KIF18B	146909	broad.mit.edu	37	17	43004426	43004426	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr17:43004426G>A	ENST00000593135.1	-	14	2394	c.2297C>T	c.(2296-2298)aCc>aTc	p.T766I	KIF18B_ENST00000438933.2_Missense_Mutation_p.T778I|KIF18B_ENST00000339151.4_Missense_Mutation_p.T769I|KIF18B_ENST00000590129.1_Missense_Mutation_p.T787I|KIF18B_ENST00000587309.1_Missense_Mutation_p.T778I	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	778					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				GCCCTTCATGGTGAACAGGGG	0.632																																						uc010wji.1		NA																	0				ovary(2)	2						c.(2305-2307)ACC>ATC		kinesin family member 18B							32.0	35.0	34.0					17																	43004426		2015	4171	6186	SO:0001583	missense	146909							g.chr17:43004426G>A		CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"""Kinesins"""	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.2297C>T	17.37:g.43004426G>A	ENSP00000465992:p.Thr766Ile					KIF18B_uc002iht.2_Missense_Mutation_p.T778I|KIF18B_uc010wjh.1_Missense_Mutation_p.T766I	p.T769I	NM_001080443	NP_001073912					14	2407	-		Prostate(33;0.155)						A6NJI2|B7ZM49|B9EGM8|D5L6I1	Missense_Mutation	SNP	ENST00000593135.1	37	c.2306C>T	CCDS45709.2	.	.	.	.	.	.	.	.	.	.	G	14.35	2.507723	0.44558	.	.	ENSG00000186185	ENST00000438933;ENST00000339151;ENST00000376982	T;T	0.76186	-0.98;-1.0	4.94	4.94	0.65067	.	.	.	.	.	D	0.82513	0.5053	L	0.60455	1.87	0.26542	N	0.974069	D;D;D	0.67145	0.993;0.989;0.996	P;P;D	0.64410	0.844;0.885;0.925	T	0.74819	-0.3535	9	0.72032	D	0.01	.	13.5352	0.61643	0.0:0.0:1.0:0.0	.	778;775;787	Q86Y91;Q86Y91-3;Q86Y91-2	KI18B_HUMAN;.;.	I	778;769;778	ENSP00000412798:T778I;ENSP00000341466:T769I	ENSP00000341466:T769I	T	-	2	0	KIF18B	40359952	0.998000	0.40836	0.889000	0.34880	0.029000	0.11900	1.460000	0.35244	2.573000	0.86826	0.655000	0.94253	ACC		0.632	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000448724.1	NM_001080443		13	24	0	0	0	0	13	24				
XYLT2	64132	broad.mit.edu	37	17	48432867	48432867	+	Missense_Mutation	SNP	A	A	G	rs200858180		TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr17:48432867A>G	ENST00000017003.2	+	5	1062	c.1013A>G	c.(1012-1014)aAt>aGt	p.N338S	XYLT2_ENST00000507602.1_Missense_Mutation_p.N338S	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	338					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					ACCAGGACCAATGAGGAGCTG	0.562																																						uc002iqo.2		NA																	0				pancreas(1)	1						c.(1012-1014)AAT>AGT		xylosyltransferase II							68.0	60.0	63.0					17																	48432867		2203	4300	6503	SO:0001583	missense	64132				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr17:48432867A>G	AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"""protein xylosyltransferase 2"""	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.1013A>G	17.37:g.48432867A>G	ENSP00000017003:p.Asn338Ser					XYLT2_uc010dbo.2_RNA	p.N338S	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN			5	1122	+	Breast(11;7.18e-19)		338			Lumenal (Potential).		Q6UY41|Q86V00	Missense_Mutation	SNP	ENST00000017003.2	37	c.1013A>G	CCDS11563.1	.	.	.	.	.	.	.	.	.	.	A	18.95	3.732244	0.69189	.	.	ENSG00000015532	ENST00000017003;ENST00000507602	T;T	0.11821	2.74;2.74	4.47	4.47	0.54385	.	0.106944	0.64402	D	0.000006	T	0.35998	0.0951	M	0.82923	2.615	0.80722	D	1	D	0.59767	0.986	P	0.59825	0.864	T	0.35748	-0.9776	10	0.72032	D	0.01	-17.5234	13.97	0.64233	1.0:0.0:0.0:0.0	.	338	Q9H1B5	XYLT2_HUMAN	S	338	ENSP00000017003:N338S;ENSP00000426501:N338S	ENSP00000017003:N338S	N	+	2	0	XYLT2	45787866	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.301000	0.78850	1.902000	0.55061	0.374000	0.22700	AAT		0.562	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367046.1	NM_022167		6	50	0	0	0	0	6	50				
VEZF1	7716	broad.mit.edu	37	17	56060238	56060238	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr17:56060238G>A	ENST00000581208.1	-	2	590	c.550C>T	c.(550-552)Cga>Tga	p.R184*	VEZF1_ENST00000584396.1_Nonsense_Mutation_p.R175*	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	184					angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|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)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						TACACATCTCGGAAGGCCTTC	0.498																																						uc002ivf.1		NA																	0				ovary(1)|breast(1)	2						c.(550-552)CGA>TGA		zinc finger protein 161							82.0	67.0	72.0					17																	56060238		2203	4300	6503	SO:0001587	stop_gained	7716				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr17:56060238G>A	D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"""Zinc fingers, C2H2-type"""	12949	protein-coding gene	gene with protein product		606747	"""zinc finger protein 161"""	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.550C>T	17.37:g.56060238G>A	ENSP00000462337:p.Arg184*					VEZF1_uc010dcn.1_Nonsense_Mutation_p.R28*	p.R184*	NM_007146	NP_009077	Q14119	VEZF1_HUMAN			2	693	-			184			C2H2-type 2.			Nonsense_Mutation	SNP	ENST00000581208.1	37	c.550C>T	CCDS32687.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.251095	0.80135	.	.	ENSG00000136451	ENST00000258963	.	.	.	5.48	3.39	0.38822	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-4.8307	14.2521	0.66026	0.0:0.0:0.5141:0.4859	.	.	.	.	X	184	.	ENSP00000258963:R184X	R	-	1	2	VEZF1	53415237	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.087000	0.50167	1.302000	0.44855	0.643000	0.83706	CGA		0.498	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1			16	45	0	0	0	0	16	45				
TEX14	56155	broad.mit.edu	37	17	56729334	56729334	+	Missense_Mutation	SNP	G	G	A	rs199725150		TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr17:56729334G>A	ENST00000240361.8	-	2	114	c.29C>T	c.(28-30)cCc>cTc	p.P10L	TEX14_ENST00000389934.3_Missense_Mutation_p.P10L|TEX14_ENST00000349033.5_Missense_Mutation_p.P10L			Q8IWB6	TEX14_HUMAN	testis expressed 14	10					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)	p.P10H(2)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AACAGGACAGGGGACTGGAAG	0.398																																						uc010dcz.1		NA																	2	Substitution - Missense(2)		lung(2)	stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17						c.(28-30)CCC>CTC		testis expressed sequence 14 isoform a							77.0	69.0	72.0					17																	56729334		2203	4300	6503	SO:0001583	missense	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56729334G>A	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.29C>T	17.37:g.56729334G>A	ENSP00000240361:p.Pro10Leu					TEX14_uc002iwr.1_Missense_Mutation_p.P10L|TEX14_uc002iws.1_Missense_Mutation_p.P10L|TEX14_uc010dda.1_5'UTR	p.P10L	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN			2	147	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		10					A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	c.29C>T	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.264214	0.80358	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	D;D;T	0.81579	-1.51;-1.51;-1.43	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000010	D	0.82935	0.5145	N	0.24115	0.695	0.50467	D	0.999879	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.995	D	0.85121	0.0969	10	0.87932	D	0	-11.1593	14.587	0.68331	0.0:0.0:1.0:0.0	.	10;10;10	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	L	10	ENSP00000240361:P10L;ENSP00000374584:P10L;ENSP00000268910:P10L	ENSP00000240361:P10L	P	-	2	0	TEX14	54084333	1.000000	0.71417	0.994000	0.49952	0.961000	0.63080	5.300000	0.65721	2.583000	0.87209	0.543000	0.68304	CCC		0.398	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			13	32	0	0	0	0	13	32				
TTYH2	94015	broad.mit.edu	37	17	72209745	72209745	+	Missense_Mutation	SNP	G	G	C	rs368446841		TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr17:72209745G>C	ENST00000269346.4	+	1	93	c.19G>C	c.(19-21)Gac>Cac	p.D7H	CTD-2514K5.2_ENST00000499670.2_RNA|CTD-2514K5.2_ENST00000532794.1_RNA|CTD-2514K5.2_ENST00000531617.1_RNA|TTYH2_ENST00000529107.1_5'Flank	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	7						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						GGCGCGCGTGGACTACATCGC	0.736																																						uc002jkc.2		NA																	0				ovary(3)|large_intestine(1)	4						c.(19-21)GAC>CAC		tweety 2 isoform 1		G	HIS/ASP	0,4398		0,0,2199	35.0	32.0	33.0		19	2.4	1.0	17		33	1,8595		0,1,4297	no	missense	TTYH2	NM_032646.5	81	0,1,6496	CC,CG,GG		0.0116,0.0,0.0077	possibly-damaging	7/535	72209745	1,12993	2199	4298	6497	SO:0001583	missense	94015					chloride channel complex|plasma membrane	chloride channel activity|protein binding	g.chr17:72209745G>C		CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"""tweety (Drosophila) homolog 2"", ""tweety homolog 2 (Drosophila)"""			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.19G>C	17.37:g.72209745G>C	ENSP00000269346:p.Asp7His					TTYH2_uc010wqw.1_5'Flank|MGC16275_uc002jkb.2_5'Flank	p.D7H	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN			1	50	+			7			Extracellular (Potential).		B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Missense_Mutation	SNP	ENST00000269346.4	37	c.19G>C	CCDS32717.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.742680	0.69418	0.0	1.16E-4	ENSG00000141540	ENST00000269346	T	0.10477	2.87	3.38	2.39	0.29439	.	0.171608	0.37393	U	0.002103	T	0.09069	0.0224	L	0.29908	0.895	0.80722	D	1	P	0.42375	0.778	B	0.41135	0.348	T	0.16394	-1.0404	10	0.51188	T	0.08	-7.64	10.6746	0.45778	0.0:0.3742:0.6258:0.0	.	7	Q9BSA4	TTYH2_HUMAN	H	7	ENSP00000269346:D7H	ENSP00000269346:D7H	D	+	1	0	TTYH2	69721340	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.376000	0.59556	0.609000	0.30018	0.543000	0.68304	GAC		0.736	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1			5	14	0	0	0	0	5	14				
CBX2	84733	broad.mit.edu	37	17	77758172	77758172	+	Silent	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr17:77758172G>A	ENST00000310942.4	+	5	1034	c.930G>A	c.(928-930)aaG>aaA	p.K310K		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	310					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|development of primary sexual characteristics (GO:0045137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			AAATCCCGAAGGCCCCCAGCG	0.682																																						uc002jxc.2		NA																	0					0						c.(928-930)AAG>AAA		chromobox homolog 2 isoform 1							21.0	22.0	22.0					17																	77758172		2199	4298	6497	SO:0001819	synonymous_variant	84733				cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding	g.chr17:77758172G>A	BC004252, BG354579	CCDS11764.1, CCDS32757.1	17q25.3	2010-07-06	2010-06-24		ENSG00000173894	ENSG00000173894			1552	protein-coding gene	gene with protein product	"""Pc class homolog (Drosophila)"""	602770	"""chromobox homolog 2 (Drosophila Pc class)"", ""cell division cycle associated 6"""	CDCA6		7782071, 2477932	Standard	NM_005189		Approved	MGC10561	uc002jxc.3	Q14781		ENST00000310942.4:c.930G>A	17.37:g.77758172G>A							p.K310K	NM_005189	NP_005180	Q14781	CBX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	972	+			310					Q0VDA5|Q9BTB1	Silent	SNP	ENST00000310942.4	37	c.930G>A	CCDS32757.1																																																																																				0.682	CBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437040.1	NM_032647		6	33	0	0	0	0	6	33				
MC5R	4161	broad.mit.edu	37	18	13826243	13826243	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr18:13826243G>A	ENST00000324750.3	+	1	701	c.479G>A	c.(478-480)gGg>gAg	p.G160E	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	160					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						AGGCGCTCAGGGGCCATCATC	0.577																																						uc010xaf.1		NA																	0				ovary(3)|lung(2)|breast(1)	6						c.(478-480)GGG>GAG		melanocortin 5 receptor							220.0	201.0	208.0					18																	13826243		2203	4300	6503	SO:0001583	missense	4161				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	g.chr18:13826243G>A	AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"""GPCR / Class A : Melanocortin receptors"""	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.479G>A	18.37:g.13826243G>A	ENSP00000318077:p.Gly160Glu						p.G160E	NM_005913	NP_005904	P33032	MC5R_HUMAN			1	479	+			160			Helical; Name=4; (Potential).		B0YJ34|Q502V1	Missense_Mutation	SNP	ENST00000324750.3	37	c.479G>A	CCDS11868.1	.	.	.	.	.	.	.	.	.	.	G	6.939	0.543013	0.13250	.	.	ENSG00000176136	ENST00000324750	T	0.37752	1.18	5.01	3.14	0.36123	GPCR, rhodopsin-like superfamily (1);	0.103299	0.64402	D	0.000003	T	0.49762	0.1576	M	0.88775	2.98	0.19300	N	0.999978	P	0.49696	0.927	P	0.51170	0.661	T	0.50206	-0.8855	10	0.12103	T	0.63	.	10.8189	0.46593	0.0:0.142:0.7105:0.1475	.	160	P33032	MC5R_HUMAN	E	160	ENSP00000318077:G160E	ENSP00000318077:G160E	G	+	2	0	MC5R	13816243	1.000000	0.71417	0.000000	0.03702	0.011000	0.07611	3.333000	0.52090	0.462000	0.27095	0.455000	0.32223	GGG		0.577	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913		128	226	0	0	0	0	128	226				
OSBPL1A	114876	broad.mit.edu	37	18	21759702	21759702	+	Splice_Site	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr18:21759702C>T	ENST00000319481.3	-	20	2116	c.1910G>A	c.(1909-1911)cGa>cAa	p.R637Q	OSBPL1A_ENST00000399443.3_Splice_Site_p.R124Q|OSBPL1A_ENST00000357041.4_Splice_Site_p.R255Q	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	637					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					AAGGCCTCACCGCACTAATTC	0.448																																						uc002kve.2		NA																	0				ovary(4)	4						c.(1909-1911)CGA>CAA		oxysterol-binding protein-like 1A isoform B							109.0	95.0	100.0					18																	21759702		2203	4300	6503	SO:0001630	splice_region_variant	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21759702C>T	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.1910+1G>A	18.37:g.21759702C>T						OSBPL1A_uc002kvd.2_Missense_Mutation_p.R124Q|OSBPL1A_uc010xbc.1_Missense_Mutation_p.R255Q	p.R637Q	NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN			20	2084	-	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)		637					B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	ENST00000319481.3	37	c.1910G>A	CCDS11884.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.977069	0.34848	.	.	ENSG00000141447	ENST00000319481;ENST00000399443;ENST00000357041	T;T;T	0.32753	1.44;1.44;1.44	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.60586	0.2280	M	0.87328	2.875	0.80722	D	1	D	0.71674	0.998	P	0.60682	0.878	T	0.64228	-0.6457	9	.	.	.	-1.9634	20.091	0.97817	0.0:1.0:0.0:0.0	.	637	Q9BXW6	OSBL1_HUMAN	Q	637;124;255	ENSP00000320291:R637Q;ENSP00000382372:R124Q;ENSP00000349545:R255Q	.	R	-	2	0	OSBPL1A	20013700	1.000000	0.71417	0.999000	0.59377	0.020000	0.10135	5.994000	0.70623	2.739000	0.93911	0.655000	0.94253	CGA		0.448	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597	Missense_Mutation	5	24	0	0	0	0	5	24				
MOCOS	55034	broad.mit.edu	37	18	33795646	33795646	+	Silent	SNP	C	C	T	rs373551749		TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr18:33795646C>T	ENST00000261326.5	+	8	1524	c.1503C>T	c.(1501-1503)gcC>gcT	p.A501A		NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase											breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TCCCTCAGGCCCATGCTGACA	0.567																																						uc002kzq.3		NA																	0				skin(1)	1						c.(1501-1503)GCC>GCT		molybdenum cofactor sulfurase	Pyridoxal Phosphate(DB00114)						58.0	50.0	53.0					18																	33795646		2203	4300	6503	SO:0001819	synonymous_variant	55034				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding	g.chr18:33795646C>T	AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.1503C>T	18.37:g.33795646C>T							p.A501A	NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN			8	1526	+			501						Silent	SNP	ENST00000261326.5	37	c.1503C>T	CCDS11919.1																																																																																				0.567	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255801.1			6	15	0	0	0	0	6	15				
MIER2	54531	broad.mit.edu	37	19	312210	312210	+	Silent	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr19:312210G>A	ENST00000264819.4	-	9	880	c.870C>T	c.(868-870)ttC>ttT	p.F290F		NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	290	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTTCACGTTGAACCGCAGCC	0.637																																						uc002lok.1		NA																	0					0						c.(868-870)TTC>TTT		mesoderm induction early response 1, family							100.0	84.0	89.0					19																	312210		2203	4300	6503	SO:0001819	synonymous_variant	54531				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr19:312210G>A	AB033019	CCDS32855.1	19p13.3	2008-02-05	2006-04-20	2006-04-20		ENSG00000105556			29210	protein-coding gene	gene with protein product			"""KIAA1193"""	KIAA1193		10574462	Standard	NM_017550		Approved		uc002lok.1	Q8N344		ENST00000264819.4:c.870C>T	19.37:g.312210G>A							p.F290F	NM_017550	NP_060020	Q8N344	MIER2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	879	-		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)	290			ELM2.		Q9ULM7	Silent	SNP	ENST00000264819.4	37	c.870C>T	CCDS32855.1																																																																																				0.637	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451784.1	XM_041843		12	34	0	0	0	0	12	34				
ELAVL1	1994	broad.mit.edu	37	19	8032636	8032636	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr19:8032636G>A	ENST00000407627.2	-	5	598	c.469C>T	c.(469-471)Cgg>Tgg	p.R157W	ELAVL1_ENST00000351593.5_Missense_Mutation_p.R184W|ELAVL1_ENST00000593807.1_Intron|ELAVL1_ENST00000596459.1_Missense_Mutation_p.R157W	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	157	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|multicellular organismal development (GO:0007275)|positive regulation of translation (GO:0045727)|regulation of stem cell maintenance (GO:2000036)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|double-stranded RNA binding (GO:0003725)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GCCTCCGACCGTTTGTCAAAC	0.468																																						uc002mjb.2		NA																	0					0						c.(469-471)CGG>TGG		ELAV-like 1							115.0	95.0	102.0					19																	8032636		2203	4300	6503	SO:0001583	missense	1994				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding	g.chr19:8032636G>A	U38175	CCDS12193.1	19p13.2	2013-10-03	2013-10-03			ENSG00000066044		"""RNA binding motif (RRM) containing"""	3312	protein-coding gene	gene with protein product	"""embryonic lethal, abnormal vision, drosophila, homolog-like 1"", ""Hu antigen R"""	603466	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R)"""	HUR		8626503, 9003489	Standard	NM_001419		Approved	HuR, Hua, MelG	uc002mjb.3	Q15717		ENST00000407627.2:c.469C>T	19.37:g.8032636G>A	ENSP00000385269:p.Arg157Trp						p.R157W	NM_001419	NP_001410	Q15717	ELAV1_HUMAN			5	636	-			157			RRM 2.		B4DVB8|Q53XN6|Q9BTT1	Missense_Mutation	SNP	ENST00000407627.2	37	c.469C>T	CCDS12193.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154939	0.57259	.	.	ENSG00000066044	ENST00000407627;ENST00000351593	T;T	0.16897	2.31;2.31	6.17	5.12	0.69794	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.30634	0.0771	M	0.88570	2.965	0.80722	D	1	D	0.57899	0.981	P	0.45506	0.483	T	0.24476	-1.0159	10	0.87932	D	0	.	11.3388	0.49520	0.0:0.0:0.712:0.288	.	157	Q15717	ELAV1_HUMAN	W	157;184	ENSP00000385269:R157W;ENSP00000264073:R184W	ENSP00000264073:R184W	R	-	1	2	ELAVL1	7938636	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.545000	0.60698	2.941000	0.99782	0.655000	0.94253	CGG		0.468	ELAVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461494.3	NM_001419		23	32	0	0	0	0	23	32				
CALR	811	broad.mit.edu	37	19	13054358	13054358	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr19:13054358C>T	ENST00000316448.5	+	8	1041	c.968C>T	c.(967-969)tCt>tTt	p.S323F	CTC-425F1.4_ENST00000589120.1_RNA|RAD23A_ENST00000541222.1_5'Flank|RAD23A_ENST00000592268.1_5'Flank|RAD23A_ENST00000586534.1_5'Flank|RAD23A_ENST00000316856.3_5'Flank	NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	323	C-domain.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|cellular response to lithium ion (GO:0071285)|cellular senescence (GO:0090398)|chaperone-mediated protein folding (GO:0061077)|cortical actin cytoskeleton organization (GO:0030866)|endoplasmic reticulum unfolded protein response (GO:0030968)|glucocorticoid receptor signaling pathway (GO:0042921)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|peptide antigen assembly with MHC class I protein complex (GO:0002502)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of phagocytosis (GO:0050766)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|post-translational protein modification (GO:0043687)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein localization to nucleus (GO:0034504)|protein maturation by protein folding (GO:0022417)|protein N-linked glycosylation via asparagine (GO:0018279)|protein stabilization (GO:0050821)|regulation of apoptotic process (GO:0042981)|regulation of meiosis (GO:0040020)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to testosterone (GO:0033574)|sequestering of calcium ion (GO:0051208)|spermatogenesis (GO:0007283)	acrosomal vesicle (GO:0001669)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|intracellular (GO:0005622)|membrane (GO:0016020)|MHC class I peptide loading complex (GO:0042824)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasmic reticulum (GO:0016529)	androgen receptor binding (GO:0050681)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|chaperone binding (GO:0051087)|complement component C1q binding (GO:0001849)|DNA binding (GO:0003677)|glycoprotein binding (GO:0001948)|hormone binding (GO:0042562)|integrin binding (GO:0005178)|iron ion binding (GO:0005506)|mRNA binding (GO:0003729)|peptide binding (GO:0042277)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Antihemophilic Factor(DB00025)|Melatonin(DB01065)|Tenecteplase(DB00031)	CAGGTCAAGTCTGGCACCATC	0.512																																						uc002mvu.2		NA																	0				ovary(1)	1						c.(967-969)TCT>TTT		calreticulin precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)						170.0	126.0	141.0					19																	13054358		2203	4300	6503	SO:0001583	missense	811				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding	g.chr19:13054358C>T	M84739	CCDS12288.1	19p13.3-p13.2	2014-09-17				ENSG00000179218			1455	protein-coding gene	gene with protein product	"""Sicca syndrome antigen A (autoantigen Ro; calreticulin)"", ""autoantigen Ro"""	109091				2365822	Standard	NM_004343		Approved	RO, SSA, cC1qR, CRT, FLJ26680	uc002mvu.2	P27797		ENST00000316448.5:c.968C>T	19.37:g.13054358C>T	ENSP00000320866:p.Ser323Phe					CALR_uc002mvv.2_5'Flank|RAD23A_uc002mvw.1_5'Flank|RAD23A_uc002mvx.1_5'Flank|RAD23A_uc002mvz.1_5'Flank|RAD23A_uc002mwa.1_5'Flank|RAD23A_uc002mvy.1_5'Flank|RAD23A_uc010xmw.1_5'Flank	p.S323F	NM_004343	NP_004334	P27797	CALR_HUMAN			8	1048	+			323			C-domain.		Q6IAT4|Q9UDG2	Missense_Mutation	SNP	ENST00000316448.5	37	c.968C>T	CCDS12288.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.222329	0.79464	.	.	ENSG00000179218	ENST00000316448;ENST00000539083	T	0.54071	0.59	5.27	5.27	0.74061	Concanavalin A-like lectin/glucanase (1);	0.000000	0.85682	D	0.000000	T	0.74222	0.3688	H	0.97415	4	0.80722	D	1	P	0.41624	0.757	P	0.44359	0.447	D	0.84098	0.0394	10	0.87932	D	0	-18.0419	17.679	0.88237	0.0:1.0:0.0:0.0	.	323	P27797	CALR_HUMAN	F	323;202	ENSP00000320866:S323F	ENSP00000320866:S323F	S	+	2	0	CALR	12915358	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.638000	0.83328	2.460000	0.83146	0.561000	0.74099	TCT		0.512	CALR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451952.1	NM_004343		10	25	0	0	0	0	10	25				
