#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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
TNFRSF1B	7133	broad.mit.edu	37	1	12253005	12253005	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr1:12253005G>C	ENST00000376259.3	+	6	726	c.637G>C	c.(637-639)Gca>Cca	p.A213P	TNFRSF1B_ENST00000492361.1_3'UTR|MIR4632_ENST00000584158.1_RNA	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	213					aging (GO:0007568)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lipopolysaccharide (GO:0071222)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of inflammatory response (GO:0050728)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|RNA destabilization (GO:0050779)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|varicosity (GO:0043196)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)	p.A213P(1)		central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)	GGCCCCAGGGGCAGTACACTT	0.617																																						uc001att.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	liver(1)|central_nervous_system(1)|skin(1)	3						c.(637-639)GCA>CCA		tumor necrosis factor receptor 2 precursor	Etanercept(DB00005)|Infliximab(DB00065)						166.0	121.0	136.0					1																	12253005		2203	4300	6503	SO:0001583	missense	7133				apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity	g.chr1:12253005G>C	M32315	CCDS145.1	1p36.22	2008-02-05			ENSG00000028137	ENSG00000028137		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11917	protein-coding gene	gene with protein product		191191		TNFR2		2158863, 8702885	Standard	NM_001066		Approved	TNFBR, TNFR80, TNF-R75, TNF-R-II, p75, CD120b	uc001att.3	P20333	OTTHUMG00000001829	ENST00000376259.3:c.637G>C	1.37:g.12253005G>C	ENSP00000365435:p.Ala213Pro					TNFRSF1B_uc001atu.2_Missense_Mutation_p.A18P|TNFRSF1B_uc009vnk.2_RNA	p.A213P	NM_001066	NP_001057	P20333	TNR1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	6	726	+	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	213			Extracellular (Potential).		B1AJZ3|Q16042|Q6YI29|Q9UIH1	Missense_Mutation	SNP	ENST00000376259.3	37	c.637G>C	CCDS145.1	.	.	.	.	.	.	.	.	.	.	G	4.601	0.111664	0.08831	.	.	ENSG00000028137	ENST00000376259;ENST00000400863	D	0.86097	-2.07	3.76	-2.82	0.05787	.	3.257590	0.00864	N	0.001941	T	0.55226	0.1907	N	0.00465	-1.465	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.55490	-0.8133	10	0.19147	T	0.46	1.5799	3.7604	0.08602	0.1571:0.2915:0.4492:0.1022	.	213	P20333	TNR1B_HUMAN	P	213	ENSP00000365435:A213P	ENSP00000365435:A213P	A	+	1	0	TNFRSF1B	12175592	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.463000	0.02361	-0.675000	0.05246	-0.830000	0.03078	GCA		0.617	TNFRSF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005133.1		NM_001066		19	54	0	0	0	0.069288	0	19	54		
ACTL8	81569	broad.mit.edu	37	1	18152501	18152501	+	Silent	SNP	C	C	G			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr1:18152501C>G	ENST00000375406.1	+	3	804	c.588C>G	c.(586-588)cgC>cgG	p.R196R		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	196					epithelial cell differentiation (GO:0030855)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R196R(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		GCGATAGACGCTGCCTGTTTC	0.597											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001bat.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(4)	4						c.(586-588)CGC>CGG		actin-like 8							37.0	38.0	38.0					1																	18152501		2203	4300	6503	SO:0001819	synonymous_variant	81569					cytoplasm|cytoskeleton		g.chr1:18152501C>G	AK057339	CCDS183.1	1p36.2-p35	2009-03-25			ENSG00000117148	ENSG00000117148			24018	protein-coding gene	gene with protein product	"""cancer/testis antigen 57"""						Standard	NM_030812		Approved	CT57	uc001bat.3	Q9H568	OTTHUMG00000002512	ENST00000375406.1:c.588C>G	1.37:g.18152501C>G			OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	723		p.R196R	NM_030812	NP_110439	Q9H568	ACTL8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	3	804	+		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	196					Q13104|Q96M75	Silent	SNP	ENST00000375406.1	37	c.588C>G	CCDS183.1																																																																																				0.597	ACTL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007143.1		NM_030812		11	63	0	0	0	0.080935	0	11	63		
RIMS3	9783	broad.mit.edu	37	1	41101634	41101634	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr1:41101634G>A	ENST00000372684.3	-	4	782	c.313C>T	c.(313-315)Cgg>Tgg	p.R105W	RIMS3_ENST00000372683.1_Missense_Mutation_p.R105W	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	105					calcium ion-dependent exocytosis (GO:0017156)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)		p.R105W(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			GTGGACTCCCGGCTGCCCTGG	0.682																																						uc001cfu.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(313-315)CGG>TGG		regulating synaptic membrane exocytosis 3							74.0	65.0	68.0					1																	41101634		2203	4299	6502	SO:0001583	missense	9783				neurotransmitter transport	cell junction|synapse		g.chr1:41101634G>A	BC003103	CCDS30687.1	1p34.2	2013-09-19			ENSG00000117016	ENSG00000117016			21292	protein-coding gene	gene with protein product		611600				12620390, 10748113	Standard	NM_014747		Approved	RIM3, NIM3	uc001cfu.1	Q9UJD0	OTTHUMG00000007453	ENST00000372684.3:c.313C>T	1.37:g.41101634G>A	ENSP00000361769:p.Arg105Trp					RIMS3_uc001cfv.1_Missense_Mutation_p.R105W	p.R105W	NM_014747	NP_055562	Q9UJD0	RIMS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)		4	782	-	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	105					D3DPV8|Q92511|X5D7U7	Missense_Mutation	SNP	ENST00000372684.3	37	c.313C>T	CCDS30687.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169674	0.78452	.	.	ENSG00000117016	ENST00000372684;ENST00000372683	T;T	0.39997	1.05;1.05	5.01	4.07	0.47477	.	0.056995	0.64402	D	0.000002	T	0.56232	0.1971	M	0.69358	2.11	0.47065	D	0.999304	D	0.76494	0.999	P	0.61874	0.895	T	0.57562	-0.7790	10	0.51188	T	0.08	-22.6696	10.3576	0.43974	0.0:0.0:0.6429:0.3571	.	105	Q9UJD0	RIMS3_HUMAN	W	105	ENSP00000361769:R105W;ENSP00000361768:R105W	ENSP00000361768:R105W	R	-	1	2	RIMS3	40874221	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.798000	0.69095	1.315000	0.45114	0.650000	0.86243	CGG		0.682	RIMS3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019585.1		NM_014747		7	91	0	0	0	0.038147	0	7	91		
ELAVL4	1996	broad.mit.edu	37	1	50666658	50666658	+	Silent	SNP	T	T	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr1:50666658T>C	ENST00000371823.4	+	7	1175	c.951T>C	c.(949-951)ttT>ttC	p.F317F	ELAVL4_ENST00000371821.1_Silent_p.F322F|ELAVL4_ENST00000357083.4_Silent_p.F320F|ELAVL4_ENST00000371819.1_Silent_p.F308F|ELAVL4_ENST00000371824.1_Silent_p.F303F|ELAVL4_ENST00000448907.2_Silent_p.F306F|ELAVL4_ENST00000371827.1_Silent_p.F303F	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	317	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)	p.F317F(1)|p.F320F(1)		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						GGCAGCTCTTTGGCCCCTTTG	0.507																																						uc001csb.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(1)|pancreas(1)	2						c.(949-951)TTT>TTC		ELAV-like 4 isoform 1							124.0	115.0	118.0					1																	50666658		2203	4300	6503	SO:0001819	synonymous_variant	1996				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding	g.chr1:50666658T>C	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.951T>C	1.37:g.50666658T>C						ELAVL4_uc001cry.3_Silent_p.F306F|ELAVL4_uc001crz.3_Silent_p.F303F|ELAVL4_uc001csa.3_Silent_p.F320F|ELAVL4_uc001csc.3_Silent_p.F303F|ELAVL4_uc010omz.1_Silent_p.F308F	p.F317F	NM_021952	NP_068771	P26378	ELAV4_HUMAN			7	1219	+			317			RRM 3.		B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Silent	SNP	ENST00000371823.4	37	c.951T>C	CCDS553.1																																																																																				0.507	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000021712.1		NM_021952		34	123	0	0	0	0.050027	0	34	123		
LHX8	431707	broad.mit.edu	37	1	75622760	75622760	+	Splice_Site	SNP	T	T	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr1:75622760T>A	ENST00000294638.5	+	9	1657	c.993T>A	c.(991-993)gaT>gaA	p.D331E	LHX8_ENST00000356261.3_Splice_Site_p.D321E	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	331					female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.D331E(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						GTTATATGGATGGTAGGTATC	0.418																																						uc001dgo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)	3						c.(991-993)GAT>GAA		LIM homeobox 8							157.0	145.0	149.0					1																	75622760		2203	4300	6503	SO:0001630	splice_region_variant	431707					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:75622760T>A	AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"""Homeoboxes / LIM class"""	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.994+1T>A	1.37:g.75622760T>A						LHX8_uc001dgq.2_Missense_Mutation_p.D270E	p.D331E	NM_001001933	NP_001001933	Q68G74	LHX8_HUMAN			9	1657	+			331					E9PGE3	Missense_Mutation	SNP	ENST00000294638.5	37	c.993T>A	CCDS30756.1	.	.	.	.	.	.	.	.	.	.	T	7.533	0.659041	0.14645	.	.	ENSG00000162624	ENST00000294638;ENST00000356261	D;D	0.85702	-2.02;-2.01	5.36	2.99	0.34606	.	0.000000	0.85682	D	0.000000	T	0.63792	0.2541	L	0.31065	0.9	0.44871	D	0.99788	P	0.45902	0.868	P	0.46110	0.504	T	0.63994	-0.6511	10	0.08381	T	0.77	.	9.9718	0.41759	0.0:0.1398:0.0:0.8602	.	331	Q68G74	LHX8_HUMAN	E	331;321	ENSP00000294638:D331E;ENSP00000348597:D321E	ENSP00000294638:D331E	D	+	3	2	LHX8	75395348	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.432000	0.34936	0.411000	0.25702	0.455000	0.32223	GAT		0.418	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026700.1		NM_001001933	Missense_Mutation	57	58	0	0	0	0.048971	0	57	58		
HFM1	164045	broad.mit.edu	37	1	91739336	91739336	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr1:91739336C>A	ENST00000370425.3	-	34	3803	c.3705G>T	c.(3703-3705)atG>atT	p.M1235I	HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.M914I|HFM1_ENST00000294696.5_Missense_Mutation_p.M467I	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1235					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.M1235I(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CCCACTGCTCCATTATAGGCA	0.308																																						uc001doa.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(3703-3705)ATG>ATT		HFM1 protein							131.0	117.0	121.0					1																	91739336		2203	4299	6502	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91739336C>A	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.3705G>T	1.37:g.91739336C>A	ENSP00000359454:p.Met1235Ile					HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Missense_Mutation_p.M914I|HFM1_uc001dob.3_Missense_Mutation_p.M423I|HFM1_uc010osv.1_Missense_Mutation_p.M919I	p.M1235I	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	34	3805	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	1235					B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.3705G>T	CCDS30769.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.559|4.559	0.103830|0.103830	0.08731|0.08731	.|.	.|.	ENSG00000162669|ENSG00000162669	ENST00000370425;ENST00000294696;ENST00000370424|ENST00000430465	T;T;T|.	0.62498|.	0.4;0.75;0.02|.	5.7|5.7	1.67|1.67	0.24075|0.24075	.|.	0.553829|.	0.18065|.	N|.	0.152806|.	T|T	0.18383|0.18383	0.0441|0.0441	L|L	0.51422|0.51422	1.61|1.61	0.18873|0.18873	N|N	0.999981|0.999981	B;B;B|.	0.10296|.	0.003;0.003;0.003|.	B;B;B|.	0.09377|.	0.004;0.002;0.002|.	T|T	0.27226|0.27226	-1.0080|-1.0080	10|5	0.18276|.	T|.	0.48|.	.|.	3.3841|3.3841	0.07265|0.07265	0.1816:0.533:0.0:0.2855|0.1816:0.533:0.0:0.2855	.|.	914;446;1235|.	A6NGI5;B1B0B5;A2PYH4|.	.;.;HFM1_HUMAN|.	I|L	1235;467;914|447	ENSP00000359454:M1235I;ENSP00000294696:M467I;ENSP00000359453:M914I|.	ENSP00000294696:M467I|.	M|W	-|-	3|2	0|0	HFM1|HFM1	91511924|91511924	0.146000|0.146000	0.22672|0.22672	0.920000|0.920000	0.36463|0.36463	0.491000|0.491000	0.33493|0.33493	0.772000|0.772000	0.26647|0.26647	0.308000|0.308000	0.22923|0.22923	0.561000|0.561000	0.74099|0.74099	ATG|TGG		0.308	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2		NM_001017975		14	164	1	0	2.31682e-05	0.024245	2.39517e-05	14	164		
PLPPR4	9890	broad.mit.edu	37	1	99772549	99772549	+	Silent	SNP	C	C	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr1:99772549C>A	ENST00000370185.3	+	7	2772	c.2275C>A	c.(2275-2277)Cgg>Agg	p.R759R	LPPR4_ENST00000457765.1_Silent_p.R701R|LPPR4_ENST00000370184.1_Silent_p.R601R	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		759					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)	p.R759R(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CTCCCCCACACGGGCTTATAA	0.458																																						uc001dse.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(1)|lung(1)	ovary(3)	3						c.(2275-2277)CGG>AGG		plasticity related gene 1							79.0	78.0	78.0					1																	99772549		2201	4296	6497	SO:0001819	synonymous_variant	9890						phosphatidate phosphatase activity	g.chr1:99772549C>A																												ENST00000370185.3:c.2275C>A	1.37:g.99772549C>A						LPPR4_uc010oue.1_Silent_p.R701R	p.R759R	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	2381	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	759					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Silent	SNP	ENST00000370185.3	37	c.2275C>A	CCDS757.1																																																																																				0.458	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2				83	111	1	0	3.82636e-28	0.048971	4.42617e-28	83	111		
S1PR1	1901	broad.mit.edu	37	1	101704696	101704697	+	Missense_Mutation	DNP	CA	CA	AT			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr1:101704696_101704697CA>AT	ENST00000305352.6	+	2	531_532	c.156_157CA>AT	c.(154-159)ttCAtt>ttATtt	p.52_53FI>LF	RP4-575N6.4_ENST00000432195.1_RNA|S1PR1_ENST00000475821.1_3'UTR	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	52					actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)	p.F52L(1)|p.I53F(1)|p.F52>?(1)		NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						CGGTGGTGTTCATTCTCATCTG	0.436											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001dud.2		NaN																	3	Substitution - Missense(2)|Complex(1)		urinary_tract(3)	ovary(2)|lung(1)	3						c.(154-159)TTCATT>TTATTT		sphingosine-1-phosphate receptor 1																																				SO:0001583	missense	1901				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr1:101704696_101704697CA>AT	M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"", ""CD molecules"""	3165	protein-coding gene	gene with protein product		601974	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"""	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	Exception_encountered	1.37:g.101704696_101704697delinsAT	ENSP00000305416:p.F52_I53delinsLF		OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1360	S1PR1_uc009weg.2_Missense_Mutation_p.52_53FI>LF	p.52_53FI>LF	NM_001400	NP_001391	P21453	S1PR1_HUMAN			2	670_671	+			52_53			Helical; Name=1; (By similarity).		D3DT66|Q9BYY4|Q9NYN8	Missense_Mutation	DNP	ENST00000305352.6	37	c.156_157CA>AT	CCDS777.1																																																																																				0.436	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029908.1		NM_001400		55	107	0	0	0	0.004672	0	55	107		
GPR61	83873	broad.mit.edu	37	1	110085756	110085756	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr1:110085756G>T	ENST00000527748.1	+	2	795	c.112G>T	c.(112-114)Gat>Tat	p.D38Y	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	38						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.D38Y(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		GGGGCTACGGGATGTTGCTTC	0.612																																						uc001dxy.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(2)	2						c.(112-114)GAT>TAT		G protein-coupled receptor 61							151.0	153.0	152.0					1																	110085756		2203	4300	6503	SO:0001583	missense	83873					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:110085756G>T	AF317652	CCDS801.1	1p13.3	2012-08-21			ENSG00000156097	ENSG00000156097		"""GPCR / Class A : Orphans"""	13300	protein-coding gene	gene with protein product		606916				11165367, 11690637	Standard	NM_031936		Approved	BALGR	uc001dxy.2	Q9BZJ8	OTTHUMG00000011633	ENST00000527748.1:c.112G>T	1.37:g.110085756G>T	ENSP00000432456:p.Asp38Tyr						p.D38Y	NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)	2	795	+		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	38			Extracellular (Potential).		A8K1W2|Q6NWS0|Q8TDV4|Q96PR4	Missense_Mutation	SNP	ENST00000527748.1	37	c.112G>T	CCDS801.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.359765	0.41801	.	.	ENSG00000156097	ENST00000527748;ENST00000286603	T	0.71934	-0.61	4.91	4.91	0.64330	.	0.286292	0.29948	N	0.010792	T	0.47078	0.1426	N	0.14661	0.345	0.42923	D	0.994291	P	0.52316	0.952	B	0.42692	0.395	T	0.61004	-0.7150	10	0.87932	D	0	-14.3208	16.0567	0.80812	0.0:0.0:1.0:0.0	.	38	Q9BZJ8	GPR61_HUMAN	Y	38;166	ENSP00000432456:D38Y	ENSP00000286603:D166Y	D	+	1	0	GPR61	109887279	0.881000	0.30235	0.975000	0.42487	0.733000	0.41908	0.923000	0.28757	2.547000	0.85894	0.555000	0.69702	GAT		0.612	GPR61-005	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385575.1				32	206	1	0	1.39806e-14	0.037714	1.52645e-14	32	206		
BGLAP	632	broad.mit.edu	37	1	156212941	156212941	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr1:156212941C>A	ENST00000368272.4	+	4	561	c.291C>A	c.(289-291)taC>taA	p.Y97*	PMF1-BGLAP_ENST00000320139.5_3'UTR|PMF1-BGLAP_ENST00000368276.4_3'UTR|PMF1-BGLAP_ENST00000490491.1_3'UTR|PAQR6_ENST00000492619.1_5'Flank	NM_199173.4	NP_954642.1	P02818	OSTCN_HUMAN	bone gamma-carboxyglutamate (gla) protein	97	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.				bone development (GO:0060348)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cell aging (GO:0007569)|cellular response to growth factor stimulus (GO:0071363)|cellular response to vitamin D (GO:0071305)|odontogenesis (GO:0042476)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of osteoclast differentiation (GO:0045670)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to gravity (GO:0009629)|response to hydroxyisoflavone (GO:0033594)|response to mechanical stimulus (GO:0009612)|response to testosterone (GO:0033574)|response to vitamin D (GO:0033280)|response to vitamin K (GO:0032571)|response to zinc ion (GO:0010043)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|perikaryon (GO:0043204)|rough endoplasmic reticulum (GO:0005791)	calcium ion binding (GO:0005509)|hydroxyapatite binding (GO:0046848)|structural constituent of bone (GO:0008147)|structural molecule activity (GO:0005198)	p.Y97*(1)		large_intestine(3)|lung(1)|urinary_tract(1)	5	Hepatocellular(266;0.158)				Gallium nitrate(DB05260)|Menadione(DB00170)|Phylloquinone(DB01022)	GGCGCTTCTACGGCCCGGTCT	0.637																																						uc001fnt.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(289-291)TAC>TAA		osteocalcin preproprotein	Phytonadione(DB01022)						101.0	99.0	100.0					1																	156212941		2203	4300	6503	SO:0001587	stop_gained	632				bone mineralization|cell adhesion|odontogenesis|regulation of bone mineralization|regulation of bone resorption|regulation of osteoclast differentiation		calcium ion binding|hydroxyapatite binding|structural constituent of bone	g.chr1:156212941C>A	X04143	CCDS1134.1	1q22	2014-05-13	2008-08-01		ENSG00000242252	ENSG00000242252			1043	protein-coding gene	gene with protein product	"""osteocalcin"""	112260				2785029, 2394711	Standard	NM_199173		Approved	OCN	uc001fnt.3	P02818	OTTHUMG00000014819	ENST00000368272.4:c.291C>A	1.37:g.156212941C>A	ENSP00000357255:p.Tyr97*					BGLAP_uc001fns.1_3'UTR	p.Y97*	NM_199173	NP_954642	P02818	OSTCN_HUMAN			4	363	+	Hepatocellular(266;0.158)		97			Gla.		Q5TCK6	Nonsense_Mutation	SNP	ENST00000368272.4	37	c.291C>A	CCDS1134.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.092336	0.76756	.	.	ENSG00000242252	ENST00000368272	.	.	.	4.79	-1.74	0.08056	.	.	.	.	.	.	.	.	.	.	.	0.36136	D	0.846435	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.9208	0.47163	0.0:0.3634:0.0:0.6366	.	.	.	.	X	97	.	ENSP00000357255:Y97X	Y	+	3	2	BGLAP	154479565	0.165000	0.22948	0.789000	0.31954	0.794000	0.44872	-1.047000	0.03521	-0.553000	0.06158	-0.258000	0.10820	TAC		0.637	BGLAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040867.2		NM_199173		48	143	1	0	8.72198e-27	0.048971	1.0035e-26	48	143		