PIK3R2	5296	broad.mit.edu	37	19	18278008	18278008	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr19:18278008A>T	ENST00000593731.1	+	13	2188	c.1628A>T	c.(1627-1629)gAg>gTg	p.E543V	PIK3R2_ENST00000222254.8_Missense_Mutation_p.E543V			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	543					blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	ACGAAGCTGGAGCAGCAGCTG	0.637																																						uc002nia.1		NA																	0				lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)	6						c.(1627-1629)GAG>GTG		phosphoinositide-3-kinase, regulatory subunit 2							54.0	57.0	56.0					19																	18278008		2202	4300	6502	SO:0001583	missense	5296				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding	g.chr19:18278008A>T		CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"""SH2 domain containing"""	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.1628A>T	19.37:g.18278008A>T	ENSP00000471914:p.Glu543Val					PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA	p.E543V	NM_005027	NP_005018	O00459	P85B_HUMAN			13	2140	+			543					Q5EAT5|Q9UPH9	Missense_Mutation	SNP	ENST00000593731.1	37	c.1628A>T	CCDS12371.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.145588	0.77888	.	.	ENSG00000105647	ENST00000222254	T	0.34667	1.35	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.63070	0.2480	M	0.85630	2.765	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.70407	-0.4880	10	0.87932	D	0	-34.3459	13.7977	0.63182	1.0:0.0:0.0:0.0	.	543	O00459	P85B_HUMAN	V	543	ENSP00000222254:E543V	ENSP00000222254:E543V	E	+	2	0	PIK3R2	18139008	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.150000	0.94667	2.000000	0.58554	0.459000	0.35465	GAG		0.637	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000466386.2	NM_005027		22	29	0	0	0	0	22	29				
LGI4	163175	broad.mit.edu	37	19	35617874	35617874	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr19:35617874G>A	ENST00000310123.3	-	7	1195	c.676C>T	c.(676-678)Ccc>Tcc	p.P226S	LGI4_ENST00000493050.1_5'UTR|LGI4_ENST00000392225.3_Missense_Mutation_p.P226S	NM_139284.2	NP_644813.1	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	226					adult locomotory behavior (GO:0008344)|glial cell proliferation (GO:0014009)|myelination in peripheral nervous system (GO:0022011)|neuron maturation (GO:0042551)	extracellular space (GO:0005615)				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			TAGGAGAAGGGCTCTACGCTC	0.647																																						uc002nxx.2		NA																	0				pancreas(1)	1						c.(676-678)CCC>TCC		leucine-rich repeat LGI family, member 4							53.0	58.0	56.0					19																	35617874		2203	4300	6503	SO:0001583	missense	163175					extracellular region		g.chr19:35617874G>A	AJ487519	CCDS12444.1	19q13.13	2008-07-03			ENSG00000153902	ENSG00000153902			18712	protein-coding gene	gene with protein product		608303				12023020	Standard	NM_139284		Approved		uc002nxx.2	Q8N135	OTTHUMG00000044558	ENST00000310123.3:c.676C>T	19.37:g.35617874G>A	ENSP00000312273:p.Pro226Ser					LGI4_uc002nxy.1_Missense_Mutation_p.P54S|LGI4_uc002nxz.1_Missense_Mutation_p.P54S	p.P226S	NM_139284	NP_644813	Q8N135	LGI4_HUMAN	Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)		7	1270	-	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		226			EAR 1.		B2RN53|B9EGS7|Q5M8T1	Missense_Mutation	SNP	ENST00000310123.3	37	c.676C>T	CCDS12444.1	.	.	.	.	.	.	.	.	.	.	G	3.831	-0.035809	0.07497	.	.	ENSG00000153902	ENST00000310123;ENST00000392225;ENST00000437421	D;D	0.81821	-1.54;-1.54	3.94	-6.29	0.02013	.	1.313230	0.05147	N	0.495355	T	0.52322	0.1727	N	0.08118	0	0.58432	D	0.999998	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.47497	-0.9113	10	0.17369	T	0.5	.	0.2717	0.00232	0.3235:0.2524:0.2114:0.2127	.	137;226	Q658V8;Q8N135	.;LGI4_HUMAN	S	226	ENSP00000312273:P226S;ENSP00000376059:P226S	ENSP00000312273:P226S	P	-	1	0	LGI4	40309714	0.253000	0.23982	0.663000	0.29738	0.237000	0.25408	-0.562000	0.05950	-0.704000	0.05042	0.313000	0.20887	CCC		0.647	LGI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103963.1			16	16	0	0	0	0	16	16				
ZNF573	126231	broad.mit.edu	37	19	38230129	38230129	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr19:38230129T>G	ENST00000590414.2	-	4	1283	c.1262A>C	c.(1261-1263)aAg>aCg	p.K421T	ZNF573_ENST00000339503.4_Missense_Mutation_p.K363T|ZNF573_ENST00000392138.1_Missense_Mutation_p.K334T|ZNF573_ENST00000357309.3_Missense_Mutation_p.K333T|ZNF573_ENST00000536220.1_Missense_Mutation_p.K333T			Q86YE8	ZN573_HUMAN	zinc finger protein 573	421					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			GCTAAAGGCCTTTCCGCATTC	0.378																																						uc002ohe.2		NA																	0				ovary(1)	1						c.(1261-1263)AAG>ACG		zinc finger protein 573							143.0	144.0	144.0					19																	38230129		2203	4300	6503	SO:0001583	missense	126231				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38230129T>G	AK074539	CCDS12508.1, CCDS54260.1, CCDS59381.1	19q13.12	2013-09-20			ENSG00000189144	ENSG00000189144		"""Zinc fingers, C2H2-type"", ""-"""	26420	protein-coding gene	gene with protein product						12477932	Standard	NM_152360		Approved	FLJ30921	uc002ohe.3	Q86YE8	OTTHUMG00000048183	ENST00000590414.2:c.1262A>C	19.37:g.38230129T>G	ENSP00000465020:p.Lys421Thr					ZNF573_uc010efs.2_Missense_Mutation_p.K334T|ZNF573_uc002ohd.2_Missense_Mutation_p.K419T|ZNF573_uc002ohf.2_Missense_Mutation_p.K363T|ZNF573_uc002ohg.2_Missense_Mutation_p.K333T	p.K421T	NM_152360	NP_689573	Q86YE8	ZN573_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)		4	1284	-			401			C2H2-type 11.		B7WPE1|K7EJ45|Q6P1P1|Q7Z7Q3|Q8N2Q1|Q96BM3|Q96NH0	Missense_Mutation	SNP	ENST00000590414.2	37	c.1262A>C	CCDS59381.1	.	.	.	.	.	.	.	.	.	.	T	10.08	1.251498	0.22880	.	.	ENSG00000189144	ENST00000392138;ENST00000536220;ENST00000357309;ENST00000339503;ENST00000427026	T;T;T;T	0.27890	1.64;1.64;1.64;1.64	2.19	1.14	0.20703	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.54870	0.1885	M	0.88377	2.95	0.23156	N	0.998206	D;D;D;D	0.71674	0.998;0.998;0.998;0.998	D;D;D;D	0.71414	0.954;0.954;0.973;0.954	T	0.41360	-0.9513	9	0.72032	D	0.01	.	6.1555	0.20335	0.0:0.1407:0.0:0.8593	.	334;363;401;333	Q86YE8-4;Q86YE8-3;Q86YE8;Q86YE8-2	.;.;ZN573_HUMAN;.	T	334;333;333;363;333	ENSP00000375983:K334T;ENSP00000440464:K333T;ENSP00000349861:K333T;ENSP00000340171:K363T	ENSP00000340171:K363T	K	-	2	0	ZNF573	42921969	0.820000	0.29190	0.579000	0.28588	0.066000	0.16364	1.547000	0.36190	0.019000	0.15079	-0.359000	0.07587	AAG		0.378	ZNF573-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459773.2	NM_152360		66	198	0	0	0	0	66	198				
ZNF814	730051	broad.mit.edu	37	19	58384572	58384572	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr19:58384572T>C	ENST00000435989.2	-	3	2420	c.2186A>G	c.(2185-2187)tAc>tGc	p.Y729C	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	729					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGAGTTGGTACTTGTTTCT	0.378																																						uc002qqo.2		NA																	0					0						c.(2185-2187)TAC>TGC		zinc finger protein 814							73.0	61.0	65.0					19																	58384572		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58384572T>C		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.2186A>G	19.37:g.58384572T>C	ENSP00000410545:p.Tyr729Cys					ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron	p.Y729C	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN			3	2458	-			729			C2H2-type 19.		A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.2186A>G	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	2.978	-0.211028	0.06140	.	.	ENSG00000204514	ENST00000435989	T	0.07908	3.15	1.08	-2.17	0.07059	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04497	0.0123	N	0.05487	-0.04	0.09310	N	1	P	0.42785	0.79	B	0.43728	0.429	T	0.32693	-0.9897	9	0.66056	D	0.02	.	4.1108	0.10058	0.0:0.3549:0.4371:0.2079	.	729	B7Z6K7	ZN814_HUMAN	C	729	ENSP00000410545:Y729C	ENSP00000410545:Y729C	Y	-	2	0	ZNF814	63076384	0.000000	0.05858	0.000000	0.03702	0.089000	0.18198	-1.558000	0.02164	-0.569000	0.06030	0.254000	0.18369	TAC		0.378	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		4	8	0	0	0	0	4	8				
MYCN	4613	broad.mit.edu	37	2	16085953	16085953	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr2:16085953T>A	ENST00000281043.3	+	3	1426	c.1129T>A	c.(1129-1131)Tcg>Acg	p.S377T		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	377					branching morphogenesis of an epithelial tube (GO:0048754)|cartilage condensation (GO:0001502)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|lung development (GO:0030324)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cell death (GO:0010942)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin (GO:0000785)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			AAACTCTGACTCGGAGGACAG	0.607			A		neuroblastoma																																	uc002rci.2		NA		Dom	yes		2	2p24.1	4613	A	"""v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)"""			O			neuroblastoma		0				central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5						c.(1129-1131)TCG>ACG		v-myc myelocytomatosis viral related oncogene,							55.0	58.0	57.0					2																	16085953		2202	4300	6502	SO:0001583	missense	4613				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:16085953T>A	BC002712	CCDS1687.1	2p24.3	2013-08-14	2013-07-09		ENSG00000134323	ENSG00000134323		"""Basic helix-loop-helix proteins"""	7559	protein-coding gene	gene with protein product		164840		NMYC			Standard	XM_006711886		Approved	bHLHe37, N-myc, MYCNOT	uc002rci.3	P04198	OTTHUMG00000039579	ENST00000281043.3:c.1129T>A	2.37:g.16085953T>A	ENSP00000281043:p.Ser377Thr					MYCN_uc010yjr.1_Missense_Mutation_p.S369T	p.S377T	NM_005378	NP_005369	P04198	MYCN_HUMAN	GBM - Glioblastoma multiforme(3;0.000332)		3	1429	+	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		377					Q53XS5|Q6LDT9	Missense_Mutation	SNP	ENST00000281043.3	37	c.1129T>A	CCDS1687.1	.	.	.	.	.	.	.	.	.	.	T	15.52	2.857851	0.51376	.	.	ENSG00000134323	ENST00000281043;ENST00000426211	T	0.80653	-1.4	4.99	4.99	0.66335	Helix-loop-helix DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.86464	0.5939	L	0.55017	1.72	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	D	0.85800	0.1373	10	0.38643	T	0.18	-13.0881	14.9996	0.71462	0.0:0.0:0.0:1.0	.	377	P04198	MYCN_HUMAN	T	377;295	ENSP00000281043:S377T	ENSP00000281043:S377T	S	+	1	0	MYCN	16003404	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.069000	0.41481	2.027000	0.59764	0.533000	0.62120	TCG		0.607	MYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095469.2	NM_005378		34	31	0	0	0	0	34	31				
NT5C1B	93034	broad.mit.edu	37	2	18766048	18766048	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr2:18766048T>C	ENST00000359846.2	-	5	712	c.635A>G	c.(634-636)aAt>aGt	p.N212S	RNU6-1215P_ENST00000384441.1_RNA|NT5C1B_ENST00000304081.4_Missense_Mutation_p.N152S|NT5C1B_ENST00000600945.1_Missense_Mutation_p.N212S|NT5C1B_ENST00000460052.1_5'Flank|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.N212S	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	212					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				GGCCTCCGGATTCTCTTGCAT	0.701																																						uc002rcz.2		NA																	0				skin(2)|ovary(1)	3						c.(634-636)AAT>AGT		5' nucleotidase, cytosolic IB isoform 1							21.0	24.0	23.0					2																	18766048		2200	4295	6495	SO:0001583	missense	93034				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding	g.chr2:18766048T>C	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.635A>G	2.37:g.18766048T>C	ENSP00000352904:p.Asn212Ser					NT5C1B_uc002rcy.2_Missense_Mutation_p.N212S|NT5C1B_uc010exr.2_Missense_Mutation_p.N154S|NT5C1B_uc010yju.1_Missense_Mutation_p.N152S|NT5C1B_uc002rda.2_Missense_Mutation_p.N152S|NT5C1B_uc010yjv.1_Missense_Mutation_p.N229S|NT5C1B_uc010yjw.1_Missense_Mutation_p.N195S|NT5C1B_uc010exs.2_Missense_Mutation_p.N214S|NT5C1B_uc002rdb.1_Missense_Mutation_p.N4S	p.N212S	NM_001002006	NP_001002006	Q96P26	5NT1B_HUMAN			5	739	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)	212					B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	ENST00000359846.2	37	c.635A>G	CCDS33150.1	.	.	.	.	.	.	.	.	.	.	T	12.73	2.024234	0.35701	.	.	ENSG00000250741;ENSG00000250741;ENSG00000185013;ENSG00000185013	ENST00000532967;ENST00000444297;ENST00000304081;ENST00000359846	D	0.89343	-2.5	4.21	-8.43	0.00953	.	1.064090	0.07404	N	0.891233	T	0.72495	0.3467	N	0.24115	0.695	0.09310	N	1	B;B;B;B;B;B;B;B;B	0.15719	0.013;0.013;0.014;0.013;0.001;0.004;0.01;0.006;0.01	B;B;B;B;B;B;B;B;B	0.14023	0.007;0.007;0.006;0.007;0.001;0.007;0.01;0.004;0.01	T	0.59445	-0.7453	10	0.15952	T	0.53	-12.4171	2.4445	0.04502	0.2058:0.2307:0.4158:0.1477	.	195;229;152;195;154;4;152;212;212	E7EXB7;B4DZ86;B4DXQ9;B4DXZ9;C9J2C7;Q96P26-3;Q96P26-2;Q96P26;Q96P26-4	.;.;.;.;.;.;.;5NT1B_HUMAN;.	S	212;154;152;212	ENSP00000412639:N154S	ENSP00000305979:N152S	N	-	2	0	NT5C1B-RDH14;NT5C1B	18629529	0.000000	0.05858	0.000000	0.03702	0.106000	0.19336	-1.876000	0.01633	-1.260000	0.02465	0.379000	0.24179	AAT		0.701	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1			13	30	0	0	0	0	13	30				
C2orf61	285051	broad.mit.edu	37	2	47382368	47382368	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr2:47382368G>A	ENST00000445927.2	-	1	149	c.23C>T	c.(22-24)aCc>aTc	p.T8I	RP11-761B3.1_ENST00000422269.1_Intron|C2orf61_ENST00000294947.2_Missense_Mutation_p.T8I	NM_001163561.1	NP_001157033.1	Q8N801	CB061_HUMAN	chromosome 2 open reading frame 61	8								p.0?(2)		endometrium(1)|kidney(1)|lung(2)	4		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GGTGGAAGCGGTGGCGACGGC	0.642																																						uc002rvs.2		NA																	2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)		0						c.(22-24)ACC>ATC		hypothetical protein LOC285051 isoform 2							98.0	82.0	87.0					2																	47382368		2203	4300	6503	SO:0001583	missense	285051							g.chr2:47382368G>A	AK097491	CCDS1831.1, CCDS54356.1	2p21	2008-02-05			ENSG00000239605	ENSG00000239605			26850	protein-coding gene	gene with protein product							Standard	NM_173649		Approved	FLJ40172	uc010yog.2	Q8N801	OTTHUMG00000128851	ENST00000445927.2:c.23C>T	2.37:g.47382368G>A	ENSP00000408527:p.Thr8Ile					C2orf61_uc010fbd.2_Intron|C2orf61_uc010yog.1_Missense_Mutation_p.T8I	p.T8I	NM_173649	NP_775920	Q8N801	CB061_HUMAN	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		1	150	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	8					H7C2Z2	Missense_Mutation	SNP	ENST00000445927.2	37	c.23C>T	CCDS54356.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.827331	0.00584	.	.	ENSG00000239605	ENST00000445927;ENST00000294947	T;T	0.28454	1.61;1.63	3.42	-2.59	0.06209	.	.	.	.	.	T	0.06325	0.0163	N	0.00926	-1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32929	-0.9888	9	0.02654	T	1	-0.826	2.3554	0.04294	0.4028:0.0:0.2317:0.3655	.	8	Q8N801	CB061_HUMAN	I	8	ENSP00000408527:T8I;ENSP00000294947:T8I	ENSP00000294947:T8I	T	-	2	0	C2orf61	47235872	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.107000	0.15375	-0.410000	0.07542	-0.459000	0.05422	ACC		0.642	C2orf61-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173649		21	28	0	0	0	0	21	28				
OTX1	5013	broad.mit.edu	37	2	63283436	63283436	+	Silent	SNP	G	G	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr2:63283436G>T	ENST00000282549.2	+	5	1326	c.1050G>T	c.(1048-1050)cgG>cgT	p.R350R	OTX1_ENST00000366671.3_Silent_p.R350R	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	350					anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					CCTCATGGCGGTTCCAGGTCT	0.592																																						uc002scd.2		NA																	0				pancreas(2)	2						c.(1048-1050)CGG>CGT		orthodenticle homeobox 1							41.0	44.0	43.0					2																	63283436		2203	4300	6503	SO:0001819	synonymous_variant	5013					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:63283436G>T		CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"""Homeoboxes / PRD class"""	8521	protein-coding gene	gene with protein product		600036	"""orthodenticle (Drosophila) homolog 1"", ""orthodenticle homolog 1 (Drosophila)"""			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.1050G>T	2.37:g.63283436G>T						OTX1_uc010ypt.1_Silent_p.R284R	p.R350R	NM_014562	NP_055377	P32242	OTX1_HUMAN			5	1298	+	Lung NSC(7;0.121)|all_lung(7;0.211)		350					A6NHA2|B3KTJ4|Q53TG6	Silent	SNP	ENST00000282549.2	37	c.1050G>T	CCDS1873.1																																																																																				0.592	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1			6	34	1	0	2.01e-06	4.57e-06	6	34				
SAP130	79595	broad.mit.edu	37	2	128712714	128712714	+	Silent	SNP	C	C	T	rs199719276		TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr2:128712714C>T	ENST00000259235.3	-	15	2370	c.2241G>A	c.(2239-2241)gcG>gcA	p.A747A	SAP130_ENST00000259234.6_Silent_p.A755A|SAP130_ENST00000357702.5_Silent_p.A782A	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	747	Pro-rich.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)	p.A747A(1)|p.A782A(1)		NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TGATGGGGACCGCTCCAGGAA	0.607																																						uc002tpp.2		NA																	2	Substitution - coding silent(2)		endometrium(2)	ovary(2)|skin(2)	4						c.(2239-2241)GCG>GCA		Sin3A-associated protein, 130kDa isoform b		C	,	0,4406		0,0,2203	175.0	155.0	162.0		2346,2241	-10.4	0.1	2		162	3,8597	3.0+/-9.4	0,3,4297	yes	coding-synonymous,coding-synonymous	SAP130	NM_001145928.1,NM_024545.3	,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,	782/1084,747/1049	128712714	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	79595				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:128712714C>T	BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.2241G>A	2.37:g.128712714C>T						SAP130_uc002tpn.2_Silent_p.A507A|SAP130_uc002tpo.2_Silent_p.A527A|SAP130_uc010fmd.2_Silent_p.A782A|SAP130_uc002tpq.1_Silent_p.A755A	p.A747A	NM_024545	NP_078821	Q9H0E3	SP130_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0771)	15	2373	-	Colorectal(110;0.1)		747			Pro-rich.		B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Silent	SNP	ENST00000259235.3	37	c.2241G>A	CCDS2153.1																																																																																				0.607	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		13	75	0	0	0	0	13	75				
LRP1B	53353	broad.mit.edu	37	2	141294272	141294272	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr2:141294272T>A	ENST00000389484.3	-	46	8491	c.7520A>T	c.(7519-7521)aAt>aTt	p.N2507I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2507					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCAGGAGGAATTTTTAGCTGC	0.328										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(7519-7521)AAT>ATT		low density lipoprotein-related protein 1B							60.0	58.0	58.0					2																	141294272		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141294272T>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.7520A>T	2.37:g.141294272T>A	ENSP00000374135:p.Asn2507Ile	TSP Lung(27;0.18)					p.N2507I	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	46	8492	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2507			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.7520A>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.147041	0.77888	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90788	-2.73	5.3	5.3	0.74995	.	0.062472	0.64402	D	0.000008	D	0.94398	0.8198	M	0.81682	2.555	0.80722	D	1	D	0.58268	0.982	P	0.60473	0.875	D	0.93944	0.7226	10	0.38643	T	0.18	.	15.2535	0.73568	0.0:0.0:0.0:1.0	.	2507	Q9NZR2	LRP1B_HUMAN	I	2507;2445	ENSP00000374135:N2507I	ENSP00000374135:N2507I	N	-	2	0	LRP1B	141010742	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	4.962000	0.63687	2.015000	0.59207	0.528000	0.53228	AAT		0.328	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		11	19	0	0	0	0	11	19				
NOSTRIN	115677	broad.mit.edu	37	2	169690790	169690790	+	Silent	SNP	T	T	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr2:169690790T>C	ENST00000317647.7	+	7	688	c.459T>C	c.(457-459)ctT>ctC	p.L153L	NOSTRIN_ENST00000445023.2_Silent_p.L75L|NOSTRIN_ENST00000397209.2_Silent_p.L125L|NOSTRIN_ENST00000458381.2_Silent_p.L153L|NOSTRIN_ENST00000444448.2_Silent_p.L153L|NOSTRIN_ENST00000397206.2_Silent_p.L75L|NOSTRIN_ENST00000421711.2_Silent_p.L125L	NM_001039724.3	NP_001034813.2	Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	153					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						TTTTCCAGCTTGTAGAAAGCT	0.443																																						uc002ueg.2		NA																	0					0						c.(457-459)CTT>CTC		nitric oxide synthase trafficker isoform 2							92.0	84.0	87.0					2																	169690790		2009	4177	6186	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.chr2:169690790T>C	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.459T>C	2.37:g.169690790T>C						NOSTRIN_uc002uef.2_Silent_p.L153L|NOSTRIN_uc002uei.2_Silent_p.L36L|NOSTRIN_uc010fpu.2_Silent_p.L125L|NOSTRIN_uc002ueh.2_Silent_p.L75L|NOSTRIN_uc002uej.2_Silent_p.L36L	p.L153L	NM_001039724	NP_001034813	Q8IVI9	NOSTN_HUMAN			7	463	+			153					A8K2I9|B3KSF5|E7EPT9|Q27HG3|Q53S62|Q96CJ9	Silent	SNP	ENST00000317647.7	37	c.459T>C	CCDS42771.1																																																																																				0.443	NOSTRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333356.4	NM_052946		9	28	0	0	0	0	9	28				
TTN	7273	broad.mit.edu	37	2	179612845	179612845	+	Intron	SNP	C	C	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr2:179612845C>A	ENST00000591111.1	-	45	10585				TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.S4761I|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAGATGGAACTTCTGCCTCC	0.408																																						uc002unb.2		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(14281-14283)AGT>ATT		titin isoform novex-3							75.0	74.0	74.0					2																	179612845		2203	4297	6500	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179612845C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+5005G>T	2.37:g.179612845C>A						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.S4761I	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	14506	-			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.14282G>T		.	.	.	.	.	.	.	.	.	.	C	16.53	3.148480	0.57151	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.59772	0.24	5.52	2.77	0.32553	.	.	.	.	.	T	0.52468	0.1736	L	0.47716	1.5	0.45464	D	0.998431	P	0.46512	0.879	P	0.46253	0.509	T	0.51317	-0.8721	9	0.87932	D	0	.	7.5261	0.27656	0.0:0.6072:0.2528:0.1399	.	4761	Q8WZ42-6	.	I	4761;75	ENSP00000354117:S4761I	ENSP00000304714:S75I	S	-	2	0	TTN	179321090	0.986000	0.35501	0.798000	0.32154	0.564000	0.35744	0.574000	0.23714	0.443000	0.26582	0.650000	0.86243	AGT		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		24	35	1	0	2.32e-17	5.57e-17	24	35				
TNS1	7145	broad.mit.edu	37	2	218674659	218674659	+	Silent	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr2:218674659C>T	ENST00000171887.4	-	30	5300	c.4848G>A	c.(4846-4848)caG>caA	p.Q1616Q	TNS1_ENST00000419504.1_Silent_p.Q1602Q|TNS1_ENST00000430930.1_Silent_p.Q1595Q	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1616					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TAGAGATGGCCTGTGGCCCAG	0.572																																						uc002vgt.2		NA																	0				ovary(3)|breast(1)	4						c.(4846-4848)CAG>CAA		tensin							85.0	80.0	82.0					2																	218674659		2203	4300	6503	SO:0001819	synonymous_variant	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218674659C>T	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.4848G>A	2.37:g.218674659C>T						TNS1_uc002vgr.2_Silent_p.Q1602Q|TNS1_uc002vgs.2_Silent_p.Q1595Q|TNS1_uc002vgq.2_Silent_p.Q116Q	p.Q1616Q	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	30	5246	-		Renal(207;0.0483)|Lung NSC(271;0.213)	1616					Q4ZG71|Q6IPI5	Silent	SNP	ENST00000171887.4	37	c.4848G>A	CCDS2407.1																																																																																				0.572	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		15	14	0	0	0	0	15	14				
SIRPB1	10326	broad.mit.edu	37	20	1551507	1551507	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr20:1551507C>T	ENST00000381605.4	-	4	1092	c.1028G>A	c.(1027-1029)aGc>aAc	p.S343N	SIRPB1_ENST00000262929.5_Intron|SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	343	Ig-like C1-type 2.				cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CAGGGCATAGCTTTTGCTGAC	0.512																																						uc010gai.2		NA																	0				ovary(1)	1						c.(1027-1029)AGC>AAC		signal-regulatory protein beta 1 isoform 1							192.0	177.0	182.0					20																	1551507		2203	4300	6503	SO:0001583	missense	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1551507C>T	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.1028G>A	20.37:g.1551507C>T	ENSP00000371018:p.Ser343Asn					SIRPB1_uc002wfk.3_Intron	p.S343N	NM_006065	NP_006056	O00241	SIRB1_HUMAN			4	1127	-			343			Ig-like C1-type 2.|Extracellular (Potential).		A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	c.1028G>A	CCDS13019.1	.	.	.	.	.	.	.	.	.	.	.	0.016	-1.525145	0.00959	.	.	ENSG00000101307	ENST00000381605	T	0.02197	4.4	1.96	-3.91	0.04168	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.608910	0.03224	N	0.177995	T	0.01254	0.0041	N	0.10707	0.03	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.46707	-0.9172	10	0.15066	T	0.55	.	3.9653	0.09429	0.0:0.3805:0.1894:0.4301	.	343	O00241	SIRB1_HUMAN	N	343	ENSP00000371018:S343N	ENSP00000371018:S343N	S	-	2	0	SIRPB1	1499507	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	0.046000	0.14035	-1.174000	0.02754	0.462000	0.41574	AGC		0.512	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		31	125	0	0	0	0	31	125				
TGM3	7053	broad.mit.edu	37	20	2315841	2315841	+	Silent	SNP	G	G	A	rs201706734		TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr20:2315841G>A	ENST00000381458.5	+	11	1785	c.1722G>A	c.(1720-1722)gcG>gcA	p.A574A		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	574					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GGATCACAGCGGTGTGCAAGG	0.552																																						uc002wfx.3		NA																	0				large_intestine(4)|ovary(3)|breast(1)|skin(1)	9						c.(1720-1722)GCG>GCA		transglutaminase 3 precursor	L-Glutamine(DB00130)	G		0,4406		0,0,2203	171.0	135.0	147.0		1722	-2.4	0.5	20		147	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TGM3	NM_003245.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		574/694	2315841	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7053				cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2315841G>A	L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"""Transglutaminases"""	11779	protein-coding gene	gene with protein product	"""E polypeptide, protein-glutamine-gamma-glutamyltransferase"""	600238	"""transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.1722G>A	20.37:g.2315841G>A							p.A574A	NM_003245	NP_003236	Q08188	TGM3_HUMAN			11	1819	+			574					A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Silent	SNP	ENST00000381458.5	37	c.1722G>A	CCDS33435.1																																																																																				0.552	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	NM_003245		34	42	0	0	0	0	34	42				
PLCB1	23236	broad.mit.edu	37	20	8709798	8709798	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr20:8709798T>C	ENST00000338037.6	+	18	1892	c.1865T>C	c.(1864-1866)gTg>gCg	p.V622A	PLCB1_ENST00000378637.2_Missense_Mutation_p.V622A|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378641.3_Missense_Mutation_p.V622A	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	622	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGTCAGATGGTGGCACTTAAT	0.413																																						uc002wnb.2		NA																	0				ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						c.(1864-1866)GTG>GCG		phosphoinositide-specific phospholipase C beta 1							162.0	133.0	143.0					20																	8709798		2203	4300	6503	SO:0001583	missense	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8709798T>C	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.1865T>C	20.37:g.8709798T>C	ENSP00000338185:p.Val622Ala					PLCB1_uc010zrb.1_Missense_Mutation_p.V521A|PLCB1_uc002wna.2_Missense_Mutation_p.V622A|PLCB1_uc002wnc.1_Missense_Mutation_p.V521A|PLCB1_uc002wnd.1_Missense_Mutation_p.V199A	p.V622A	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN			18	1868	+			622			PI-PLC Y-box.		D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	c.1865T>C	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.988433	0.93106	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.63417	-0.04;-0.04;-0.04	5.83	5.83	0.93111	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.000000	0.85682	D	0.000000	T	0.77343	0.4116	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.996;1.0	T	0.78909	-0.2018	10	0.62326	D	0.03	.	16.1982	0.82046	0.0:0.0:0.0:1.0	.	622;622	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	A	622;622;622;542;542	ENSP00000367908:V622A;ENSP00000338185:V622A;ENSP00000367904:V622A	ENSP00000338185:V622A	V	+	2	0	PLCB1	8657798	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	6.256000	0.72473	2.226000	0.72624	0.533000	0.62120	GTG		0.413	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			11	48	0	0	0	0	11	48				
U2AF1	7307	broad.mit.edu	37	21	44521539	44521539	+	Intron	SNP	T	T	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr21:44521539T>C	ENST00000291552.4	-	3	225				U2AF1_ENST00000380276.2_Missense_Mutation_p.I46V|U2AF1_ENST00000459639.1_Intron|U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000486519.1_Intron	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						TGAATCAAGATGGTCTGCGGG	0.388			Mis		"""CLL, MDS"""																																	uc002zda.1		NA		Dom	yes		21	21q22.3	7307		U2 small nuclear RNA auxiliary factor 1			L					0					0						c.(136-138)ATC>GTC		U2 small nuclear RNA auxillary factor 1 isoform							191.0	210.0	203.0					21																	44521539		2203	4300	6503	SO:0001627	intron_variant	7307				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr21:44521539T>C	BC001177	CCDS13694.1, CCDS33574.1, CCDS42948.1	21q22.3	2014-09-17	2006-04-11		ENSG00000160201	ENSG00000160201		"""RNA binding motif (RRM) containing"""	12453	protein-coding gene	gene with protein product		191317	"""U2(RNU2) small nuclear RNA auxiliary factor binding protein"", ""U2(RNU2) small nuclear RNA auxiliary factor 1"""	U2AFBP		8660980, 7956352	Standard	NM_006758		Approved	U2AF35, RNU2AF1, RN	uc002zdb.1	Q01081	OTTHUMG00000086836	ENST00000291552.4:c.133-910A>G	21.37:g.44521539T>C						U2AF1_uc002zcy.1_Intron|U2AF1_uc002zcz.1_5'UTR|U2AF1_uc002zdb.1_Intron|U2AF1_uc010gpi.1_Intron|U2AF1_uc002zdc.1_Missense_Mutation_p.I46V	p.I46V	NM_001025203	NP_001020374	Q01081	U2AF1_HUMAN			3	220	-			46					Q701P4|Q71RF1	Missense_Mutation	SNP	ENST00000291552.4	37	c.136A>G	CCDS13694.1	.	.	.	.	.	.	.	.	.	.	T	11.24	1.581514	0.28180	.	.	ENSG00000160201	ENST00000380276	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	T	0.47060	0.1425	.	.	.	0.80722	D	1	B;B	0.22414	0.0;0.069	B;B	0.18871	0.003;0.023	T	0.38929	-0.9638	7	0.30854	T	0.27	-13.2213	13.3552	0.60623	0.0:0.0:0.0:1.0	.	46;46	Q69YM7;Q701P4	.;.	V	46	.	ENSP00000369629:I46V	I	-	1	0	U2AF1	43394608	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.543000	0.73874	1.889000	0.54706	0.533000	0.62120	ATC		0.388	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195541.1	NM_006758		134	107	0	0	0	0	134	107				
IL2RB	3560	broad.mit.edu	37	22	37538536	37538536	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr22:37538536A>T	ENST00000216223.5	-	4	418	c.220T>A	c.(220-222)Tgt>Agt	p.C74S		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	74					cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	AGCAGCTCACAGGTTTGGTTC	0.582																																						uc003aqv.1		NA																	0					0						c.(220-222)TGT>AGT		interleukin 2 receptor beta precursor	Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)						96.0	91.0	92.0					22																	37538536		2203	4300	6503	SO:0001583	missense	3560				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity	g.chr22:37538536A>T	M26062	CCDS13942.1	22q13	2011-02-15			ENSG00000100385	ENSG00000100385		"""Interleukins and interleukin receptors"", ""CD molecules"""	6009	protein-coding gene	gene with protein product		146710	"""interleukin 15 receptor, beta"""	IL15RB			Standard	NM_000878		Approved	CD122	uc003aqv.1	P14784	OTTHUMG00000150534	ENST00000216223.5:c.220T>A	22.37:g.37538536A>T	ENSP00000216223:p.Cys74Ser						p.C74S	NM_000878	NP_000869	P14784	IL2RB_HUMAN			4	351	-			74			Extracellular (Potential).		B2R765	Missense_Mutation	SNP	ENST00000216223.5	37	c.220T>A	CCDS13942.1	.	.	.	.	.	.	.	.	.	.	a	17.11	3.304726	0.60305	.	.	ENSG00000100385	ENST00000216223;ENST00000453962;ENST00000429622;ENST00000445595	T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6	5.06	5.06	0.68205	Fibronectin, type III (1);	0.048455	0.85682	N	0.000000	T	0.79353	0.4431	M	0.68952	2.095	0.42288	D	0.992123	D	0.65815	0.995	P	0.62298	0.9	T	0.80457	-0.1374	10	0.49607	T	0.09	-10.2796	11.185	0.48650	1.0:0.0:0.0:0.0	.	74	P14784	IL2RB_HUMAN	S	74	ENSP00000216223:C74S;ENSP00000403731:C74S;ENSP00000402685:C74S;ENSP00000401020:C74S	ENSP00000216223:C74S	C	-	1	0	IL2RB	35868482	0.967000	0.33354	0.452000	0.26994	0.037000	0.13140	3.175000	0.50855	1.898000	0.54952	0.454000	0.30748	TGT		0.582	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318792.1			13	71	0	0	0	0	13	71				
TAB1	10454	broad.mit.edu	37	22	39832515	39832515	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr22:39832515G>A	ENST00000331454.3	+	11	1347	c.1328G>A	c.(1327-1329)aGc>aAc	p.S443N	TAB1_ENST00000488859.1_3'UTR	NM_153497.2	NP_705717.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	0					activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart morphogenesis (GO:0003007)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lung development (GO:0030324)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|protein complex (GO:0043234)	catalytic activity (GO:0003824)|enzyme activator activity (GO:0008047)|kinase activator activity (GO:0019209)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						AGGCCTGCAAGCGATTTGACA	0.527																																						uc003axu.1		NA																	0				breast(1)	1						c.(1327-1329)AGC>AAC		mitogen-activated protein kinase kinase kinase 7							87.0	87.0	87.0					22																	39832515		2203	4300	6503	SO:0001583	missense	10454				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding	g.chr22:39832515G>A	U49928	CCDS13992.1, CCDS13993.1	22q13.1	2010-02-05	2010-02-05	2010-02-05	ENSG00000100324	ENSG00000100324			18157	protein-coding gene	gene with protein product	"""TAK1-binding protein 1"", ""mitogen-activated protein kinase kinase kinase 7 interacting protein 1"""	602615	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 1"""	MAP3K7IP1		8638164, 10187861	Standard	NM_153497		Approved		uc003axt.3	Q15750	OTTHUMG00000151102	ENST00000331454.3:c.1328G>A	22.37:g.39832515G>A	ENSP00000333049:p.Ser443Asn						p.S443N	NM_153497	NP_705717	Q15750	TAB1_HUMAN			11	1377	+			Error:Variant_position_missing_in_Q15750_after_alignment					Q2PP09|Q8IZW2	Missense_Mutation	SNP	ENST00000331454.3	37	c.1328G>A	CCDS13992.1	.	.	.	.	.	.	.	.	.	.	G	4.096	0.015886	0.07959	.	.	ENSG00000100324	ENST00000331454	T	0.48201	0.82	1.49	-1.0	0.10196	.	.	.	.	.	T	0.29850	0.0746	.	.	.	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.16305	-1.0407	8	0.42905	T	0.14	.	4.1074	0.10043	0.168:0.0:0.612:0.22	.	443	Q15750-2	.	N	443	ENSP00000333049:S443N	ENSP00000333049:S443N	S	+	2	0	TAB1	38162461	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	0.107000	0.15375	-0.650000	0.05423	-2.630000	0.00154	AGC		0.527	TAB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000321314.1	NM_153497		9	104	0	0	0	0	9	104				
ATF4	468	broad.mit.edu	37	22	39917879	39917879	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr22:39917879G>A	ENST00000337304.2	+	2	1210	c.328G>A	c.(328-330)Gat>Aat	p.D110N	ATF4_ENST00000396680.1_Missense_Mutation_p.D110N|ATF4_ENST00000404241.2_Missense_Mutation_p.D110N	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	110					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular amino acid metabolic process (GO:0006520)|cellular protein metabolic process (GO:0044267)|circadian regulation of gene expression (GO:0032922)|endoplasmic reticulum unfolded protein response (GO:0030968)|gamma-aminobutyric acid signaling pathway (GO:0007214)|gluconeogenesis (GO:0006094)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990440)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|Lewy body core (GO:1990037)|neuron projection (GO:0043005)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)				Pseudoephedrine(DB00852)	AACCATGCCAGATGACCTTCT	0.517																																						uc003axz.2		NA																	0					0						c.(328-330)GAT>AAT		activating transcription factor 4							192.0	201.0	198.0					22																	39917879		2203	4300	6503	SO:0001583	missense	468				cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:39917879G>A	D90209	CCDS13996.1	22q13.1	2013-05-23	2013-05-23		ENSG00000128272	ENSG00000128272		"""basic leucine zipper proteins"""	786	protein-coding gene	gene with protein product	"""tax-responsive enhancer element B67"""	604064	"""activating transcription factor 4 (tax-responsive enhancer element B67)"""	TXREB		1847461, 1534408	Standard	NM_182810		Approved	TAXREB67, CREB-2	uc003axz.3	P18848	OTTHUMG00000151099	ENST00000337304.2:c.328G>A	22.37:g.39917879G>A	ENSP00000336790:p.Asp110Asn					ATF4_uc011aol.1_Missense_Mutation_p.D22N|ATF4_uc003aya.2_Missense_Mutation_p.D110N	p.D110N	NM_182810	NP_877962	P18848	ATF4_HUMAN			3	608	+	Melanoma(58;0.04)		110					Q9UH31	Missense_Mutation	SNP	ENST00000337304.2	37	c.328G>A	CCDS13996.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.071446	0.76301	.	.	ENSG00000128272	ENST00000404241;ENST00000337304;ENST00000396680	T;T;T	0.44482	0.92;0.92;0.92	4.64	3.52	0.40303	.	0.392655	0.29775	N	0.011225	T	0.46014	0.1371	M	0.72118	2.19	0.44880	D	0.997896	B	0.33583	0.418	B	0.35607	0.206	T	0.58572	-0.7613	10	0.87932	D	0	-25.3235	15.3273	0.74176	0.0:0.0:0.8504:0.1496	.	110	P18848	ATF4_HUMAN	N	110	ENSP00000384587:D110N;ENSP00000336790:D110N;ENSP00000379912:D110N	ENSP00000336790:D110N	D	+	1	0	ATF4	38247825	1.000000	0.71417	0.992000	0.48379	0.970000	0.65996	6.195000	0.72088	2.122000	0.65172	0.561000	0.74099	GAT		0.517	ATF4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321305.1	NM_001675		47	211	0	0	0	0	47	211				
GRIP2	80852	broad.mit.edu	37	3	14552798	14552798	+	RNA	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr3:14552798C>T	ENST00000273083.3	-	0	1872							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						TAGCTTGTCGCCTGGCTCCAG	0.617																																						uc011avi.1		NA																	0				pancreas(1)	1						c.(2101-2103)GGC>GAC		glutamate receptor interacting protein 2							74.0	78.0	77.0					3																	14552798		2097	4225	6322			80852				synaptic transmission	cytosol|plasma membrane	protein binding	g.chr3:14552798C>T	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14552798C>T						GRIP2_uc010heh.2_RNA|GRIP2_uc011avh.1_Missense_Mutation_p.G232D	p.G701D	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN			17	2102	-			603			PDZ 5.		Q8TEH9|Q9H7H3	Missense_Mutation	SNP	ENST00000273083.3	37	c.2102G>A																																																																																					0.617	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423		21	21	0	0	0	0	21	21				
USP4	7375	broad.mit.edu	37	3	49329942	49329942	+	Splice_Site	SNP	C	C	G			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr3:49329942C>G	ENST00000265560.4	-	15	2019		c.e15+1		USP4_ENST00000351842.4_Splice_Site	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)						negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TGCATACTCACCTTCACAGCT	0.512																																						uc003cwq.2		NA																	0				ovary(2)|urinary_tract(1)|lung(1)	4						c.e15+1		ubiquitin specific protease 4 isoform a							54.0	51.0	52.0					3																	49329942		2203	4300	6503	SO:0001630	splice_region_variant	7375				negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:49329942C>G	U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"""Ubiquitin-specific peptidases"""	12627	protein-coding gene	gene with protein product		603486	"""ubiquitin specific protease 4 (proto-oncogene)"""	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.1972+1G>C	3.37:g.49329942C>G						USP4_uc003cwo.2_Splice_Site_p.G370_splice|USP4_uc003cwp.2_Splice_Site_p.G388_splice|USP4_uc003cwr.2_Splice_Site_p.G611_splice	p.G658_splice	NM_003363	NP_003354	Q13107	UBP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)	15	2051	-		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)						A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Splice_Site	SNP	ENST00000265560.4	37	c.1972_splice	CCDS2793.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.678026	0.29783	.	.	ENSG00000114316	ENST00000351842;ENST00000265560;ENST00000431357	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8596	0.88777	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	USP4	49304946	1.000000	0.71417	1.000000	0.80357	0.107000	0.19398	4.865000	0.62998	2.626000	0.88956	0.563000	0.77884	.		0.512	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1	NM_199443	Intron	5	3	0	0	0	0	5	3				
CACNA1D	776	broad.mit.edu	37	3	53804530	53804530	+	Missense_Mutation	SNP	G	G	A	rs148194645		TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr3:53804530G>A	ENST00000350061.5	+	32	4506	c.3995G>A	c.(3994-3996)aGg>aAg	p.R1332K	CACNA1D_ENST00000288139.4_Missense_Mutation_p.R1352K|CACNA1D_ENST00000422281.2_Missense_Mutation_p.R1317K|CACNA1D_ENST00000540742.1_Missense_Mutation_p.R224K	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1332					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTTCTCAGCAGGGGGGAAGGC	0.448																																						uc003dgv.3		NA																	0				ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11						c.(3994-3996)AGG>AAG		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)	G	LYS/ARG,LYS/ARG,LYS/ARG	0,4406		0,0,2203	92.0	94.0	93.0		4055,3950,3995	5.7	1.0	3	dbSNP_134	93	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	CACNA1D	NM_000720.2,NM_001128839.1,NM_001128840.1	26,26,26	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	1352/2182,1317/2138,1332/2162	53804530	1,13005	2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53804530G>A	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.3995G>A	3.37:g.53804530G>A	ENSP00000288133:p.Arg1332Lys					CACNA1D_uc003dgu.3_Missense_Mutation_p.R1352K|CACNA1D_uc003dgy.3_Missense_Mutation_p.R1317K|CACNA1D_uc003dgw.3_Missense_Mutation_p.R999K|CACNA1D_uc003dgx.1_Missense_Mutation_p.R508K	p.R1332K	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	32	4158	+			1332			IV.|Helical; Name=S4 of repeat IV; (Potential).		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.3995G>A	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.532298	0.64972	0.0	1.16E-4	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000540742	D;D;D;D;D	0.98747	-5.11;-5.11;-5.11;-5.11;-5.11	5.66	5.66	0.87406	Ion transport (1);	0.106321	0.64402	D	0.000008	D	0.97682	0.9240	L	0.39467	1.215	0.80722	D	1	B;B;P;P;B	0.44816	0.033;0.004;0.479;0.844;0.038	B;B;B;P;B	0.47786	0.059;0.012;0.268;0.557;0.035	D	0.97265	0.9907	10	0.30078	T	0.28	.	19.76	0.96311	0.0:0.0:1.0:0.0	.	1317;224;1025;1332;1352	B0FYA3;F5H313;Q59GD8;Q01668;Q01668-2	.;.;.;CAC1D_HUMAN;.	K	1332;1352;1317;1025;224	ENSP00000288133:R1332K;ENSP00000288139:R1352K;ENSP00000409174:R1317K;ENSP00000418014:R1025K;ENSP00000438229:R224K	ENSP00000288139:R1352K	R	+	2	0	CACNA1D	53779570	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.666000	0.90696	0.655000	0.94253	AGG		0.448	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		25	22	0	0	0	0	25	22				
CCDC66	285331	broad.mit.edu	37	3	56657144	56657144	+	IGR	SNP	C	C	G			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr3:56657144C>G	ENST00000394672.3	+	0	3096				FAM208A_ENST00000485156.1_Intron|FAM208A_ENST00000355628.5_Missense_Mutation_p.S1584T|FAM208A_ENST00000493960.2_3'UTR|FAM208A_ENST00000431842.2_Missense_Mutation_p.S1208T	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66						post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		TCTATCCAAGCTTTCAGTATA	0.363																																						uc003did.3		NA																	0				ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(4750-4752)AGC>ACC		retinoblastoma-associated protein 140 isoform b							77.0	79.0	78.0					3																	56657144		2203	4300	6503	SO:0001628	intergenic_variant	23272							g.chr3:56657144C>G	AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748		3.37:g.56657144C>G						C3orf63_uc003dib.3_Missense_Mutation_p.S703T|C3orf63_uc003dic.3_Missense_Mutation_p.S1208T|C3orf63_uc003die.3_3'UTR	p.S1584T	NM_015224	NP_056039	Q9UK61	CC063_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147)	23	4852	-			1645					B3KWL8|Q4VC34|Q8N949	Missense_Mutation	SNP	ENST00000394672.3	37	c.4751G>C	CCDS46852.1	.	.	.	.	.	.	.	.	.	.	C	6.627	0.484104	0.12581	.	.	ENSG00000163946	ENST00000431842;ENST00000355628	T;T	0.12039	2.72;2.91	5.71	1.9	0.25705	.	0.294320	0.34088	N	0.004279	T	0.07052	0.0179	.	.	.	0.21445	N	0.999681	P;P;B	0.35272	0.493;0.493;0.1	B;B;B	0.30495	0.053;0.116;0.024	T	0.30387	-0.9980	9	0.28530	T	0.3	-0.1677	4.8998	0.13769	0.1345:0.5043:0.0:0.3612	.	1584;1208;1645	Q9UK61-4;Q9UK61-2;Q9UK61	.;.;F208A_HUMAN	T	1208;1584	ENSP00000399410:S1208T;ENSP00000347845:S1584T	ENSP00000347845:S1584T	S	-	2	0	C3orf63	56632184	0.946000	0.32159	0.975000	0.42487	0.913000	0.54294	0.161000	0.16481	0.337000	0.23665	0.591000	0.81541	AGC		0.363	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	NM_001012506		27	28	0	0	0	0	27	28				
ZNF654	55279	broad.mit.edu	37	3	88189761	88189761	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr3:88189761G>C	ENST00000309495.5	+	1	1508	c.1301G>C	c.(1300-1302)aGt>aCt	p.S434T	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	434					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		AATGGACACAGTGAAATAGAG	0.353																																						uc003dqv.2		NA																	0				ovary(1)	1						c.(1300-1302)AGT>ACT		zinc finger protein 654							80.0	78.0	79.0					3																	88189761		1877	4108	5985	SO:0001583	missense	55279				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:88189761G>C	AF543494	CCDS46874.1	3p11.1	2005-01-10			ENSG00000175105	ENSG00000175105			25612	protein-coding gene	gene with protein product							Standard	NM_018293		Approved	FLJ10997, FLJ21142	uc003dqv.3	Q8IZM8	OTTHUMG00000159097	ENST00000309495.5:c.1301G>C	3.37:g.88189761G>C	ENSP00000312141:p.Ser434Thr					CGGBP1_uc003dqu.2_Intron	p.S434T	NM_018293	NP_060763	Q8IZM8	ZN654_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)	1	1500	+		Lung NSC(201;0.0283)	434					Q9H791|Q9NV14	Missense_Mutation	SNP	ENST00000309495.5	37	c.1301G>C	CCDS46874.1	.	.	.	.	.	.	.	.	.	.	g	6.919	0.539246	0.13250	.	.	ENSG00000175105	ENST00000309495	T	0.11277	2.79	5.24	4.35	0.52113	.	.	.	.	.	T	0.11324	0.0276	L	0.47716	1.5	0.22330	N	0.999191	B	0.06786	0.001	B	0.06405	0.002	T	0.27157	-1.0082	9	0.17832	T	0.49	.	13.4083	0.60926	0.0:0.301:0.699:0.0	.	434	Q8IZM8	ZN654_HUMAN	T	434	ENSP00000312141:S434T	ENSP00000312141:S434T	S	+	2	0	ZNF654	88272451	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	1.506000	0.35747	1.144000	0.42321	0.586000	0.80456	AGT		0.353	ZNF654-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353285.2	NM_018293		36	31	0	0	0	0	36	31				
OR5H15	403274	broad.mit.edu	37	3	97888271	97888271	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr3:97888271C>A	ENST00000356526.2	+	1	728	c.728C>A	c.(727-729)gCc>gAc	p.A243D		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						ACCTGTGGAGCCCATCTCTTC	0.428																																						uc011bgu.1		NA																	0				ovary(1)|skin(1)	2						c.(727-729)GCC>GAC		olfactory receptor, family 5, subfamily H,							101.0	104.0	103.0					3																	97888271		2203	4300	6503	SO:0001583	missense	403274				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97888271C>A		CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"""GPCR / Class A : Olfactory receptors"""	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.728C>A	3.37:g.97888271C>A	ENSP00000373195:p.Ala243Asp						p.A243D	NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN			1	728	+			243			Helical; Name=6; (Potential).			Missense_Mutation	SNP	ENST00000356526.2	37	c.728C>A	CCDS33799.1	.	.	.	.	.	.	.	.	.	.	-	18.05	3.537353	0.65085	.	.	ENSG00000233412	ENST00000356526;ENST00000454529	T	0.37915	1.17	2.48	2.48	0.30137	GPCR, rhodopsin-like superfamily (1);	0.145451	0.31797	N	0.007059	T	0.58949	0.2158	M	0.88704	2.975	0.29452	N	0.858398	D	0.59767	0.986	P	0.61658	0.892	T	0.60707	-0.7210	10	0.87932	D	0	.	10.7066	0.45958	0.0:1.0:0.0:0.0	.	243	A6NDH6	O5H15_HUMAN	D	243	ENSP00000373195:A243D	ENSP00000373195:A243D	A	+	2	0	OR5H15	99370961	0.089000	0.21612	0.983000	0.44433	0.028000	0.11728	3.869000	0.56062	1.386000	0.46466	0.184000	0.17185	GCC		0.428	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359109.1			21	65	1	0	1.18e-14	2.81e-14	21	65				