SPTA1	6708	broad.mit.edu	37	1	158631163	158631163	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr1:158631163C>T	ENST00000368147.4	-	18	2681	c.2501G>A	c.(2500-2502)aGg>aAg	p.R834K		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	834					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.R834K(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GACTCTATGCCTATTCAGAAG	0.423																																						uc001fst.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(2500-2502)AGG>AAG		spectrin, alpha, erythrocytic 1							177.0	168.0	171.0					1																	158631163		1900	4126	6026	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158631163C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2501G>A	1.37:g.158631163C>T	ENSP00000357129:p.Arg834Lys						p.R834K	NM_003126	NP_003117	P02549	SPTA1_HUMAN			18	2700	-	all_hematologic(112;0.0378)		834			Spectrin 9.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.2501G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.239254	0.22711	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.38401	1.14;1.14	4.93	4.93	0.64822	.	.	.	.	.	T	0.03827	0.0108	N	0.01679	-0.765	0.36500	D	0.868979	B	0.18968	0.032	B	0.23275	0.045	T	0.39502	-0.9611	9	0.02654	T	1	.	7.3214	0.26529	0.0:0.8239:0.0:0.1761	.	834	P02549	SPTA1_HUMAN	K	834	ENSP00000357130:R834K;ENSP00000357129:R834K	ENSP00000357129:R834K	R	-	2	0	SPTA1	156897787	1.000000	0.71417	0.997000	0.53966	0.581000	0.36288	4.784000	0.62411	2.545000	0.85829	0.650000	0.86243	AGG		0.423	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3		NM_003126		36	140	0	0	0	0.074837	0	36	140		
OR6K2	81448	broad.mit.edu	37	1	158670235	158670236	+	Nonsense_Mutation	DNP	CC	CC	AG			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr1:158670235_158670236CC>AG	ENST00000359610.2	-	1	250_251	c.207_208GG>CT	c.(205-210)ctGGag>ctCTag	p.E70*		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E70*(2)|p.L69L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TACCAAATCTCCAGGAAAGAAA	0.436																																						uc001fsu.1		NaN																	3	Substitution - Nonsense(2)|Substitution - coding silent(1)		urinary_tract(3)	pancreas(1)	1						c.(205-210)CTGGAG>CTCTAG		olfactory receptor, family 6, subfamily K,																																				SO:0001587	stop_gained	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158670235_158670236CC>AG	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.207_208delinsAG	1.37:g.158670235_158670236delinsAG	ENSP00000352626:p.Glu70*						p.E70*	NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN			1	207_208	-	all_hematologic(112;0.0378)		70			Helical; Name=2; (Potential).		B9EH33|Q6IFR6	Nonsense_Mutation	DNP	ENST00000359610.2	37	c.207_208GG>CT	CCDS30902.1																																																																																				0.436	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1		NM_001005279		11	62	0	0	0	0.004672	0	11	62		
OR6N1	128372	broad.mit.edu	37	1	158736303	158736303	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr1:158736303G>A	ENST00000335094.2	-	1	189	c.170C>T	c.(169-171)aCa>aTa	p.T57I		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T57I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					GTACATGGGTGTGTGAAGCCG	0.483																																						uc010piq.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(169-171)ACA>ATA		olfactory receptor, family 6, subfamily N,							98.0	95.0	96.0					1																	158736303		2203	4300	6503	SO:0001583	missense	128372				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158736303G>A	BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"""GPCR / Class A : Olfactory receptors"""	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.170C>T	1.37:g.158736303G>A	ENSP00000335535:p.Thr57Ile						p.T57I	NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN			1	170	-	all_hematologic(112;0.0378)		57			Helical; Name=2; (Potential).		Q5VUU8|Q96R35	Missense_Mutation	SNP	ENST00000335094.2	37	c.170C>T	CCDS30905.1	.	.	.	.	.	.	.	.	.	.	G	8.977	0.974415	0.18736	.	.	ENSG00000197403	ENST00000335094	T	0.00479	7.12	5.1	1.14	0.20703	GPCR, rhodopsin-like superfamily (1);	0.295363	0.24294	N	0.039796	T	0.00210	0.0006	M	0.83774	2.66	0.30216	N	0.797256	B	0.02656	0.0	B	0.06405	0.002	T	0.45041	-0.9288	10	0.66056	D	0.02	0.0051	4.4103	0.11429	0.2296:0.0:0.5019:0.2685	.	57	Q8NGY5	OR6N1_HUMAN	I	57	ENSP00000335535:T57I	ENSP00000335535:T57I	T	-	2	0	OR6N1	157002927	0.001000	0.12720	0.957000	0.39632	0.492000	0.33523	0.328000	0.19681	0.050000	0.15949	0.655000	0.94253	ACA		0.483	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059067.1		NM_001005185		29	98	0	0	0	0.034045	0	29	98		
MR1	3140	broad.mit.edu	37	1	181018369	181018369	+	Silent	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr1:181018369G>A	ENST00000367580.5	+	2	254	c.249G>A	c.(247-249)agG>agA	p.R83R	MR1_ENST00000367579.3_Silent_p.R83R|MR1_ENST00000434571.2_Silent_p.R83R|MR1_ENST00000438435.2_3'UTR|MR1_ENST00000282990.6_Silent_p.R83R	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	83	Alpha-1.|Ligand-binding.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	MHC class I receptor activity (GO:0032393)|peptide antigen binding (GO:0042605)	p.R83R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18					Antithymocyte globulin(DB00098)	ACTGGGAGAGGTACACTCAGC	0.582																																					Colon(174;1412 1962 45296 46549 47110)	uc001goq.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(1)	1						c.(247-249)AGG>AGA		major histocompatibility complex, class							46.0	46.0	46.0					1																	181018369		2203	4300	6503	SO:0001819	synonymous_variant	3140				antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr1:181018369G>A	AF010446	CCDS1342.1, CCDS53440.1, CCDS53441.1, CCDS53442.1	1q25.3	2013-01-11	2003-03-05	2003-03-07	ENSG00000153029	ENSG00000153029		"""Immunoglobulin superfamily / C1-set domain containing"""	4975	protein-coding gene	gene with protein product		600764	"""major histocompatibility complex, class I-like sequence"""	HLALS		7624800, 9784382	Standard	NM_001194999		Approved		uc001goq.2	Q95460	OTTHUMG00000035175	ENST00000367580.5:c.249G>A	1.37:g.181018369G>A						MR1_uc001gop.2_Silent_p.R83R|MR1_uc001gor.1_Silent_p.R83R|MR1_uc001gos.1_Silent_p.R83R|MR1_uc010pns.1_Silent_p.R83R	p.R83R	NM_001531	NP_001522	Q95460	HMR1_HUMAN			2	254	+			83			Extracellular (Potential).|Ligand-binding.|Alpha-1.		A8K2V9|B4E3B1|O97985|O97986|Q53GM1|Q95HB8|Q9MY23|Q9NPL2|Q9TQB3|Q9TQB9|Q9TQK3	Silent	SNP	ENST00000367580.5	37	c.249G>A	CCDS1342.1																																																																																				0.582	MR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085134.2		NM_001531		14	47	0	0	0	0.105934	0	14	47		
CACNA1E	777	broad.mit.edu	37	1	181725138	181725138	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr1:181725138C>T	ENST00000367573.2	+	29	4036	c.4036C>T	c.(4036-4038)Cgg>Tgg	p.R1346W	CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1327W|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1346W|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1278W|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R953W|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R1327W|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1297W	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1346					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.R1346W(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGTGAAGGGCCGGGAATGGAA	0.493																																						uc001gow.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(4036-4038)CGG>TGG		calcium channel, voltage-dependent, R type,							89.0	89.0	89.0					1																	181725138		1961	4155	6116	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181725138C>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.4036C>T	1.37:g.181725138C>T	ENSP00000356545:p.Arg1346Trp					CACNA1E_uc009wxs.2_Missense_Mutation_p.R1234W|CACNA1E_uc001gox.1_Missense_Mutation_p.R572W|CACNA1E_uc009wxt.2_Missense_Mutation_p.R572W	p.R1346W	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			29	4201	+			1346			Extracellular (Potential).|III.		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.4036C>T	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.450028	0.84101	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98649	-5.05;-5.05;-5.05;-5.05;-5.05;-5.05;-5.05	5.6	5.6	0.85130	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99429	0.9798	H	0.96662	3.86	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.997	D	0.98442	1.0587	10	0.87932	D	0	.	14.4272	0.67225	0.1475:0.8525:0.0:0.0	.	1327;1346;1346	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	W	1346;1327;1297;1278;953;1327;1346	ENSP00000356542:R1346W;ENSP00000434814:R1327W;ENSP00000350183:R1297W;ENSP00000351101:R1278W;ENSP00000356539:R953W;ENSP00000353222:R1327W;ENSP00000356545:R1346W	ENSP00000350183:R1297W	R	+	1	2	CACNA1E	179991761	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.061000	0.49963	2.788000	0.95919	0.650000	0.86243	CGG		0.493	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2		NM_000721		11	51	0	0	0	0.09319	0	11	51		
TROVE2	6738	broad.mit.edu	37	1	193038543	193038543	+	Missense_Mutation	SNP	G	G	A	rs374893141		TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr1:193038543G>A	ENST00000367446.3	+	2	569	c.359G>A	c.(358-360)cGc>cAc	p.R120H	TROVE2_ENST00000460715.2_Intron|TROVE2_ENST00000367445.3_Missense_Mutation_p.R120H|TROVE2_ENST00000367444.3_Missense_Mutation_p.R120H|TROVE2_ENST00000416058.2_5'UTR|TROVE2_ENST00000432079.1_Intron|TROVE2_ENST00000367441.1_Missense_Mutation_p.R120H|TROVE2_ENST00000400968.2_Missense_Mutation_p.R120H|TROVE2_ENST00000367443.1_Missense_Mutation_p.R120H	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2	120	RNA-binding. {ECO:0000250}.|TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				cilium morphogenesis (GO:0060271)|immune system development (GO:0002520)|response to UV (GO:0009411)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|U2 snRNA binding (GO:0030620)	p.R120H(1)		biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						GAAGTTTGTCGCATTCCTACC	0.448																																						uc001gss.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(358-360)CGC>CAC		TROVE domain family, member 2 isoform 2		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,3826		0,0,1913	88.0	80.0	83.0		359,359,359,359,359	3.7	1.0	1		83	1,8269		0,1,4134	no	missense,missense,missense,missense,missense	TROVE2	NM_001042369.2,NM_001042370.2,NM_001173524.1,NM_001173525.1,NM_004600.5	29,29,29,29,29	0,1,6047	AA,AG,GG		0.0121,0.0,0.0083	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	120/526,120/535,120/539,120/519,120/539	193038543	1,12095	1913	4135	6048	SO:0001583	missense	6738				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|RNA binding	g.chr1:193038543G>A	BC036658	CCDS41449.1, CCDS1379.1, CCDS41450.1, CCDS41450.2, CCDS53451.1	1q31	2014-08-06	2005-06-14	2005-06-14	ENSG00000116747	ENSG00000116747			11313	protein-coding gene	gene with protein product		600063	"""Sjogren syndrome antigen A2 (60kDa, ribonucleoprotein autoantigen SS-A/Ro)"""	SSA2		8188321	Standard	NM_001042369		Approved	Ro60	uc001gss.3	P10155	OTTHUMG00000035675	ENST00000367446.3:c.359G>A	1.37:g.193038543G>A	ENSP00000356416:p.Arg120His					TROVE2_uc001gst.1_Intron|TROVE2_uc001gsu.1_Intron|TROVE2_uc001gsv.1_Missense_Mutation_p.R120H|TROVE2_uc001gsw.2_Missense_Mutation_p.R120H|TROVE2_uc009wyp.2_Missense_Mutation_p.R120H|TROVE2_uc009wyq.2_Missense_Mutation_p.R120H|TROVE2_uc001gsx.1_Missense_Mutation_p.R120H	p.R120H	NM_004600	NP_004591	P10155	RO60_HUMAN			2	534	+			120			TROVE.		B2RBB9|Q5LJ98|Q5LJ99|Q5LJA0|Q86WL3|Q86WL4|Q92787|Q9H1W6	Missense_Mutation	SNP	ENST00000367446.3	37	c.359G>A	CCDS1379.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.990252	0.74589	0.0	1.21E-4	ENSG00000116747	ENST00000400968;ENST00000367446;ENST00000367443;ENST00000367445;ENST00000367444;ENST00000367441;ENST00000512587	T;T;T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24;2.24;2.24	5.55	3.65	0.41850	TROVE (2);	0.257962	0.39083	N	0.001478	T	0.41880	0.1178	M	0.86651	2.83	0.80722	D	1	D;D;D;D	0.76494	0.998;0.998;0.999;0.999	D;D;D;P	0.64410	0.925;0.925;0.909;0.867	T	0.43572	-0.9383	10	0.49607	T	0.09	-11.301	10.9403	0.47270	0.0679:0.0:0.8035:0.1286	.	120;120;120;120	Q5LJ99;Q5LJ98;Q5LJA0;P10155	.;.;.;RO60_HUMAN	H	120;120;120;120;120;120;61	ENSP00000383752:R120H;ENSP00000356416:R120H;ENSP00000356413:R120H;ENSP00000356415:R120H;ENSP00000356414:R120H;ENSP00000356411:R120H;ENSP00000424612:R61H	ENSP00000356411:R120H	R	+	2	0	TROVE2	191305166	1.000000	0.71417	0.996000	0.52242	0.955000	0.61496	4.424000	0.59868	1.340000	0.45581	0.655000	0.94253	CGC		0.448	TROVE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086688.1		NM_004600		26	66	0	0	0	0.099896	0	26	66		
CFH	3075	broad.mit.edu	37	1	196658607	196658607	+	Missense_Mutation	SNP	G	G	A	rs371192606		TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr1:196658607G>A	ENST00000359637.2	+	7	892	c.830G>A	c.(829-831)cGt>cAt	p.R277H	CFH_ENST00000439155.2_Missense_Mutation_p.R341H|CFH_ENST00000367429.4_Missense_Mutation_p.R341H			P08603	CFAH_HUMAN	complement factor H	341	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)	p.R341H(2)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GAGAATATGCGTAGACCATAC	0.333																																						uc001gtj.3		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|large_intestine(1)	skin(4)|ovary(1)|breast(1)	6						c.(1021-1023)CGT>CAT		complement factor H isoform a precursor		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	95.0	91.0	92.0		1022,1022	-0.8	0.0	1		92	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CFH	NM_000186.3,NM_001014975.2	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	341/1232,341/450	196658607	1,13005	2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196658607G>A	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.830G>A	1.37:g.196658607G>A	ENSP00000352658:p.Arg277His					CFH_uc001gti.3_Missense_Mutation_p.R341H|CFH_uc009wyw.2_Intron|CFH_uc009wyx.2_Missense_Mutation_p.R277H	p.R341H	NM_000186	NP_000177	P08603	CFAH_HUMAN			8	1262	+			341			Sushi 6.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000359637.2	37	c.1022G>A		.	.	.	.	.	.	.	.	.	.	G	15.05	2.718164	0.48622	0.0	1.16E-4	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	T;T;T	0.72282	-0.64;-0.64;-0.64	5.61	-0.758	0.11049	Complement control module (2);Sushi/SCR/CCP (2);	.	.	.	.	T	0.75561	0.3866	M	0.65975	2.015	0.09310	N	1	D;B;D	0.76494	0.999;0.006;0.981	D;B;P	0.70935	0.971;0.003;0.641	T	0.61544	-0.7041	9	0.37606	T	0.19	.	2.8522	0.05561	0.4256:0.0:0.2655:0.3089	.	277;341;341	Q5TFM2;P08603;F8WDX4	.;CFAH_HUMAN;.	H	341;341;341;277	ENSP00000356399:R341H;ENSP00000402656:R341H;ENSP00000352658:R277H	ENSP00000352658:R277H	R	+	2	0	CFH	194925230	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.799000	0.04560	-0.079000	0.12707	-0.302000	0.09304	CGT		0.333	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1		NM_000186		20	86	0	0	0	0.062417	0	20	86		
MFSD4	148808	broad.mit.edu	37	1	205538365	205538365	+	Silent	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr1:205538365C>T	ENST00000367147.4	+	1	261	c.168C>T	c.(166-168)gtC>gtT	p.V56V	RNU2-19P_ENST00000517288.1_RNA|MFSD4_ENST00000536357.1_Silent_p.V56V|MFSD4_ENST00000539267.1_Silent_p.V56V	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4	56					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.V56V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			TCTCCTGGGTCTTCTTCTCGC	0.701																																						uc001hcv.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(2)|central_nervous_system(1)	3						c.(166-168)GTC>GTT		major facilitator superfamily domain containing							21.0	16.0	17.0					1																	205538365		2200	4291	6491	SO:0001819	synonymous_variant	148808				transmembrane transport	integral to membrane		g.chr1:205538365C>T	BC036549	CCDS1455.1	1q32.1	2008-02-05			ENSG00000174514	ENSG00000174514			25433	protein-coding gene	gene with protein product							Standard	NM_181644		Approved	DKFZp761N1114, FLJ34577, UNQ3064, FLJ25004	uc001hcv.4	Q8N468	OTTHUMG00000037197	ENST00000367147.4:c.168C>T	1.37:g.205538365C>T						MFSD4_uc010prk.1_Silent_p.V56V|MFSD4_uc010prl.1_RNA	p.V56V	NM_181644	NP_857595	Q8N468	MFSD4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0908)		1	254	+	Breast(84;0.07)		56			Helical; (Potential).		B7Z8X3|Q6UY25|Q8NAY0|Q8TCP4	Silent	SNP	ENST00000367147.4	37	c.168C>T	CCDS1455.1																																																																																				0.701	MFSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090391.1		NM_181644		6	14	0	0	0	0.038147	0	6	14		