TMEM108	66000	broad.mit.edu	37	3	133099858	133099858	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr3:133099858C>T	ENST00000321871.6	+	4	1513	c.1303C>T	c.(1303-1305)Ccc>Tcc	p.P435S	TMEM108_ENST00000515826.1_Missense_Mutation_p.P435S|TMEM108_ENST00000393130.3_Missense_Mutation_p.P435S|TMEM108_ENST00000508711.1_Intron	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	435						integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CCGCCTGGTCCCCGCCGGGAC	0.632																																						uc003eph.2		NA																	0				ovary(2)|skin(2)	4						c.(1303-1305)CCC>TCC		transmembrane protein 108 precursor							60.0	63.0	62.0					3																	133099858		2203	4300	6503	SO:0001583	missense	66000					integral to membrane		g.chr3:133099858C>T	AL136578	CCDS33858.1, CCDS75012.1	3q22.1	2014-04-07			ENSG00000144868	ENSG00000144868			28451	protein-coding gene	gene with protein product	"""cancer/testis antigen 124"""					11214970	Standard	XM_005247726		Approved	MGC3040, CT124	uc003epi.3	Q6UXF1	OTTHUMG00000159685	ENST00000321871.6:c.1303C>T	3.37:g.133099858C>T	ENSP00000324651:p.Pro435Ser					TMEM108_uc003epi.2_Missense_Mutation_p.P435S|TMEM108_uc003epj.1_Missense_Mutation_p.P435S|TMEM108_uc003epk.2_Intron|TMEM108_uc003epm.2_Missense_Mutation_p.P386S	p.P435S	NM_023943	NP_076432	Q6UXF1	TM108_HUMAN			4	1577	+			435			Extracellular (Potential).		D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Missense_Mutation	SNP	ENST00000321871.6	37	c.1303C>T	CCDS33858.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.194344	0.78902	.	.	ENSG00000144868	ENST00000321871;ENST00000393130;ENST00000515826	T;T;T	0.80393	-0.72;-0.72;-1.37	3.66	3.66	0.41972	.	0.000000	0.56097	D	0.000023	D	0.87748	0.6255	M	0.62723	1.935	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.89483	0.3751	10	0.72032	D	0.01	-12.8866	15.9082	0.79447	0.0:1.0:0.0:0.0	.	435;435	E9PB58;Q6UXF1	.;TM108_HUMAN	S	435	ENSP00000324651:P435S;ENSP00000376838:P435S;ENSP00000423338:P435S	ENSP00000324651:P435S	P	+	1	0	TMEM108	134582548	1.000000	0.71417	0.985000	0.45067	0.975000	0.68041	7.207000	0.77899	2.048000	0.60808	0.561000	0.74099	CCC		0.632	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356907.2	NM_023943		22	36	0	0	0	0	22	36				
KLHL24	54800	broad.mit.edu	37	3	183368452	183368452	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr3:183368452G>A	ENST00000454652.2	+	4	694	c.308G>A	c.(307-309)cGa>cAa	p.R103Q	KLHL24_ENST00000476808.1_Missense_Mutation_p.R103Q|KLHL24_ENST00000242810.6_Missense_Mutation_p.R103Q	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	103	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					cell projection (GO:0042995)|cytoplasm (GO:0005737)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			AGGGAAAGCCGAGAAATGTTG	0.398																																						uc003flv.2		NA																	0				ovary(1)	1						c.(307-309)CGA>CAA		DRE1 protein							216.0	204.0	208.0					3																	183368452		2203	4300	6503	SO:0001583	missense	54800					axon|cytoplasm|perikaryon		g.chr3:183368452G>A		CCDS3246.1	3q27.1	2013-02-22	2013-02-22		ENSG00000114796	ENSG00000114796		"""Kelch-like"", ""BTB/POZ domain containing"""	25947	protein-coding gene	gene with protein product		611295	"""kelch-like 24 (Drosophila)"""				Standard	XM_005247552		Approved	DRE1, FLJ20059	uc003flv.3	Q6TFL4	OTTHUMG00000156911	ENST00000454652.2:c.308G>A	3.37:g.183368452G>A	ENSP00000395012:p.Arg103Gln					KLHL24_uc003flw.2_Missense_Mutation_p.R103Q|KLHL24_uc003flx.2_Missense_Mutation_p.R103Q	p.R103Q	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)		3	603	+	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		103			BTB.		A5PLN8|Q9H620|Q9NXT9	Missense_Mutation	SNP	ENST00000454652.2	37	c.308G>A	CCDS3246.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.088061	0.55968	.	.	ENSG00000114796	ENST00000242810;ENST00000493074;ENST00000454495;ENST00000427201;ENST00000482138;ENST00000454652;ENST00000468001;ENST00000476808	T;T;T;T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24	5.44	5.44	0.79542	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.67951	0.2948	L	0.29908	0.895	0.80722	D	1	D;P	0.64830	0.994;0.635	P;B	0.53224	0.721;0.189	T	0.67665	-0.5612	10	0.40728	T	0.16	.	19.2708	0.94008	0.0:0.0:1.0:0.0	.	103;103	Q6TFL4-2;Q6TFL4	.;KLH24_HUMAN	Q	103	ENSP00000242810:R103Q;ENSP00000417347:R103Q;ENSP00000416836:R103Q;ENSP00000408567:R103Q;ENSP00000417275:R103Q;ENSP00000395012:R103Q;ENSP00000418922:R103Q;ENSP00000419010:R103Q	ENSP00000242810:R103Q	R	+	2	0	KLHL24	184851146	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.560000	0.86352	0.460000	0.39030	CGA		0.398	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346586.2	NM_017644		42	103	0	0	0	0	42	103				
YEATS2	55689	broad.mit.edu	37	3	183521945	183521945	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr3:183521945G>C	ENST00000305135.5	+	27	3948	c.3753G>C	c.(3751-3753)gaG>gaC	p.E1251D	AC131160.1_ENST00000401347.1_RNA|YEATS2-AS1_ENST00000425008.3_RNA	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	1251					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ACTCCATCGAGGACGTGCTGA	0.612																																						uc003fly.2		NA																	0				ovary(3)|large_intestine(1)	4						c.(3751-3753)GAG>GAC		YEATS domain containing 2							86.0	87.0	87.0					3																	183521945		2105	4231	6336	SO:0001583	missense	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183521945G>C	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.3753G>C	3.37:g.183521945G>C	ENSP00000306983:p.Glu1251Asp					uc003fma.1_3'UTR	p.E1251D	NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		27	3948	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		1251					A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	c.3753G>C	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.712457	0.48517	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.26957	1.7	5.76	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.47303	0.1438	M	0.69823	2.125	0.52501	D	0.999952	D	0.69078	0.997	D	0.72625	0.978	T	0.48479	-0.9032	10	0.72032	D	0.01	-24.5814	10.3012	0.43653	0.2056:0.0:0.7944:0.0	.	1251	Q9ULM3	YETS2_HUMAN	D	1251	ENSP00000306983:E1251D	ENSP00000306983:E1251D	E	+	3	2	YEATS2	185004639	1.000000	0.71417	0.999000	0.59377	0.063000	0.16089	1.202000	0.32271	1.444000	0.47605	-0.122000	0.15005	GAG		0.612	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		10	85	0	0	0	0	10	85				
TMEM175	84286	broad.mit.edu	37	4	949582	949582	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr4:949582C>T	ENST00000264771.4	+	10	931	c.746C>T	c.(745-747)tCg>tTg	p.S249L	TMEM175_ENST00000515740.1_Missense_Mutation_p.S133L|TMEM175_ENST00000508204.1_Missense_Mutation_p.S167L	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	249						integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GAAGTCTTCTCGTTTGACCTC	0.637																																						uc003gbq.2		NA																	0					0						c.(745-747)TCG>TTG		transmembrane protein 175							52.0	50.0	51.0					4																	949582		2203	4300	6503	SO:0001583	missense	84286					integral to membrane		g.chr4:949582C>T	BC005158	CCDS3341.1, CCDS75087.1, CCDS75088.1	4p16.3	2008-02-05			ENSG00000127419	ENSG00000127419			28709	protein-coding gene	gene with protein product						12477932	Standard	XM_005272301		Approved	MGC4618	uc003gbq.3	Q9BSA9	OTTHUMG00000118996	ENST00000264771.4:c.746C>T	4.37:g.949582C>T	ENSP00000264771:p.Ser249Leu					TMEM175_uc010ibl.1_Missense_Mutation_p.S249L|TMEM175_uc003gbp.1_Missense_Mutation_p.S167L|TMEM175_uc003gbr.2_Missense_Mutation_p.S167L|TMEM175_uc003gbu.2_Missense_Mutation_p.S167L|TMEM175_uc003gbs.2_Missense_Mutation_p.S132L|TMEM175_uc003gbt.2_Missense_Mutation_p.S132L|TMEM175_uc003gbv.2_Missense_Mutation_p.S132L|TMEM175_uc010ibm.2_Missense_Mutation_p.S65L	p.S249L	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		10	844	+			249					D3DVN4|Q8ND13	Missense_Mutation	SNP	ENST00000264771.4	37	c.746C>T	CCDS3341.1	.	.	.	.	.	.	.	.	.	.	c	9.649	1.141048	0.21205	.	.	ENSG00000127419	ENST00000264771;ENST00000515492;ENST00000359768;ENST00000509508;ENST00000515740;ENST00000508204;ENST00000510493	T;T;T	0.47177	1.45;1.43;0.85	4.69	2.87	0.33458	.	0.183172	0.46758	D	0.000273	T	0.28764	0.0713	L	0.29908	0.895	0.24453	N	0.994473	B;P;P;D	0.56287	0.271;0.669;0.669;0.975	B;B;B;B	0.34873	0.038;0.085;0.057;0.191	T	0.10382	-1.0632	10	0.30854	T	0.27	-0.8652	11.8677	0.52503	0.0:0.7391:0.2609:0.0	.	167;167;249;167	D3DVN5;D6RBE5;Q9BSA9;B3KR27	.;.;TM175_HUMAN;.	L	249;167;167;155;133;167;167	ENSP00000264771:S249L;ENSP00000427039:S133L;ENSP00000423669:S167L	ENSP00000264771:S249L	S	+	2	0	TMEM175	939582	0.385000	0.25172	0.147000	0.22382	0.010000	0.07245	1.099000	0.31013	0.326000	0.23384	0.478000	0.44815	TCG		0.637	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239193.2	NM_032326		7	20	0	0	0	0	7	20				
FGFR3	2261	broad.mit.edu	37	4	1801019	1801019	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr4:1801019G>A	ENST00000260795.2	+	2	250	c.148G>A	c.(148-150)Gtc>Atc	p.V50I	FGFR3_ENST00000340107.4_Missense_Mutation_p.V50I|FGFR3_ENST00000481110.2_Missense_Mutation_p.V50I|FGFR3_ENST00000440486.2_Missense_Mutation_p.V50I|FGFR3_ENST00000352904.1_Missense_Mutation_p.V50I|FGFR3_ENST00000412135.2_Missense_Mutation_p.V50I			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	50	Ig-like C2-type 1.				alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	GGAGCAGTTGGTCTTCGGCAG	0.677		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome																													uc003gdr.3		1		Dom	yes		4	4p16.3	2261	Mis|T	fibroblast growth factor receptor 3	yes	Hypochondroplasia|Thanatophoric dysplasia	"""L, E"""	IGH@|ETV6		bladder|MM|T-cell lymphoma		0				urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600						c.(148-150)GTC>ATC		fibroblast growth factor receptor 3 isoform 1	Palifermin(DB00039)						41.0	52.0	48.0					4																	1801019		2199	4289	6488	SO:0001583	missense	2261	Muenke_syndrome|Saethre-Chotzen_syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1801019G>A	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.148G>A	4.37:g.1801019G>A	ENSP00000260795:p.Val50Ile					FGFR3_uc003gdu.2_Missense_Mutation_p.V50I|FGFR3_uc003gds.3_Missense_Mutation_p.V50I|FGFR3_uc003gdq.3_Missense_Mutation_p.V50I|FGFR3_uc010icb.1_5'Flank|FGFR3_uc003gdt.1_5'Flank	p.V50I	NM_000142	NP_000133	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		3	404	+		Breast(71;0.212)|all_epithelial(65;0.241)	50			Ig-like C2-type 1.|Extracellular (Potential).		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	37	c.148G>A	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	g	11.11	1.542086	0.27563	.	.	ENSG00000068078	ENST00000481110;ENST00000340107;ENST00000440486;ENST00000412135;ENST00000260795;ENST00000352904	T;T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31;-1.31	3.54	1.75	0.24633	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.403926	0.24267	N	0.040035	T	0.65312	0.2679	N	0.20401	0.57	0.09310	N	0.999994	B;P;B;B	0.36010	0.004;0.532;0.003;0.071	B;B;B;B	0.40534	0.043;0.332;0.005;0.049	T	0.53697	-0.8402	10	0.23302	T	0.38	.	6.0189	0.19618	0.2594:0.0:0.7406:0.0	.	50;50;50;50	P22607-2;P22607-3;P22607;F8W9L4	.;.;FGFR3_HUMAN;.	I	50	ENSP00000420533:V50I;ENSP00000339824:V50I;ENSP00000414914:V50I;ENSP00000412903:V50I;ENSP00000260795:V50I;ENSP00000231803:V50I	ENSP00000260795:V50I	V	+	1	0	FGFR3	1770817	1.000000	0.71417	0.901000	0.35422	0.082000	0.17680	3.038000	0.49783	0.266000	0.21894	0.407000	0.27541	GTC		0.677	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	NM_000142		14	61	0	0	0	0	14	61				
GRID2	2895	broad.mit.edu	37	4	94031921	94031921	+	Silent	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr4:94031921C>T	ENST00000282020.4	+	4	810	c.552C>T	c.(550-552)ttC>ttT	p.F184F	GRID2_ENST00000510992.1_Silent_p.F89F|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	184					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		TACAGGAGTTCTTGGACAAAG	0.383																																						uc011cdt.1		NA																	0				ovary(3)|skin(2)|large_intestine(1)	6						c.(550-552)TTC>TTT		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						150.0	154.0	153.0					4																	94031921		2203	4300	6503	SO:0001819	synonymous_variant	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94031921C>T	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.552C>T	4.37:g.94031921C>T						GRID2_uc010ikx.2_Silent_p.F184F|GRID2_uc011cdu.1_Silent_p.F89F|GRID2_uc011cdv.1_RNA	p.F184F	NM_001510	NP_001501	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	4	810	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	184			Extracellular (Potential).		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Silent	SNP	ENST00000282020.4	37	c.552C>T	CCDS3637.1																																																																																				0.383	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			20	71	0	0	0	0	20	71				
DKK2	27123	broad.mit.edu	37	4	107956552	107956552	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr4:107956552C>G	ENST00000285311.3	-	1	902	c.197G>C	c.(196-198)aGt>aCt	p.S66T	DKK2_ENST00000510463.1_Intron|DKK2_ENST00000513208.1_Intron	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	66					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GCCCTTCTTACTGCCGCCGAA	0.577																																						uc003hyi.2		NA																	0				ovary(3)|lung(1)|skin(1)	5						c.(196-198)AGT>ACT		dickkopf homolog 2 precursor							60.0	63.0	62.0					4																	107956552		2203	4300	6503	SO:0001583	missense	27123				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space		g.chr4:107956552C>G	AB033208	CCDS3675.1	4q25	2013-05-15	2013-05-15		ENSG00000155011	ENSG00000155011			2892	protein-coding gene	gene with protein product		605415	"""dickkopf (Xenopus laevis) homolog 2"", ""dickkopf 2 homolog (Xenopus laevis)"""			10570958	Standard	NM_014421		Approved		uc003hyi.3	Q9UBU2	OTTHUMG00000131216	ENST00000285311.3:c.197G>C	4.37:g.107956552C>G	ENSP00000285311:p.Ser66Thr					DKK2_uc010ilw.1_Intron|DKK2_uc003hyj.1_Missense_Mutation_p.S66T	p.S66T	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)	1	902	-		Hepatocellular(203;0.217)	66					A0AVE9|B2R6S7|Q9UIU3	Missense_Mutation	SNP	ENST00000285311.3	37	c.197G>C	CCDS3675.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.726461	0.30593	.	.	ENSG00000155011	ENST00000285311	T	0.42900	0.96	5.3	5.3	0.74995	.	0.206092	0.50627	D	0.000102	T	0.33990	0.0882	N	0.19112	0.55	0.80722	D	1	P;B	0.47762	0.9;0.0	B;B	0.43867	0.434;0.001	T	0.06752	-1.0809	10	0.36615	T	0.2	-14.3108	17.3206	0.87234	0.0:1.0:0.0:0.0	.	66;66	Q9H3R7;Q9UBU2	.;DKK2_HUMAN	T	66	ENSP00000285311:S66T	ENSP00000285311:S66T	S	-	2	0	DKK2	108176001	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	2.974000	0.49272	2.764000	0.94973	0.637000	0.83480	AGT		0.577	DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253959.4			14	34	0	0	0	0	14	34				
PCDH10	57575	broad.mit.edu	37	4	134072702	134072702	+	Silent	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr4:134072702C>T	ENST00000264360.5	+	1	2233	c.1407C>T	c.(1405-1407)gaC>gaT	p.D469D	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	469	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)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CGGTCTACGACGTGTATGTGA	0.622																																						uc003iha.2		NA																	0				ovary(2)	2						c.(1405-1407)GAC>GAT		protocadherin 10 isoform 1 precursor							88.0	87.0	87.0					4																	134072702		2203	4300	6503	SO:0001819	synonymous_variant	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134072702C>T	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1407C>T	4.37:g.134072702C>T						uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.D469D	p.D469D	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2233	+			469			Extracellular (Potential).|Cadherin 5.		Q4W5F6|Q96SF0	Silent	SNP	ENST00000264360.5	37	c.1407C>T	CCDS34063.1																																																																																				0.622	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		31	63	0	0	0	0	31	63				
STOX2	56977	broad.mit.edu	37	4	184931970	184931970	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr4:184931970G>A	ENST00000308497.4	+	3	3414	c.1979G>A	c.(1978-1980)gGg>gAg	p.G660E	STOX2_ENST00000438269.1_Missense_Mutation_p.G660E	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	660					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		TCACCAAAAGGGCCGGGTGGG	0.642																																						uc003ivz.1		NA																	0					0						c.(1978-1980)GGG>GAG		storkhead box 2							10.0	11.0	11.0					4																	184931970		1847	4077	5924	SO:0001583	missense	56977				embryo development|maternal placenta development			g.chr4:184931970G>A	AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.1979G>A	4.37:g.184931970G>A	ENSP00000311257:p.Gly660Glu					STOX2_uc003iwa.1_Missense_Mutation_p.G349E	p.G660E	NM_020225	NP_064610	Q9P2F5	STOX2_HUMAN		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)	3	3414	+		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)	660					A6H8U4|Q9NPS8	Missense_Mutation	SNP	ENST00000308497.4	37	c.1979G>A	CCDS47167.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.159658	0.78226	.	.	ENSG00000173320	ENST00000308497;ENST00000438269	T;D	0.87729	-1.3;-2.29	5.21	5.21	0.72293	.	0.115583	0.64402	D	0.000014	D	0.90403	0.6996	L	0.34521	1.04	0.80722	D	1	P;D	0.89917	0.557;1.0	B;D	0.87578	0.277;0.998	D	0.90598	0.4542	10	0.52906	T	0.07	-27.0174	18.9674	0.92701	0.0:0.0:1.0:0.0	.	660;660	Q9P2F5-2;Q9P2F5	.;STOX2_HUMAN	E	660	ENSP00000311257:G660E;ENSP00000390127:G660E	ENSP00000311257:G660E	G	+	2	0	STOX2	185168964	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	9.156000	0.94705	2.720000	0.93068	0.650000	0.86243	GGG		0.642	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	NM_020225		5	13	0	0	0	0	5	13				
ADAMTS16	170690	broad.mit.edu	37	5	5237176	5237176	+	Silent	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr5:5237176G>A	ENST00000274181.7	+	14	2256	c.2118G>A	c.(2116-2118)gaG>gaA	p.E706E	ADAMTS16_ENST00000513709.1_Intron	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	706	Cys-rich.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CATGCTCGGAGGATAGCCGTA	0.388																																						uc003jdl.2		NA																	0				ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(2116-2118)GAG>GAA		ADAM metallopeptidase with thrombospondin type 1							144.0	134.0	137.0					5																	5237176		1895	4126	6021	SO:0001819	synonymous_variant	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5237176G>A	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2118G>A	5.37:g.5237176G>A						ADAMTS16_uc003jdk.1_Silent_p.E706E|ADAMTS16_uc010itk.1_Intron	p.E706E	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			14	2256	+			706			Cys-rich.		C6G490|Q8IVE2	Silent	SNP	ENST00000274181.7	37	c.2118G>A	CCDS43299.1																																																																																				0.388	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		36	60	0	0	0	0	36	60				
DNAH5	1767	broad.mit.edu	37	5	13769209	13769209	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr5:13769209C>T	ENST00000265104.4	-	58	9861	c.9757G>A	c.(9757-9759)Gaa>Aaa	p.E3253K	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3253	Stalk. {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)					TTGACCTTTTCAGCAGCCTGT	0.428									Kartagener syndrome																													uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(9757-9759)GAA>AAA		dynein, axonemal, heavy chain 5							280.0	276.0	278.0					5																	13769209		2203	4300	6503	SO:0001583	missense	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.chr5:13769209C>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.9757G>A	5.37:g.13769209C>T	ENSP00000265104:p.Glu3253Lys					DNAH5_uc003jfc.2_5'UTR	p.E3253K	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			58	9799	-	Lung NSC(4;0.00476)		3253			Stalk (By similarity).|Potential.		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.9757G>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	36	5.750605	0.96890	.	.	ENSG00000039139	ENST00000265104	T	0.74106	-0.81	5.76	5.76	0.90799	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.86661	0.5986	M	0.88181	2.935	0.80722	D	1	P	0.46220	0.874	P	0.53760	0.734	D	0.87600	0.2496	10	0.62326	D	0.03	.	20.3242	0.98691	0.0:1.0:0.0:0.0	.	3253	Q8TE73	DYH5_HUMAN	K	3253	ENSP00000265104:E3253K	ENSP00000265104:E3253K	E	-	1	0	DNAH5	13822209	1.000000	0.71417	0.775000	0.31657	0.971000	0.66376	5.927000	0.70080	2.882000	0.98803	0.655000	0.94253	GAA		0.428	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		102	260	0	0	0	0	102	260				
DNAJC21	134218	broad.mit.edu	37	5	34945007	34945007	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr5:34945007A>G	ENST00000342382.4	+	8	1246	c.1019A>G	c.(1018-1020)gAa>gGa	p.E340G	DNAJC21_ENST00000382021.2_Missense_Mutation_p.E340G|DNAJC21_ENST00000303525.7_Missense_Mutation_p.E340G			Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	340	Glu-rich.				protein folding (GO:0006457)	ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			AAGCATCGGGAAATGGTGGCC	0.408																																						uc003jjc.2		NA																	0				breast(1)|skin(1)	2						c.(1018-1020)GAA>GGA		DnaJ homology subfamily A member 5 isoform 2							141.0	142.0	142.0					5																	34945007		2203	4300	6503	SO:0001583	missense	134218				protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding	g.chr5:34945007A>G		CCDS3907.2, CCDS34144.1	5p13-p12	2012-10-05			ENSG00000168724	ENSG00000168724		"""Heat shock proteins / DNAJ (HSP40)"""	27030	protein-coding gene	gene with protein product	"""JJJ1 DnaJ domain protein homolog (S. cerevisiae)"""					15067379	Standard	XM_005248250		Approved	GS3, DNAJA5, JJJ1	uc003jjc.3	Q5F1R6	OTTHUMG00000074103	ENST00000342382.4:c.1019A>G	5.37:g.34945007A>G	ENSP00000343728:p.Glu340Gly					DNAJC21_uc003jjb.2_Missense_Mutation_p.E340G|DNAJC21_uc010iuu.1_Missense_Mutation_p.E224G|DNAJC21_uc003jjd.2_5'Flank	p.E340G	NM_001012339	NP_001012339	Q5F1R6	DJC21_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		8	1246	+	all_lung(31;7.08e-05)		340			Glu-rich.		Q3B7J9|Q6P086|Q6ZS43|Q86VC6	Missense_Mutation	SNP	ENST00000342382.4	37	c.1019A>G	CCDS34144.1	.	.	.	.	.	.	.	.	.	.	A	33	5.195634	0.94960	.	.	ENSG00000168724	ENST00000342382;ENST00000382021;ENST00000303525	T;T;T	0.48522	0.83;0.82;0.81	6.07	6.07	0.98685	Zinc finger, U1-type (1);	0.000000	0.85682	D	0.000000	T	0.68906	0.3052	M	0.70275	2.135	0.80722	D	1	D;D;D	0.89917	1.0;0.996;1.0	D;D;D	0.91635	0.982;0.933;0.999	T	0.70769	-0.4782	10	0.59425	D	0.04	-39.6108	16.6406	0.85098	1.0:0.0:0.0:0.0	.	340;340;340	Q5F1R6-3;Q5F1R6;Q5F1R6-2	.;DJC21_HUMAN;.	G	340	ENSP00000343728:E340G;ENSP00000371451:E340G;ENSP00000306289:E340G	ENSP00000306289:E340G	E	+	2	0	DNAJC21	34980764	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.336000	0.90033	2.326000	0.78906	0.533000	0.62120	GAA		0.408	DNAJC21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157337.1	NM_194283		115	137	0	0	0	0	115	137				
WDR70	55100	broad.mit.edu	37	5	37480011	37480011	+	Silent	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr5:37480011G>A	ENST00000265107.4	+	8	918	c.762G>A	c.(760-762)aaG>aaA	p.K254K	WDR70_ENST00000510699.1_3'UTR|WDR70_ENST00000504564.1_Silent_p.K254K	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	254							enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTCAGGCCAAGGTGATTGACA	0.383																																						uc003jkv.2		NA																	0		p.K254M(1)		ovary(1)|central_nervous_system(1)	2						c.(760-762)AAG>AAA		WD repeat domain 70							214.0	201.0	206.0					5																	37480011		2203	4300	6503	SO:0001819	synonymous_variant	55100							g.chr5:37480011G>A	BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"""WD repeat domain containing"""	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.762G>A	5.37:g.37480011G>A						WDR70_uc010iva.1_Silent_p.K254K	p.K254K	NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		8	820	+	all_lung(31;0.000285)		254			WD 2.		Q9H053	Silent	SNP	ENST00000265107.4	37	c.762G>A	CCDS34147.1																																																																																				0.383	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	NM_018034		19	106	0	0	0	0	19	106				