RBM17	84991	broad.mit.edu	37	10	6155497	6155497	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr10:6155497C>G	ENST00000446108.1	+	9	1527	c.883C>G	c.(883-885)Ccg>Gcg	p.P295A	RBM17_ENST00000379888.4_Missense_Mutation_p.P295A|RBM17_ENST00000476706.1_3'UTR	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	295					alternative mRNA splicing, via spliceosome (GO:0000380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.P295A(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						AGATTCAAATCCGCTGACTGA	0.408																																						uc001ijb.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(883-885)CCG>GCG		RNA binding motif protein 17							137.0	139.0	138.0					10																	6155497		2203	4300	6503	SO:0001583	missense	84991				mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr10:6155497C>G	AF083384	CCDS7077.1	10p15.1	2013-01-28			ENSG00000134453	ENSG00000134453		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	16944	protein-coding gene	gene with protein product	"""splicing factor 45kDa"""	606935				9731529	Standard	NM_032905		Approved	SPF45, MGC14439	uc001ijb.3	Q96I25	OTTHUMG00000017618	ENST00000446108.1:c.883C>G	10.37:g.6155497C>G	ENSP00000388638:p.Pro295Ala					RBM17_uc010qav.1_Missense_Mutation_p.P295A|RBM17_uc001ijc.2_5'Flank	p.P295A	NM_032905	NP_116294	Q96I25	SPF45_HUMAN			9	1109	+			295					Q96GY6	Missense_Mutation	SNP	ENST00000446108.1	37	c.883C>G	CCDS7077.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.423309	0.83559	.	.	ENSG00000134453	ENST00000379888;ENST00000446108	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.52158	0.1717	L	0.29908	0.895	0.80722	D	1	B	0.24721	0.11	B	0.25884	0.064	T	0.46830	-0.9163	9	0.13470	T	0.59	-11.9762	19.5911	0.95511	0.0:1.0:0.0:0.0	.	295	Q96I25	SPF45_HUMAN	A	295	.	ENSP00000369218:P295A	P	+	1	0	RBM17	6195503	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	7.262000	0.78410	2.633000	0.89246	0.561000	0.74099	CCG		0.408	RBM17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046635.1		NM_032905		40	144	0	0	0	0.104719	0	40	144		
ITGA8	8516	broad.mit.edu	37	10	15600156	15600156	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr10:15600156G>A	ENST00000378076.3	-	26	3036	c.2683C>T	c.(2683-2685)Cga>Tga	p.R895*		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	895					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)	p.R895*(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GTAGAGTTTCGCAAAAAGGCG	0.473																																						uc001ioc.1		NaN																	1	Substitution - Nonsense(1)	p.R895Q(1)	urinary_tract(1)	ovary(3)|lung(3)	6						c.(2683-2685)CGA>TGA		integrin, alpha 8 precursor							72.0	70.0	71.0					10																	15600156		2203	4300	6503	SO:0001587	stop_gained	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15600156G>A	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.2683C>T	10.37:g.15600156G>A	ENSP00000367316:p.Arg895*					ITGA8_uc010qcb.1_Nonsense_Mutation_p.R880*	p.R895*	NM_003638	NP_003629	P53708	ITA8_HUMAN			26	2683	-			895			Extracellular (Potential).		B0YJ31|Q5VX94	Nonsense_Mutation	SNP	ENST00000378076.3	37	c.2683C>T	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	G	41	8.774174	0.98948	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	.	.	.	5.95	-0.986	0.10252	.	0.799419	0.11376	N	0.570358	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.3815	0.83462	0.0:0.0:0.2933:0.7067	.	.	.	.	X	895;880	.	ENSP00000367316:R895X	R	-	1	2	ITGA8	15640162	0.022000	0.18835	0.000000	0.03702	0.539000	0.34962	0.310000	0.19356	-0.461000	0.06993	-0.196000	0.12772	CGA		0.473	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1		NM_003638		16	109	0	0	0	0.028581	0	16	109		
ITGA8	8516	broad.mit.edu	37	10	15760853	15760853	+	Silent	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr10:15760853G>A	ENST00000378076.3	-	2	608	c.255C>T	c.(253-255)ccC>ccT	p.P85P		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	85					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)	p.P85P(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CCACGATATCGGGCTGGCTGG	0.582																																						uc001ioc.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)|lung(3)	6						c.(253-255)CCC>CCT		integrin, alpha 8 precursor							106.0	93.0	97.0					10																	15760853		2203	4300	6503	SO:0001819	synonymous_variant	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15760853G>A	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.255C>T	10.37:g.15760853G>A						ITGA8_uc010qcb.1_Silent_p.P85P	p.P85P	NM_003638	NP_003629	P53708	ITA8_HUMAN			2	255	-			85			Extracellular (Potential).|FG-GAP 1.		B0YJ31|Q5VX94	Silent	SNP	ENST00000378076.3	37	c.255C>T	CCDS31155.1																																																																																				0.582	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1		NM_003638		35	114	0	0	0	0.080422	0	35	114		
SKIDA1	387640	broad.mit.edu	37	10	21804178	21804178	+	Silent	SNP	A	A	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr10:21804178A>T	ENST00000449193.2	-	4	4826	c.2574T>A	c.(2572-2574)atT>atA	p.I858I	SKIDA1_ENST00000444772.3_Silent_p.I779I	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	777						nucleus (GO:0005634)		p.I858I(2)									CATCTCTCCCAATAATGAGTG	0.453																																						uc009xkd.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(1)	1						c.(2572-2574)ATT>ATA		hypothetical protein LOC387640							106.0	98.0	101.0					10																	21804178		1881	4110	5991	SO:0001819	synonymous_variant	387640					nucleus	nucleotide binding	g.chr10:21804178A>T	AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 140"""	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.2574T>A	10.37:g.21804178A>T						uc001iqp.1_Intron	p.I858I	NM_207371	NP_997254	Q1XH10	DLN1_HUMAN			4	4827	-			777					B1ANA5|Q6ZMX4|Q8N3C3	Silent	SNP	ENST00000449193.2	37	c.2574T>A	CCDS44363.1																																																																																				0.453	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2		NM_207371		18	54	0	0	0	0.0333	0	18	54		
CSGALNACT2	55454	broad.mit.edu	37	10	43662480	43662480	+	Silent	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr10:43662480C>T	ENST00000374466.3	+	6	1523	c.1188C>T	c.(1186-1188)ttC>ttT	p.F396F		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	396					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)	p.F396F(1)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CTGTGGTGTTCAGTCTTTACA	0.373																																						uc001jan.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(1186-1188)TTC>TTT		chondroitin sulfate							77.0	74.0	75.0					10																	43662480		2203	4300	6503	SO:0001819	synonymous_variant	55454				chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	g.chr10:43662480C>T	AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"""Beta 4-glycosyltransferases"""	24292	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"""					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.1188C>T	10.37:g.43662480C>T							p.F396F	NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN			6	1523	+			396			Lumenal (Potential).		B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Silent	SNP	ENST00000374466.3	37	c.1188C>T	CCDS7201.1																																																																																				0.373	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1		NM_018590		19	44	0	0	0	0.038395	0	19	44		
FAM21C	253725	broad.mit.edu	37	10	46245583	46245583	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr10:46245583G>A	ENST00000336378.4	+	9	890	c.772G>A	c.(772-774)Ggc>Agc	p.G258S	FAM21C_ENST00000540872.1_Missense_Mutation_p.G258S|FAM21C_ENST00000537517.1_Missense_Mutation_p.G258S|FAM21C_ENST00000374362.2_Missense_Mutation_p.G258S|FAM21C_ENST00000359860.4_Missense_Mutation_p.G202S	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C	258	Glu-rich.				retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome (GO:0005768)|plasma membrane (GO:0005886)|WASH complex (GO:0071203)		p.G257S(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GGATGATGATGGCTGTGACCT	0.388																																						uc001jcu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(772-774)GGC>AGC		hypothetical protein LOC253725							147.0	139.0	142.0					10																	46245583		1927	4124	6051	SO:0001583	missense	253725							g.chr10:46245583G>A		CCDS44374.1, CCDS44374.2, CCDS53528.1, CCDS53529.1	10q11.22	2014-05-09			ENSG00000172661	ENSG00000172661			23414	protein-coding gene	gene with protein product		613631				20498093	Standard	NM_015262		Approved	Em:AC012044.3, KIAA0592	uc001jcu.3	Q9Y4E1	OTTHUMG00000018089	ENST00000336378.4:c.772G>A	10.37:g.46245583G>A	ENSP00000337541:p.Gly258Ser					FAM21C_uc001jcs.1_Missense_Mutation_p.G203S|FAM21C_uc001jct.2_Missense_Mutation_p.G258S|FAM21C_uc010qfi.1_Missense_Mutation_p.G258S	p.G258S	NM_015262	NP_056077	A8K5W5	A8K5W5_HUMAN			9	871	+			258					B4DZQ6|B9EK53|F5H0J6|F5H871|Q5SQU4|Q5SQU5|Q7L521|Q9UG79	Missense_Mutation	SNP	ENST00000336378.4	37	c.772G>A		.	.	.	.	.	.	.	.	.	.	G	22.0	4.236547	0.79800	.	.	ENSG00000172661	ENST00000336378;ENST00000540872;ENST00000537517;ENST00000374362;ENST00000399588;ENST00000359860;ENST00000420848;ENST00000436993	.	.	.	3.52	3.52	0.40303	.	0.098404	0.64402	D	0.000001	T	0.69646	0.3134	M	0.69823	2.125	0.37774	D	0.926785	P;P;P;D	0.69078	0.944;0.633;0.633;0.997	P;B;B;D	0.63703	0.572;0.297;0.297;0.917	T	0.71988	-0.4426	9	0.30078	T	0.28	-9.2113	12.9281	0.58272	0.0:0.0:1.0:0.0	.	258;258;258;203	F5H871;Q9Y4E1-4;Q9Y4E1;Q9Y4E1-3	.;.;FA21C_HUMAN;.	S	258;258;258;258;258;202;203;170	.	ENSP00000337541:G258S	G	+	1	0	FAM21C	45565589	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.483000	0.73617	1.957000	0.56846	0.603000	0.83216	GGC		0.388	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding					24	117	0	0	0	0.099896	0	24	117		
ANK3	288	broad.mit.edu	37	10	61829047	61829047	+	Silent	SNP	T	T	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr10:61829047T>C	ENST00000280772.2	-	37	11783	c.11592A>G	c.(11590-11592)aaA>aaG	p.K3864K	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3864					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)	p.K3864K(1)		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						TTATGGGAAGTTTGGATTTTT	0.398																																						uc001jky.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						c.(11590-11592)AAA>AAG		ankyrin 3 isoform 1							284.0	282.0	283.0					10																	61829047		2203	4300	6503	SO:0001819	synonymous_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61829047T>C	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.11592A>G	10.37:g.61829047T>C						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.K3864K	NM_020987	NP_066267	Q12955	ANK3_HUMAN			37	11784	-			3864					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	c.11592A>G	CCDS7258.1																																																																																				0.398	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4		NM_020987		108	328	0	0	0	0.048971	0	108	328		
COL13A1	1305	broad.mit.edu	37	10	71677085	71677085	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr10:71677085C>T	ENST00000398978.3	+	18	1484	c.992C>T	c.(991-993)gCc>gTc	p.A331V	COL13A1_ENST00000357811.3_Missense_Mutation_p.A309V|COL13A1_ENST00000398968.3_Missense_Mutation_p.A312V|COL13A1_ENST00000522165.1_Missense_Mutation_p.A312V|COL13A1_ENST00000398964.3_Missense_Mutation_p.A302V|COL13A1_ENST00000398974.3_Missense_Mutation_p.A319V|COL13A1_ENST00000398969.3_Missense_Mutation_p.A274V|COL13A1_ENST00000354547.3_Missense_Mutation_p.A309V|COL13A1_ENST00000398973.3_Missense_Mutation_p.A331V|COL13A1_ENST00000398972.3_Missense_Mutation_p.A331V|COL13A1_ENST00000517713.1_Missense_Mutation_p.A309V|COL13A1_ENST00000356340.3_Missense_Mutation_p.A331V|COL13A1_ENST00000520267.1_Missense_Mutation_p.A274V|COL13A1_ENST00000398966.3_Missense_Mutation_p.A309V|COL13A1_ENST00000520133.1_Missense_Mutation_p.A280V|COL13A1_ENST00000398971.3_Missense_Mutation_p.A331V	NM_001130103.1	NP_001123575.1			collagen, type XIII, alpha 1									p.A314V(1)|p.A331V(1)		endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						AAGCATGGAGCCAAGGTACCT	0.637																																						uc001jpr.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(991-993)GCC>GTC		alpha 1 type XIII collagen isoform 1	Atorvastatin(DB01076)|Simvastatin(DB00641)						54.0	60.0	59.0					10																	71677085		1994	4160	6154	SO:0001583	missense	1305				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding	g.chr10:71677085C>T	AJ293624	CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2	10q22	2013-01-16			ENSG00000197467	ENSG00000197467		"""Collagens"""	2190	protein-coding gene	gene with protein product		120350					Standard	NM_001130103		Approved		uc001jql.3	Q5TAT6	OTTHUMG00000018394	ENST00000398978.3:c.992C>T	10.37:g.71677085C>T	ENSP00000381949:p.Ala331Val					COL13A1_uc001jqj.1_Missense_Mutation_p.A331V|COL13A1_uc001jps.1_Missense_Mutation_p.A302V|COL13A1_uc001jpt.1_Missense_Mutation_p.A290V|COL13A1_uc001jpu.1_Missense_Mutation_p.A312V|COL13A1_uc001jpv.1_Missense_Mutation_p.A331V|COL13A1_uc001jpx.1_Missense_Mutation_p.A309V|COL13A1_uc001jpw.1_Missense_Mutation_p.A278V|COL13A1_uc001jpy.1_Missense_Mutation_p.A269V|COL13A1_uc001jpz.1_Missense_Mutation_p.A274V|COL13A1_uc001jqa.1_Missense_Mutation_p.A271V|COL13A1_uc001jqc.1_Missense_Mutation_p.A331V|COL13A1_uc001jqb.1_Missense_Mutation_p.A280V|COL13A1_uc001jql.2_Missense_Mutation_p.A331V|COL13A1_uc001jqd.1_Missense_Mutation_p.A319V|COL13A1_uc001jqe.1_Missense_Mutation_p.A314V|COL13A1_uc001jqf.1_Missense_Mutation_p.A312V|COL13A1_uc001jqg.1_Missense_Mutation_p.A309V|COL13A1_uc001jqh.1_Missense_Mutation_p.A331V|COL13A1_uc001jqi.1_Missense_Mutation_p.A331V|COL13A1_uc010qjf.1_Missense_Mutation_p.A121V|COL13A1_uc001jqk.1_Missense_Mutation_p.A169V	p.A331V	NM_005203	NP_005194	Q5TAT6	CODA1_HUMAN			17	1528	+			331			Extracellular (Potential).|Triple-helical region 2 (COL2).			Missense_Mutation	SNP	ENST00000398978.3	37	c.992C>T	CCDS44419.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.872293	0.33069	.	.	ENSG00000197467	ENST00000398974;ENST00000398971;ENST00000398968;ENST00000398966;ENST00000398964;ENST00000398969;ENST00000356340;ENST00000398972;ENST00000398973;ENST00000398978;ENST00000354547;ENST00000357811;ENST00000520267;ENST00000517713;ENST00000522165;ENST00000520133	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.93247	-3.1;-1.79;-1.79;-3.1;-1.79;-3.19;-3.1;-1.79;-1.79;-3.1;-3.1;-3.1;-3.19;-3.19;-1.79;-3.19	5.17	5.17	0.71159	.	0.684284	0.13827	N	0.360012	D	0.89171	0.6639	N	0.16037	0.36	0.26124	N	0.98051	B;B;D;B;B;B;B;B;B;B;B;P;P;B;B;D;B;P;B	0.60575	0.0;0.116;0.965;0.001;0.044;0.0;0.116;0.016;0.116;0.001;0.321;0.921;0.885;0.116;0.035;0.988;0.157;0.555;0.095	B;B;P;B;B;B;B;B;B;B;B;B;P;B;B;P;B;B;B	0.52386	0.002;0.126;0.578;0.005;0.111;0.002;0.126;0.046;0.126;0.009;0.212;0.359;0.57;0.079;0.045;0.697;0.077;0.179;0.077	T	0.80504	-0.1353	10	0.26408	T	0.33	-1.1789	8.3617	0.32363	0.0:0.8593:0.0:0.1407	.	274;331;331;331;331;309;312;331;319;331;280;309;309;340;331;312;309;302;331	B9EGD2;Q5TAT6;Q5TAT6-5;Q5TAT6-6;E9PEG9;E7ES55;E7ES51;E7ES47;E7ES46;E7ES49;E7EWL8;Q5TAT6-3;Q5TAT6-4;E7EX21;Q5TAT6-7;Q5TAT6-8;Q5TAT6-2;E7ES56;G5E987	.;CODA1_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	V	319;331;312;309;302;274;331;331;331;331;309;309;274;309;312;280	ENSP00000381946:A319V;ENSP00000381943:A331V;ENSP00000381940:A312V;ENSP00000381938:A309V;ENSP00000381936:A302V;ENSP00000381941:A274V;ENSP00000348695:A331V;ENSP00000381944:A331V;ENSP00000381945:A331V;ENSP00000381949:A331V;ENSP00000346553:A309V;ENSP00000350463:A309V;ENSP00000428057:A274V;ENSP00000430061:A309V;ENSP00000428342:A312V;ENSP00000430173:A280V	ENSP00000346553:A309V	A	+	2	0	COL13A1	71347091	0.220000	0.23631	0.998000	0.56505	0.897000	0.52465	0.664000	0.25068	2.406000	0.81754	0.561000	0.74099	GCC		0.637	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048468.1		NM_005203		8	46	0	0	0	0.038147	0	8	46		
PAOX	196743	broad.mit.edu	37	10	135203207	135203207	+	Missense_Mutation	SNP	G	G	A	rs199564705		TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr10:135203207G>A	ENST00000278060.5	+	6	1431	c.1348G>A	c.(1348-1350)Gac>Aac	p.D450N	PAOX_ENST00000357296.3_Intron|PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000368535.2_3'UTR|RP11-108K14.8_ENST00000468317.2_5'Flank|PAOX_ENST00000480071.2_Intron	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	588					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|positive regulation of spermidine biosynthetic process (GO:1901307)|putrescine biosynthetic process (GO:0009446)|putrescine catabolic process (GO:0009447)|small molecule metabolic process (GO:0044281)|spermidine catabolic process (GO:0046203)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	peroxisomal matrix (GO:0005782)	N(1),N(12)-diacetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052899)|N1-acetylspermidine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052904)|N1-acetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052903)|polyamine oxidase activity (GO:0046592)|receptor binding (GO:0005102)|spermidine:oxygen oxidoreductase (3-aminopropanal-forming) activity (GO:0052902)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)	p.D450N(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		GGGCGACCTGGACCTGCTGGC	0.741													g|||	1	0.000199681	0.0	0.0	5008	,	,		12986	0.0		0.001	False		,,,				2504	0.0					uc001lmv.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1348-1350)GAC>AAC		polyamine oxidase isoform 1							27.0	29.0	29.0					10																	135203207		2201	4298	6499	SO:0001583	missense	196743				polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity	g.chr10:135203207G>A	BC032778	CCDS7682.1, CCDS7683.1, CCDS7684.1	10q26.3	2003-11-13			ENSG00000148832	ENSG00000148832			20837	protein-coding gene	gene with protein product		615853				12660232	Standard	NM_207127		Approved	PAO	uc001lmv.3	Q6QHF9	OTTHUMG00000019318	ENST00000278060.5:c.1348G>A	10.37:g.135203207G>A	ENSP00000278060:p.Asp450Asn					PAOX_uc001lmw.2_Intron|PAOX_uc001lmx.2_Intron|PAOX_uc001lmy.2_Intron|PAOX_uc001lmz.2_RNA|PAOX_uc001lna.2_RNA|PAOX_uc001lnb.2_RNA|PAOX_uc001lnc.2_RNA	p.D450N	NM_152911	NP_690875	Q6QHF9	PAOX_HUMAN		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)	6	1428	+		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	588					D3DXI6|Q5VWY0|Q6QHF5|Q6QHF6|Q6QHF7|Q6QHF8|Q6QHG0|Q6QHG1|Q6QHG2|Q6QHG3|Q6QHG4|Q6QHG5|Q6QHG6|Q86WP9|Q8N555|Q8NCX3	Missense_Mutation	SNP	ENST00000278060.5	37	c.1348G>A	CCDS7683.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	g	36	5.720925	0.96839	.	.	ENSG00000148832	ENST00000368542;ENST00000368538;ENST00000278060	D	0.93426	-3.22	4.94	4.94	0.65067	.	0.207947	0.48286	D	0.000186	D	0.96996	0.9019	M	0.90019	3.08	0.80722	D	1	D	0.76494	0.999	D	0.69142	0.962	D	0.97280	0.9917	10	0.56958	D	0.05	-48.4358	15.6923	0.77464	0.0:0.0:1.0:0.0	.	450	Q6QHF9-2	.	N	402;171;450	ENSP00000278060:D450N	ENSP00000278060:D450N	D	+	1	0	PAOX	135053197	1.000000	0.71417	0.962000	0.40283	0.908000	0.53690	8.699000	0.91316	2.570000	0.86706	0.655000	0.94253	GAC		0.741	PAOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051146.2		NM_152911		14	44	0	0	0	0.028581	0	14	44		
NELL1	4745	broad.mit.edu	37	11	21592405	21592405	+	Silent	SNP	T	T	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr11:21592405T>C	ENST00000357134.5	+	18	2228	c.2076T>C	c.(2074-2076)agT>agC	p.S692S	NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000325319.5_Silent_p.S635S|NELL1_ENST00000532434.1_Silent_p.S645S|NELL1_ENST00000298925.5_Silent_p.S720S	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	692	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)	p.S692S(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GAGTCACAAGTCAATGTTTAG	0.468																																						uc001mqe.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|large_intestine(1)	3						c.(2074-2076)AGT>AGC		nel-like 1 isoform 1 precursor							187.0	170.0	176.0					11																	21592405		2203	4300	6503	SO:0001819	synonymous_variant	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:21592405T>C	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.2076T>C	11.37:g.21592405T>C						NELL1_uc001mqf.2_Silent_p.S645S|NELL1_uc009yid.2_Silent_p.S720S|NELL1_uc010rdo.1_Silent_p.S635S|NELL1_uc010rdp.1_Silent_p.S405S|NELL1_uc001mqh.2_Silent_p.S237S	p.S692S	NM_006157	NP_006148	Q92832	NELL1_HUMAN			18	2229	+			692			VWFC 4.		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Silent	SNP	ENST00000357134.5	37	c.2076T>C	CCDS7855.1																																																																																				0.468	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1		NM_006157		38	138	0	0	0	0.11126	0	38	138		
CCDC73	493860	broad.mit.edu	37	11	32635179	32635179	+	Silent	SNP	A	A	G			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr11:32635179A>G	ENST00000335185.5	-	16	2728	c.2685T>C	c.(2683-2685)acT>acC	p.T895T	CCDC73_ENST00000534415.1_5'Flank	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	895								p.T895T(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					GAGTTTTCTCAGTTTTTTTAT	0.398																																						uc001mtv.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(2683-2685)ACT>ACC		sarcoma antigen NY-SAR-79							125.0	120.0	121.0					11																	32635179		1807	4071	5878	SO:0001819	synonymous_variant	493860							g.chr11:32635179A>G	AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.2685T>C	11.37:g.32635179A>G							p.T895T	NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN			16	2729	-	Breast(20;0.112)		895					Q6P5Q7|Q6ZMW0|Q86WE7	Silent	SNP	ENST00000335185.5	37	c.2685T>C	CCDS41630.1																																																																																				0.398	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2		NM_001008391		72	227	0	0	0	0.048971	0	72	227		
HIPK3	10114	broad.mit.edu	37	11	33360345	33360345	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr11:33360345G>A	ENST00000303296.4	+	5	1689	c.1384G>A	c.(1384-1386)Gaa>Aaa	p.E462K	HIPK3_ENST00000525975.1_Missense_Mutation_p.E462K|HIPK3_ENST00000534262.1_3'UTR|HIPK3_ENST00000379016.3_Missense_Mutation_p.E462K|HIPK3_ENST00000456517.1_Missense_Mutation_p.E462K	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	462	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E462K(1)		endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						GAAGTCTAAAGAAGCCAGAAA	0.358																																						uc001mul.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5						c.(1384-1386)GAA>AAA		homeodomain interacting protein kinase 3 isoform							143.0	132.0	136.0					11																	33360345		2202	4298	6500	SO:0001583	missense	10114				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:33360345G>A	AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"""homeodomain-interacting protein kinase 3"""			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.1384G>A	11.37:g.33360345G>A	ENSP00000304226:p.Glu462Lys					HIPK3_uc001mum.1_Missense_Mutation_p.E462K|HIPK3_uc009yjv.1_Missense_Mutation_p.E462K|HIPK3_uc009yjw.1_RNA	p.E462K	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN			5	1654	+			462			Protein kinase.		O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Missense_Mutation	SNP	ENST00000303296.4	37	c.1384G>A	CCDS7884.1	.	.	.	.	.	.	.	.	.	.	G	36	5.852245	0.97023	.	.	ENSG00000110422	ENST00000525975;ENST00000303296;ENST00000379016;ENST00000456517	T;T;T;T	0.57273	0.44;0.41;0.44;0.44	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000004	T	0.47266	0.1436	N	0.21142	0.635	0.80722	D	1	B;B	0.26147	0.013;0.143	B;B	0.31245	0.053;0.126	T	0.44682	-0.9312	10	0.87932	D	0	.	20.2469	0.98398	0.0:0.0:1.0:0.0	.	462;462	Q9H422-2;Q9H422	.;HIPK3_HUMAN	K	462	ENSP00000431710:E462K;ENSP00000304226:E462K;ENSP00000368301:E462K;ENSP00000398241:E462K	ENSP00000304226:E462K	E	+	1	0	HIPK3	33316921	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.869000	0.99810	2.781000	0.95711	0.555000	0.69702	GAA		0.358	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1		NM_005734		32	99	0	0	0	0.045705	0	32	99		
TRIM48	79097	broad.mit.edu	37	11	55036744	55036744	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr11:55036744C>T	ENST00000417545.2	+	5	691	c.605C>T	c.(604-606)cCc>cTc	p.P202L		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	186						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.P186L(1)|p.P202L(1)		endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CTGCACATGCCCCAGCCTCTG	0.502																																						uc010rid.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(604-606)CCC>CTC		tripartite motif-containing 48							39.0	33.0	35.0					11																	55036744		2090	3969	6059	SO:0001583	missense	79097					intracellular	zinc ion binding	g.chr11:55036744C>T	AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19021	protein-coding gene	gene with protein product			"""tripartite motif-containing 48"""				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.605C>T	11.37:g.55036744C>T	ENSP00000402414:p.Pro202Leu						p.P202L	NM_024114	NP_077019	Q8IWZ4	TRI48_HUMAN			5	691	+			186					Q9BUW4	Missense_Mutation	SNP	ENST00000417545.2	37	c.605C>T	CCDS7947.2	.	.	.	.	.	.	.	.	.	.	c	4.180	0.031997	0.08101	.	.	ENSG00000150244	ENST00000417545	T	0.75367	-0.93	0.596	0.596	0.17496	.	.	.	.	.	T	0.58337	0.2115	L	0.57130	1.785	0.09310	N	1	P	0.41524	0.753	B	0.28553	0.091	T	0.46638	-0.9177	8	0.12103	T	0.63	.	.	.	.	.	186	Q8IWZ4	TRI48_HUMAN	L	202	ENSP00000402414:P202L	ENSP00000402414:P202L	P	+	2	0	TRIM48	54793320	0.060000	0.20803	0.003000	0.11579	0.029000	0.11900	0.372000	0.20467	0.629000	0.30376	0.413000	0.27773	CCC		0.502	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1				35	74	0	0	0	0.086207	0	35	74		
OR5M9	390162	broad.mit.edu	37	11	56230095	56230095	+	Silent	SNP	G	G	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr11:56230095G>T	ENST00000279791.1	-	1	782	c.783C>A	c.(781-783)ccC>ccA	p.P261P		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P261P(1)|p.P261Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					ATTCCTCAGTGGGTCTCCTGA	0.493																																						uc010rjj.1		NaN																	2	Substitution - Missense(1)|Substitution - coding silent(1)		urinary_tract(1)|lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(781-783)CCC>CCA		olfactory receptor, family 5, subfamily M,							69.0	62.0	65.0					11																	56230095		2201	4296	6497	SO:0001819	synonymous_variant	390162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56230095G>T	AB065747	CCDS31531.1	11q11	2012-08-09			ENSG00000150269	ENSG00000150269		"""GPCR / Class A : Olfactory receptors"""	15294	protein-coding gene	gene with protein product							Standard	NM_001004743		Approved		uc010rjj.2	Q8NGP3	OTTHUMG00000166874	ENST00000279791.1:c.783C>A	11.37:g.56230095G>T							p.P261P	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN			1	783	-	Esophageal squamous(21;0.00448)		261			Extracellular (Potential).		Q6IEW5|Q96RB9	Silent	SNP	ENST00000279791.1	37	c.783C>A	CCDS31531.1																																																																																				0.493	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391638.1		NM_001004743		33	79	1	0	2.46105e-21	0.045705	2.80141e-21	33	79		
OR9G4	283189	broad.mit.edu	37	11	56510738	56510738	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr11:56510738A>G	ENST00000302957.3	-	1	549	c.550T>C	c.(550-552)Tgt>Cgt	p.C184R		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	184						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C184R(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TTTTTACCACAAAAATGCAGG	0.453																																						uc010rjo.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(550-552)TGT>CGT		olfactory receptor, family 9, subfamily G,							68.0	69.0	69.0					11																	56510738		2201	4296	6497	SO:0001583	missense	283189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56510738A>G	BK004400	CCDS31537.1	11q11	2012-08-09			ENSG00000172457	ENSG00000172457		"""GPCR / Class A : Olfactory receptors"""	15322	protein-coding gene	gene with protein product							Standard	NM_001005284		Approved		uc010rjo.2	Q8NGQ1	OTTHUMG00000166932	ENST00000302957.3:c.550T>C	11.37:g.56510738A>G	ENSP00000307515:p.Cys184Arg						p.C184R	NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN			1	550	-			184			Extracellular (Potential).		Q6IF62|Q96RA9	Missense_Mutation	SNP	ENST00000302957.3	37	c.550T>C	CCDS31537.1	.	.	.	.	.	.	.	.	.	.	A	14.00	2.404248	0.42613	.	.	ENSG00000172457	ENST00000302957	T	0.00237	8.47	5.07	5.07	0.68467	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43110	D	0.000613	T	0.00784	0.0026	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.61392	-0.7072	10	0.87932	D	0	-25.872	13.8217	0.63325	1.0:0.0:0.0:0.0	.	184	Q8NGQ1	OR9G4_HUMAN	R	184	ENSP00000307515:C184R	ENSP00000307515:C184R	C	-	1	0	OR9G4	56267314	1.000000	0.71417	1.000000	0.80357	0.157000	0.22087	6.766000	0.74970	2.131000	0.65755	0.523000	0.50628	TGT		0.453	OR9G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391945.1		NM_001005284		42	72	0	0	0	0.104719	0	42	72		
OR4D6	219983	broad.mit.edu	37	11	59224536	59224536	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr11:59224536T>C	ENST00000300127.2	+	1	126	c.103T>C	c.(103-105)Tat>Cat	p.Y35H		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y35H(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						CTTTGCTGTGTATGTAGCAAC	0.458																																						uc010rku.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(103-105)TAT>CAT		olfactory receptor, family 4, subfamily D,							232.0	210.0	218.0					11																	59224536		2201	4295	6496	SO:0001583	missense	219983				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59224536T>C	AB065803	CCDS31562.1	11q12.1	2012-08-09			ENSG00000166884	ENSG00000166884		"""GPCR / Class A : Olfactory receptors"""	15175	protein-coding gene	gene with protein product							Standard	NM_001004708		Approved		uc010rku.2	Q8NGJ1	OTTHUMG00000167340	ENST00000300127.2:c.103T>C	11.37:g.59224536T>C	ENSP00000300127:p.Tyr35His						p.Y35H	NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN			1	103	+			35			Helical; Name=1; (Potential).		B2RNP7|Q6IFF5|Q96R74	Missense_Mutation	SNP	ENST00000300127.2	37	c.103T>C	CCDS31562.1	.	.	.	.	.	.	.	.	.	.	T	19.92	3.916120	0.73098	.	.	ENSG00000166884	ENST00000300127	T	0.04654	3.58	5.9	5.9	0.94986	.	0.000000	0.48286	D	0.000182	T	0.15652	0.0377	M	0.91196	3.185	0.45205	D	0.998219	P	0.47409	0.895	B	0.43360	0.417	T	0.02885	-1.1098	10	0.87932	D	0	-12.6717	15.1581	0.72759	0.0:0.0:0.0:1.0	.	35	Q8NGJ1	OR4D6_HUMAN	H	35	ENSP00000300127:Y35H	ENSP00000300127:Y35H	Y	+	1	0	OR4D6	58981112	1.000000	0.71417	0.111000	0.21465	0.876000	0.50452	6.048000	0.71046	2.252000	0.74401	0.533000	0.62120	TAT		0.458	OR4D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394234.1		NM_001004708		47	123	0	0	0	0.048971	0	47	123		
SUV420H1	51111	broad.mit.edu	37	11	67942531	67942531	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr11:67942531T>C	ENST00000304363.4	-	5	850	c.497A>G	c.(496-498)tAt>tGt	p.Y166C	SUV420H1_ENST00000402185.2_Missense_Mutation_p.Y143C|SUV420H1_ENST00000401547.2_Missense_Mutation_p.Y166C|SUV420H1_ENST00000402789.1_Missense_Mutation_p.Y166C|SUV420H1_ENST00000405515.1_Missense_Mutation_p.Y166C	NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	166					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)	p.Y166C(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GTTGAGAAAATAGTGCCGTGC	0.348																																						uc001onm.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|kidney(1)	3						c.(496-498)TAT>TGT		suppressor of variegation 4-20 homolog 1 isoform							105.0	96.0	99.0					11																	67942531		2200	4294	6494	SO:0001583	missense	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67942531T>C	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.497A>G	11.37:g.67942531T>C	ENSP00000305899:p.Tyr166Cys					SUV420H1_uc009yse.1_5'UTR|SUV420H1_uc001onn.1_5'UTR|SUV420H1_uc009ysf.2_5'UTR|SUV420H1_uc001ono.1_Missense_Mutation_p.Y166C|SUV420H1_uc001onp.2_Missense_Mutation_p.Y166C|SUV420H1_uc010rqa.1_Missense_Mutation_p.Y143C|SUV420H1_uc001onq.2_Missense_Mutation_p.Y166C	p.Y166C	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN			5	753	-			166					B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	c.497A>G	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	T	17.42	3.384595	0.61845	.	.	ENSG00000110066	ENST00000304363;ENST00000401547;ENST00000405515;ENST00000402789;ENST00000402185;ENST00000453170;ENST00000458496	T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;0.94	5.1	5.1	0.69264	.	0.216865	0.42294	D	0.000731	T	0.57213	0.2038	L	0.46157	1.445	0.53688	D	0.999975	D;D;P;D	0.76494	0.968;0.993;0.867;0.999	P;D;B;D	0.70935	0.63;0.928;0.42;0.971	T	0.60662	-0.7219	10	0.87932	D	0	-27.9258	15.051	0.71867	0.0:0.0:0.0:1.0	.	143;166;166;166	B7WNX0;B5MCB3;Q4FZB7-2;Q4FZB7	.;.;.;SV421_HUMAN	C	166;166;166;166;143;95;95	ENSP00000305899:Y166C;ENSP00000385965:Y166C;ENSP00000385640:Y166C;ENSP00000385005:Y166C;ENSP00000384724:Y143C;ENSP00000406377:Y95C;ENSP00000403233:Y95C	ENSP00000305899:Y166C	Y	-	2	0	SUV420H1	67699107	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.104000	0.71498	2.153000	0.67306	0.477000	0.44152	TAT		0.348	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1		NM_017635		23	48	0	0	0	0.099896	0	23	48		
ARAP1	116985	broad.mit.edu	37	11	72412744	72412744	+	Missense_Mutation	SNP	T	T	C	rs376083808		TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr11:72412744T>C	ENST00000393609.3	-	16	2454	c.2252A>G	c.(2251-2253)tAc>tGc	p.Y751C	ARAP1_ENST00000455638.2_Missense_Mutation_p.Y751C|ARAP1_ENST00000393605.3_Missense_Mutation_p.Y511C|ARAP1_ENST00000359373.5_Missense_Mutation_p.Y751C|ARAP1_ENST00000495878.1_5'Flank|ARAP1_ENST00000426523.1_Missense_Mutation_p.Y506C|ARAP1_ENST00000334211.8_Missense_Mutation_p.Y506C|ARAP1_ENST00000429686.1_Missense_Mutation_p.Y445C|ARAP1-AS2_ENST00000500163.2_RNA	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	751	PH 3. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.Y751C(1)|p.Y511C(1)		cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						GGCAGTCTTGTAGAGGAAGCC	0.622																																					Ovarian(102;1198 1520 13195 17913 37529)	uc001osu.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	skin(1)	1						c.(2251-2253)TAC>TGC		ArfGAP with RhoGAP domain, ankyrin repeat and PH		T	CYS/TYR,CYS/TYR,CYS/TYR	0,4400		0,0,2200	150.0	157.0	155.0		2252,1334,1517	4.3	1.0	11		155	1,8585	1.2+/-3.3	0,1,4292	no	missense,missense,missense	ARAP1	NM_001040118.2,NM_001135190.1,NM_015242.4	194,194,194	0,1,6492	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	751/1451,445/1134,506/1206	72412744	1,12985	2200	4293	6493	SO:0001583	missense	116985				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	g.chr11:72412744T>C	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.2252A>G	11.37:g.72412744T>C	ENSP00000377233:p.Tyr751Cys					ARAP1_uc001osv.2_Missense_Mutation_p.Y751C|ARAP1_uc001osr.2_Missense_Mutation_p.Y511C|ARAP1_uc001oss.2_Missense_Mutation_p.Y506C|ARAP1_uc009yth.2_Missense_Mutation_p.Y445C|ARAP1_uc010rre.1_Missense_Mutation_p.Y506C|ARAP1_uc001osw.1_Missense_Mutation_p.Y39C	p.Y751C	NM_001040118	NP_001035207	Q96P48	ARAP1_HUMAN			16	2441	-			751			PH 3.		A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Missense_Mutation	SNP	ENST00000393609.3	37	c.2252A>G	CCDS41687.1	.	.	.	.	.	.	.	.	.	.	T	17.10	3.302759	0.60195	0.0	1.16E-4	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686;ENST00000427971;ENST00000452383;ENST00000340247	T;T;T;T;T;T;T;T;T	0.13778	2.56;2.56;2.56;2.56;2.56;2.56;2.56;2.56;2.56	5.57	4.33	0.51752	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.195721	0.44688	D	0.000439	T	0.32436	0.0829	M	0.64997	1.995	0.35147	D	0.769393	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.79108	0.992;0.992;0.974;0.992;0.978	T	0.44817	-0.9303	10	0.87932	D	0	.	11.9958	0.53201	0.1385:0.0:0.0:0.8614	.	506;445;751;751;511	E7EU13;B2RTS2;Q96P48-3;Q96P48;Q96P48-1	.;.;.;ARAP1_HUMAN;.	C	751;751;511;506;751;506;445;39;39;540	ENSP00000352332:Y751C;ENSP00000390461:Y751C;ENSP00000377230:Y511C;ENSP00000335506:Y506C;ENSP00000377233:Y751C;ENSP00000392264:Y506C;ENSP00000403127:Y445C;ENSP00000411452:Y39C;ENSP00000399118:Y39C	ENSP00000335506:Y506C	Y	-	2	0	ARAP1	72090392	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	1.618000	0.36954	2.114000	0.64651	0.455000	0.32223	TAC		0.622	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1		NM_001040118		48	143	0	0	0	0.048971	0	48	143		
CNTN5	53942	broad.mit.edu	37	11	99941209	99941209	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr11:99941209C>A	ENST00000524871.1	+	11	1506	c.1216C>A	c.(1216-1218)Cct>Act	p.P406T	CNTN5_ENST00000528682.1_Missense_Mutation_p.P406T|CNTN5_ENST00000279463.3_Missense_Mutation_p.P406T|CNTN5_ENST00000418526.2_Missense_Mutation_p.P332T|CNTN5_ENST00000527185.1_Missense_Mutation_p.P406T	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	406	Ig-like C2-type 4.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.P406T(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CAGTGGGAGCCCTCTCCGATG	0.463																																						uc001pga.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	skin(3)|ovary(2)|pancreas(2)|breast(1)	8						c.(1216-1218)CCT>ACT		contactin 5 isoform long							85.0	83.0	84.0					11																	99941209		1882	4108	5990	SO:0001583	missense	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:99941209C>A	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.1216C>A	11.37:g.99941209C>A	ENSP00000435637:p.Pro406Thr					CNTN5_uc009ywv.1_Missense_Mutation_p.P406T|CNTN5_uc001pfz.2_Missense_Mutation_p.P406T|CNTN5_uc001pgb.2_Missense_Mutation_p.P332T	p.P406T	NM_014361	NP_055176	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	11	1555	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	406			Ig-like C2-type 4.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	c.1216C>A	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.525912	0.44969	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06	5.97	5.03	0.67393	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.160977	0.56097	D	0.000035	T	0.49762	0.1576	N	0.10972	0.075	0.31643	N	0.647731	B;B;B	0.26809	0.16;0.008;0.16	B;B;B	0.36766	0.232;0.018;0.186	T	0.57069	-0.7874	10	0.40728	T	0.16	.	16.3523	0.83215	0.0:0.8686:0.1314:0.0	.	406;332;406	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	T	406;406;406;332;406	ENSP00000433575:P406T;ENSP00000436185:P406T;ENSP00000435637:P406T;ENSP00000393229:P332T;ENSP00000279463:P406T	ENSP00000279463:P406T	P	+	1	0	CNTN5	99446419	0.984000	0.35163	1.000000	0.80357	0.987000	0.75469	2.441000	0.44864	2.834000	0.97654	0.650000	0.86243	CCT		0.463	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2		NM_014361		16	18	1	0	3.45872e-05	0.028581	3.55849e-05	16	18		