MROH2B	133558	broad.mit.edu	37	5	41054880	41054880	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr5:41054880G>T	ENST00000399564.4	-	11	1546	c.1096C>A	c.(1096-1098)Ctc>Atc	p.L366I	MROH2B_ENST00000506092.2_Intron	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	366																	TTTGTACTGAGATCACCCATG	0.363																																						uc003jmj.3		NA																	0				ovary(6)|central_nervous_system(2)	8						c.(1096-1098)CTC>ATC		HEAT repeat family member 7B2							151.0	141.0	144.0					5																	41054880		1824	4076	5900	SO:0001583	missense	133558						binding	g.chr5:41054880G>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.1096C>A	5.37:g.41054880G>T	ENSP00000382476:p.Leu366Ile					HEATR7B2_uc003jmi.3_Intron	p.L366I	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			11	1586	-			366					Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.1096C>A	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	2.191	-0.385384	0.04966	.	.	ENSG00000171495	ENST00000296803;ENST00000399564	T	0.67345	-0.26	5.87	3.78	0.43462	Armadillo-type fold (1);	0.677938	0.13626	N	0.374082	T	0.56366	0.1980	L	0.47716	1.5	0.09310	N	1	B	0.26258	0.145	B	0.27380	0.079	T	0.42865	-0.9426	10	0.21014	T	0.42	.	8.3053	0.32038	0.0928:0.1621:0.7451:0.0	.	366	Q7Z745	HTRB2_HUMAN	I	70;366	ENSP00000382476:L366I	ENSP00000296803:L70I	L	-	1	0	HEATR7B2	41090637	0.956000	0.32656	0.506000	0.27664	0.011000	0.07611	1.151000	0.31651	1.491000	0.48482	-0.150000	0.13652	CTC		0.363	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		39	74	1	0	3.09e-21	7.44e-21	39	74				
PDE8B	8622	broad.mit.edu	37	5	76714063	76714063	+	Missense_Mutation	SNP	G	G	A	rs539447103	byFrequency	TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr5:76714063G>A	ENST00000264917.5	+	18	1966	c.1921G>A	c.(1921-1923)Gat>Aat	p.D641N	PDE8B_ENST00000505283.1_Missense_Mutation_p.D106N|PDE8B_ENST00000346042.3_Missense_Mutation_p.D544N|PDE8B_ENST00000342343.4_Missense_Mutation_p.D621N|PDE8B_ENST00000333194.4_Missense_Mutation_p.D586N|PDE8B_ENST00000340978.3_Missense_Mutation_p.D594N	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	641	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	GGGAAGCCTCGATCAGTTGGA	0.577													G|||	12	0.00239617	0.0	0.0	5008	,	,		20631	0.0		0.0	False		,,,				2504	0.0123					uc003kfa.2		NA																	0					0						c.(1921-1923)GAT>AAT		phosphodiesterase 8B isoform 1							81.0	70.0	74.0					5																	76714063		2203	4300	6503	SO:0001583	missense	8622				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr5:76714063G>A	AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"""Phosphodiesterases"""	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.1921G>A	5.37:g.76714063G>A	ENSP00000264917:p.Asp641Asn					PDE8B_uc003kfb.2_Missense_Mutation_p.D621N|PDE8B_uc003kfc.2_Missense_Mutation_p.D586N|PDE8B_uc003kfd.2_Missense_Mutation_p.D594N|PDE8B_uc003kfe.2_Missense_Mutation_p.D544N	p.D641N	NM_003719	NP_003710	O95263	PDE8B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	18	1966	+		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)	641			Catalytic (By similarity).		Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Missense_Mutation	SNP	ENST00000264917.5	37	c.1921G>A	CCDS4037.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338904	0.81911	.	.	ENSG00000113231	ENST00000340978;ENST00000346042;ENST00000264917;ENST00000342343;ENST00000333194;ENST00000505283	T;T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02;-1.02	5.21	5.21	0.72293	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.132342	0.64402	D	0.000002	T	0.73140	0.3549	L	0.41961	1.31	0.80722	D	1	P;P;P;P;P	0.48016	0.904;0.668;0.668;0.668;0.716	B;B;B;B;B	0.40534	0.332;0.144;0.222;0.144;0.226	T	0.76187	-0.3051	10	0.48119	T	0.1	.	18.7613	0.91853	0.0:0.0:1.0:0.0	.	544;594;586;621;641	O95263-2;O95263-6;O95263-3;O95263-4;O95263	.;.;.;.;PDE8B_HUMAN	N	594;544;641;621;586;106	ENSP00000345446:D594N;ENSP00000330428:D544N;ENSP00000264917:D641N;ENSP00000345646:D621N;ENSP00000331336:D586N;ENSP00000423461:D106N	ENSP00000264917:D641N	D	+	1	0	PDE8B	76749819	1.000000	0.71417	0.893000	0.35052	0.952000	0.60782	9.869000	0.99810	2.432000	0.82394	0.650000	0.86243	GAT		0.577	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719		11	24	0	0	0	0	11	24				
TGFBI	7045	broad.mit.edu	37	5	135383029	135383029	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr5:135383029C>T	ENST00000442011.2	+	6	852	c.691C>T	c.(691-693)Ctc>Ttc	p.L231F	TGFBI_ENST00000305126.8_Missense_Mutation_p.L231F	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	231	FAS1 1. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGTGGTGCACCTCATCGATAA	0.547																																						uc003lbf.3		NA																	0				breast(3)|ovary(1)	4						c.(691-693)CTC>TTC		transforming growth factor, beta-induced, 68kDa							188.0	186.0	186.0					5																	135383029		2141	4234	6375	SO:0001583	missense	7045				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding	g.chr5:135383029C>T	M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"""transforming growth factor, beta-induced, 68kD"""	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.691C>T	5.37:g.135383029C>T	ENSP00000416330:p.Leu231Phe					TGFBI_uc003lbg.3_5'UTR|TGFBI_uc003lbh.3_Missense_Mutation_p.L57F|TGFBI_uc011cyb.1_Missense_Mutation_p.L57F|TGFBI_uc010jed.2_5'Flank	p.L231F	NM_000358	NP_000349	Q15582	BGH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		6	852	+			231			FAS1 1.		D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Missense_Mutation	SNP	ENST00000442011.2	37	c.691C>T	CCDS47266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.5|24.5	4.540649|4.540649	0.85917|0.85917	.|.	.|.	ENSG00000120708|ENSG00000120708	ENST00000442011;ENST00000305126|ENST00000508767	D;D|.	0.90676|.	-2.71;-2.71|.	6.0|6.0	6.0|6.0	0.97389|0.97389	FAS1 domain (5);|.	0.053077|.	0.64402|.	D|.	0.000001|.	T|T	0.51770|0.51770	0.1694|0.1694	N|N	0.19112|0.19112	0.55|0.55	0.47183|0.47183	D|D	0.999349|0.999349	D|.	0.60575|.	0.988|.	P|.	0.60886|.	0.88|.	T|T	0.43814|0.43814	-0.9368|-0.9368	10|5	0.87932|.	D|.	0|.	5.4759|5.4759	15.8064|15.8064	0.78517|0.78517	0.0:0.7633:0.2367:0.0|0.0:0.7633:0.2367:0.0	.|.	231|.	Q15582|.	BGH3_HUMAN|.	F|L	231|6	ENSP00000416330:L231F;ENSP00000306306:L231F|.	ENSP00000306306:L231F|.	L|P	+|+	1|2	0|0	TGFBI|TGFBI	135410928|135410928	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.954000|0.954000	0.61252|0.61252	3.689000|3.689000	0.54706|0.54706	2.868000|2.868000	0.98415|0.98415	0.556000|0.556000	0.70494|0.70494	CTC|CCT		0.547	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1			77	74	0	0	0	0	77	74				
TENM2	57451	broad.mit.edu	37	5	167552005	167552005	+	Missense_Mutation	SNP	C	C	T	rs376917142		TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr5:167552005C>T	ENST00000518659.1	+	11	2198	c.2159C>T	c.(2158-2160)aCg>aTg	p.T720M	TENM2_ENST00000403607.2_Missense_Mutation_p.T553M|TENM2_ENST00000545108.1_Missense_Mutation_p.T720M|TENM2_ENST00000519204.1_Missense_Mutation_p.T599M|TENM2_ENST00000520394.1_Missense_Mutation_p.T488M|CTB-178M22.1_ENST00000517408.1_RNA	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	720	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CTGCCTGACACGGGCCTCTGC	0.612													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17149	0.0		0.0	False		,,,				2504	0.0					uc010jjd.2		NA																	0				ovary(6)|central_nervous_system(4)	10						c.(2158-2160)ACG>ATG		odz, odd Oz/ten-m homolog 2		C	MET/THR	0,4222		0,0,2111	44.0	50.0	48.0		2159	5.3	0.4	5		48	1,8415		0,1,4207	no	missense	ODZ2	NM_001122679.1	81	0,1,6318	TT,TC,CC		0.0119,0.0,0.0079	possibly-damaging	720/2766	167552005	1,12637	2111	4208	6319	SO:0001583	missense	57451							g.chr5:167552005C>T	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.2159C>T	5.37:g.167552005C>T	ENSP00000429430:p.Thr720Met					ODZ2_uc003lzr.3_Missense_Mutation_p.T488M|ODZ2_uc003lzt.3_Missense_Mutation_p.T84M|ODZ2_uc010jje.2_Translation_Start_Site|uc003lzs.1_Intron	p.T720M	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	11	2159	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.2159C>T		.	.	.	.	.	.	.	.	.	.	C	19.97	3.924366	0.73213	0.0	1.19E-4	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	T;T;T;T;T	0.03358	3.96;3.96;3.96;3.96;3.96	5.31	5.31	0.75309	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.292090	0.37012	N	0.002282	T	0.13286	0.0322	M	0.90870	3.155	0.38965	D	0.958638	P;P	0.49783	0.923;0.928	B;B	0.42625	0.393;0.343	T	0.17561	-1.0365	10	0.87932	D	0	.	18.9832	0.92762	0.0:1.0:0.0:0.0	.	720;488	Q9NT68;F8VNQ3	TEN2_HUMAN;.	M	720;720;599;488;553	ENSP00000429430:T720M;ENSP00000438635:T720M;ENSP00000428964:T599M;ENSP00000427874:T488M;ENSP00000384905:T553M	ENSP00000384905:T553M	T	+	2	0	ODZ2	167484583	1.000000	0.71417	0.449000	0.26957	0.972000	0.66771	6.065000	0.71176	2.475000	0.83589	0.650000	0.86243	ACG		0.612	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		4	8	0	0	0	0	4	8				
NSD1	64324	broad.mit.edu	37	5	176673717	176673717	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr5:176673717C>T	ENST00000439151.2	+	10	4462	c.4417C>T	c.(4417-4419)Cga>Tga	p.R1473*	NSD1_ENST00000354179.4_Nonsense_Mutation_p.R1204*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.R1204*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.R1370*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1473					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GAAGCGAAAACGACAGAGGCA	0.423			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												uc003mfr.3		NA		Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				ovary(2)|kidney(1)	3	GRCh37	CM030072	NSD1	M		c.(4417-4419)CGA>TGA		nuclear receptor binding SET domain protein 1							90.0	87.0	88.0					5																	176673717		2203	4300	6503	SO:0001587	stop_gained	64324	Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176673717C>T	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.4417C>T	5.37:g.176673717C>T	ENSP00000395929:p.Arg1473*	HNSCC(47;0.14)				NSD1_uc003mft.3_Nonsense_Mutation_p.R1204*|NSD1_uc003mfs.1_Nonsense_Mutation_p.R1370*|NSD1_uc011dfx.1_Nonsense_Mutation_p.R1121*	p.R1473*	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	10	4555	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1473					Q96PD8|Q96RN7	Nonsense_Mutation	SNP	ENST00000439151.2	37	c.4417C>T	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	42	9.632965	0.99224	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	.	.	.	5.65	3.75	0.43078	.	0.000000	0.56097	D	0.000037	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.1423	0.59442	0.2849:0.715:0.0:0.0	.	.	.	.	X	1204;1473;1204;1370	.	ENSP00000343209:R1204X	R	+	1	2	NSD1	176606323	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	1.021000	0.30040	1.492000	0.48499	0.650000	0.86243	CGA		0.423	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		33	24	0	0	0	0	33	24				
RANBP9	10048	broad.mit.edu	37	6	13639954	13639954	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr6:13639954T>C	ENST00000011619.3	-	9	1424	c.1366A>G	c.(1366-1368)Aca>Gca	p.T456A	RANBP9_ENST00000539980.1_Missense_Mutation_p.T227A	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	456	CTLH. {ECO:0000255|PROSITE- ProRule:PRU00058}.				axon guidance (GO:0007411)|microtubule nucleation (GO:0007020)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			TCACTATCTGTACCATTCACC	0.388																																						uc003nbb.2		NA																	0				lung(1)|skin(1)	2						c.(1366-1368)ACA>GCA		RAN binding protein 9							82.0	76.0	78.0					6																	13639954		2203	4300	6503	SO:0001583	missense	10048				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding	g.chr6:13639954T>C	AB008515	CCDS4529.1	6p23	2010-05-25			ENSG00000010017	ENSG00000010017			13727	protein-coding gene	gene with protein product	"""Ran Binding Protein in the Microtubule organizing center"""	603854				9817760	Standard	NM_005493		Approved	RanBPM	uc003nbb.3	Q96S59	OTTHUMG00000015642	ENST00000011619.3:c.1366A>G	6.37:g.13639954T>C	ENSP00000011619:p.Thr456Ala					RANBP9_uc003nba.2_Missense_Mutation_p.T115A	p.T456A	NM_005493	NP_005484	Q96S59	RANB9_HUMAN	Epithelial(50;0.223)		9	1425	-	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	456			CTLH.		A0PJA2|B2R8E1|O94764|Q6P3T7|Q7LBR2|Q7Z7F9	Missense_Mutation	SNP	ENST00000011619.3	37	c.1366A>G	CCDS4529.1	.	.	.	.	.	.	.	.	.	.	T	18.05	3.537882	0.65085	.	.	ENSG00000010017	ENST00000011619;ENST00000539980	T	0.78816	-1.21	5.41	5.41	0.78517	CTLH, C-terminal LisH motif (2);	0.000000	0.85682	D	0.000000	T	0.79930	0.4531	L	0.52266	1.64	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.77256	-0.2655	10	0.24483	T	0.36	-17.4207	15.7403	0.77891	0.0:0.0:0.0:1.0	.	456	Q96S59	RANB9_HUMAN	A	456;227	ENSP00000011619:T456A	ENSP00000011619:T456A	T	-	1	0	RANBP9	13747933	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.997000	0.88414	2.173000	0.68751	0.528000	0.53228	ACA		0.388	RANBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042373.1			11	31	0	0	0	0	11	31				
EHMT2	10919	broad.mit.edu	37	6	31855962	31855962	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr6:31855962G>A	ENST00000375537.4	-	13	1607	c.1601C>T	c.(1600-1602)cCc>cTc	p.P534L	EHMT2_ENST00000375528.4_Missense_Mutation_p.P557L|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000395728.3_Missense_Mutation_p.P591L|EHMT2_ENST00000375530.4_Missense_Mutation_p.P500L	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	534					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CCCACAGTGGGGACAGAAGAC	0.652																																						uc003nxz.1		NA																	0				ovary(1)	1						c.(1600-1602)CCC>CTC		euchromatic histone-lysine N-methyltransferase 2							66.0	62.0	64.0					6																	31855962		1508	2709	4217	SO:0001583	missense	10919				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr6:31855962G>A	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.1601C>T	6.37:g.31855962G>A	ENSP00000364687:p.Pro534Leu					EHMT2_uc003nxx.1_5'Flank|EHMT2_uc003nxy.1_Missense_Mutation_p.P325L|EHMT2_uc011don.1_Missense_Mutation_p.P557L|EHMT2_uc003nya.1_Missense_Mutation_p.P500L	p.P534L	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN			13	1611	-			534					B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	ENST00000375537.4	37	c.1601C>T	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.462755	0.84425	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	T;T;T;T	0.79141	-1.24;-0.73;-0.69;-1.23	4.82	4.82	0.62117	.	0.000000	0.64402	D	0.000001	D	0.84437	0.5472	M	0.74467	2.265	0.80722	D	1	D;D;D;D	0.59357	0.974;0.985;0.974;0.974	P;D;P;P	0.63793	0.829;0.918;0.829;0.742	D	0.85685	0.1303	10	0.59425	D	0.04	.	16.8245	0.85927	0.0:0.0:1.0:0.0	.	557;500;534;348	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	L	591;557;500;534;348	ENSP00000379078:P591L;ENSP00000364678:P557L;ENSP00000364680:P500L;ENSP00000364687:P534L	ENSP00000364678:P557L	P	-	2	0	EHMT2	31963941	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.218000	0.95166	2.509000	0.84616	0.555000	0.69702	CCC		0.652	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		9	37	0	0	0	0	9	37				
ZBTB9	221504	broad.mit.edu	37	6	33423997	33423997	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr6:33423997G>A	ENST00000395064.2	+	2	1388	c.1120G>A	c.(1120-1122)Ggg>Agg	p.G374R		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	374	Gly-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						TGTGAAGCTAGGGGGGACACC	0.587																																						uc003oeq.2		NA																	0					0						c.(1120-1122)GGG>AGG		zinc finger and BTB domain containing 9							34.0	30.0	31.0					6																	33423997		2202	4299	6501	SO:0001583	missense	221504				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33423997G>A	AK122644	CCDS4780.1	6p21.31	2013-01-09			ENSG00000213588	ENSG00000213588		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	28323	protein-coding gene	gene with protein product						12477932	Standard	NM_152735		Approved	MGC23166, ZNF919	uc003oeq.3	Q96C00	OTTHUMG00000140180	ENST00000395064.2:c.1120G>A	6.37:g.33423997G>A	ENSP00000378503:p.Gly374Arg						p.G374R	NM_152735	NP_689948	Q96C00	ZBTB9_HUMAN			2	1388	+			374			Gly-rich.		A2AB19	Missense_Mutation	SNP	ENST00000395064.2	37	c.1120G>A	CCDS4780.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.750367	0.69533	.	.	ENSG00000213588	ENST00000395064	T	0.07021	3.23	4.99	4.99	0.66335	.	0.255913	0.23491	U	0.047608	T	0.09291	0.0229	L	0.32530	0.975	0.37257	D	0.90681	D	0.89917	1.0	D	0.69307	0.963	T	0.36866	-0.9730	10	0.13853	T	0.58	.	15.8062	0.78513	0.0:0.0:1.0:0.0	.	374	Q96C00	ZBTB9_HUMAN	R	374	ENSP00000378503:G374R	ENSP00000378503:G374R	G	+	1	0	ZBTB9	33531975	0.984000	0.35163	0.991000	0.47740	0.987000	0.75469	4.127000	0.57944	2.594000	0.87642	0.655000	0.94253	GGG		0.587	ZBTB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276533.1	NM_152735		10	19	0	0	0	0	10	19				
PACSIN1	29993	broad.mit.edu	37	6	34499414	34499414	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr6:34499414G>A	ENST00000538621.1	+	9	1320	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K	PACSIN1_ENST00000244458.2_Missense_Mutation_p.E359K|PACSIN1_ENST00000374043.2_Missense_Mutation_p.E317K	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	359					actin filament organization (GO:0007015)|establishment of protein localization to plasma membrane (GO:0090002)|membrane tubulation (GO:0097320)|neuron projection morphogenesis (GO:0048812)|positive regulation of dendrite development (GO:1900006)|protein localization to membrane (GO:0072657)|synaptic vesicle endocytosis (GO:0048488)	axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						CTACGCCACCGAGTGGTCAGA	0.647																																						uc003ojo.2		NA																	0					0						c.(1075-1077)GAG>AAG		protein kinase C and casein kinase substrate in							87.0	90.0	89.0					6																	34499414		2202	4300	6502	SO:0001583	missense	29993				endocytosis		protein kinase activity	g.chr6:34499414G>A	AB037800	CCDS4793.1	6p21.3	2008-02-05			ENSG00000124507	ENSG00000124507			8570	protein-coding gene	gene with protein product	"""syndapin I"""	606512				11179684	Standard	NM_020804		Approved	SDPI	uc003ojp.4	Q9BY11	OTTHUMG00000014547	ENST00000538621.1:c.1075G>A	6.37:g.34499414G>A	ENSP00000439639:p.Glu359Lys					PACSIN1_uc003ojp.2_Missense_Mutation_p.E359K	p.E359K	NM_020804	NP_065855	Q9BY11	PACN1_HUMAN			9	1281	+			359					Q9P2G8	Missense_Mutation	SNP	ENST00000538621.1	37	c.1075G>A	CCDS4793.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.696151	0.88830	.	.	ENSG00000124507	ENST00000244458;ENST00000374043;ENST00000436831;ENST00000538621	T;T;T	0.28454	1.61;1.61;1.61	4.83	4.83	0.62350	.	0.053065	0.85682	D	0.000000	T	0.16514	0.0397	M	0.68317	2.08	0.80722	D	1	P	0.37997	0.614	B	0.25614	0.062	T	0.06144	-1.0843	10	0.19147	T	0.46	-14.8926	17.7009	0.88294	0.0:0.0:1.0:0.0	.	359	Q9BY11	PACN1_HUMAN	K	359;317;359;359	ENSP00000244458:E359K;ENSP00000363155:E317K;ENSP00000439639:E359K	ENSP00000244458:E359K	E	+	1	0	PACSIN1	34607392	1.000000	0.71417	0.963000	0.40424	0.916000	0.54674	9.255000	0.95524	2.523000	0.85059	0.561000	0.74099	GAG		0.647	PACSIN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040236.1			34	121	0	0	0	0	34	121				
DAAM2	23500	broad.mit.edu	37	6	39859202	39859202	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr6:39859202G>A	ENST00000398904.2	+	18	2413	c.2231G>A	c.(2230-2232)cGc>cAc	p.R744H	RP11-61I13.3_ENST00000430595.1_RNA|RP11-61I13.3_ENST00000420293.1_RNA|RP11-61I13.3_ENST00000606829.1_RNA|RP11-61I13.3_ENST00000607675.1_RNA|DAAM2_ENST00000274867.4_Missense_Mutation_p.R744H|DAAM2_ENST00000538976.1_Missense_Mutation_p.R744H			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	744	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CGTGCTGACCGCTTCCTCTAT	0.577																																						uc003oow.2		NA																	0				ovary(2)|skin(1)	3						c.(2230-2232)CGC>CAC		dishevelled associated activator of							40.0	40.0	40.0					6																	39859202		2003	4178	6181	SO:0001583	missense	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39859202G>A	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.2231G>A	6.37:g.39859202G>A	ENSP00000381876:p.Arg744His					DAAM2_uc003oox.2_Missense_Mutation_p.R744H	p.R744H	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN			18	2387	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		744			FH2.		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	37	c.2231G>A	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	G	35	5.577848	0.96565	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	T;T;T	0.18960	2.18;2.18;2.18	5.41	5.41	0.78517	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.48572	0.1507	M	0.88704	2.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.987;0.991	T	0.55976	-0.8055	10	0.87932	D	0	.	18.1345	0.89614	0.0:0.0:1.0:0.0	.	744;744	G5EA45;Q86T65	.;DAAM2_HUMAN	H	744	ENSP00000274867:R744H;ENSP00000381876:R744H;ENSP00000437808:R744H	ENSP00000274867:R744H	R	+	2	0	DAAM2	39967180	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.469000	0.97679	2.816000	0.96949	0.563000	0.77884	CGC		0.577	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			4	12	0	0	0	0	4	12				
SYNE1	23345	broad.mit.edu	37	6	152527463	152527463	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr6:152527463C>G	ENST00000367255.5	-	126	23460	c.22859G>C	c.(22858-22860)aGc>aCc	p.S7620T	SYNE1_ENST00000265368.4_Missense_Mutation_p.S7620T|SYNE1_ENST00000356820.4_Missense_Mutation_p.S2144T|SYNE1_ENST00000448038.1_Missense_Mutation_p.S7549T|SYNE1_ENST00000341594.5_Missense_Mutation_p.S7232T|SYNE1_ENST00000423061.1_Missense_Mutation_p.S7549T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7620					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)		CAGGATGTAGCTGCCTTGTTG	0.478										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.(22858-22860)AGC>ACC		spectrin repeat containing, nuclear envelope 1							76.0	68.0	70.0					6																	152527463		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.chr6:152527463C>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.22859G>C	6.37:g.152527463C>G	ENSP00000356224:p.Ser7620Thr	HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Missense_Mutation_p.S2144T|SYNE1_uc003qos.3_Missense_Mutation_p.S2144T|SYNE1_uc003qot.3_Missense_Mutation_p.S7549T|SYNE1_uc003qou.3_Missense_Mutation_p.S7620T|SYNE1_uc003qor.3_Missense_Mutation_p.S520T	p.S7620T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	126	23461	-		Ovarian(120;0.0955)	7620			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.22859G>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	13.09	2.134531	0.37630	.	.	ENSG00000131018	ENST00000367255;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000367251	T;T;T;T;T;T;T;T	0.56275	0.56;1.34;0.55;0.47;0.56;0.65;2.51;1.49	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000001	T	0.58906	0.2155	L	0.34521	1.04	0.49130	D	0.999759	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.75484	0.969;0.969;0.986;0.969	T	0.60332	-0.7284	10	0.59425	D	0.04	.	20.0912	0.97820	0.0:1.0:0.0:0.0	.	7620;7620;7549;7549	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9	SYNE1_HUMAN;.;.;.	T	7620;266;7549;7620;7549;7232;2144;542	ENSP00000356224:S7620T;ENSP00000356226:S266T;ENSP00000396024:S7549T;ENSP00000265368:S7620T;ENSP00000390975:S7549T;ENSP00000341887:S7232T;ENSP00000349276:S2144T;ENSP00000356220:S542T	ENSP00000265368:S7620T	S	-	2	0	SYNE1	152569156	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.873000	0.63057	2.746000	0.94184	0.591000	0.81541	AGC		0.478	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		9	40	0	0	0	0	9	40				
PMS2	5395	broad.mit.edu	37	7	6045547	6045547	+	Silent	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr7:6045547G>A	ENST00000265849.7	-	2	244	c.139C>T	c.(139-141)Ctg>Ttg	p.L47L	PMS2_ENST00000441476.2_5'Flank|Y_RNA_ENST00000365120.1_RNA|PMS2_ENST00000406569.3_Silent_p.L47L|PMS2_ENST00000382321.4_Silent_p.L47L|PMS2_ENST00000469652.1_Intron	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	47					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CCAGCATCCAGACTGTTTTCT	0.413			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													uc003spl.2		NA	yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	7	7p22	5395	Mis|N|F	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)			E		colorectal|endometrial|ovarian|medulloblastoma|glioma			0				lung(1)|central_nervous_system(1)	2						c.(139-141)CTG>TTG	Direct_reversal_of_damage|MMR	PMS2 postmeiotic segregation increased 2 isoform							315.0	387.0	361.0					7																	6045547		1369	2333	3702	SO:0001819	synonymous_variant	5395	Lynch_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding	g.chr7:6045547G>A		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.139C>T	7.37:g.6045547G>A						PMS2_uc003spj.2_5'Flank|PMS2_uc003spk.2_5'UTR|PMS2_uc011jwl.1_Intron|PMS2_uc010ktg.2_5'UTR|PMS2_uc010kte.2_Silent_p.L47L|PMS2_uc010ktf.1_Silent_p.L47L	p.L47L	NM_000535	NP_000526	P54278	PMS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)	2	226	-		Ovarian(82;0.0694)	47					B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Silent	SNP	ENST00000265849.7	37	c.139C>T	CCDS5343.1																																																																																				0.413	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535		69	336	0	0	0	0	69	336				