RAD52	5893	broad.mit.edu	37	12	1034684	1034684	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr12:1034684C>A	ENST00000358495.3	-	7	613	c.475G>T	c.(475-477)Ggg>Tgg	p.G159W	RAD52_ENST00000539046.1_Missense_Mutation_p.G82W|RAD52_ENST00000536177.1_Missense_Mutation_p.G159W|RAD52_ENST00000430095.2_Missense_Mutation_p.G159W|RAD52_ENST00000545564.1_Missense_Mutation_p.W209L	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	159					DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)	p.G159W(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			AGTGCATTCCCAAAACTCCTA	0.388								Homologous recombination																														uc001qis.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(475-477)GGG>TGG	Homologous_recombination	RAD52 homolog							135.0	121.0	126.0					12																	1034684		2203	4300	6503	SO:0001583	missense	5893				DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding	g.chr12:1034684C>A		CCDS8507.2	12p13-p12.2	2008-08-05	2001-11-28		ENSG00000002016	ENSG00000002016			9824	protein-coding gene	gene with protein product		600392	"""RAD52 (S. cerevisiae) homolog"""			7774919, 18313388	Standard	XM_005253721		Approved		uc001qis.1	P43351	OTTHUMG00000090361	ENST00000358495.3:c.475G>T	12.37:g.1034684C>A	ENSP00000351284:p.Gly159Trp					RAD52_uc001qit.1_RNA|RAD52_uc010sdt.1_Missense_Mutation_p.G82W|RAD52_uc001qiu.1_Missense_Mutation_p.G159W|RAD52_uc001qiv.1_RNA|RAD52_uc001qiw.1_RNA|RAD52_uc010sdu.1_Missense_Mutation_p.G159W|RAD52_uc001qix.1_Missense_Mutation_p.W209L	p.G159W	NM_134424	NP_602296	P43351	RAD52_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)		7	589	-	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		159					Q13205|Q9Y5T7|Q9Y5T8|Q9Y5T9	Missense_Mutation	SNP	ENST00000358495.3	37	c.475G>T	CCDS8507.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.35|15.35	2.807702|2.807702	0.50421|0.50421	.|.	.|.	ENSG00000002016|ENSG00000002016	ENST00000358495;ENST00000430095;ENST00000539046;ENST00000536177|ENST00000545564	T;T;T;T|T	0.37411|0.51071	1.2;1.2;1.2;1.2|0.72	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	0.047168|.	0.85682|.	D|.	0.000000|.	T|T	0.59169|0.59169	0.2174|0.2174	M|M	0.91354|0.91354	3.2|3.2	0.41720|0.41720	D|D	0.989502|0.989502	D;D|P	0.89917|0.43094	1.0;1.0|0.799	D;D|B	0.97110|0.37239	1.0;1.0|0.244	T|T	0.72520|0.72520	-0.4268|-0.4268	10|9	0.87932|0.62326	D|D	0|0.03	-8.4771|-8.4771	19.0634|19.0634	0.93101|0.93101	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	159;159|209	F5GX32;P43351|Q9Y5T7	.;RAD52_HUMAN|.	W|L	159;159;82;159|209	ENSP00000351284:G159W;ENSP00000387901:G159W;ENSP00000445245:G82W;ENSP00000440486:G159W|ENSP00000440268:W209L	ENSP00000351284:G159W|ENSP00000440268:W209L	G|W	-|-	1|2	0|0	RAD52|RAD52	904945|904945	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	7.051000|7.051000	0.76627|0.76627	2.668000|2.668000	0.90789|0.90789	0.650000|0.650000	0.86243|0.86243	GGG|TGG		0.388	RAD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206733.2		NM_134424		18	96	1	0	5.35267e-07	0.043863	5.56054e-07	18	96		
SLC2A3	6515	broad.mit.edu	37	12	8083900	8083900	+	Silent	SNP	G	G	T	rs138143062		TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr12:8083900G>T	ENST00000075120.7	-	4	691	c.451C>A	c.(451-453)Cgg>Agg	p.R151R		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	151					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)	p.R151R(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		AAGGCACCCCGCAGGGCAGTA	0.507																																					Colon(96;424 1461 14416 20933 23688)	uc001qtr.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)|pancreas(1)	4						c.(451-453)CGG>AGG		solute carrier family 2 (facilitated glucose		G		2,4404	4.2+/-10.8	0,2,2201	81.0	76.0	78.0		451	3.5	1.0	12	dbSNP_134	78	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC2A3	NM_006931.2		0,3,6500	TT,TG,GG		0.0116,0.0454,0.0231		151/497	8083900	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	6515				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr12:8083900G>T	M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804		"""Solute carriers"""	11007	protein-coding gene	gene with protein product		138170		GLUT3			Standard	NM_006931		Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.451C>A	12.37:g.8083900G>T						SLC2A3_uc001qts.2_Silent_p.R151R	p.R151R	NM_006931	NP_008862	P11169	GTR3_HUMAN		Kidney(36;0.0866)	4	713	-			151			Cytoplasmic (Potential).		B2R606|D3DUU6|Q6I9U2|Q9UG15	Silent	SNP	ENST00000075120.7	37	c.451C>A	CCDS8586.1																																																																																				0.507	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257914.1		NM_006931		41	93	1	0	2.26627e-22	0.09836	2.59349e-22	41	93		
NELL2	4753	broad.mit.edu	37	12	45269642	45269642	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr12:45269642C>T	ENST00000429094.2	-	1	515	c.11G>A	c.(10-12)cGg>cAg	p.R4Q	NELL2_ENST00000548826.1_Missense_Mutation_p.R4Q|NELL2_ENST00000395487.2_5'Flank|NELL2_ENST00000333837.4_Missense_Mutation_p.R27Q|NELL2_ENST00000551601.1_5'UTR|NELL2_ENST00000549027.1_5'UTR|NELL2_ENST00000452445.2_Missense_Mutation_p.R4Q|NELL2_ENST00000437801.2_Missense_Mutation_p.R54Q	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	4						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.R4Q(1)|p.R54Q(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CAGTAAGACCCGAGACTCCAT	0.517																																						uc001rog.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						c.(10-12)CGG>CAG		NEL-like protein 2 isoform b precursor							93.0	99.0	97.0					12																	45269642		2203	4300	6503	SO:0001583	missense	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:45269642C>T	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.11G>A	12.37:g.45269642C>T	ENSP00000390680:p.Arg4Gln					NELL2_uc001rof.3_5'Flank|NELL2_uc001roh.2_Missense_Mutation_p.R4Q|NELL2_uc009zkd.2_5'UTR|NELL2_uc010skz.1_Missense_Mutation_p.R54Q|NELL2_uc010sla.1_Missense_Mutation_p.R27Q|NELL2_uc001roi.1_Missense_Mutation_p.R4Q|NELL2_uc010slb.1_5'UTR|NELL2_uc001roj.2_Missense_Mutation_p.R4Q	p.R4Q	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	1	606	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	4					B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	37	c.11G>A	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.761578	0.49468	.	.	ENSG00000184613	ENST00000429094;ENST00000452445;ENST00000333837;ENST00000437801;ENST00000552993;ENST00000548826;ENST00000551949	D;D;D;D;T;T;T	0.82526	-1.55;-1.55;-1.5;-1.62;2.68;1.49;-1.27	4.95	1.53	0.23141	.	0.554869	0.18174	N	0.149358	T	0.54695	0.1874	N	0.08118	0	0.80722	D	1	B;P;B;B	0.39250	0.305;0.665;0.274;0.305	B;B;B;B	0.23574	0.031;0.047;0.031;0.031	T	0.48725	-0.9010	10	0.17369	T	0.5	-0.3878	6.3421	0.21328	0.3292:0.4304:0.2404:0.0	.	27;54;4;4	B7Z2U7;B7Z9U3;B3KTI3;Q99435	.;.;.;NELL2_HUMAN	Q	4;4;27;54;4;4;4	ENSP00000390680:R4Q;ENSP00000394612:R4Q;ENSP00000327988:R27Q;ENSP00000416341:R54Q;ENSP00000447085:R4Q;ENSP00000448635:R4Q;ENSP00000446961:R4Q	ENSP00000327988:R27Q	R	-	2	0	NELL2	43555909	0.650000	0.27331	0.996000	0.52242	0.944000	0.59088	0.571000	0.23669	0.528000	0.28580	0.650000	0.86243	CGG		0.517	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1		NM_006159		18	99	0	0	0	0.043863	0	18	99		
LRP1	4035	broad.mit.edu	37	12	57600372	57600372	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr12:57600372G>A	ENST00000243077.3	+	76	12173	c.11707G>A	c.(11707-11709)Gat>Aat	p.D3903N		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3903					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.D3903N(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGTCCGCATTGATGCTATGGA	0.597																																						uc001snd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(11707-11709)GAT>AAT		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						220.0	137.0	165.0					12																	57600372		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57600372G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.11707G>A	12.37:g.57600372G>A	ENSP00000243077:p.Asp3903Asn						p.D3903N	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	76	12173	+			3903			Extracellular (Potential).		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.11707G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852952	0.71719	.	.	ENSG00000123384	ENST00000243077	D	0.90844	-2.74	4.96	4.96	0.65561	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.64402	D	0.000001	D	0.86326	0.5906	L	0.38175	1.15	0.37586	D	0.920015	P	0.40250	0.709	B	0.40410	0.328	D	0.84915	0.0850	10	0.13108	T	0.6	.	17.4964	0.87718	0.0:0.0:1.0:0.0	.	3903	Q07954	LRP1_HUMAN	N	3903	ENSP00000243077:D3903N	ENSP00000243077:D3903N	D	+	1	0	LRP1	55886639	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.448000	0.97600	2.735000	0.93741	0.655000	0.94253	GAT		0.597	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2		NM_002332		35	45	0	0	0	0.059317	0	35	45		
CCER1	196477	broad.mit.edu	37	12	91347836	91347836	+	Silent	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr12:91347836G>A	ENST00000358859.2	-	1	1117	c.684C>T	c.(682-684)gcC>gcT	p.A228A	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	228								p.A228A(1)									CGGAGGATCTGGCTGGGGAGG	0.627																																						uc001tbj.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(1)|pancreas(1)	2						c.(682-684)GCC>GCT		hypothetical protein LOC196477							106.0	124.0	118.0					12																	91347836		2203	4300	6503	SO:0001819	synonymous_variant	196477							g.chr12:91347836G>A	BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 12"""	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.684C>T	12.37:g.91347836G>A							p.A228A	NM_152638	NP_689851	Q8TC90	CL012_HUMAN			1	1118	-			228					Q8TC47	Silent	SNP	ENST00000358859.2	37	c.684C>T	CCDS9036.1																																																																																				0.627	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2		NM_152638		94	152	0	0	0	0.048971	0	94	152		
PWP1	11137	broad.mit.edu	37	12	108082471	108082471	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr12:108082471C>T	ENST00000412830.3	+	3	379	c.211C>T	c.(211-213)Cgc>Tgc	p.R71C	PWP1_ENST00000541166.1_Missense_Mutation_p.R9C	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	71					transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.R71C(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						CACCCAGGCACGCCCAAGAGA	0.517																																						uc001tmo.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(211-213)CGC>TGC		periodic tryptophan protein 1							127.0	119.0	122.0					12																	108082471		2203	4300	6503	SO:0001583	missense	11137				transcription, DNA-dependent	nucleus		g.chr12:108082471C>T	BC000067	CCDS9114.1	12q23.3	2013-06-10				ENSG00000136045		"""WD repeat domain containing"""	17015	protein-coding gene	gene with protein product	"""endonuclein"""					7828893, 11850830	Standard	NM_007062		Approved	IEF-SSP-9502	uc001tmo.1	Q13610	OTTHUMG00000169913	ENST00000412830.3:c.211C>T	12.37:g.108082471C>T	ENSP00000387365:p.Arg71Cys					PWP1_uc001tmn.1_RNA|PWP1_uc009zuu.1_Missense_Mutation_p.R71C	p.R71C	NM_007062	NP_008993	Q13610	PWP1_HUMAN			3	298	+			71					A8K3R6|Q7Z3X9	Missense_Mutation	SNP	ENST00000412830.3	37	c.211C>T	CCDS9114.1	.	.	.	.	.	.	.	.	.	.	.	13.05	2.120282	0.37436	.	.	ENSG00000136045	ENST00000412830;ENST00000547995;ENST00000258531;ENST00000546068;ENST00000538327;ENST00000541166	T;T	0.70986	-0.5;-0.53	5.69	3.72	0.42706	.	0.943772	0.08976	N	0.866472	T	0.47192	0.1432	N	0.14661	0.345	0.09310	N	1	P	0.40931	0.733	B	0.31547	0.132	T	0.41251	-0.9519	10	0.59425	D	0.04	.	4.1737	0.10341	0.1527:0.4813:0.2842:0.0819	.	71	Q13610	PWP1_HUMAN	C	71;9;71;71;71;9	ENSP00000387365:R71C;ENSP00000445249:R9C	ENSP00000258531:R71C	R	+	1	0	PWP1	106606601	0.001000	0.12720	0.032000	0.17829	0.926000	0.56050	1.070000	0.30653	1.354000	0.45846	0.478000	0.44815	CGC		0.517	PWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406539.1		NM_007062		35	36	0	0	0	0.050027	0	35	36		
CAMKK2	10645	broad.mit.edu	37	12	121706440	121706440	+	Splice_Site	SNP	C	C	T	rs199704325		TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr12:121706440C>T	ENST00000324774.5	-	5	1454		c.e5+1		CAMKK2_ENST00000412367.2_Splice_Site|CAMKK2_ENST00000538733.1_Splice_Site|CAMKK2_ENST00000337174.3_Splice_Site|CAMKK2_ENST00000535524.1_Intron|CAMKK2_ENST00000392474.2_Splice_Site|CAMKK2_ENST00000404169.3_Splice_Site|CAMKK2_ENST00000392473.2_Splice_Site|CAMKK2_ENST00000402834.4_Splice_Site|CAMKK2_ENST00000347034.2_Splice_Site|CAMKK2_ENST00000446440.2_Splice_Site	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta						calcium-mediated signaling (GO:0019722)|MAPK cascade (GO:0000165)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein tyrosine kinase activity (GO:0004713)	p.?(2)		endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GCCAAACTCACGTGGAAAGCC	0.557																																						uc001tzu.2		NaN																	2	Unknown(2)		urinary_tract(2)	lung(1)|large_intestine(1)|stomach(1)	3						c.e5+1		calcium/calmodulin-dependent protein kinase							147.0	142.0	144.0					12																	121706440		2203	4300	6503	SO:0001630	splice_region_variant	10645				calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity	g.chr12:121706440C>T	AF101264	CCDS9216.1, CCDS9217.1, CCDS9218.1, CCDS9219.1, CCDS44999.1, CCDS53837.1, CCDS58283.1	12q24.2	2002-08-13				ENSG00000110931			1470	protein-coding gene	gene with protein product		615002				9662074	Standard	NM_172226		Approved	CAMKK, KIAA0787, CAMKKB, MGC15254	uc001tzu.3	Q96RR4		ENST00000324774.5:c.625+1G>A	12.37:g.121706440C>T						CAMKK2_uc001tzt.2_Splice_Site_p.R209_splice|CAMKK2_uc001tzv.2_Splice_Site_p.R209_splice|CAMKK2_uc001tzw.2_Splice_Site_p.R209_splice|CAMKK2_uc001tzx.2_Splice_Site_p.R209_splice|CAMKK2_uc001tzy.2_Splice_Site_p.R209_splice|CAMKK2_uc001uaa.1_Splice_Site_p.R209_splice|CAMKK2_uc001uab.2_Splice_Site_p.R209_splice|CAMKK2_uc001uac.2_Splice_Site_p.R209_splice	p.R209_splice	NM_006549	NP_006540	Q96RR4	KKCC2_HUMAN			5	749	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)							A8K7Q7|O94883|Q8IUG2|Q8IUG3|Q8N3I4|Q8WY03|Q8WY04|Q8WY05|Q8WY06|Q96RP1|Q96RP2|Q96RR3|Q9BWE9|Q9UER3|Q9UES2|Q9Y5N2	Splice_Site	SNP	ENST00000324774.5	37	c.625_splice	CCDS9216.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.911322	0.72983	.	.	ENSG00000110931	ENST00000392474;ENST00000347034;ENST00000538733;ENST00000337174;ENST00000324774;ENST00000412367;ENST00000404169;ENST00000360452;ENST00000446440;ENST00000392473	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3098	0.87206	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CAMKK2	120190823	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	7.033000	0.76504	2.522000	0.85027	0.558000	0.71614	.		0.557	CAMKK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402563.1		NM_172226	Intron	70	219	0	0	0	0.048971	0	70	219		
SACS	26278	broad.mit.edu	37	13	23909550	23909550	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr13:23909550T>C	ENST00000382292.3	-	9	8738	c.8465A>G	c.(8464-8466)aAt>aGt	p.N2822S	SACS_ENST00000382298.3_Missense_Mutation_p.N2822S|SACS_ENST00000402364.1_Missense_Mutation_p.N2072S			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2822					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.N2822S(1)|p.N2675S(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GCCTGATCTATTACAAATTAG	0.388																																						uc001uon.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(8464-8466)AAT>AGT		sacsin							94.0	88.0	90.0					13																	23909550		2203	4299	6502	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23909550T>C	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.8465A>G	13.37:g.23909550T>C	ENSP00000371729:p.Asn2822Ser					SACS_uc001uoo.2_Missense_Mutation_p.N2675S|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.N2822S	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	9054	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	2822					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.8465A>G	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	T	21.4	4.145432	0.77888	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88431	-2.12;-2.38;-2.12	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.84320	0.5446	N	0.13235	0.315	0.43890	D	0.996516	D	0.54207	0.965	P	0.50314	0.637	T	0.82938	-0.0209	10	0.20519	T	0.43	.	15.5962	0.76583	0.0:0.0:0.0:1.0	.	2822	Q9NZJ4	SACS_HUMAN	S	2822;2072;2822	ENSP00000371729:N2822S;ENSP00000385844:N2072S;ENSP00000371735:N2822S	ENSP00000371729:N2822S	N	-	2	0	SACS	22807550	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.698000	0.84413	2.087000	0.62958	0.454000	0.30748	AAT		0.388	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3		NM_014363		22	154	0	0	0	0.069288	0	22	154		
ATP8A2	51761	broad.mit.edu	37	13	26273338	26273338	+	Missense_Mutation	SNP	T	T	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr13:26273338T>A	ENST00000381655.2	+	25	2381	c.2239T>A	c.(2239-2241)Tgc>Agc	p.C747S	ATP8A2_ENST00000255283.8_Missense_Mutation_p.C707S|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	707					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.C747S(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TACTCAGCACTGCACTGACCT	0.453																																						uc001uqk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(2239-2241)TGC>AGC		ATPase, aminophospholipid transporter-like,							83.0	78.0	80.0					13																	26273338		1964	4136	6100	SO:0001583	missense	51761				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:26273338T>A	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.2239T>A	13.37:g.26273338T>A	ENSP00000371070:p.Cys747Ser					ATP8A2_uc010tdi.1_Missense_Mutation_p.C707S|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.C297S	p.C747S	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	25	2381	+		Breast(139;0.0201)|Lung SC(185;0.0225)	707			Cytoplasmic (Potential).		Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	c.2239T>A	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	T	17.38	3.374568	0.61735	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	T;T	0.62364	0.46;0.03	5.88	5.88	0.94601	HAD-like domain (1);	0.000000	0.85682	D	0.000000	T	0.54175	0.1842	L	0.34521	1.04	0.80722	D	1	B;B;B	0.29341	0.242;0.109;0.242	B;B;B	0.29353	0.101;0.039;0.101	T	0.53844	-0.8381	10	0.49607	T	0.09	.	16.2824	0.82697	0.0:0.0:0.0:1.0	.	707;527;707	B7Z880;F5GZN5;Q9NTI2	.;.;AT8A2_HUMAN	S	747;707;527	ENSP00000371070:C747S;ENSP00000255283:C707S	ENSP00000255283:C707S	C	+	1	0	ATP8A2	25171338	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.035000	0.88872	2.250000	0.74265	0.533000	0.62120	TGC		0.453	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2		NM_016529		49	73	0	0	0	0.048971	0	49	73		
SLC7A1	6541	broad.mit.edu	37	13	30110084	30110084	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr13:30110084C>T	ENST00000380752.5	-	3	628	c.242G>A	c.(241-243)gGc>gAc	p.G81D		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	81					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)	p.G81D(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	ATAGCACAGGCCAGCCAGCAC	0.617																																						uc001uso.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(241-243)GGC>GAC		solute carrier family 7 (cationic amino acid	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						69.0	57.0	61.0					13																	30110084		2203	4300	6503	SO:0001583	missense	6541				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity	g.chr13:30110084C>T	AF078107	CCDS9333.1	13q12.3	2013-05-22			ENSG00000139514	ENSG00000139514		"""Solute carriers"""	11057	protein-coding gene	gene with protein product	"""ecotropic retroviral receptor"", ""amino acid transporter, cationic 1"""	104615		ERR, ATRC1		1348489	Standard	NM_003045		Approved	CAT-1, HCAT1, REC1L	uc001uso.3	P30825	OTTHUMG00000016658	ENST00000380752.5:c.242G>A	13.37:g.30110084C>T	ENSP00000370128:p.Gly81Asp						p.G81D	NM_003045	NP_003036	P30825	CTR1_HUMAN		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	3	629	-		Lung SC(185;0.0257)|Breast(139;0.238)	81			Helical; (Potential).		Q5JR50	Missense_Mutation	SNP	ENST00000380752.5	37	c.242G>A	CCDS9333.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.966375	0.92855	.	.	ENSG00000139514	ENST00000380752;ENST00000450494	D;D	0.90504	-2.68;-2.68	4.81	4.81	0.61882	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.97464	0.9170	H	0.98701	4.305	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99160	1.0861	10	0.87932	D	0	.	17.0366	0.86478	0.0:1.0:0.0:0.0	.	81	P30825	CTR1_HUMAN	D	81	ENSP00000370128:G81D;ENSP00000390092:G81D	ENSP00000370128:G81D	G	-	2	0	SLC7A1	29008084	1.000000	0.71417	0.997000	0.53966	0.951000	0.60555	7.510000	0.81708	2.490000	0.84030	0.655000	0.94253	GGC		0.617	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044337.2		NM_003045		14	57	0	0	0	0.038395	0	14	57		
HTR2A	3356	broad.mit.edu	37	13	47469988	47469988	+	Silent	SNP	T	T	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr13:47469988T>C	ENST00000378688.4	-	1	185	c.54A>G	c.(52-54)ctA>ctG	p.L18L	HTR2A_ENST00000543956.1_Intron|HTR2A_ENST00000542664.1_Silent_p.L18L			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	18					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.L18L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TTAATTGCATTAGGGAGTTCG	0.403																																						uc001vbq.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(52-54)CTA>CTG		5-hydroxytryptamine receptor 2A isoform 1	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						98.0	96.0	97.0					13																	47469988		2203	4300	6503	SO:0001819	synonymous_variant	3356				ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity	g.chr13:47469988T>C	X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5293	protein-coding gene	gene with protein product		182135	"""5-hydroxytryptamine (serotonin) receptor 2A"""	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.54A>G	13.37:g.47469988T>C						HTR2A_uc001vbr.2_Intron|HTR2A_uc010acr.2_Silent_p.L18L	p.L18L	NM_000621	NP_000612	P28223	5HT2A_HUMAN		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	1	188	-		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)	18			Extracellular (By similarity).		B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Silent	SNP	ENST00000378688.4	37	c.54A>G	CCDS9405.1																																																																																				0.403	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044835.3		NM_000621		17	92	0	0	0	0.043863	0	17	92		
RB1	5925	broad.mit.edu	37	13	48947629	48947629	+	Splice_Site	SNP	G	G	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr13:48947629G>C	ENST00000267163.4	+	12	1353		c.e12+1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.?(23)|p.0?(15)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CTATTTTAACGTAAGCCATAT	0.279		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.2		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	D|Mis|N|F|S	retinoblastoma gene			"""L, E, M, O"""		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung		38	Unknown(23)|Whole gene deletion(15)	p.?(14)	bone(12)|eye(6)|urinary_tract(5)|breast(5)|endometrium(3)|central_nervous_system(2)|lung(2)|adrenal_gland(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358	GRCh37	CS890133|CS982341	RB1	S		c.e12+1		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						80.0	87.0	84.0					13																	48947629		2202	4287	6489	SO:0001630	splice_region_variant	5925	Hereditary_Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48947629G>C	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1215+1G>C	13.37:g.48947629G>C		TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				RB1_uc010act.1_Splice_Site_p.N106_splice	p.N405_splice	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	12	1381	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)						A8K5E3|P78499|Q5VW46|Q8IZL4	Splice_Site	SNP	ENST00000267163.4	37	c.1215_splice	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561140	0.65538	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0805	0.93179	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RB1	47845630	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	7.247000	0.78257	2.510000	0.84645	0.563000	0.77884	.		0.279	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			Intron	24	189	0	0	0	0.0918	0	24	189		
UTP14C	9724	broad.mit.edu	37	13	52604079	52604079	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr13:52604079G>A	ENST00000521776.2	+	2	1872	c.1139G>A	c.(1138-1140)aGt>aAt	p.S380N		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	380					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|rRNA processing (GO:0006364)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)		p.S380N(1)		breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		AGCTGCACCAGTGACACCAAA	0.537																																						uc001vgb.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|large_intestine(1)|breast(1)	5						c.(1138-1140)AGT>AAT		UTP14, U3 small nucleolar ribonucleoprotein,							99.0	86.0	91.0					13																	52604079		2203	4300	6503	SO:0001583	missense	9724				cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome		g.chr13:52604079G>A	D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797			20321	protein-coding gene	gene with protein product		608969	"""KIAA0266"""	KIAA0266		9039502, 16354793	Standard	NM_021645		Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.1139G>A	13.37:g.52604079G>A	ENSP00000428619:p.Ser380Asn					UTP14C_uc001vgc.2_RNA	p.S380N	NM_021645	NP_067677	Q5TAP6	UT14C_HUMAN		GBM - Glioblastoma multiforme(99;2.3e-08)	2	1674	+		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	380					Q5FWG3|Q92555	Missense_Mutation	SNP	ENST00000521776.2	37	c.1139G>A	CCDS31978.1	.	.	.	.	.	.	.	.	.	.	G	5.108	0.205546	0.09704	.	.	ENSG00000253797	ENST00000521776	T	0.17213	2.29	2.58	-0.896	0.10557	.	0.992574	0.08213	N	0.980410	T	0.15998	0.0385	M	0.66939	2.045	0.09310	N	1	B	0.20459	0.045	B	0.23150	0.044	T	0.39187	-0.9626	9	.	.	.	3.4891	2.2779	0.04107	0.1318:0.1854:0.4952:0.1876	.	380	Q5TAP6	UT14C_HUMAN	N	380	ENSP00000428619:S380N	.	S	+	2	0	UTP14C	51502080	0.000000	0.05858	0.003000	0.11579	0.072000	0.16883	-0.114000	0.10757	-0.003000	0.14444	0.448000	0.29417	AGT		0.537	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045049.2		NM_021645		40	61	0	0	0	0.080422	0	40	61		
TDRD3	81550	broad.mit.edu	37	13	61041463	61041463	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr13:61041463G>T	ENST00000196169.3	+	5	954	c.166G>T	c.(166-168)Gtt>Ttt	p.V56F	TDRD3_ENST00000377881.2_Missense_Mutation_p.V56F|TDRD3_ENST00000535286.1_Missense_Mutation_p.V149F|TDRD3_ENST00000377894.2_Missense_Mutation_p.V56F	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	56					chromatin modification (GO:0016568)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)	p.V56F(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		TAACACCACAGTTCTTGGTGG	0.383																																					Colon(36;164 906 35820 50723)	uc001via.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	upper_aerodigestive_tract(1)|skin(1)	2						c.(166-168)GTT>TTT		tudor domain containing 3 isoform 2							142.0	131.0	135.0					13																	61041463		2203	4300	6503	SO:0001583	missense	81550				chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity	g.chr13:61041463G>T	AK023578	CCDS9441.1, CCDS53872.1	13q14.3	2013-01-23			ENSG00000083544	ENSG00000083544		"""Tudor domain containing"""	20612	protein-coding gene	gene with protein product		614392					Standard	NM_030794		Approved	FLJ21007	uc010aeg.3	Q9H7E2	OTTHUMG00000017007	ENST00000196169.3:c.166G>T	13.37:g.61041463G>T	ENSP00000196169:p.Val56Phe					TDRD3_uc010aef.2_5'UTR|TDRD3_uc001vhz.3_Missense_Mutation_p.V56F|TDRD3_uc010aeg.2_Missense_Mutation_p.V149F|TDRD3_uc001vib.3_Missense_Mutation_p.V56F	p.V56F	NM_030794	NP_110421	Q9H7E2	TDRD3_HUMAN		GBM - Glioblastoma multiforme(99;0.000291)	5	954	+		Prostate(109;0.173)|Breast(118;0.174)	56					B2MWP9|Q53XA6|Q6P992	Missense_Mutation	SNP	ENST00000196169.3	37	c.166G>T	CCDS9441.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.995905	0.54147	.	.	ENSG00000083544	ENST00000196169;ENST00000377881;ENST00000377894;ENST00000535286;ENST00000377882	D;D;D;D	0.96685	-4.09;-4.09;-4.09;-3.92	5.56	4.72	0.59763	.	0.185300	0.46758	D	0.000261	D	0.95601	0.8570	M	0.69185	2.1	0.80722	D	1	P;P;B	0.42203	0.544;0.773;0.145	B;B;B	0.43701	0.297;0.428;0.124	D	0.94588	0.7785	10	0.41790	T	0.15	-10.9308	14.3909	0.66978	0.0711:0.0:0.9289:0.0	.	149;56;56	Q9H7E2-3;Q9H7E2-2;Q9H7E2	.;.;TDRD3_HUMAN	F	56;56;56;149;56	ENSP00000196169:V56F;ENSP00000367113:V56F;ENSP00000367126:V56F;ENSP00000440190:V149F	ENSP00000196169:V56F	V	+	1	0	TDRD3	59939464	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.519000	0.60517	1.346000	0.45694	0.655000	0.94253	GTT		0.383	TDRD3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045175.2		NM_030794		70	107	1	0	1.79293e-35	0.048971	2.11982e-35	70	107		
PCDH9	5101	broad.mit.edu	37	13	67799771	67799771	+	Silent	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr13:67799771G>A	ENST00000377865.2	-	1	2936	c.2802C>T	c.(2800-2802)gaC>gaT	p.D934D	PCDH9_ENST00000377861.3_Silent_p.D934D|PCDH9_ENST00000544246.1_Silent_p.D934D|PCDH9_ENST00000328454.5_Silent_p.D934D|PCDH9_ENST00000456367.1_Silent_p.D934D			Q9HC56	PCDH9_HUMAN	protocadherin 9	934					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D934D(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GCTTGGCCAGGTCAGGACTGT	0.507																																						uc001vik.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(4)|pancreas(1)|skin(1)	6						c.(2800-2802)GAC>GAT		protocadherin 9 isoform 1 precursor							143.0	140.0	141.0					13																	67799771		2203	4300	6503	SO:0001819	synonymous_variant	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67799771G>A	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.2802C>T	13.37:g.67799771G>A						PCDH9_uc001vil.2_Silent_p.D934D|PCDH9_uc010thl.1_Silent_p.D934D|PCDH9_uc001vin.3_Silent_p.D934D	p.D934D	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	3494	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	934			Cytoplasmic (Potential).		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Silent	SNP	ENST00000377865.2	37	c.2802C>T	CCDS9444.1																																																																																				0.507	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1		NM_203487		19	176	0	0	0	0.069288	0	19	176		
OR4N5	390437	broad.mit.edu	37	14	20612221	20612221	+	Silent	SNP	G	G	T	rs138565527		TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr14:20612221G>T	ENST00000333629.1	+	1	327	c.327G>T	c.(325-327)gcG>gcT	p.A109A	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A109A(1)		endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TTCTTGGAGCGGGAGAGATGT	0.488																																						uc010tla.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(325-327)GCG>GCT		olfactory receptor, family 4, subfamily N,							129.0	130.0	130.0					14																	20612221		2203	4300	6503	SO:0001819	synonymous_variant	390437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20612221G>T		CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"""GPCR / Class A : Olfactory receptors"""	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.327G>T	14.37:g.20612221G>T							p.A109A	NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)	1	327	+	all_cancers(95;0.00108)		109			Helical; Name=3; (Potential).		Q6IF11	Silent	SNP	ENST00000333629.1	37	c.327G>T	CCDS32031.1																																																																																				0.488	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410347.1				84	220	1	0	1.21826e-31	0.048971	1.41689e-31	84	220		
SALL2	6297	broad.mit.edu	37	14	21992660	21992660	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr14:21992660T>C	ENST00000327430.3	-	2	1496	c.1202A>G	c.(1201-1203)tAt>tGt	p.Y401C	AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000450879.2_Missense_Mutation_p.Y264C	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	401					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Y401C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		ATTGCACTTATAGGGCCTCTC	0.532																																						uc001wbe.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|large_intestine(1)	3						c.(1201-1203)TAT>TGT		sal-like 2							118.0	102.0	107.0					14																	21992660		2203	4300	6503	SO:0001583	missense	6297						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21992660T>C	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"""Zinc fingers, C2H2-type"""	10526	protein-coding gene	gene with protein product		602219	"""sal (Drosophila)-like 2"", ""sal-like 2 (Drosophila)"""			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.1202A>G	14.37:g.21992660T>C	ENSP00000333537:p.Tyr401Cys					SALL2_uc010tly.1_Missense_Mutation_p.Y399C|SALL2_uc010tlz.1_Missense_Mutation_p.Y264C|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Missense_Mutation_p.Y266C|SALL2_uc001wbg.1_Intron	p.Y401C	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN		GBM - Glioblastoma multiforme(265;0.0151)	2	1484	-	all_cancers(95;0.000662)		401			C2H2-type 2.		B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Missense_Mutation	SNP	ENST00000327430.3	37	c.1202A>G	CCDS32045.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.87|13.87	2.365238|2.365238	0.41902|0.41902	.|.	.|.	ENSG00000165821|ENSG00000165821	ENST00000546363|ENST00000327430;ENST00000450879;ENST00000541876	.|T;T	.|0.25414	.|1.8;1.8	4.3|4.3	3.16|3.16	0.36331|0.36331	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|0.000000	.|0.34507	.|N	.|0.003910	T|T	0.40372|0.40372	0.1114|0.1114	L|L	0.52364|0.52364	1.645|1.645	0.46222|0.46222	D|D	0.998936|0.998936	.|B;B;B;D	.|0.89917	.|0.09;0.09;0.09;1.0	.|B;B;B;D	.|0.87578	.|0.105;0.105;0.105;0.998	T|T	0.16217|0.16217	-1.0410|-1.0410	5|10	.|0.87932	.|D	.|0	-21.8467|-21.8467	7.8164|7.8164	0.29263|0.29263	0.0:0.1005:0.0:0.8995|0.0:0.1005:0.0:0.8995	.|.	.|264;264;399;401	.|B4DK65;E7EW59;B4DFD9;Q9Y467	.|.;.;.;SALL2_HUMAN	V|C	260|401;264;401	.|ENSP00000333537:Y401C;ENSP00000396773:Y264C	.|ENSP00000333537:Y401C	I|Y	-|-	1|2	0|0	SALL2|SALL2	21062500|21062500	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	1.596000|1.596000	0.36718|0.36718	0.704000|0.704000	0.31869|0.31869	-0.250000|-0.250000	0.11733|0.11733	ATA|TAT		0.532	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1		NM_005407		28	103	0	0	0	0.030593	0	28	103		
HECTD1	25831	broad.mit.edu	37	14	31637558	31637558	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr14:31637558C>A	ENST00000399332.1	-	10	2056	c.1568G>T	c.(1567-1569)aGg>aTg	p.R523M	HECTD1_ENST00000553700.1_Missense_Mutation_p.R523M	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	523					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.R523M(1)		breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TGGCAATAACCTTTTCAAGTA	0.338																																						uc001wrc.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|large_intestine(1)|lung(1)	5						c.(1567-1569)AGG>ATG		HECT domain containing 1							252.0	246.0	248.0					14																	31637558		1856	4094	5950	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31637558C>A	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.1568G>T	14.37:g.31637558C>A	ENSP00000382269:p.Arg523Met					HECTD1_uc001wrd.1_Missense_Mutation_p.R38M	p.R523M	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	10	2057	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		523					D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.1568G>T	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	C	19.37	3.815094	0.70912	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000556224	T;T;T	0.64438	-0.1;-0.1;-0.1	5.38	4.49	0.54785	Armadillo-type fold (1);	0.041854	0.85682	D	0.000000	T	0.57695	0.2071	L	0.47716	1.5	0.80722	D	1	P;P	0.52316	0.952;0.826	B;B	0.43754	0.43;0.188	T	0.59467	-0.7449	10	0.40728	T	0.16	-6.2946	14.3448	0.66654	0.0:0.9283:0.0:0.0717	.	523;523	D3DS86;Q9ULT8	.;HECD1_HUMAN	M	523	ENSP00000450697:R523M;ENSP00000382269:R523M;ENSP00000452015:R523M	ENSP00000261312:R523M	R	-	2	0	HECTD1	30707309	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.583000	0.82559	1.399000	0.46721	0.467000	0.42956	AGG		0.338	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1				83	274	1	0	3.71514e-35	0.048971	4.36835e-35	83	274		
CLEC14A	161198	broad.mit.edu	37	14	38724033	38724033	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr14:38724033C>T	ENST00000342213.2	-	1	1541	c.1195G>A	c.(1195-1197)Gtc>Atc	p.V399I		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	399						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.V399I(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		AATATGAAGACCACGGCAGAG	0.507																																						uc001wum.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|skin(1)	4						c.(1195-1197)GTC>ATC		C-type lectin domain family 14, member A							53.0	50.0	51.0					14																	38724033		2203	4300	6503	SO:0001583	missense	161198					integral to membrane	sugar binding	g.chr14:38724033C>T		CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"""C-type lectin domain containing"""	19832	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 27"""	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.1195G>A	14.37:g.38724033C>T	ENSP00000353013:p.Val399Ile						p.V399I	NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)	1	1542	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		399			Helical; (Potential).		Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	ENST00000342213.2	37	c.1195G>A	CCDS9667.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.340206	0.60963	.	.	ENSG00000176435	ENST00000342213;ENST00000546356	T	0.76839	-1.05	4.79	4.79	0.61399	.	0.559907	0.13460	N	0.386189	D	0.82476	0.5045	L	0.34521	1.04	0.34691	D	0.725727	D	0.71674	0.998	D	0.76071	0.987	D	0.85565	0.1230	10	0.87932	D	0	-19.7522	14.0688	0.64849	0.0:1.0:0.0:0.0	.	399	Q86T13	CLC14_HUMAN	I	399;164	ENSP00000353013:V399I	ENSP00000353013:V399I	V	-	1	0	CLEC14A	37793784	0.999000	0.42202	1.000000	0.80357	0.217000	0.24651	2.660000	0.46749	2.605000	0.88082	0.563000	0.77884	GTC		0.507	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1		NM_175060		12	49	0	0	0	0.024245	0	12	49		