ABCB5	340273	broad.mit.edu	37	7	20683197	20683197	+	Missense_Mutation	SNP	C	C	T	rs138449195	byFrequency	TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr7:20683197C>T	ENST00000404938.2	+	7	1272	c.620C>T	c.(619-621)aCc>aTc	p.T207I		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	207	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TGGAAACTCACCCTAGTGACT	0.443													C|||	5	0.000998403	0.0038	0.0	5008	,	,		21134	0.0		0.0	False		,,,				2504	0.0					uc010kuh.2		NA																	0				skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						c.(619-621)ACC>ATC		ATP-binding cassette, sub-family B, member 5		C	ILE/THR	7,3129		0,7,1561	161.0	138.0	145.0		620	3.7	0.9	7	dbSNP_134	145	0,7164		0,0,3582	no	missense	ABCB5	NM_001163941.1	89	0,7,5143	TT,TC,CC		0.0,0.2232,0.068	probably-damaging	207/1258	20683197	7,10293	1568	3582	5150	SO:0001583	missense	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20683197C>T	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.620C>T	7.37:g.20683197C>T	ENSP00000384881:p.Thr207Ile						p.T207I	NM_001163941	NP_001157413	Q2M3G0	ABCB5_HUMAN			7	857	+			393			Helical; (Potential).|ABC transmembrane type-1.		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	c.620C>T	CCDS55090.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	15.41	2.826227	0.50739	0.002232	0.0	ENSG00000004846	ENST00000404938	D	0.92299	-3.01	3.72	3.72	0.42706	.	.	.	.	.	D	0.95778	0.8626	M	0.84948	2.725	0.80722	D	1	D	0.69078	0.997	D	0.68483	0.958	D	0.96131	0.9092	9	0.87932	D	0	.	13.8075	0.63243	0.0:1.0:0.0:0.0	.	207	A7BKA4	.	I	207	ENSP00000384881:T207I	ENSP00000384881:T207I	T	+	2	0	ABCB5	20649722	0.999000	0.42202	0.870000	0.34147	0.048000	0.14542	7.066000	0.76734	2.375000	0.81037	0.467000	0.42956	ACC		0.443	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		32	44	0	0	0	0	32	44				
CDCA7L	55536	broad.mit.edu	37	7	21940799	21940799	+	3'UTR	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr7:21940799C>T	ENST00000406877.3	-	0	2785				DNAH11_ENST00000409508.3_Missense_Mutation_p.T4493I|CDCA7L_ENST00000465490.1_5'Flank|CDCA7L_ENST00000356195.5_3'UTR|DNAH11_ENST00000328843.6_Missense_Mutation_p.T4500I	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like						positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						TACATCTGGACCTTCAGGCTG	0.512																																						uc003svc.2		NA																	0				ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(13498-13500)ACC>ATC		dynein, axonemal, heavy chain 11							77.0	79.0	78.0					7																	21940799		1892	4132	6024	SO:0001624	3_prime_UTR_variant	8701	Kartagener_syndrome			microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21940799C>T		CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429	ENST00000406877.3:c.*1141G>A	7.37:g.21940799C>T						CDCA7L_uc003sve.3_3'UTR|CDCA7L_uc010kuk.2_3'UTR|CDCA7L_uc010kul.2_3'UTR|CDCA7L_uc003svf.3_3'UTR	p.T4500I	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			83	13530	+			4500					A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Missense_Mutation	SNP	ENST00000406877.3	37	c.13499C>T	CCDS5374.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.695728	0.88830	.	.	ENSG00000105877	ENST00000328843	T	0.09723	2.95	5.97	5.97	0.96955	Dynein heavy chain (1);	0.135477	0.64402	D	0.000002	T	0.35278	0.0926	.	.	.	0.80722	D	1	D	0.71674	0.998	D	0.64687	0.928	T	0.01305	-1.1390	9	0.66056	D	0.02	.	20.428	0.99075	0.0:1.0:0.0:0.0	.	4500	Q96DT5	DYH11_HUMAN	I	4500	ENSP00000330671:T4500I	ENSP00000330671:T4500I	T	+	2	0	DNAH11	21907324	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.401000	0.44513	2.837000	0.97791	0.655000	0.94253	ACC		0.512	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250218.4	NM_018719		21	41	0	0	0	0	21	41				
OGDH	4967	broad.mit.edu	37	7	44739836	44739836	+	Silent	SNP	C	C	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr7:44739836C>A	ENST00000222673.5	+	19	2569	c.2527C>A	c.(2527-2529)Cga>Aga	p.R843R	OGDH_ENST00000447398.1_Silent_p.R854R|OGDH_ENST00000543843.1_Silent_p.R794R|OGDH_ENST00000439616.2_Silent_p.R693R|OGDH_ENST00000444676.1_Silent_p.R858R|OGDH_ENST00000449767.1_Silent_p.R839R	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	843					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	CCACGTGCTACGACGCCAGAT	0.572																																						uc003tln.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(2527-2529)CGA>AGA		oxoglutarate dehydrogenase isoform 1 precursor	NADH(DB00157)						130.0	99.0	110.0					7																	44739836		2203	4300	6503	SO:0001819	synonymous_variant	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44739836C>A	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.2527C>A	7.37:g.44739836C>A						OGDH_uc011kbx.1_Silent_p.R839R|OGDH_uc011kby.1_Silent_p.R693R|OGDH_uc003tlp.2_Silent_p.R854R|OGDH_uc011kbz.1_Silent_p.R638R	p.R843R	NM_002541	NP_002532	Q02218	ODO1_HUMAN			19	2636	+			843					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Silent	SNP	ENST00000222673.5	37	c.2527C>A	CCDS34627.1																																																																																				0.572	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			20	85	1	0	4.35e-09	1.01e-08	20	85				
ZNF107	51427	broad.mit.edu	37	7	64166756	64166756	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr7:64166756C>T	ENST00000395391.1	+	4	1449	c.74C>T	c.(73-75)tCt>tTt	p.S25F	ZNF107_ENST00000423627.1_Missense_Mutation_p.S25F|ZNF107_ENST00000344930.3_Missense_Mutation_p.S25F			Q9UII5	ZN107_HUMAN	zinc finger protein 107	25					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				ATAAAAGATTCTTTCCAGAAA	0.358																																						uc003ttd.2		NA																	0				ovary(1)	1						c.(73-75)TCT>TTT		zinc finger protein 107							59.0	60.0	60.0					7																	64166756		2203	4300	6503	SO:0001583	missense	51427				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64166756C>T	AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"""Zinc fingers, C2H2-type"""	12887	protein-coding gene	gene with protein product		603989	"""zinc finger protein 588"", ""zinc finger protein 107 (Y8)"""	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.74C>T	7.37:g.64166756C>T	ENSP00000378789:p.Ser25Phe					ZNF107_uc003tte.2_Missense_Mutation_p.S25F	p.S25F	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN			7	860	+		Lung NSC(55;0.00948)|all_lung(88;0.0249)	25						Missense_Mutation	SNP	ENST00000395391.1	37	c.74C>T	CCDS5527.1	.	.	.	.	.	.	.	.	.	.	.	13.74	2.327160	0.41197	.	.	ENSG00000196247	ENST00000541526;ENST00000360117;ENST00000344930;ENST00000423627;ENST00000395391	T;T;T;T	0.10477	4.51;2.87;2.87;2.87	0.916	0.916	0.19373	.	.	.	.	.	T	0.28366	0.0701	M	0.91354	3.2	0.23076	N	0.99833	D	0.55172	0.97	P	0.55112	0.769	T	0.09250	-1.0683	9	0.36615	T	0.2	.	7.1683	0.25704	0.0:1.0:0.0:0.0	.	25	Q9UII5	ZN107_HUMAN	F	25	ENSP00000353234:S25F;ENSP00000343443:S25F;ENSP00000400037:S25F;ENSP00000378789:S25F	ENSP00000343443:S25F	S	+	2	0	ZNF107	63804191	0.000000	0.05858	0.173000	0.22940	0.450000	0.32258	0.013000	0.13310	0.300000	0.22699	0.305000	0.20034	TCT		0.358	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	NM_016220		33	33	0	0	0	0	33	33				
ANKIB1	54467	broad.mit.edu	37	7	92015905	92015905	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr7:92015905G>A	ENST00000265742.3	+	12	2076	c.1700G>A	c.(1699-1701)cGc>cAc	p.R567H		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	567							zinc ion binding (GO:0008270)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGATGTACTCGCTATGAAGTC	0.423																																						uc003ulw.2		NA																	0				lung(1)	1						c.(1699-1701)CGC>CAC		ankyrin repeat and IBR domain containing 1							110.0	98.0	102.0					7																	92015905		1888	4124	6012	SO:0001583	missense	54467						protein binding|zinc ion binding	g.chr7:92015905G>A	AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"""Ankyrin repeat domain containing"""	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.1700G>A	7.37:g.92015905G>A	ENSP00000265742:p.Arg567His					ANKIB1_uc010lew.1_5'UTR	p.R567H	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		12	2076	+	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		567					Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Missense_Mutation	SNP	ENST00000265742.3	37	c.1700G>A	CCDS47639.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.401975	0.62288	.	.	ENSG00000001629	ENST00000265742	T	0.14640	2.49	5.55	4.63	0.57726	Zinc finger, RING-type (1);	0.050494	0.85682	D	0.000000	T	0.39809	0.1092	M	0.84156	2.68	0.58432	D	0.999998	D	0.89917	1.0	D	0.66497	0.944	T	0.35992	-0.9766	10	0.87932	D	0	.	16.3653	0.83319	0.0:0.0:0.868:0.132	.	567	Q9P2G1	AKIB1_HUMAN	H	567	ENSP00000265742:R567H	ENSP00000265742:R567H	R	+	2	0	ANKIB1	91853841	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.909000	0.87444	2.768000	0.95171	0.655000	0.94253	CGC		0.423	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1			17	14	0	0	0	0	17	14				
SLC26A5	375611	broad.mit.edu	37	7	103018069	103018069	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr7:103018069C>A	ENST00000306312.3	-	18	2224	c.1963G>T	c.(1963-1965)Gtt>Ttt	p.V655F	SLC26A5_ENST00000393729.1_Missense_Mutation_p.V618F|SLC26A5_ENST00000354356.4_Missense_Mutation_p.V88F|SLC26A5_ENST00000432958.2_Missense_Mutation_p.V623F|SLC26A5_ENST00000339444.6_Missense_Mutation_p.V655F|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000393727.1_Missense_Mutation_p.V657F|SLC26A5_ENST00000393723.1_Missense_Mutation_p.V625F|SLC26A5_ENST00000393730.1_Missense_Mutation_p.V623F	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	655	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						TTCACTCCAACAGAATCAATA	0.438																																						uc003vbz.2		NA																	0				ovary(1)	1						c.(1963-1965)GTT>TTT		prestin isoform a							74.0	73.0	74.0					7																	103018069		2203	4300	6503	SO:0001583	missense	375611				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	g.chr7:103018069C>A	AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"""Solute carriers"""	9359	protein-coding gene	gene with protein product	"""deafness, neurosensory, autosomal recessive, 61"""	604943	"""prestin (motor protein)"""	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.1963G>T	7.37:g.103018069C>A	ENSP00000304783:p.Val655Phe					SLC26A5_uc003vbt.1_Missense_Mutation_p.V655F|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Missense_Mutation_p.V623F|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_RNA	p.V655F	NM_198999	NP_945350	P58743	S26A5_HUMAN			18	2199	-			655			Cytoplasmic (Potential).|STAS.		Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Missense_Mutation	SNP	ENST00000306312.3	37	c.1963G>T	CCDS5733.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.940953	0.92526	.	.	ENSG00000170615	ENST00000339444;ENST00000306312;ENST00000393730;ENST00000432958;ENST00000354356;ENST00000393729;ENST00000393727;ENST00000393723	D;D;D;D;D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38;-2.38;-2.38;-2.38;-2.38	5.42	5.42	0.78866	Sulphate transporter/antisigma-factor antagonist STAS (4);	0.110816	0.64402	D	0.000010	D	0.94716	0.8295	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.94859	0.8020	10	0.87932	D	0	.	19.6596	0.95859	0.0:1.0:0.0:0.0	.	655;623;655	P58743;Q496J2;P58743-2	S26A5_HUMAN;.;.	F	655;655;623;623;88;618;657;625	ENSP00000342396:V655F;ENSP00000304783:V655F;ENSP00000377331:V623F;ENSP00000389733:V623F;ENSP00000346325:V88F;ENSP00000377330:V618F;ENSP00000377328:V657F;ENSP00000377324:V625F	ENSP00000304783:V655F	V	-	1	0	SLC26A5	102805305	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	6.954000	0.76001	2.708000	0.92522	0.650000	0.86243	GTT		0.438	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1	NM_198999		13	58	1	0	4.38e-07	1.01e-06	13	58				
ZC3HAV1	56829	broad.mit.edu	37	7	138738294	138738294	+	Silent	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr7:138738294G>A	ENST00000242351.5	-	12	2668	c.2352C>T	c.(2350-2352)ctC>ctT	p.L784L	ZC3HAV1_ENST00000464606.1_Silent_p.L906L	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	784	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CATAAAATAGGAGTTTTCCTT	0.383																																						uc003vun.2		NA																	0				ovary(1)	1						c.(2350-2352)CTC>CTT		zinc finger antiviral protein isoform 1							142.0	142.0	142.0					7																	138738294		2203	4300	6503	SO:0001819	synonymous_variant	56829				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding	g.chr7:138738294G>A	BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	23721	protein-coding gene	gene with protein product	"""zinc finger antiviral protein"", "" CCCH-type zinc finger antiviral protein"""	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.2352C>T	7.37:g.138738294G>A							p.L784L	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN			12	2740	-			784			PARP catalytic.		A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Silent	SNP	ENST00000242351.5	37	c.2352C>T	CCDS5851.1																																																																																				0.383	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	NM_020119		18	39	0	0	0	0	18	39				
PRKAG2	51422	broad.mit.edu	37	7	151372597	151372597	+	Missense_Mutation	SNP	G	G	T	rs41317142		TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr7:151372597G>T	ENST00000287878.4	-	4	1097	c.593C>A	c.(592-594)cCg>cAg	p.P198Q	PRKAG2_ENST00000392801.2_Missense_Mutation_p.P154Q|PRKAG2_ENST00000433631.2_Missense_Mutation_p.P74Q|PRKAG2_ENST00000461529.1_5'Flank|PRKAG2_ENST00000492843.1_Missense_Mutation_p.P74Q	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	198					ATP biosynthetic process (GO:0006754)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|glycogen metabolic process (GO:0005977)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase activity (GO:0045860)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid metabolic process (GO:0019217)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose import (GO:0046324)|regulation of glycolytic process (GO:0006110)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|phosphorylase kinase regulator activity (GO:0008607)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	Acetylsalicylic acid(DB00945)	CCCTGTGTCCGGGGGGGAAGA	0.582																																						uc003wkk.2		NA																	0				breast(1)|kidney(1)	2						c.(592-594)CCG>CAG		AMP-activated protein kinase gamma2 subunit							93.0	85.0	88.0					7																	151372597		2203	4300	6503	SO:0001583	missense	51422				ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding	g.chr7:151372597G>T	AF087875	CCDS5928.1, CCDS43683.1, CCDS47752.1	7q35-q36	2014-09-17			ENSG00000106617	ENSG00000106617			9386	protein-coding gene	gene with protein product	"""AMPK gamma2"""	602743				8557660, 8621499	Standard	NM_024429		Approved	AAKG, AAKG2, H91620p, WPWS, CMH6	uc003wkk.3	Q9UGJ0	OTTHUMG00000157324	ENST00000287878.4:c.593C>A	7.37:g.151372597G>T	ENSP00000287878:p.Pro198Gln					PRKAG2_uc011kvl.1_Missense_Mutation_p.P74Q|PRKAG2_uc003wkj.2_Missense_Mutation_p.P154Q|PRKAG2_uc010lqe.1_RNA|PRKAG2_uc003wkm.1_Missense_Mutation_p.P198Q	p.P198Q	NM_016203	NP_057287	Q9UGJ0	AAKG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	4	1204	-	all_neural(206;0.187)	all_hematologic(28;0.0605)	198					Q53Y07|Q6NUI0|Q75MP4|Q9NUZ9|Q9UDN8|Q9ULX8	Missense_Mutation	SNP	ENST00000287878.4	37	c.593C>A	CCDS5928.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.064285	0.55432	.	.	ENSG00000106617	ENST00000287878;ENST00000492843;ENST00000433631;ENST00000392801	D;D;D;D	0.88586	-2.0;-2.4;-2.4;-2.39	5.31	5.31	0.75309	.	0.129237	0.52532	D	0.000069	D	0.91482	0.7311	L	0.32530	0.975	0.50632	D	0.999887	D;D;D	0.89917	0.992;1.0;1.0	P;D;D	0.91635	0.862;0.999;0.98	D	0.91356	0.5108	10	0.44086	T	0.13	.	18.0219	0.89257	0.0:0.0:1.0:0.0	.	74;198;198	B7Z6X8;Q8NCK6;Q9UGJ0	.;.;AAKG2_HUMAN	Q	198;74;74;154	ENSP00000287878:P198Q;ENSP00000419577:P74Q;ENSP00000406544:P74Q;ENSP00000376549:P154Q	ENSP00000287878:P198Q	P	-	2	0	PRKAG2	151003530	1.000000	0.71417	0.465000	0.27155	0.014000	0.08584	5.003000	0.63959	2.489000	0.83994	0.456000	0.33151	CCG		0.582	PRKAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348440.2	NM_016203		4	73	1	0	0.000602214	0.00130072	4	73				
ZNF596	169270	broad.mit.edu	37	8	195353	195353	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr8:195353G>A	ENST00000398612.1	+	6	889	c.506G>A	c.(505-507)aGt>aAt	p.S169N	ZNF596_ENST00000308811.4_Missense_Mutation_p.S169N|ZNF596_ENST00000320552.2_Missense_Mutation_p.S99N	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	Q8TC21	ZN596_HUMAN	zinc finger protein 596	169					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		TCATATGGAAGTCATCTATTT	0.373																																						uc003wot.2		NA																	0					0						c.(505-507)AGT>AAT		zinc finger protein 596							109.0	106.0	107.0					8																	195353		2203	4300	6503	SO:0001583	missense	169270				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:195353G>A	BC026190	CCDS5951.2	8p23.3	2013-01-08			ENSG00000172748	ENSG00000172748		"""Zinc fingers, C2H2-type"", ""-"""	27268	protein-coding gene	gene with protein product						12477932	Standard	NM_001287256		Approved		uc003wot.3	Q8TC21	OTTHUMG00000086931	ENST00000398612.1:c.506G>A	8.37:g.195353G>A	ENSP00000381613:p.Ser169Asn					ZNF596_uc003wou.2_Missense_Mutation_p.S68N|ZNF596_uc003wov.2_Missense_Mutation_p.S169N|ZNF596_uc003wow.2_Missense_Mutation_p.S169N	p.S169N	NM_173539	NP_775810	Q8TC21	ZN596_HUMAN		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)	6	794	+		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)	169					B2R8P4|O95015|Q8N9X0	Missense_Mutation	SNP	ENST00000398612.1	37	c.506G>A	CCDS5951.2	.	.	.	.	.	.	.	.	.	.	.	4.852	0.158380	0.09236	.	.	ENSG00000172748	ENST00000308811;ENST00000320552;ENST00000398612	T;T;T	0.28069	2.45;1.63;2.45	2.33	1.45	0.22620	.	.	.	.	.	T	0.18923	0.0454	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.22695	-1.0209	9	0.87932	D	0	.	7.219	0.25975	0.1449:0.0:0.8551:0.0	.	169	Q8TC21	ZN596_HUMAN	N	169;99;169	ENSP00000310033:S169N;ENSP00000318719:S99N;ENSP00000381613:S169N	ENSP00000310033:S169N	S	+	2	0	ZNF596	185353	0.757000	0.28394	0.017000	0.16124	0.019000	0.09904	2.925000	0.48884	0.564000	0.29238	0.313000	0.20887	AGT		0.373	ZNF596-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195858.4	NM_173539		18	29	0	0	0	0	18	29				
DLC1	10395	broad.mit.edu	37	8	13356766	13356766	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr8:13356766G>A	ENST00000276297.4	-	2	1224	c.815C>T	c.(814-816)aCa>aTa	p.T272I	DLC1_ENST00000511869.1_Missense_Mutation_p.T272I|DLC1_ENST00000316609.5_Missense_Mutation_p.T272I	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	272					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						TCCAAAATCTGTTTTTAATAA	0.428																																						uc003wwm.2		NA																	0				ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						c.(814-816)ACA>ATA		deleted in liver cancer 1 isoform 1							151.0	155.0	153.0					8																	13356766		2203	4300	6503	SO:0001583	missense	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.chr8:13356766G>A	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.815C>T	8.37:g.13356766G>A	ENSP00000276297:p.Thr272Ile					DLC1_uc003wwn.2_Missense_Mutation_p.T272I|DLC1_uc011kxy.1_Missense_Mutation_p.T272I	p.T272I	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN			2	1259	-			272					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.815C>T	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	G	8.106	0.777628	0.16120	.	.	ENSG00000164741	ENST00000276297;ENST00000316609;ENST00000511869	T;T;T	0.12255	3.63;2.7;2.72	4.98	3.06	0.35304	.	0.413325	0.17821	N	0.160880	T	0.07728	0.0194	N	0.24115	0.695	0.19945	N	0.999948	B;B;B	0.22983	0.02;0.078;0.02	B;B;B	0.21708	0.013;0.036;0.004	T	0.21861	-1.0233	10	0.38643	T	0.18	.	3.0584	0.06191	0.1707:0.1409:0.5436:0.1448	.	272;272;272	E9PF76;Q96QB1-3;Q96QB1	.;.;RHG07_HUMAN	I	272	ENSP00000276297:T272I;ENSP00000321034:T272I;ENSP00000425878:T272I	ENSP00000276297:T272I	T	-	2	0	DLC1	13401137	0.996000	0.38824	1.000000	0.80357	0.395000	0.30598	1.243000	0.32767	1.455000	0.47813	0.655000	0.94253	ACA		0.428	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		15	153	0	0	0	0	15	153				
ARFGEF1	10565	broad.mit.edu	37	8	68130079	68130079	+	Silent	SNP	T	T	C	rs145845893		TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr8:68130079T>C	ENST00000262215.3	-	32	4940	c.4551A>G	c.(4549-4551)ctA>ctG	p.L1517L	ARFGEF1_ENST00000518230.1_Silent_p.L355L|ARFGEF1_ENST00000520381.1_Silent_p.L971L	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1517					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CCCAGATTTCTAGGGTAAATT	0.343																																						uc003xxo.1		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8						c.(4549-4551)CTA>CTG		brefeldin A-inhibited guanine		T		2,4404	4.2+/-10.8	0,2,2201	95.0	95.0	95.0		4551	1.6	1.0	8	dbSNP_134	95	0,8600		0,0,4300	no	coding-synonymous	ARFGEF1	NM_006421.4		0,2,6501	CC,CT,TT		0.0,0.0454,0.0154		1517/1850	68130079	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68130079T>C	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.4551A>G	8.37:g.68130079T>C						ARFGEF1_uc003xxl.1_Silent_p.L971L|ARFGEF1_uc003xxn.1_Silent_p.L500L	p.L1517L	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		32	4941	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1517					Q9NV46|Q9UFV2|Q9UNL0	Silent	SNP	ENST00000262215.3	37	c.4551A>G	CCDS6199.1																																																																																				0.343	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		26	33	0	0	0	0	26	33				
ZNF517	340385	broad.mit.edu	37	8	146033063	146033063	+	Silent	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr8:146033063C>T	ENST00000531720.1	+	4	807	c.762C>T	c.(760-762)gtC>gtT	p.V254V	ZNF517_ENST00000525105.1_Intron|ZNF517_ENST00000526178.1_Intron|ZNF517_ENST00000359971.3_Silent_p.V254V			Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	254					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			ACCACCGCGTCCACACCCGCG	0.692																																						uc003zed.1		NA																	0					0						c.(760-762)GTC>GTT		zinc finger protein 517							26.0	26.0	26.0					8																	146033063		2200	4297	6497	SO:0001819	synonymous_variant	340385				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146033063C>T	AK096527	CCDS6434.1	8q24.3	2013-01-08				ENSG00000197363		"""Zinc fingers, C2H2-type"", ""-"""	27984	protein-coding gene	gene with protein product							Standard	NM_213605		Approved		uc003zed.1	Q6ZMY9		ENST00000531720.1:c.762C>T	8.37:g.146033063C>T						ZNF517_uc010mgd.1_Silent_p.V160V|ZNF517_uc003zee.1_RNA|ZNF517_uc011llm.1_Silent_p.V160V|ZNF517_uc003zef.1_Intron	p.V254V	NM_213605	NP_998770	Q6ZMY9	ZN517_HUMAN	Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)		5	869	+	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		254			C2H2-type 3.			Silent	SNP	ENST00000531720.1	37	c.762C>T	CCDS6434.1	.	.	.	.	.	.	.	.	.	.	C	7.942	0.742897	0.15642	.	.	ENSG00000197363	ENST00000529429	.	.	.	2.7	1.77	0.24775	.	.	.	.	.	T	0.45458	0.1343	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27297	-1.0078	4	.	.	.	.	3.1131	0.06365	0.0:0.4989:0.2451:0.2561	.	.	.	.	F	221	.	.	S	+	2	0	ZNF517	146003867	0.000000	0.05858	0.039000	0.18376	0.788000	0.44548	-1.574000	0.02133	0.424000	0.26061	0.462000	0.41574	TCC		0.692	ZNF517-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382642.1	XM_291261		10	16	0	0	0	0	10	16				