ABCD4	5826	broad.mit.edu	37	14	74756769	74756769	+	Silent	SNP	T	T	A	rs372482451		TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr14:74756769T>A	ENST00000356924.4	-	13	1523	c.1380A>T	c.(1378-1380)ccA>ccT	p.P460P	ABCD4_ENST00000557554.1_5'Flank|ABCD4_ENST00000298816.7_Silent_p.P356P|AC005519.4_ENST00000554532.2_RNA	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	460	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cobalamin metabolic process (GO:0009235)|transmembrane transport (GO:0055085)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.P460P(1)		cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		ATGGCTTTTGTGGCAGGAATA	0.597											OREG0022800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001xpr.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	upper_aerodigestive_tract(2)|large_intestine(1)|ovary(1)	4						c.(1378-1380)CCA>CCT		ATP-binding cassette, sub-family D, member 4							81.0	84.0	83.0					14																	74756769		2203	4300	6503	SO:0001819	synonymous_variant	5826					ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr14:74756769T>A	AF009746	CCDS9828.1	14q24	2012-03-14			ENSG00000119688	ENSG00000119688		"""ATP binding cassette transporters / subfamily D"""	68	protein-coding gene	gene with protein product		603214		PXMP1L		9266848, 9302272	Standard	NR_003256		Approved	PMP69, P70R, EST352188	uc001xpr.2	O14678	OTTHUMG00000171207	ENST00000356924.4:c.1380A>T	14.37:g.74756769T>A			OREG0022800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1155	ABCD4_uc001xps.2_Silent_p.P301P|ABCD4_uc001xpt.2_Silent_p.P301P|ABCD4_uc010tur.1_Silent_p.P356P	p.P460P	NM_005050	NP_005041	O14678	ABCD4_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00153)	13	1532	-			460			ABC transporter.		A8K5L7|Q6IAQ0|Q96E75	Silent	SNP	ENST00000356924.4	37	c.1380A>T	CCDS9828.1	.	.	.	.	.	.	.	.	.	.	T	11.56	1.673738	0.29693	.	.	ENSG00000119688	ENST00000556517	.	.	.	5.76	-9.25	0.00666	.	.	.	.	.	T	0.33089	0.0851	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44711	-0.9310	4	.	.	.	.	2.0841	0.03641	0.2414:0.1188:0.3819:0.2579	.	.	.	.	L	72	.	.	H	-	2	0	ABCD4	73826522	0.003000	0.15002	0.909000	0.35828	0.946000	0.59487	-1.629000	0.02029	-1.066000	0.03164	0.379000	0.24179	CAC		0.597	ABCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314382.1		NM_005050		50	71	0	0	0	0.048971	0	50	71		
LTBP2	4053	broad.mit.edu	37	14	74988700	74988700	+	Missense_Mutation	SNP	C	C	T	rs375251079		TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr14:74988700C>T	ENST00000261978.4	-	17	3088	c.2702G>A	c.(2701-2703)cGc>cAc	p.R901H	LTBP2_ENST00000556690.1_Missense_Mutation_p.R901H	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	901	Cys-rich.|EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.R901H(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GTTGATGCAGCGCCCTTTTCC	0.627																																						uc001xqa.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	liver(1)|skin(1)	2						c.(2701-2703)CGC>CAC		latent transforming growth factor beta binding		C	HIS/ARG	0,4406		0,0,2203	82.0	73.0	76.0		2702	2.1	1.0	14		76	2,8598	2.2+/-6.3	0,2,4298	no	missense	LTBP2	NM_000428.2	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	901/1822	74988700	2,13004	2203	4300	6503	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74988700C>T		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.2702G>A	14.37:g.74988700C>T	ENSP00000261978:p.Arg901His						p.R901H	NM_000428	NP_000419	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	17	3089	-			901			EGF-like 5; calcium-binding (Potential).|Cys-rich.		Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.2702G>A	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.895609	0.33442	0.0	2.33E-4	ENSG00000119681	ENST00000261978;ENST00000556690	T;T	0.18338	2.22;2.22	3.99	2.14	0.27477	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.184414	0.26525	N	0.023890	T	0.14874	0.0359	L	0.53729	1.69	0.35595	D	0.807421	B	0.17852	0.024	B	0.12156	0.007	T	0.10870	-1.0611	10	0.30078	T	0.28	.	8.0539	0.30593	0.0:0.7952:0.0:0.2048	.	901	Q14767	LTBP2_HUMAN	H	901	ENSP00000261978:R901H;ENSP00000451477:R901H	ENSP00000261978:R901H	R	-	2	0	LTBP2	74058453	0.961000	0.32948	0.970000	0.41538	0.646000	0.38490	-0.045000	0.12003	0.453000	0.26858	0.462000	0.41574	CGC		0.627	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1		NM_000428		5	57	0	0	0	0.014758	0	5	57		
HERC2	8924	broad.mit.edu	37	15	28421740	28421741	+	Missense_Mutation	DNP	CC	CC	AA	rs557061893		TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr15:28421740_28421741CC>AA	ENST00000261609.7	-	63	9627_9628	c.9519_9520GG>TT	c.(9517-9522)ttGGta>ttTTta	p.3173_3174LV>FL		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.V3174L(1)|p.L3173>?(1)|p.L3173F(1)		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)		CAGGAAAATACCAAACCTAGGT	0.495																																						uc001zbj.2		NaN																	3	Substitution - Missense(2)|Complex(1)		urinary_tract(3)	ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(9517-9522)TTGGTA>TTTTTA		hect domain and RLD 2																																				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.chr15:28421740_28421741CC>AA	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.9519_9520delinsAA	15.37:g.28421740_28421741delinsAA	ENSP00000261609:p.L3173_V3174delinsFL						p.3173_3174LV>FL	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)	63	9625_9626	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	3173_3174			RCC1 10.			Missense_Mutation	DNP	ENST00000261609.7	37	c.9519_9520GG>TT	CCDS10021.1																																																																																				0.495	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2		NM_004667		73	191	0	0	0	0.004672	0	73	191		
TMEM62	80021	broad.mit.edu	37	15	43427845	43427845	+	Missense_Mutation	SNP	A	A	G	rs17409851		TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr15:43427845A>G	ENST00000260403.2	+	3	707	c.428A>G	c.(427-429)cAt>cGt	p.H143R		NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	143						integral component of membrane (GO:0016021)		p.H143R(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		AAAGGAAATCATGGTAAGAGC	0.408																																						uc001zqr.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|breast(1)	2						c.(427-429)CAT>CGT		transmembrane protein 62							68.0	68.0	68.0					15																	43427845		2203	4299	6502	SO:0001583	missense	80021					integral to membrane		g.chr15:43427845A>G	BC009981	CCDS32210.1	15q15.2	2014-09-11			ENSG00000137842	ENSG00000137842			26269	protein-coding gene	gene with protein product							Standard	NM_024956		Approved	FLJ23375	uc001zqr.3	Q0P6H9	OTTHUMG00000176485	ENST00000260403.2:c.428A>G	15.37:g.43427845A>G	ENSP00000260403:p.His143Arg					TMEM62_uc010bda.2_Missense_Mutation_p.H13R	p.H143R	NM_024956	NP_079232	Q0P6H9	TMM62_HUMAN		GBM - Glioblastoma multiforme(94;4.23e-07)	3	707	+		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)	143					Q6I9Y5|Q9H5J6	Missense_Mutation	SNP	ENST00000260403.2	37	c.428A>G	CCDS32210.1	.	.	.	.	.	.	.	.	.	.	A	18.61	3.661161	0.67700	.	.	ENSG00000137842	ENST00000260403	D	0.93133	-3.17	4.79	4.79	0.61399	.	0.055514	0.64402	D	0.000001	D	0.94568	0.8250	M	0.79123	2.44	0.80722	D	1	P	0.51653	0.947	P	0.51055	0.657	D	0.95065	0.8199	10	0.87932	D	0	-10.6913	12.9953	0.58644	1.0:0.0:0.0:0.0	.	143	Q0P6H9	TMM62_HUMAN	R	143	ENSP00000260403:H143R	ENSP00000260403:H143R	H	+	2	0	TMEM62	41215137	1.000000	0.71417	1.000000	0.80357	0.645000	0.38454	8.451000	0.90343	2.138000	0.66242	0.460000	0.39030	CAT		0.408	TMEM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432227.1		NM_024956		4	34	0	0	0	0.014758	0	4	34		
CHRNA3	1136	broad.mit.edu	37	15	78893669	78893669	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr15:78893669G>T	ENST00000326828.5	-	5	1699	c.1315C>A	c.(1315-1317)Cca>Aca	p.P439T	CHRNA3_ENST00000348639.3_Missense_Mutation_p.P439T	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	439					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane potential (GO:0042391)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)	p.P439T(1)		central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18					Bupropion(DB01156)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)|Varenicline(DB01273)	TTGATTTCTGGTGACAAAGCA	0.408																																						uc002bec.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(3)|ovary(1)	4						c.(1315-1317)CCA>ACA		cholinergic receptor, nicotinic, alpha 3							153.0	150.0	151.0					15																	78893669		2196	4293	6489	SO:0001583	missense	1136				activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78893669G>T		CCDS10305.1, CCDS53964.1	15q24	2012-02-11	2012-02-07		ENSG00000080644	ENSG00000080644		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1957	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 3 (neuronal)"""	118503	"""cholinergic receptor, nicotinic, alpha polypeptide 3"""			2004777	Standard	NM_000743		Approved		uc002bec.3	P32297	OTTHUMG00000143863	ENST00000326828.5:c.1315C>A	15.37:g.78893669G>T	ENSP00000315602:p.Pro439Thr					CHRNA3_uc002bea.2_RNA|CHRNA3_uc002beb.2_Missense_Mutation_p.P439T	p.P439T	NM_000743	NP_000734	P32297	ACHA3_HUMAN			5	1501	-			439			Cytoplasmic (Potential).		Q15823|Q4KMN8|Q86U77|Q96RH3|Q99553|Q9BQ93|Q9BRR4	Missense_Mutation	SNP	ENST00000326828.5	37	c.1315C>A	CCDS10305.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.151348	0.78001	.	.	ENSG00000080644	ENST00000348639;ENST00000326828	D;D	0.86297	-2.1;-2.1	5.79	5.79	0.91817	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.103842	0.64402	D	0.000002	D	0.93419	0.7901	M	0.79123	2.44	0.80722	D	1	D;P	0.63046	0.992;0.846	D;P	0.66351	0.943;0.687	D	0.92896	0.6335	10	0.52906	T	0.07	.	20.0206	0.97499	0.0:0.0:1.0:0.0	.	439;439	P32297;P32297-3	ACHA3_HUMAN;.	T	439	ENSP00000267951:P439T;ENSP00000315602:P439T	ENSP00000315602:P439T	P	-	1	0	CHRNA3	76680724	1.000000	0.71417	0.793000	0.32043	0.992000	0.81027	9.761000	0.98940	2.731000	0.93534	0.591000	0.81541	CCA		0.408	CHRNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290111.3				65	148	1	0	2.79145e-41	0.048971	3.31872e-41	65	148		
BNC1	646	broad.mit.edu	37	15	83935803	83935803	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr15:83935803G>A	ENST00000345382.2	-	3	305	c.220C>T	c.(220-222)Ccc>Tcc	p.P74S	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.P67S	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	74					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P74S(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TACATGGGGGGGATCCTTAGC	0.423																																						uc002bjt.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)	3						c.(220-222)CCC>TCC		basonuclin 1							50.0	50.0	50.0					15																	83935803		2203	4300	6503	SO:0001583	missense	646				epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:83935803G>A	L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.220C>T	15.37:g.83935803G>A	ENSP00000307041:p.Pro74Ser					BNC1_uc010uos.1_Missense_Mutation_p.P62S	p.P74S	NM_001717	NP_001708	Q01954	BNC1_HUMAN			3	308	-			74					Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	c.220C>T	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.393633	0.62066	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.02974	4.09	5.45	5.45	0.79879	.	0.108905	0.64402	D	0.000005	T	0.11153	0.0272	L	0.44542	1.39	0.58432	D	0.999998	D;D	0.76494	0.999;0.997	D;P	0.71656	0.974;0.84	T	0.02232	-1.1191	10	0.45353	T	0.12	-27.3866	19.4688	0.94954	0.0:0.0:1.0:0.0	.	67;74	F5GY04;Q01954	.;BNC1_HUMAN	S	74;67	ENSP00000307041:P74S	ENSP00000307041:P74S	P	-	1	0	BNC1	81726807	1.000000	0.71417	0.907000	0.35723	0.159000	0.22180	9.554000	0.98121	2.838000	0.97847	0.561000	0.74099	CCC		0.423	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1		NM_001717		18	43	0	0	0	0.038395	0	18	43		
FAM169B	283777	broad.mit.edu	37	15	99023900	99023900	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr15:99023900G>A	ENST00000558256.1	-	4	362	c.113C>T	c.(112-114)tCt>tTt	p.S38F	FAM169B_ENST00000332908.4_Missense_Mutation_p.S38F	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B	38								p.S38F(1)		large_intestine(3)|lung(3)|urinary_tract(1)	7						TTCCTTCACAGAGTGAGGTAG	0.443																																						uc002buk.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(112-114)TCT>TTT		hypothetical protein LOC283777							116.0	112.0	113.0					15																	99023900		1899	4128	6027	SO:0001583	missense	283777							g.chr15:99023900G>A		CCDS45360.1	15q26.3	2008-08-08			ENSG00000185087	ENSG00000185087			26835	protein-coding gene	gene with protein product							Standard	NM_182562		Approved	FLJ39743, KIAA0888L	uc002buk.1	Q8N8A8		ENST00000558256.1:c.113C>T	15.37:g.99023900G>A	ENSP00000453554:p.Ser38Phe						p.S38F	NM_182562	NP_872368	Q8N8A8	F169B_HUMAN			4	363	-			38					B5MDL8	Missense_Mutation	SNP	ENST00000558256.1	37	c.113C>T	CCDS45360.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.295485	0.81025	.	.	ENSG00000185087	ENST00000332908	T	0.35048	1.33	5.27	5.27	0.74061	.	0.411126	0.24470	N	0.038253	T	0.52075	0.1712	L	0.39898	1.24	0.41608	D	0.988899	D	0.76494	0.999	D	0.69479	0.964	T	0.54754	-0.8246	10	0.87932	D	0	-10.2228	17.4782	0.87666	0.0:0.0:1.0:0.0	.	38	Q8N8A8	F169B_HUMAN	F	38	ENSP00000332615:S38F	ENSP00000332615:S38F	S	-	2	0	FAM169B	96841423	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	7.367000	0.79558	2.447000	0.82792	0.655000	0.94253	TCT		0.443	FAM169B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415488.1		NM_182562		42	60	0	0	0	0.042209	0	42	60		
TTC23	64927	broad.mit.edu	37	15	99715294	99715294	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr15:99715294C>T	ENST00000394132.2	-	10	1643	c.826G>A	c.(826-828)Gcc>Acc	p.A276T	TTC23_ENST00000262074.4_Missense_Mutation_p.A276T|TTC23_ENST00000558613.1_Missense_Mutation_p.A276T|TTC23_ENST00000394129.2_Missense_Mutation_p.A276T|TTC23_ENST00000558663.1_Missense_Mutation_p.A276T|TTC23_ENST00000394135.3_Missense_Mutation_p.A276T|TTC23_ENST00000394130.1_Missense_Mutation_p.A276T|TTC23_ENST00000394136.1_Missense_Mutation_p.A276T			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	276								p.A276T(1)		endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			GCAGCATGGGCGACGATGTGT	0.512																																						uc002bur.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(826-828)GCC>ACC		tetratricopeptide repeat domain 23							90.0	70.0	77.0					15																	99715294		2197	4297	6494	SO:0001583	missense	64927						binding	g.chr15:99715294C>T		CCDS10379.2	15q26.3	2013-01-11			ENSG00000103852	ENSG00000103852		"""Tetratricopeptide (TTC) repeat domain containing"""	25730	protein-coding gene	gene with protein product						12477932	Standard	NM_001288615		Approved	FLJ12572, HCC-8	uc002bux.3	Q5W5X9	OTTHUMG00000147344	ENST00000394132.2:c.826G>A	15.37:g.99715294C>T	ENSP00000377690:p.Ala276Thr					TTC23_uc002bus.2_Missense_Mutation_p.A276T|TTC23_uc002but.2_Missense_Mutation_p.A276T|TTC23_uc002buu.2_Missense_Mutation_p.A276T|TTC23_uc002buv.2_Missense_Mutation_p.A276T|TTC23_uc002bux.2_Missense_Mutation_p.A276T|TTC23_uc002buw.2_Missense_Mutation_p.A276T|TTC23_uc010boq.2_RNA|TTC23_uc002buy.2_Missense_Mutation_p.A276T|TTC23_uc010bor.2_Missense_Mutation_p.A276T|TTC23_uc002buz.2_Missense_Mutation_p.A276T	p.A276T	NM_022905	NP_075056	Q5W5X9	TTC23_HUMAN	all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)		9	1357	-	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		276					A8K6M5|Q53HK0|Q96BC9|Q9H8W9|Q9H9S7	Missense_Mutation	SNP	ENST00000394132.2	37	c.826G>A	CCDS10379.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.20|16.20	3.057219|3.057219	0.55325|0.55325	.|.	.|.	ENSG00000103852|ENSG00000103852	ENST00000394132;ENST00000394136;ENST00000262074;ENST00000394135;ENST00000394130;ENST00000394129|ENST00000434594	T;T;T;T;T;T|.	0.76448|.	-0.02;-0.02;-0.02;-0.02;-0.02;-1.02|.	6.07|6.07	6.07|6.07	0.98685|0.98685	Tetratricopeptide-like helical (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74756|0.74756	0.3758|0.3758	M|M	0.72894|0.72894	2.215|2.215	0.43673|0.43673	D|D	0.996104|0.996104	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.998;0.999|.	T|T	0.72849|0.72849	-0.4168|-0.4168	10|5	0.66056|.	D|.	0.02|.	-19.5253|-19.5253	16.1594|16.1594	0.81686|0.81686	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	276;276|.	Q5W5X9-2;Q5W5X9|.	.;TTC23_HUMAN|.	T|H	276|11	ENSP00000377690:A276T;ENSP00000377693:A276T;ENSP00000262074:A276T;ENSP00000377692:A276T;ENSP00000377688:A276T;ENSP00000457901:A276T|.	ENSP00000262074:A276T|.	A|R	-|-	1|2	0|0	TTC23|TTC23	97532817|97532817	0.993000|0.993000	0.37304|0.37304	0.965000|0.965000	0.40720|0.40720	0.179000|0.179000	0.23085|0.23085	3.841000|3.841000	0.55850|0.55850	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.512	TTC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303953.2		NM_022905		27	53	0	0	0	0.037714	0	27	53		
CERS3	204219	broad.mit.edu	37	15	101041925	101041925	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr15:101041925G>A	ENST00000394113.1	-	5	820	c.130C>T	c.(130-132)Cca>Tca	p.P44S	CERS3_ENST00000538112.2_Missense_Mutation_p.P44S|CERS3_ENST00000560944.1_Intron|CERS3_ENST00000284382.4_Missense_Mutation_p.P44S			Q8IU89	CERS3_HUMAN	ceramide synthase 3	44					ceramide biosynthetic process (GO:0046513)|keratinocyte differentiation (GO:0030216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)	p.P44S(1)									AAAGCATATGGAATTGTCACG	0.393																																						uc002bvz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(130-132)CCA>TCA		LAG1 longevity assurance homolog 3							104.0	90.0	95.0					15																	101041925		2203	4300	6503	SO:0001583	missense	204219					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr15:101041925G>A		CCDS10384.1	15q26.3	2012-11-19	2011-07-08	2011-07-08	ENSG00000154227	ENSG00000154227		"""Homeoboxes / CERS class"""	23752	protein-coding gene	gene with protein product		615276	"""LAG1 longevity assurance homolog 3 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 3"""	LASS3			Standard	NM_178842		Approved	MGC27091	uc002bwb.3	Q8IU89	OTTHUMG00000172568	ENST00000394113.1:c.130C>T	15.37:g.101041925G>A	ENSP00000377672:p.Pro44Ser					LASS3_uc002bwa.2_Missense_Mutation_p.P55S|LASS3_uc002bwb.2_Missense_Mutation_p.P44S	p.P44S	NM_178842	NP_849164	Q8IU89	CERS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000867)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)		4	632	-	Lung NSC(78;0.0018)|all_lung(78;0.00278)|Melanoma(26;0.00852)		44			Helical; (Potential).		Q8NE64|Q8NEN6	Missense_Mutation	SNP	ENST00000394113.1	37	c.130C>T	CCDS10384.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169207	0.78339	.	.	ENSG00000154227	ENST00000284382;ENST00000394113;ENST00000538112	T;T	0.75260	-0.92;-0.92	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.89083	0.6614	M	0.92268	3.29	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91319	0.5080	10	0.87932	D	0	-11.8444	14.8901	0.70604	0.0:0.0:1.0:0.0	.	44	Q8IU89	CERS3_HUMAN	S	44;55;44	ENSP00000284382:P44S;ENSP00000437640:P44S	ENSP00000284382:P44S	P	-	1	0	CERS3	98859448	1.000000	0.71417	0.988000	0.46212	0.709000	0.40893	7.198000	0.77823	2.583000	0.87209	0.650000	0.86243	CCA		0.393	CERS3-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313594.4		NM_178842		8	72	0	0	0	0.047766	0	8	72		