ZNF16	7564	broad.mit.edu	37	8	146157090	146157090	+	Silent	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr8:146157090G>A	ENST00000276816.4	-	4	1269	c.1083C>T	c.(1081-1083)agC>agT	p.S361S	ZNF16_ENST00000394909.2_Silent_p.S361S	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	361	Required for nuclear localization.				cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TGAGGTTTGAGCTTCGCCTGA	0.522																																						uc003zet.2		NA																	0				ovary(5)	5						c.(1081-1083)AGC>AGT		zinc finger protein 16							98.0	100.0	99.0					8																	146157090		2203	4300	6503	SO:0001819	synonymous_variant	7564				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146157090G>A	X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"""Zinc fingers, C2H2-type"""	12947	protein-coding gene	gene with protein product		601262	"""zinc finger protein 16 (KOX 9)"""				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.1083C>T	8.37:g.146157090G>A						ZNF16_uc003zeu.2_Silent_p.S361S	p.S361S	NM_001029976	NP_001025147	P17020	ZNF16_HUMAN	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)	4	1270	-	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	361			C2H2-type 6.		B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Silent	SNP	ENST00000276816.4	37	c.1083C>T	CCDS6437.1																																																																																				0.522	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382978.1	NM_006958		25	47	0	0	0	0	25	47				
CDKN2A	1029	broad.mit.edu	37	9	21971186	21971186	+	Nonsense_Mutation	SNP	G	G	A	rs121913387		TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr9:21971186G>A	ENST00000304494.5	-	2	442	c.172C>T	c.(172-174)Cga>Tga	p.R58*	CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	58			R -> Q (in dbSNP:rs36204273).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCCGCCACTCGGGCGCTGCCC	0.677		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1459	Whole gene deletion(1316)|Substitution - Nonsense(78)|Unknown(45)|Deletion - Frameshift(10)|Deletion - In frame(4)|Substitution - Missense(3)|Insertion - Frameshift(1)|Substitution - coding silent(1)|Complex - compound substitution(1)	p.0?(1112)|p.R58*(68)|p.?(14)|p.M53_R58del(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*89(1)|p.R58R(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.R58fs*61(1)|p.R58fs*62(1)|p.G55fs*86(1)|p.R58Q(1)|p.P113L(1)|p.A57fs*85(1)	haematopoietic_and_lymphoid_tissue(284)|skin(201)|central_nervous_system(167)|lung(154)|urinary_tract(94)|upper_aerodigestive_tract(78)|bone(74)|oesophagus(65)|soft_tissue(58)|pleura(51)|ovary(38)|pancreas(37)|kidney(32)|breast(32)|stomach(14)|thyroid(13)|NS(12)|biliary_tract(12)|autonomic_ganglia(7)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(4)|thymus(4)|endometrium(3)|vulva(2)|prostate(2)|cervix(1)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	GRCh37	CM940227	CDKN2A	M	rs121913387	c.(172-174)CGA>TGA		cyclin-dependent kinase inhibitor 2A isoform 1							7.0	9.0	8.0					9																	21971186		2034	4092	6126	SO:0001587	stop_gained	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971186G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.172C>T	9.37:g.21971186G>A	ENSP00000307101:p.Arg58*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.P113L	p.R58*	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	384	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	58			ANK 2.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.172C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.1|28.1	4.893482|4.893482	0.91889|0.91889	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	T;T|.	0.75367|.	-0.93;-0.89|.	5.79|5.79	2.71|2.71	0.32032|0.32032	.|.	0.409080|.	0.18162|.	N|.	0.149742|.	T|.	0.29288|.	0.0729|.	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	P|.	0.44006|.	0.824|.	B|.	0.33121|.	0.158|.	T|.	0.21381|.	-1.0247|.	10|.	0.72032|0.13470	D|T	0.01|0.59	-3.0019|-3.0019	9.6681|9.6681	0.39996|0.39996	0.0:0.1288:0.474:0.3972|0.0:0.1288:0.474:0.3972	.|.	113|.	Q8N726|.	CD2A2_HUMAN|.	L|X	113;72|58	ENSP00000355153:P113L;ENSP00000432664:P72L|.	ENSP00000355153:P113L|ENSP00000307101:R58X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961186|21961186	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.277000|0.277000	0.26821|0.26821	0.096000|0.096000	0.15147|0.15147	0.738000|0.738000	0.32606|0.32606	0.555000|0.555000	0.69702|0.69702	CCG|CGA		0.677	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		5	5	0	0	0	0	5	5				
MAMDC2	256691	broad.mit.edu	37	9	72723128	72723128	+	Splice_Site	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr9:72723128C>T	ENST00000377182.4	+	3	767	c.150C>T	c.(148-150)ggC>ggT	p.G50G	MAMDC2-AS1_ENST00000414515.3_RNA|MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	50	MAM 1. {ECO:0000255|PROSITE- ProRule:PRU00128}.				peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	endoplasmic reticulum (GO:0005783)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	glycosaminoglycan binding (GO:0005539)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						TCTTTCCAGGCCATTACATTT	0.448																																						uc004ahm.2		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(148-150)GGC>GGT		MAM domain containing 2 precursor							115.0	114.0	115.0					9																	72723128		2203	4300	6503	SO:0001630	splice_region_variant	256691					endoplasmic reticulum|membrane		g.chr9:72723128C>T	BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072			23673	protein-coding gene	gene with protein product		612879					Standard	NM_153267		Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.149-1C>T	9.37:g.72723128C>T						MAMDC2_uc004ahn.2_RNA	p.G50G	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN			3	767	+			50			MAM 1.		Q5VW47|Q8WX43|Q96BM4	Silent	SNP	ENST00000377182.4	37	c.150C>T	CCDS6631.1																																																																																				0.448	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052600.1	NM_153267	Silent	8	51	0	0	0	0	8	51				
SPATA31D1	389763	broad.mit.edu	37	9	84607724	84607724	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr9:84607724T>C	ENST00000344803.2	+	4	2386	c.2339T>C	c.(2338-2340)gTc>gCc	p.V780A		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	780					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CAGGAGACTGTCCCAAAAGAT	0.473																																						uc004amn.2		NA																	0					0						c.(2338-2340)GTC>GCC		hypothetical protein LOC389763							108.0	99.0	101.0					9																	84607724		1907	4123	6030	SO:0001583	missense	389763					integral to membrane		g.chr9:84607724T>C		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2339T>C	9.37:g.84607724T>C	ENSP00000341988:p.Val780Ala						p.V780A	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			4	2386	+			780						Missense_Mutation	SNP	ENST00000344803.2	37	c.2339T>C	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	C	1.927	-0.446907	0.04572	.	.	ENSG00000214929	ENST00000344803	T	0.06933	3.24	2.85	-5.69	0.02428	.	1.785280	0.02728	N	0.114702	T	0.04137	0.0115	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42616	-0.9441	10	0.02654	T	1	2.6794	0.1966	0.00140	0.2885:0.2539:0.1501:0.3075	.	780	Q6ZQQ2	F75D1_HUMAN	A	780	ENSP00000341988:V780A	ENSP00000341988:V780A	V	+	2	0	FAM75D1	83797544	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.772000	0.04694	-2.161000	0.00785	-1.325000	0.01285	GTC		0.473	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		30	42	0	0	0	0	30	42				
WNK2	65268	broad.mit.edu	37	9	96051365	96051365	+	Silent	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr9:96051365G>A	ENST00000297954.4	+	20	4440	c.4440G>A	c.(4438-4440)ccG>ccA	p.P1480P	WNK2_ENST00000349097.3_Silent_p.P1092P|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395477.2_Silent_p.P1443P|WNK2_ENST00000427277.2_Silent_p.P1055P|WNK2_ENST00000395475.2_3'UTR	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1480					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						ACGAGGCCCCGCTTGCTGTGC	0.677																																						uc004ati.1		NA																	0				lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12						c.(4438-4440)CCG>CCA		WNK lysine deficient protein kinase 2							17.0	19.0	18.0					9																	96051365		2198	4293	6491	SO:0001819	synonymous_variant	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96051365G>A	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.4440G>A	9.37:g.96051365G>A						WNK2_uc011lud.1_Silent_p.P1443P|WNK2_uc004atj.2_Silent_p.P1443P|WNK2_uc004atk.2_Silent_p.P1080P|WNK2_uc004atl.1_Silent_p.P38P	p.P1480P	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN			20	4440	+			1480					Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Silent	SNP	ENST00000297954.4	37	c.4440G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.888|4.888	0.164978|0.164978	0.09339|0.09339	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000411624|ENST00000432730;ENST00000448251	.|.	.|.	.|.	5.46|5.46	2.19|2.19	0.27852|0.27852	.|.	.|.	.|.	.|.	.|.	T|T	0.33147|0.33147	0.0853|0.0853	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999995|0.999995	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.21586|0.21586	-1.0241|-1.0241	4|4	.|.	.|.	.|.	.|.	7.4734|7.4734	0.27361|0.27361	0.4106:0.0:0.5894:0.0|0.4106:0.0:0.5894:0.0	.|.	.|.	.|.	.|.	T|H	1047|1439;240	.|.	.|.	A|R	+|+	1|2	0|0	WNK2|WNK2	95091186|95091186	0.000000|0.000000	0.05858|0.05858	0.005000|0.005000	0.12908|0.12908	0.010000|0.010000	0.07245|0.07245	0.161000|0.161000	0.16481|0.16481	0.696000|0.696000	0.31696|0.31696	-0.254000|-0.254000	0.11334|0.11334	GCT|CGC		0.677	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		8	0	0	0	0	0	8	0				
FANCC	2176	broad.mit.edu	37	9	98011545	98011545	+	Missense_Mutation	SNP	C	C	T	rs143152201		TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr9:98011545C>T	ENST00000289081.3	-	2	283	c.29G>A	c.(28-30)tGt>tAt	p.C10Y	FANCC_ENST00000375305.1_Missense_Mutation_p.C10Y	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	10					DNA repair (GO:0006281)|germ cell development (GO:0007281)|myeloid cell homeostasis (GO:0002262)|nucleotide-excision repair (GO:0006289)|protein complex assembly (GO:0006461)|removal of superoxide radicals (GO:0019430)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				CTGATAATCACAAGAAAGATC	0.478			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				C|||	1	0.000199681	0.0	0.0	5008	,	,		18479	0.0		0.0	False		,,,				2504	0.001					uc004avh.2		NA	yes	Rec		Fanconi anaemia C	9	9q22.3	2176	D|Mis|N|F|S	"""Fanconi anemia, complementation group C"""			L		AML|leukemia			0				kidney(1)	1						c.(28-30)TGT>TAT	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group C		C	TYR/CYS	0,4406		0,0,2203	83.0	75.0	78.0		29	2.3	0.6	9	dbSNP_134	78	3,8597	3.0+/-9.4	0,3,4297	yes	missense	FANCC	NM_000136.2	194	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	possibly-damaging	10/559	98011545	3,13003	2203	4300	6503	SO:0001583	missense	2176	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	protein complex assembly	cytosol|nucleoplasm	protein binding	g.chr9:98011545C>T	BC006303	CCDS35071.1, CCDS75861.1	9q22.3	2014-09-17			ENSG00000158169	ENSG00000158169		"""Fanconi anemia, complementation groups"""	3584	protein-coding gene	gene with protein product		613899		FACC		1303234	Standard	NM_001243743		Approved	FAC, FA3	uc004avh.3	Q00597	OTTHUMG00000020279	ENST00000289081.3:c.29G>A	9.37:g.98011545C>T	ENSP00000289081:p.Cys10Tyr					FANCC_uc004avi.3_Missense_Mutation_p.C10Y|FANCC_uc010mrm.1_RNA|FANCC_uc011lul.1_RNA	p.C10Y	NM_000136	NP_000127	Q00597	FANCC_HUMAN			2	291	-		Acute lymphoblastic leukemia(62;0.138)	10					B1ALR8	Missense_Mutation	SNP	ENST00000289081.3	37	c.29G>A	CCDS35071.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.338616	0.41398	0.0	3.49E-4	ENSG00000158169	ENST00000289081;ENST00000375305;ENST00000433829	T;T;T	0.48201	0.82;0.82;0.82	5.13	2.3	0.28687	.	0.687234	0.15296	N	0.269872	T	0.22475	0.0542	N	0.08118	0	0.09310	N	1	P;P	0.38148	0.62;0.62	B;B	0.35655	0.207;0.207	T	0.09357	-1.0678	10	0.62326	D	0.03	-9.2059	3.1985	0.06641	0.3393:0.2324:0.4283:0.0	.	10;10	B1ALR7;Q00597	.;FANCC_HUMAN	Y	10	ENSP00000289081:C10Y;ENSP00000364454:C10Y;ENSP00000406908:C10Y	ENSP00000289081:C10Y	C	-	2	0	FANCC	97051366	0.992000	0.36948	0.617000	0.29091	0.982000	0.71751	1.975000	0.40569	0.862000	0.35528	-0.171000	0.13296	TGT		0.478	FANCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053219.1	NM_000136		16	9	0	0	0	0	16	9				
TEX10	54881	broad.mit.edu	37	9	103092287	103092287	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr9:103092287G>C	ENST00000374902.4	-	6	1591	c.1415C>G	c.(1414-1416)tCt>tGt	p.S472C	TEX10_ENST00000535814.1_Missense_Mutation_p.S475C|TEX10_ENST00000537512.1_Missense_Mutation_p.S407C	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	472						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		ATTTAGCCTAGAGCCATCTTC	0.423																																						uc004bas.2		NA																	0				ovary(1)|skin(1)	2						c.(1414-1416)TCT>TGT		testis expressed 10 isoform 1							169.0	160.0	163.0					9																	103092287		2203	4300	6503	SO:0001583	missense	54881					integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding	g.chr9:103092287G>C	AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"""testis expressed gene 10"", ""testis expressed sequence 10"""			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.1415C>G	9.37:g.103092287G>C	ENSP00000364037:p.Ser472Cys					TEX10_uc011lvf.1_Missense_Mutation_p.S311C|TEX10_uc011lvg.1_Missense_Mutation_p.S475C|TEX10_uc011lvh.1_Missense_Mutation_p.S407C	p.S472C	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.157)	6	1630	-		Acute lymphoblastic leukemia(62;0.0527)	472					B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Missense_Mutation	SNP	ENST00000374902.4	37	c.1415C>G	CCDS6748.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.834424	0.32421	.	.	ENSG00000136891	ENST00000535814;ENST00000374902;ENST00000444730;ENST00000429235;ENST00000537512	T;T	0.66099	-0.19;-0.19	5.45	-3.94	0.04130	Armadillo-type fold (1);	0.772101	0.12764	N	0.441085	T	0.31670	0.0804	N	0.12182	0.205	0.24055	N	0.996034	B;B;B;B	0.12630	0.001;0.001;0.006;0.0	B;B;B;B	0.10450	0.001;0.001;0.005;0.0	T	0.11155	-1.0599	10	0.37606	T	0.19	1.3829	0.5128	0.00598	0.2344:0.2366:0.2828:0.2462	.	407;475;340;472	B7Z9D5;B4DYV2;E7ERG2;Q9NXF1	.;.;.;TEX10_HUMAN	C	475;472;340;117;407	ENSP00000444555:S475C;ENSP00000364037:S472C	ENSP00000364037:S472C	S	-	2	0	TEX10	102132108	0.320000	0.24616	0.968000	0.41197	0.997000	0.91878	-0.068000	0.11561	-0.276000	0.09206	0.655000	0.94253	TCT		0.423	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053416.1	NM_017746		49	43	0	0	0	0	49	43				
MURC	347273	broad.mit.edu	37	9	103348551	103348551	+	Missense_Mutation	SNP	C	C	A	rs148950537		TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr9:103348551C>A	ENST00000307584.5	+	2	978	c.913C>A	c.(913-915)Ccc>Acc	p.P305T		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	305					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Z disc (GO:0030018)				endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				GTCTCTGGGCCCCATCAGTGA	0.587																																						uc004bba.2		NA																	0				ovary(1)	1						c.(913-915)CCC>ACC		muscle-related coiled-coil protein							86.0	90.0	89.0					9																	103348551		2203	4300	6503	SO:0001583	missense	347273				cell differentiation|muscle organ development|transcription, DNA-dependent			g.chr9:103348551C>A	BC090888	CCDS35083.1	9q31.1	2014-09-17			ENSG00000170681	ENSG00000170681			33742	protein-coding gene	gene with protein product	"""muscle-restricted coiled-coil protein"""					18508909, 18332105	Standard	NM_001018116		Approved	cavin-4, CAVIN4	uc004bba.3	Q5BKX8	OTTHUMG00000020368	ENST00000307584.5:c.913C>A	9.37:g.103348551C>A	ENSP00000418668:p.Pro305Thr						p.P305T	NM_001018116	NP_001018126	Q5BKX8	MURC_HUMAN			2	1003	+		Acute lymphoblastic leukemia(62;0.0461)	305					B1PRL3|B4DT88	Missense_Mutation	SNP	ENST00000307584.5	37	c.913C>A	CCDS35083.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.591977	0.66219	.	.	ENSG00000170681	ENST00000307584	T	0.68181	-0.31	5.28	4.39	0.52855	.	0.297898	0.33199	N	0.005171	T	0.57989	0.2091	L	0.32530	0.975	0.41057	D	0.985346	P	0.36909	0.573	B	0.40901	0.343	T	0.57596	-0.7784	10	0.35671	T	0.21	-16.4542	12.0031	0.53243	0.0:0.9146:0.0:0.0854	.	305	Q5BKX8	MURC_HUMAN	T	305	ENSP00000418668:P305T	ENSP00000418668:P305T	P	+	1	0	MURC	102388372	0.995000	0.38212	0.119000	0.21687	0.096000	0.18686	4.507000	0.60434	1.368000	0.46115	0.555000	0.69702	CCC		0.587	MURC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053419.2	NM_001018116		5	62	1	0	0.00307968	0.00660153	5	62				
MEGF9	1955	broad.mit.edu	37	9	123476100	123476100	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr9:123476100G>T	ENST00000373930.3	-	1	648	c.537C>A	c.(535-537)agC>agA	p.S179R	MEGF9_ENST00000426959.1_Missense_Mutation_p.S171R	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	179	Pro-rich.					integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						TGTTGCTGCTGCTGGGGAGAT	0.731																																						uc004bkj.1		NA																	0					0						c.(511-513)AGC>AGA		multiple EGF-like-domains 9							12.0	16.0	15.0					9																	123476100		1862	4037	5899	SO:0001583	missense	1955					integral to membrane	calcium ion binding	g.chr9:123476100G>T	AB011542	CCDS48010.1, CCDS48010.2	9q32-q33.3	2008-07-21	2006-03-31	2006-03-31	ENSG00000106780	ENSG00000106780			3234	protein-coding gene	gene with protein product		604268	"""EGF-like-domain, multiple 5"""	EGFL5		9693030	Standard	NM_001080497		Approved		uc022bms.1	Q9H1U4	OTTHUMG00000021039	ENST00000373930.3:c.537C>A	9.37:g.123476100G>T	ENSP00000363040:p.Ser179Arg					MEGF9_uc011lyb.1_Missense_Mutation_p.S171R|MEGF9_uc004bkk.3_Missense_Mutation_p.S171R	p.S171R	NM_001080497	NP_001073966	Q9H1U4	MEGF9_HUMAN			1	513	-			179			Extracellular (Potential).|Pro-rich.		B7Z315|O75098	Missense_Mutation	SNP	ENST00000373930.3	37	c.513C>A	CCDS48010.2	.	.	.	.	.	.	.	.	.	.	G	13.23	2.175613	0.38413	.	.	ENSG00000106780	ENST00000373930;ENST00000426959	T;T	0.18657	2.24;2.2	3.32	2.37	0.29283	.	0.374636	0.17457	N	0.173599	T	0.09113	0.0225	N	0.14661	0.345	0.09310	N	1	P;B	0.41041	0.736;0.346	B;B	0.38156	0.266;0.207	T	0.15122	-1.0448	10	0.16420	T	0.52	.	3.8991	0.09152	0.1279:0.0:0.6313:0.2408	.	179;171	Q9H1U4;C9J1K8	MEGF9_HUMAN;.	R	179;171	ENSP00000363040:S179R;ENSP00000392666:S171R	ENSP00000363040:S179R	S	-	3	2	MEGF9	122515921	0.026000	0.19158	0.018000	0.16275	0.175000	0.22909	0.059000	0.14322	0.676000	0.31285	0.591000	0.81541	AGC		0.731	MEGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055513.1	NM_001080497		5	32	1	0	0.00198382	0.00426321	5	32				
PTGS1	5742	broad.mit.edu	37	9	125148893	125148893	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr9:125148893C>G	ENST00000362012.2	+	9	1183	c.1178C>G	c.(1177-1179)tCc>tGc	p.S393C	PTGS1_ENST00000223423.4_Missense_Mutation_p.S393C|PTGS1_ENST00000373698.5_Missense_Mutation_p.S284C|AL162424.1_ENST00000600713.1_Intron|PTGS1_ENST00000540753.1_Missense_Mutation_p.S368C	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	393					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	ATGCCTGACTCCTTCAAGGTG	0.552																																						uc004bmg.1		NA																	0				ovary(1)|skin(1)	2						c.(1177-1179)TCC>TGC		prostaglandin-endoperoxide synthase 1 isoform 1	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)						176.0	161.0	166.0					9																	125148893		2203	4300	6503	SO:0001583	missense	5742				cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr9:125148893C>G	M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.1178C>G	9.37:g.125148893C>G	ENSP00000354612:p.Ser393Cys					PTGS1_uc011lys.1_Missense_Mutation_p.S368C|PTGS1_uc010mwb.1_Missense_Mutation_p.S284C|PTGS1_uc004bmf.1_Missense_Mutation_p.S393C|PTGS1_uc004bmh.1_Missense_Mutation_p.S284C|PTGS1_uc011lyt.1_Missense_Mutation_p.S284C	p.S393C	NM_000962	NP_000953	P23219	PGH1_HUMAN			9	1313	+			393					A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Missense_Mutation	SNP	ENST00000362012.2	37	c.1178C>G	CCDS6842.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.424850	0.62733	.	.	ENSG00000095303	ENST00000540753;ENST00000362012;ENST00000223423;ENST00000373698	T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4	5.17	5.17	0.71159	.	0.348829	0.34291	N	0.004096	T	0.82010	0.4944	M	0.85299	2.745	0.42162	D	0.991603	D;D;D	0.67145	0.996;0.987;0.989	D;P;P	0.70016	0.967;0.876;0.879	D	0.84982	0.0889	10	0.72032	D	0.01	-25.4197	12.7459	0.57281	0.1639:0.8361:0.0:0.0	.	368;393;393	B4DHQ2;P23219;P23219-2	.;PGH1_HUMAN;.	C	368;393;393;284	ENSP00000437709:S368C;ENSP00000354612:S393C;ENSP00000223423:S393C;ENSP00000362802:S284C	ENSP00000223423:S393C	S	+	2	0	PTGS1	124188714	0.980000	0.34600	0.993000	0.49108	0.978000	0.69477	2.512000	0.45485	2.403000	0.81681	0.655000	0.94253	TCC		0.552	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1			77	40	0	0	0	0	77	40				
REXO4	57109	broad.mit.edu	37	9	136277920	136277920	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr9:136277920C>T	ENST00000371942.3	-	3	893	c.694G>A	c.(694-696)Gtg>Atg	p.V232M	REXO4_ENST00000478037.1_5'UTR|REXO4_ENST00000371935.2_Intron	NM_020385.2	NP_065118.2	Q9GZR2	REXO4_HUMAN	REX4, RNA exonuclease 4 homolog (S. cerevisiae)	232					regulation of transcription, DNA-templated (GO:0006355)	nucleolus (GO:0005730)|nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	15				OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)		TGCTCTTTCACGAGGCTGAGG	0.627																																						uc004cdm.2		NA																	0					0						c.(694-696)GTG>ATG		XPMC2 prevents mitotic catastrophe 2 homolog							87.0	64.0	71.0					9																	136277920		2203	4300	6503	SO:0001583	missense	57109					nucleolus	exonuclease activity|nucleic acid binding|sequence-specific DNA binding transcription factor activity	g.chr9:136277920C>T	AF273304	CCDS6969.1, CCDS65179.1	9q34	2008-02-05	2005-08-22	2005-08-22	ENSG00000148300	ENSG00000148300			12820	protein-coding gene	gene with protein product		602930	"""Xenopus prevents mitotic catatrophe 2 homolog"", ""XPMC2 prevents mitotic catastrophe 2 homolog (Xenopus laevis)"""	XPMC2H		9325058	Standard	NM_020385		Approved		uc004cdm.3	Q9GZR2	OTTHUMG00000020870	ENST00000371942.3:c.694G>A	9.37:g.136277920C>T	ENSP00000361010:p.Val232Met					ADAMTS13_uc004cdp.3_5'Flank|REXO4_uc011mde.1_Missense_Mutation_p.V95M|REXO4_uc011mdf.1_Missense_Mutation_p.V95M|REXO4_uc004cdn.2_Translation_Start_Site|REXO4_uc004cdo.2_Intron	p.V232M	NM_020385	NP_065118	Q9GZR2	REXO4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)	3	894	-			232					B2RAT2|Q5T8S4|Q5T8S5|Q5T8S6|Q9GZW3	Missense_Mutation	SNP	ENST00000371942.3	37	c.694G>A	CCDS6969.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.026494	0.75390	.	.	ENSG00000148300	ENST00000453165;ENST00000371942;ENST00000445916	T;T;T	0.27104	1.93;1.96;1.69	4.94	4.94	0.65067	.	0.068264	0.56097	D	0.000021	T	0.50086	0.1595	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	P	0.61592	0.891	T	0.54309	-0.8313	10	0.52906	T	0.07	.	17.1557	0.86791	0.0:1.0:0.0:0.0	.	232	Q9GZR2	REXO4_HUMAN	M	217;232;139	ENSP00000403272:V217M;ENSP00000361010:V232M;ENSP00000391534:V139M	ENSP00000361010:V232M	V	-	1	0	REXO4	135267741	1.000000	0.71417	0.951000	0.38953	0.639000	0.38242	4.239000	0.58694	2.291000	0.77112	0.555000	0.69702	GTG		0.627	REXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054899.1			10	27	0	0	0	0	10	27				
KLHL15	80311	broad.mit.edu	37	X	24006507	24006507	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chrX:24006507C>T	ENST00000328046.8	-	4	1601	c.1346G>A	c.(1345-1347)aGc>aAc	p.S449N		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	449					protein ubiquitination (GO:0016567)					autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						CCCTTCTTTGCTGGGGTCAAA	0.458																																						uc004dba.3		NA																	0				ovary(1)|breast(1)	2						c.(1345-1347)AGC>AAC		kelch-like 15							163.0	135.0	144.0					X																	24006507		2203	4300	6503	SO:0001583	missense	80311							g.chrX:24006507C>T	AB051464	CCDS35217.1	Xp22.1-p21	2013-01-30	2013-01-30		ENSG00000174010	ENSG00000174010		"""Kelch-like"", ""BTB/POZ domain containing"""	29347	protein-coding gene	gene with protein product			"""kelch-like 15 (Drosophila)"""			11214970, 14702039	Standard	NM_030624		Approved	KIAA1677	uc004dba.4	Q96M94	OTTHUMG00000021261	ENST00000328046.8:c.1346G>A	X.37:g.24006507C>T	ENSP00000332791:p.Ser449Asn						p.S449N	NM_030624	NP_085127	Q96M94	KLH15_HUMAN			4	1602	-			449			Kelch 3.		Q32MN3|Q8NDA3|Q96BM6|Q9C0I6	Missense_Mutation	SNP	ENST00000328046.8	37	c.1346G>A	CCDS35217.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.852816	0.32699	.	.	ENSG00000174010	ENST00000328046	T	0.73789	-0.78	5.94	5.94	0.96194	Kelch-type beta propeller (1);	0.044377	0.85682	D	0.000000	T	0.67097	0.2857	L	0.33137	0.985	0.46981	D	0.999275	B	0.17852	0.024	B	0.18871	0.023	T	0.60311	-0.7288	10	0.23302	T	0.38	.	19.2359	0.93858	0.0:1.0:0.0:0.0	.	449	Q96M94	KLH15_HUMAN	N	449	ENSP00000332791:S449N	ENSP00000332791:S449N	S	-	2	0	KLHL15	23916428	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.174000	0.77620	2.494000	0.84150	0.506000	0.49869	AGC		0.458	KLHL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056078.1	XM_040383		44	30	0	0	0	0	44	30				
ABCB7	22	broad.mit.edu	37	X	74334622	74334622	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chrX:74334622T>A	ENST00000373394.3	-	2	220	c.213A>T	c.(211-213)aaA>aaT	p.K71N	ABCB7_ENST00000339447.4_Missense_Mutation_p.K71N|ABCB7_ENST00000253577.3_Missense_Mutation_p.K72N			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	71					cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						CTGAATTGCCTTTTCCCAATC	0.388																																						uc004eca.2		NA																	0				ovary(1)	1						c.(211-213)AAA>AAT		ATP-binding cassette, sub-family B, member 7							152.0	118.0	129.0					X																	74334622		2203	4300	6503	SO:0001583	missense	22				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity	g.chrX:74334622T>A	AF038950	CCDS14428.1, CCDS65290.1, CCDS65291.1, CCDS75994.1	Xq13.3	2012-03-14			ENSG00000131269	ENSG00000131269		"""ATP binding cassette transporters / subfamily B"""	48	protein-coding gene	gene with protein product		300135		ABC7		9143506	Standard	NM_004299		Approved	EST140535, Atm1p, ASAT	uc004ebz.4	O75027	OTTHUMG00000021862	ENST00000373394.3:c.213A>T	X.37:g.74334622T>A	ENSP00000362492:p.Lys71Asn					ABCB7_uc004ebz.2_Missense_Mutation_p.K72N|ABCB7_uc011mqn.1_Intron|ABCB7_uc010nls.2_Missense_Mutation_p.K72N|ABCB7_uc010nlt.2_Missense_Mutation_p.K71N	p.K71N	NM_004299	NP_004290	O75027	ABCB7_HUMAN			2	238	-			71					G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Missense_Mutation	SNP	ENST00000373394.3	37	c.213A>T		.	.	.	.	.	.	.	.	.	.	T	7.717	0.696390	0.15106	.	.	ENSG00000131269	ENST00000253577;ENST00000339447;ENST00000373394;ENST00000526404	D;D;D	0.88818	-2.37;-2.43;-2.37	5.34	2.84	0.33178	.	0.889884	0.09994	N	0.729282	T	0.79209	0.4407	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.22146	0.065;0.001;0.057;0.001	B;B;B;B	0.22601	0.04;0.001;0.016;0.003	T	0.61083	-0.7134	10	0.12430	T	0.62	.	4.0253	0.09685	0.1836:0.1007:0.0:0.7157	.	71;72;71;72	G3XAC4;B3KM98;O75027;O75027-2	.;.;ABCB7_HUMAN;.	N	72;71;71;84	ENSP00000253577:K72N;ENSP00000343849:K71N;ENSP00000362492:K71N	ENSP00000253577:K72N	K	-	3	2	ABCB7	74251347	0.498000	0.26075	0.397000	0.26308	0.248000	0.25809	0.567000	0.23608	0.182000	0.20032	0.376000	0.23039	AAA		0.388	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000057274.1	NM_004299		16	8	0	0	0	0	16	8				
DRP2	1821	broad.mit.edu	37	X	100497390	100497390	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chrX:100497390C>G	ENST00000395209.3	+	8	1432	c.905C>G	c.(904-906)tCt>tGt	p.S302C	DRP2_ENST00000402866.1_Missense_Mutation_p.S302C|DRP2_ENST00000538510.1_Missense_Mutation_p.S302C|DRP2_ENST00000541709.1_Missense_Mutation_p.S224C	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	302					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CTTGCCATTTCTGATGTGCAC	0.498																																						uc004egz.2		NA																	0				ovary(2)	2						c.(904-906)TCT>TGT		dystrophin related protein 2							172.0	157.0	162.0					X																	100497390		2203	4300	6503	SO:0001583	missense	1821				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	g.chrX:100497390C>G	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.905C>G	X.37:g.100497390C>G	ENSP00000378635:p.Ser302Cys					DRP2_uc011mrh.1_Missense_Mutation_p.S224C	p.S302C	NM_001939	NP_001930	Q13474	DRP2_HUMAN			8	1274	+			302			Spectrin 2.		A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	ENST00000395209.3	37	c.905C>G	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	C	13.01	2.110589	0.37242	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.46132	0.1377	L	0.43152	1.355	0.54753	D	0.999984	B	0.17852	0.024	B	0.19391	0.025	T	0.36578	-0.9742	10	0.36615	T	0.2	-9.226	13.688	0.62529	0.0:0.8497:0.1503:0.0	.	302	Q13474	DRP2_HUMAN	C	302;302;224;302	ENSP00000385038:S302C;ENSP00000378635:S302C;ENSP00000444752:S224C;ENSP00000441051:S302C	ENSP00000362007:S302C	S	+	2	0	DRP2	100384046	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.696000	0.68287	2.189000	0.69895	0.594000	0.82650	TCT		0.498	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939		93	43	0	0	0	0	93	43				
AFF2	2334	broad.mit.edu	37	X	147733537	147733537	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chrX:147733537G>T	ENST00000370460.2	+	2	544	c.65G>T	c.(64-66)cGt>cTt	p.R22L	AFF2_ENST00000370458.1_Missense_Mutation_p.R22L|AFF2_ENST00000342251.3_Missense_Mutation_p.R22L|AFF2_ENST00000370457.5_Missense_Mutation_p.R22L	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	22					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GAACAAGACCGTAGTGCACTT	0.363																																						uc004fcp.2		NA																	0				ovary(3)|pancreas(2)	5						c.(64-66)CGT>CTT		fragile X mental retardation 2							168.0	161.0	164.0					X																	147733537		2203	4299	6502	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:147733537G>T	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.65G>T	X.37:g.147733537G>T	ENSP00000359489:p.Arg22Leu					AFF2_uc004fco.2_Missense_Mutation_p.R22L|AFF2_uc004fcq.2_Missense_Mutation_p.R22L|AFF2_uc004fcr.2_Missense_Mutation_p.R22L|AFF2_uc011mxb.1_Missense_Mutation_p.R22L|AFF2_uc004fcs.2_Missense_Mutation_p.R22L	p.R22L	NM_002025	NP_002016	P51816	AFF2_HUMAN			2	544	+	Acute lymphoblastic leukemia(192;6.56e-05)		22					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.65G>T	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.024952	0.93518	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000370458	T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000001	D	0.86826	0.6026	L	0.58583	1.82	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;0.998;0.998;0.998;0.999;1.0	D;D;D;D;D;D	0.91635	0.909;0.909;0.909;0.909;0.945;0.999	D	0.87853	0.2659	10	0.87932	D	0	.	18.6599	0.91469	0.0:0.0:1.0:0.0	.	22;22;22;22;22;22	P51816-6;P51816-3;P51816-2;P51816-5;P51816;P51816-4	.;.;.;.;AFF2_HUMAN;.	L	22	ENSP00000359489:R22L;ENSP00000359486:R22L;ENSP00000345459:R22L;ENSP00000359487:R22L	ENSP00000345459:R22L	R	+	2	0	AFF2	147541229	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.188000	0.94921	2.350000	0.79820	0.594000	0.82650	CGT		0.363	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		68	31	1	0	3.62e-42	8.87e-42	68	31				
SYT15	83849	broad.mit.edu	37	10	46968665	46968665	+	Frame_Shift_Del	DEL	G	G	-	rs200814731	byFrequency	TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr10:46968665delG	ENST00000374321.4	-	3	337	c.271delC	c.(271-273)ctgfs	p.L91fs	SYT15_ENST00000503753.1_Frame_Shift_Del_p.L91fs|SYT15_ENST00000374325.3_Frame_Shift_Del_p.L91fs|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374323.4_Frame_Shift_Del_p.L144fs	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	91						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CCACTGTGCAGGGGCACCCAA	0.632																																					Ovarian(57;1152 1428 19651 37745)	uc001jea.2		NA																	0					0						c.(271-273)CTGfs		synaptotagmin XV isoform a							55.0	65.0	62.0					10																	46968665		2127	4249	6376	SO:0001589	frameshift_variant	83849					integral to membrane|plasma membrane		g.chr10:46968665delG	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"""Synaptotagmins"""	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.271delC	10.37:g.46968665delG	ENSP00000363441:p.Leu91fs					SYT15_uc001jdz.2_Frame_Shift_Del_p.L91fs|SYT15_uc001jeb.2_5'UTR|SYT15_uc010qfp.1_5'Flank	p.L91fs	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN			3	424	-			91			Cytoplasmic (Potential).		A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Frame_Shift_Del	DEL	ENST00000374321.4	37	c.271delC	CCDS44376.1																																																																																				0.632	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912		8	50	NA	NA	NA	NA	8	50	---	---	---	---
XPOT	11260	broad.mit.edu	37	12	64818925	64818925	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr12:64818925delT	ENST00000332707.5	+	13	1944	c.1415delT	c.(1414-1416)gttfs	p.V472fs		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	472	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		TCAGGTGATGTTTCAAAAGCT	0.383																																						uc001ssb.2		NA																	0				ovary(2)	2						c.(1414-1416)GTTfs		tRNA exportin							117.0	118.0	118.0					12																	64818925		2203	4300	6503	SO:0001589	frameshift_variant	11260				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	g.chr12:64818925delT	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.1415delT	12.37:g.64818925delT	ENSP00000327821:p.Val472fs						p.V472fs	NM_007235	NP_009166	O43592	XPOT_HUMAN		GBM - Glioblastoma multiforme(28;0.0404)	13	1841	+			472			Necessary for tRNA-binding, cytoplasmic localization and nuclear export.		A6NLH1|O43784|Q8WUG2|Q9BVS7	Frame_Shift_Del	DEL	ENST00000332707.5	37	c.1415delT	CCDS31852.1																																																																																				0.383	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235		55	92	NA	NA	NA	NA	55	92	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578384	7578401	+	In_Frame_Del	DEL	GCAGCGCTCATGGTGGGG	GCAGCGCTCATGGTGGGG	-	rs147002414|rs587782596|rs587780070|rs397514495		TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr17:7578384_7578401delGCAGCGCTCATGGTGGGG	ENST00000269305.4	-	5	718_735	c.529_546delCCCCACCATGAGCGCTGC	c.(529-546)ccccaccatgagcgctgcdel	p.PHHERC177del	TP53_ENST00000445888.2_In_Frame_Del_p.PHHERC177del|TP53_ENST00000455263.2_In_Frame_Del_p.PHHERC177del|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_In_Frame_Del_p.PHHERC177del|TP53_ENST00000413465.2_In_Frame_Del_p.PHHERC177del|TP53_ENST00000420246.2_In_Frame_Del_p.PHHERC177del	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	177	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		CP -> FS (in a sporadic cancer; somatic mutation).|P -> A (in a sporadic cancer; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> I (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|P -> S (in sporadic cancers; somatic mutation).|P -> T (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.H179R(108)|p.H179Y(98)|p.H179L(43)|p.H179Q(23)|p.R181H(21)|p.R181C(19)|p.P177R(18)|p.P177L(17)|p.H178fs*69(16)|p.H179N(16)|p.E180*(14)|p.R181P(14)|p.H179D(13)|p.P177P(10)|p.P177_C182delPHHERC(8)|p.C182S(8)|p.P177S(8)|p.H178Y(8)|p.0?(8)|p.H178D(7)|p.E180D(6)|p.H47Y(6)|p.H178P(6)|p.H86Y(6)|p.E180K(5)|p.H178fs*3(5)|p.H178Q(5)|p.C182*(5)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.P177H(3)|p.H178N(3)|p.R175_E180delRCPHHE(3)|p.R181L(3)|p.R174fs*24(3)|p.H179fs*68(2)|p.H179H(2)|p.H47Q(2)|p.H47R(2)|p.R174fs*1(2)|p.H178H(2)|p.P177fs*3(2)|p.C182R(2)|p.C182Y(2)|p.C182C(2)|p.R49C(2)|p.R88C(2)|p.H86R(2)|p.H86Q(2)|p.H85fs*69(2)|p.R181R(2)|p.H46fs*>45(2)|p.V173fs*59(2)|p.V173fs*69(1)|p.E180G(1)|p.E180fs*67(1)|p.E180Q(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.P45R(1)|p.H178fs*6(1)|p.H47D(1)|p.R174fs*3(1)|p.H47N(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.H178L(1)|p.E171fs*1(1)|p.H179del(1)|p.P177fs*4(1)|p.H168fs*69(1)|p.E180>DGRCPHQ(1)|p.H178del(1)|p.E48D(1)|p.E180_S183del(1)|p.P177T(1)|p.R49P(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R175_H178>X(1)|p.C176_P177delCP(1)|p.P177fs*69(1)|p.R42fs*24(1)|p.R88P(1)|p.C182fs*4(1)|p.R174_E180>K(1)|p.P177I(1)|p.P177_E180delPHHE(1)|p.C182fs*65(1)|p.E87D(1)|p.H85_S90delHHERCS(1)|p.H86D(1)|p.H86N(1)|p.C176fs*65(1)|p.R181G(1)|p.C176fs*68(1)|p.R174_H178>S(1)|p.H46D(1)|p.R181>XXXXXXX(1)|p.H178_H179>QY(1)|p.H85D(1)|p.?(1)|p.R81fs*24(1)|p.H46_S51delHHERCS(1)|p.P84R(1)|p.P177_H179delPHH(1)|p.E180fs*6(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)	CGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTC	0.638		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		643	Substitution - Missense(509)|Deletion - Frameshift(46)|Deletion - In frame(28)|Substitution - Nonsense(19)|Substitution - coding silent(18)|Insertion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(3)|Complex - insertion inframe(2)|Unknown(1)|Complex - compound substitution(1)	p.H179R(98)|p.H179Y(74)|p.H179L(31)|p.R181H(20)|p.H179Q(17)|p.P177L(17)|p.P177R(15)|p.R181P(14)|p.H179N(13)|p.E180*(13)|p.R181C(13)|p.H178fs*69(10)|p.H179D(10)|p.P177P(10)|p.H178Y(8)|p.P177_C182delPHHERC(8)|p.P177S(8)|p.C182S(8)|p.0?(7)|p.H178P(6)|p.E180K(5)|p.H178fs*3(5)|p.H178Q(5)|p.C182*(5)|p.H178D(4)|p.C176_R181delCPHHER(3)|p.H179P(3)|p.H178N(3)|p.P177H(3)|p.E180D(3)|p.R175_E180delRCPHHE(3)|p.R181L(3)|p.R174fs*24(3)|p.H179fs*68(2)|p.H179H(2)|p.R174fs*1(2)|p.H178H(2)|p.P177fs*3(2)|p.C182Y(2)|p.C182C(2)|p.C182R(2)|p.R181R(2)|p.V173fs*59(2)|p.V173fs*69(1)|p.R175_H178>X(1)|p.E180G(1)|p.E180fs*67(1)|p.E180Q(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.H178fs*6(1)|p.H178L(1)|p.R174fs*3(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.P177fs*4(1)|p.H168fs*69(1)|p.E180>DGRCPHQ(1)|p.H178del(1)|p.P177I(1)|p.E180_S183del(1)|p.P177T(1)|p.K164_P219del(1)|p.R49P(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.C176_P177delCP(1)|p.P177fs*69(1)|p.R42fs*24(1)|p.R88P(1)|p.C182fs*4(1)|p.R174_E180>K(1)|p.P177_E180delPHHE(1)|p.C182fs*65(1)|p.C176fs*65(1)|p.R181G(1)|p.C176fs*68(1)|p.R174_H178>S(1)|p.R181>XXXXXXX(1)|p.H178_H179>QY(1)|p.?(1)|p.R81fs*24(1)|p.P177_H179delPHH(1)|p.E180fs*6(1)	lung(96)|large_intestine(79)|upper_aerodigestive_tract(69)|breast(68)|skin(44)|ovary(43)|oesophagus(40)|central_nervous_system(35)|haematopoietic_and_lymphoid_tissue(31)|liver(27)|urinary_tract(22)|stomach(21)|endometrium(12)|pancreas(11)|prostate(9)|biliary_tract(8)|bone(8)|soft_tissue(5)|salivary_gland(3)|vulva(2)|kidney(2)|thyroid(2)|cervix(2)|genital_tract(2)|eye(1)|thymus(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CD983489|CM056067|CM067054|CM920671|CM920672|CM941328|CM942120	TP53	D|M	rs68130327	c.(529-546)CCCCACCATGAGCGCTGCdel	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a																																				SO:0001651	inframe_deletion	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.chr17:7578384_7578401delGCAGCGCTCATGGTGGGG	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.529_546delCCCCACCATGAGCGCTGC	17.37:g.7578384_7578401delGCAGCGCTCATGGTGGGG	ENSP00000269305:p.Pro177_Cys182del	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_In_Frame_Del_p.PHHERC177del|TP53_uc002gih.2_In_Frame_Del_p.PHHERC177del|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_In_Frame_Del_p.PHHERC45del|TP53_uc010cng.1_In_Frame_Del_p.PHHERC45del|TP53_uc002gii.1_In_Frame_Del_p.PHHERC45del|TP53_uc010cnh.1_In_Frame_Del_p.PHHERC177del|TP53_uc010cni.1_In_Frame_Del_p.PHHERC177del|TP53_uc002gij.2_In_Frame_Del_p.PHHERC177del|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_In_Frame_Del_p.PHHERC84del|TP53_uc002gio.2_In_Frame_Del_p.PHHERC45del|TP53_uc010vug.1_In_Frame_Del_p.PHHERC138del	p.PHHERC177del	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	723_740	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	177_182		C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||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	In_Frame_Del	DEL	ENST00000269305.4	37	c.529_546delCCCCACCATGAGCGCTGC	CCDS11118.1																																																																																				0.638	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		19	29	NA	NA	NA	NA	19	29	---	---	---	---
SOWAHC	65124	broad.mit.edu	37	2	110373348	110373349	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr2:110373348_110373349delCT	ENST00000356454.3	+	1	1438_1439	c.1282_1283delCT	c.(1282-1284)ctcfs	p.L428fs	SEPT10_ENST00000415095.1_5'Flank|SEPT10_ENST00000437928.1_5'Flank|SEPT10_ENST00000356688.4_5'Flank|SEPT10_ENST00000545389.1_5'Flank|SEPT10_ENST00000397712.2_5'Flank|SEPT10_ENST00000397714.2_5'Flank|SEPT10_ENST00000334001.6_5'Flank	NM_023016.3	NP_075392.2	Q53LP3	SWAHC_HUMAN	sosondowah ankyrin repeat domain family member C	428																	CACCTACAAACTCTCACACGCC	0.644																																						uc002tfb.2		NA																	0					0						c.(1282-1284)CTCfs		ankyrin repeat domain 57				5,4261		2,1,2130						1.1	0.9			44	25,8229		11,3,4113	no	frameshift	ANKRD57	NM_023016.3		13,4,6243	A1A1,A1R,RR		0.3029,0.1172,0.2396				30,12490				SO:0001589	frameshift_variant	65124							g.chr2:110373348_110373349delCT	AK023346	CCDS33270.1	2q13	2013-01-10	2012-01-12	2012-01-12	ENSG00000198142	ENSG00000198142		"""Ankyrin repeat domain containing"""	26149	protein-coding gene	gene with protein product			"""ankyrin repeat domain 57"""	C2orf26, ANKRD57		22234889	Standard	NM_023016		Approved	FLJ21870	uc002tfb.3	Q53LP3	OTTHUMG00000153219	ENST00000356454.3:c.1282_1283delCT	2.37:g.110373350_110373351delCT	ENSP00000365830:p.Leu428fs					SEPT10_uc010ywu.1_5'Flank|SEPT10_uc002tew.2_5'Flank|SEPT10_uc002tex.2_5'Flank|SEPT10_uc002tey.2_5'Flank|SEPT10_uc010ywv.1_5'Flank	p.L428fs	NM_023016	NP_075392	Q53LP3	ANR57_HUMAN			1	1438_1439	+			428					Q8NE15|Q9H6U1	Frame_Shift_Del	DEL	ENST00000356454.3	37	c.1282_1283delCT	CCDS33270.1																																																																																				0.644	SOWAHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330168.1	NM_023016		16	43	NA	NA	NA	NA	16	43	---	---	---	---
KLHDC8B	200942	broad.mit.edu	37	3	49213226	49213226	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr3:49213226delG	ENST00000332780.2	+	6	1266	c.1057delG	c.(1057-1059)gggfs	p.G353fs	C3orf84_ENST00000443990.1_5'Flank	NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	353						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCTGCGTGATGGGGTCTGAAG	0.602																																						uc003cwh.2		NA																	0					0						c.(1057-1059)GGGfs		kelch domain containing 8B							48.0	43.0	45.0					3																	49213226		2203	4300	6503	SO:0001589	frameshift_variant	200942					cytoplasm		g.chr3:49213226delG		CCDS2791.1	3p21.31	2008-02-05			ENSG00000185909	ENSG00000185909			28557	protein-coding gene	gene with protein product		613169					Standard	NM_173546		Approved	MGC35097	uc003cwh.3	Q8IXV7	OTTHUMG00000156814	ENST00000332780.2:c.1057delG	3.37:g.49213226delG	ENSP00000327468:p.Gly353fs					KLHDC8B_uc003cwi.1_3'UTR	p.G353fs	NM_173546	NP_775817	Q8IXV7	KLD8B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	6	1242	+			353			Kelch 8.			Frame_Shift_Del	DEL	ENST00000332780.2	37	c.1057delG	CCDS2791.1																																																																																				0.602	KLHDC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345974.1	NM_173546		27	27	NA	NA	NA	NA	27	27	---	---	---	---
COPS4	51138	broad.mit.edu	37	4	83970432	83970433	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr4:83970432_83970433insA	ENST00000264389.2	+	3	403_404	c.268_269insA	c.(268-270)gaafs	p.E90fs	COPS4_ENST00000511708.1_3'UTR|COPS4_ENST00000509093.1_Frame_Shift_Ins_p.E90fs|COPS4_ENST00000511653.1_Frame_Shift_Ins_p.E90fs|COPS4_ENST00000503682.1_Frame_Shift_Ins_p.E90fs	NM_016129.2	NP_057213.2	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	90					cullin deneddylation (GO:0010388)|protein deneddylation (GO:0000338)	cell junction (GO:0030054)|COP9 signalosome (GO:0008180)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)				endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				CTTCACCTTGGAAAAGATCCAG	0.406																																						uc003hoa.2		NA																	0				kidney(1)	1						c.(268-270)GAAfs		COP9 signalosome subunit 4																																				SO:0001589	frameshift_variant	51138				cullin deneddylation	cytoplasm|signalosome	protein binding	g.chr4:83970432_83970433insA	AF100757	CCDS3600.1, CCDS58909.1	4q21.22	2013-03-14	2013-03-14		ENSG00000138663	ENSG00000138663			16702	protein-coding gene	gene with protein product			"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 4"", ""COP9 constitutive photomorphogenic homolog subunit 4 (Arabidopsis)"""			9707402	Standard	NM_016129		Approved	CSN4	uc003hoa.3	Q9BT78	OTTHUMG00000130298	ENST00000264389.2:c.272dupA	4.37:g.83970436_83970436dupA	ENSP00000264389:p.Glu90fs					COPS4_uc003hob.2_Frame_Shift_Ins_p.E90fs|COPS4_uc010ijw.2_Frame_Shift_Ins_p.E90fs|COPS4_uc010ijx.2_Frame_Shift_Ins_p.E90fs	p.E90fs	NM_016129	NP_057213	Q9BT78	CSN4_HUMAN			3	407_408	+		Hepatocellular(203;0.114)	90					B3KN88|B3KST5|Q561W7|Q9NW31|Q9Y677	Frame_Shift_Ins	INS	ENST00000264389.2	37	c.268_269insA	CCDS3600.1																																																																																				0.406	COPS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252643.1			15	35	NA	NA	NA	NA	15	35	---	---	---	---
TRERF1	55809	broad.mit.edu	37	6	42196333	42196333	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr6:42196333delT	ENST00000372922.4	-	18	3915	c.3353delA	c.(3352-3354)aagfs	p.K1118fs	TRERF1_ENST00000340840.2_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000354325.2_Frame_Shift_Del_p.K1035fs|TRERF1_ENST00000372917.4_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000541110.1_Frame_Shift_Del_p.K1138fs	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1118	Interacts with CREBBP.				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)			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)			CTTCTGAGCCTTTTGCCTCTG	0.542																																						uc003osd.2		NA																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(3352-3354)AAGfs		transcriptional regulating factor 1							245.0	274.0	264.0					6																	42196333		2203	4300	6503	SO:0001589	frameshift_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.chr6:42196333delT	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.3353delA	6.37:g.42196333delT	ENSP00000362013:p.Lys1118fs					TRERF1_uc011duq.1_Frame_Shift_Del_p.K1035fs|TRERF1_uc003osb.2_Frame_Shift_Del_p.K886fs|TRERF1_uc003osc.2_Frame_Shift_Del_p.K874fs|TRERF1_uc003ose.2_Frame_Shift_Del_p.K1138fs	p.K1118fs	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		18	3916	-	Colorectal(47;0.196)		1118			Interacts with CREBBP.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Frame_Shift_Del	DEL	ENST00000372922.4	37	c.3353delA	CCDS4867.1																																																																																				0.542	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		7	642	NA	NA	NA	NA	7	642	---	---	---	---
RUNDC3B	154661	broad.mit.edu	37	7	87459335	87459343	+	Stop_Codon_Del	DEL	CTCCATCCT	CTCCATCCT	-			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr7:87459335_87459343delCTCCATCCT	ENST00000338056.3	+	0	1823_1831				RUNDC3B_ENST00000394654.3_Stop_Codon_Del|RUNDC3B_ENST00000493037.1_Stop_Codon_Del	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B											breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					CCAGGCCTAACTCCATCCTGAAAATTTTT	0.354																																						uc003ujb.2		NA																	0				skin(1)	1						c.(1411-1422)ACTCCATCCTGA>AGA		RUN domain containing 3B isoform a																																				SO:0001567	stop_retained_variant	154661							g.chr7:87459335_87459343delCTCCATCCT		CCDS5609.1, CCDS47635.1, CCDS47636.1	7q21.12	2009-01-14			ENSG00000105784	ENSG00000105784			30286	protein-coding gene	gene with protein product						12645870	Standard	NM_138290		Approved	RPIP9, RPIB9	uc003ujb.3	Q96NL0	OTTHUMG00000131035	Exception_encountered	7.37:g.87459335_87459343delCTCCATCCT	ENSP00000337732:p.*474Trpext*23					RUNDC3B_uc011khe.1_In_Frame_Del_p.454_457TPS*>R|RUNDC3B_uc003ujc.2_In_Frame_Del_p.405_408TPS*>R|RUNDC3B_uc003ujd.2_In_Frame_Del_p.327_330TPS*>R	p.471_474TPS*>R	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN			12	1823_1831	+	Esophageal squamous(14;0.00164)		471_474					B4DFD0|E9PBR4|Q8IWW5|Q8NB55|Q8TBG7	In_Frame_Del	DEL	ENST00000338056.3	37	c.1412_1420delCTCCATCCT	CCDS5609.1																																																																																				0.354	RUNDC3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253679.1	NM_138290		11	64	NA	NA	NA	NA	11	64	---	---	---	---