DNAH3	55567	broad.mit.edu	37	16	20966209	20966209	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr16:20966209A>G	ENST00000261383.3	-	55	10996	c.10997T>C	c.(10996-10998)aTg>aCg	p.M3666T	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3666	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.M3666T(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTTTTGCCACATCACCGCCTT	0.527																																						uc010vbe.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(10996-10998)ATG>ACG		dynein, axonemal, heavy chain 3							130.0	124.0	126.0					16																	20966209		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20966209A>G	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.10997T>C	16.37:g.20966209A>G	ENSP00000261383:p.Met3666Thr					DNAH3_uc010vbd.1_Missense_Mutation_p.M1101T	p.M3666T	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	55	10997	-			3666			AAA 6 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.10997T>C	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	A	1.311	-0.602184	0.03744	.	.	ENSG00000158486	ENST00000261383	T	0.07688	3.17	5.43	5.43	0.79202	Dynein heavy chain (1);	0.402198	0.30879	N	0.008684	T	0.06962	0.0177	N	0.25647	0.755	0.46678	D	0.999153	B	0.27166	0.17	B	0.29942	0.109	T	0.41556	-0.9502	10	0.23302	T	0.38	.	10.6888	0.45858	0.8575:0.0:0.0:0.1425	.	3666	Q8TD57	DYH3_HUMAN	T	3666	ENSP00000261383:M3666T	ENSP00000261383:M3666T	M	-	2	0	DNAH3	20873710	0.977000	0.34250	0.395000	0.26283	0.388000	0.30384	4.769000	0.62300	2.058000	0.61347	0.533000	0.62120	ATG		0.527	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1		NM_017539		64	172	0	0	0	0.048971	0	64	172		
DNAH3	55567	broad.mit.edu	37	16	21117941	21117941	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr16:21117941G>T	ENST00000261383.3	-	15	2153	c.2154C>A	c.(2152-2154)aaC>aaA	p.N718K	DNAH3_ENST00000415178.1_Missense_Mutation_p.N718K	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	718	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.N718K(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCTCCTTAGTGTTGGCAGGAA	0.443																																						uc010vbe.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(2152-2154)AAC>AAA		dynein, axonemal, heavy chain 3							120.0	106.0	111.0					16																	21117941		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21117941G>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.2154C>A	16.37:g.21117941G>T	ENSP00000261383:p.Asn718Lys					DNAH3_uc002die.2_Missense_Mutation_p.N658K	p.N718K	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	15	2154	-			718			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.2154C>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.957138	0.34565	.	.	ENSG00000158486	ENST00000261383;ENST00000415178;ENST00000396036	T;T	0.22539	1.95;2.08	5.42	2.28	0.28536	.	0.437988	0.24303	N	0.039714	T	0.33235	0.0856	L	0.47190	1.495	0.40407	D	0.97971	P;D	0.71674	0.839;0.998	B;D	0.65233	0.231;0.933	T	0.02015	-1.1229	10	0.48119	T	0.1	.	10.3691	0.44042	0.2254:0.0:0.7746:0.0	.	718;658	Q8TD57;Q8TD57-2	DYH3_HUMAN;.	K	718;718;658	ENSP00000261383:N718K;ENSP00000394245:N718K	ENSP00000261383:N718K	N	-	3	2	DNAH3	21025442	1.000000	0.71417	0.989000	0.46669	0.414000	0.31173	2.716000	0.47219	0.234000	0.21139	0.650000	0.86243	AAC		0.443	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1		NM_017539		27	72	1	0	7.26314e-15	0.034045	7.97083e-15	27	72		
IL21R	50615	broad.mit.edu	37	16	27460030	27460030	+	Missense_Mutation	SNP	A	A	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr16:27460030A>T	ENST00000337929.3	+	9	1516	c.1043A>T	c.(1042-1044)aAg>aTg	p.K348M	IL21R_ENST00000395755.1_Missense_Mutation_p.K348M|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000564089.1_Missense_Mutation_p.K348M|IL21R_ENST00000395754.4_Missense_Mutation_p.K348M	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	348					interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)	p.K348M(1)		breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GGTGTGCCCAAGCCCAGCTTC	0.627			T	BCL6	NHL																																	uc002doq.1		NaN		Dom	yes		16	16p11	50615	T	interleukin 21 receptor			L	BCL6		NHL		1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|lung(1)|breast(1)	4						c.(1042-1044)AAG>ATG		interleukin 21 receptor precursor							44.0	44.0	44.0					16																	27460030		2197	4300	6497	SO:0001583	missense	50615				natural killer cell activation	integral to membrane	interleukin-21 receptor activity	g.chr16:27460030A>T	AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"""Interleukins and interleukin receptors"", ""CD molecules"""	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.1043A>T	16.37:g.27460030A>T	ENSP00000338010:p.Lys348Met					IL21R_uc002dor.1_Missense_Mutation_p.K348M|IL21R_uc002dos.1_Missense_Mutation_p.K348M|uc002dot.2_RNA	p.K348M	NM_181078	NP_851564	Q9HBE5	IL21R_HUMAN			9	1276	+			348			Cytoplasmic (Potential).		A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Missense_Mutation	SNP	ENST00000337929.3	37	c.1043A>T	CCDS10630.1	.	.	.	.	.	.	.	.	.	.	A	11.77	1.738845	0.30774	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	T;T;T	0.36340	1.26;1.26;1.26	4.72	-0.35	0.12606	.	1.267280	0.05367	N	0.534714	T	0.16981	0.0408	N	0.19112	0.55	0.09310	N	1	P	0.40230	0.708	B	0.21546	0.035	T	0.16217	-1.0410	10	0.59425	D	0.04	-4.1628	3.39	0.07285	0.5429:0.0:0.2741:0.183	.	348	Q9HBE5	IL21R_HUMAN	M	348	ENSP00000338010:K348M;ENSP00000379104:K348M;ENSP00000379103:K348M	ENSP00000338010:K348M	K	+	2	0	IL21R	27367531	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	0.041000	0.13927	-0.287000	0.09064	0.459000	0.35465	AAG		0.627	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2		NM_181078		25	79	0	0	0	0.030593	0	25	79		
ZNF629	23361	broad.mit.edu	37	16	30793590	30793590	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr16:30793590C>T	ENST00000262525.4	-	3	2266	c.2059G>A	c.(2059-2061)Gaa>Aaa	p.E687K	RP11-2C24.6_ENST00000575562.1_RNA	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	687					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E687K(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			AAGGGCTTTTCGTTGCCGTGG	0.567																																						uc002dzs.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(2059-2061)GAA>AAA		zinc finger protein 629							27.0	28.0	28.0					16																	30793590		2000	4170	6170	SO:0001583	missense	23361				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30793590C>T	AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"""Zinc fingers, C2H2-type"""	29008	protein-coding gene	gene with protein product			"""zinc finger protein 65"""	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.2059G>A	16.37:g.30793590C>T	ENSP00000262525:p.Glu687Lys						p.E687K	NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	Colorectal(24;0.198)		3	2267	-			687					Q15938	Missense_Mutation	SNP	ENST00000262525.4	37	c.2059G>A	CCDS45463.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.084155	0.76642	.	.	ENSG00000102870	ENST00000262525	T	0.63913	-0.07	5.36	5.36	0.76844	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42420	D	0.000719	T	0.73001	0.3531	M	0.71296	2.17	0.45946	D	0.998775	D	0.65815	0.995	P	0.53146	0.719	T	0.75534	-0.3284	10	0.59425	D	0.04	-7.4014	18.0318	0.89286	0.0:1.0:0.0:0.0	.	687	Q9UEG4	ZN629_HUMAN	K	687	ENSP00000262525:E687K	ENSP00000262525:E687K	E	-	1	0	ZNF629	30701091	0.449000	0.25689	0.410000	0.26471	0.982000	0.71751	2.786000	0.47790	2.793000	0.96121	0.561000	0.74099	GAA		0.567	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1		NM_015309		17	25	0	0	0	0.0333	0	17	25		
ZNF423	23090	broad.mit.edu	37	16	49671865	49671865	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr16:49671865C>T	ENST00000561648.1	-	4	1251	c.1198G>A	c.(1198-1200)Gac>Aac	p.D400N	ZNF423_ENST00000567169.1_Missense_Mutation_p.D283N|ZNF423_ENST00000563137.2_Missense_Mutation_p.D340N|ZNF423_ENST00000535559.1_Missense_Mutation_p.D283N|ZNF423_ENST00000562520.1_Missense_Mutation_p.D340N|ZNF423_ENST00000262383.2_Missense_Mutation_p.D400N|ZNF423_ENST00000562871.1_Missense_Mutation_p.D340N	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	400					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D400N(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CCCTGCCCGTCATCCCGCATC	0.627																																						uc002efs.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)|lung(1)|kidney(1)|pancreas(1)	4						c.(1198-1200)GAC>AAC		zinc finger protein 423							48.0	42.0	44.0					16																	49671865		2198	4300	6498	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49671865C>T	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.1198G>A	16.37:g.49671865C>T	ENSP00000455426:p.Asp400Asn					ZNF423_uc010vgn.1_Missense_Mutation_p.D283N	p.D400N	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN			5	1496	-		all_cancers(37;0.0155)	400					O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.1198G>A	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	C	9.265	1.044161	0.19748	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.09350	2.99;3.04	5.24	5.24	0.73138	.	0.440602	0.26542	N	0.023791	T	0.11367	0.0277	L	0.36672	1.1	0.36753	D	0.882854	B	0.19583	0.037	B	0.19148	0.024	T	0.17258	-1.0375	9	.	.	.	.	18.8352	0.92159	0.0:1.0:0.0:0.0	.	400	Q2M1K9	ZN423_HUMAN	N	400;283	ENSP00000262383:D400N;ENSP00000442321:D283N	.	D	-	1	0	ZNF423	48229366	0.382000	0.25148	0.910000	0.35882	0.871000	0.50021	2.342000	0.43992	2.449000	0.82847	0.561000	0.74099	GAC		0.627	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1		NM_015069		37	54	0	0	0	0.069456	0	37	54		
CDH8	1006	broad.mit.edu	37	16	61935121	61935122	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr16:61935121_61935122CC>AA	ENST00000577390.1	-	3	1462_1463	c.508_509GG>TT	c.(508-510)GGa>TTa	p.G170L	CDH8_ENST00000584337.1_Missense_Mutation_p.G170L|CDH8_ENST00000577730.1_Missense_Mutation_p.G170L|CDH8_ENST00000299345.6_Missense_Mutation_p.G170L	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	170	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)	p.G170*(1)|p.G170V(1)|p.G170>?(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ATGATAGGGTCCATTAAGAAAC	0.401																																						uc002eog.1		NaN																	3	Substitution - Missense(1)|Substitution - Nonsense(1)|Complex(1)		urinary_tract(3)	ovary(6)|skin(2)|breast(1)	9						c.(508-510)GGA>TTA		cadherin 8, type 2 preproprotein																																				SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61935121_61935122CC>AA	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.508_509delinsAA	16.37:g.61935121_61935122delinsAA	ENSP00000462701:p.Gly170Leu						p.G170L	NM_001796	NP_001787	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	3	760_761	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	170			Extracellular (Potential).|Cadherin 2.		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	DNP	ENST00000577390.1	37	c.508_509GG>TT	CCDS10802.1																																																																																				0.401	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3		NM_001796		37	69	0	0	0	0.004672	0	37	69		
FOXC2	2303	broad.mit.edu	37	16	86601425	86601425	+	Silent	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr16:86601425C>T	ENST00000320354.4	+	1	569	c.484C>T	c.(484-486)Ctg>Ttg	p.L162L	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	162					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|embryonic viscerocranium morphogenesis (GO:0048703)|glomerular endothelium development (GO:0072011)|glomerular mesangial cell development (GO:0072144)|glomerular visceral epithelial cell differentiation (GO:0072112)|heart development (GO:0007507)|insulin receptor signaling pathway (GO:0008286)|lymphangiogenesis (GO:0001946)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|paraxial mesodermal cell fate commitment (GO:0048343)|patterning of blood vessels (GO:0001569)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular wound healing (GO:0035470)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|response to hormone (GO:0009725)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.L162L(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						CGGCAGCTTCCTGCGGCGCCG	0.667									Late-onset Hereditary Lymphedema																													uc002fjq.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(484-486)CTG>TTG		forkhead box C2							35.0	46.0	42.0					16																	86601425		2198	4300	6498	SO:0001819	synonymous_variant	2303	Late-onset_Hereditary_Lymphedema	Familial Cancer Database	Hereditary Lymphedema type II, Meige Lymphedema	anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr16:86601425C>T	Y08223	CCDS10958.1	16q24.1	2008-04-10			ENSG00000176692	ENSG00000176692		"""Forkhead boxes"""	3801	protein-coding gene	gene with protein product		602402		FKHL14		9169153, 8674414	Standard	NM_005251		Approved	MFH-1	uc002fjq.3	Q99958	OTTHUMG00000137652	ENST00000320354.4:c.484C>T	16.37:g.86601425C>T							p.L162L	NM_005251	NP_005242	Q99958	FOXC2_HUMAN			1	569	+			162			Fork-head.		C6KMR9|Q14DA6	Silent	SNP	ENST00000320354.4	37	c.484C>T	CCDS10958.1																																																																																				0.667	FOXC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269104.2		NM_005251		28	46	0	0	0	0.034045	0	28	46		
UNC45B	146862	broad.mit.edu	37	17	33479931	33479931	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr17:33479931C>T	ENST00000268876.5	+	5	498	c.401C>T	c.(400-402)aCa>aTa	p.T134I	UNC45B_ENST00000394570.2_Missense_Mutation_p.T134I|UNC45B_ENST00000378449.1_Missense_Mutation_p.T134I|UNC45B_ENST00000591048.1_Missense_Mutation_p.T134I|UNC45B_ENST00000433649.1_Missense_Mutation_p.T134I	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	134					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.T134I(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CAGTTCTCCACAGACTCGAGG	0.537																																						uc002hja.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|central_nervous_system(2)|breast(1)	6						c.(400-402)ACA>ATA		cardiomyopathy associated 4 isoform 1							150.0	152.0	151.0					17																	33479931		2203	4300	6503	SO:0001583	missense	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33479931C>T	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.401C>T	17.37:g.33479931C>T	ENSP00000268876:p.Thr134Ile					UNC45B_uc002hjb.2_Missense_Mutation_p.T134I|UNC45B_uc002hjc.2_Missense_Mutation_p.T134I|UNC45B_uc010cto.2_Missense_Mutation_p.T134I	p.T134I	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN			5	498	+		Ovarian(249;0.17)	134					Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	c.401C>T	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.467380	0.84533	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T;T	0.52295	0.67;3.1;0.67;3.08	5.3	5.3	0.74995	Armadillo-like helical (1);Armadillo-type fold (1);	1.636320	0.03699	N	0.248230	T	0.73024	0.3534	M	0.72118	2.19	0.80722	D	1	D;D;D	0.69078	0.997;0.991;0.997	D;D;D	0.68192	0.956;0.948;0.949	T	0.57165	-0.7858	10	0.49607	T	0.09	-14.7771	17.7043	0.88304	0.0:1.0:0.0:0.0	.	134;134;134	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	I	134	ENSP00000378071:T134I;ENSP00000268876:T134I;ENSP00000412840:T134I;ENSP00000367710:T134I	ENSP00000268876:T134I	T	+	2	0	UNC45B	30504044	1.000000	0.71417	0.990000	0.47175	0.951000	0.60555	5.924000	0.70054	2.765000	0.95021	0.650000	0.86243	ACA		0.537	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2		NM_173167		39	222	0	0	0	0.039052	0	39	222		
UNC45B	146862	broad.mit.edu	37	17	33496943	33496943	+	Missense_Mutation	SNP	T	T	G			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr17:33496943T>G	ENST00000268876.5	+	11	1637	c.1540T>G	c.(1540-1542)Tgt>Ggt	p.C514G	UNC45B_ENST00000394570.2_Missense_Mutation_p.C514G|UNC45B_ENST00000378449.1_Intron|UNC45B_ENST00000591048.1_Intron|RP11-799D4.3_ENST00000585646.1_RNA|UNC45B_ENST00000433649.1_Missense_Mutation_p.C514G	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	514					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.C514G(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GGCCAAACAGTGTCGCAAGTA	0.582																																						uc002hja.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|central_nervous_system(2)|breast(1)	6						c.(1540-1542)TGT>GGT		cardiomyopathy associated 4 isoform 1							88.0	77.0	81.0					17																	33496943		2203	4300	6503	SO:0001583	missense	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33496943T>G	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.1540T>G	17.37:g.33496943T>G	ENSP00000268876:p.Cys514Gly					UNC45B_uc002hjb.2_Missense_Mutation_p.C514G|UNC45B_uc002hjc.2_Missense_Mutation_p.C514G|UNC45B_uc010cto.2_Intron	p.C514G	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN			11	1637	+		Ovarian(249;0.17)	514					Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	c.1540T>G	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.548548	0.86127	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649	T;T;T	0.29917	1.55;3.57;1.55	5.0	5.0	0.66597	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.59985	0.2234	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74348	0.982;0.983	T	0.67681	-0.5608	10	0.72032	D	0.01	-8.2741	14.3367	0.66595	0.0:0.0:0.0:1.0	.	514;514	Q8IWX7-3;Q8IWX7	.;UN45B_HUMAN	G	514	ENSP00000378071:C514G;ENSP00000268876:C514G;ENSP00000412840:C514G	ENSP00000268876:C514G	C	+	1	0	UNC45B	30521056	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.825000	0.86693	2.235000	0.73313	0.533000	0.62120	TGT		0.582	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2		NM_173167		32	68	0	0	0	0.045705	0	32	68		
KRT13	3860	broad.mit.edu	37	17	39659035	39659035	+	Silent	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr17:39659035G>A	ENST00000246635.3	-	5	973	c.927C>T	c.(925-927)acC>acT	p.T309T	AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000587544.1_Silent_p.T309T|KRT13_ENST00000587118.1_5'Flank|KRT13_ENST00000336861.3_Silent_p.T309T	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	309	Coil 2.|Rod.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.T309T(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				TGGCAGTGTTGGTAGACACCT	0.567																																						uc002hwu.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|skin(2)|pancreas(1)	5						c.(925-927)ACC>ACT		keratin 13 isoform a							220.0	197.0	205.0					17																	39659035		2203	4300	6503	SO:0001819	synonymous_variant	3860				epidermis development	intermediate filament	structural molecule activity	g.chr17:39659035G>A		CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6415	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 13"", ""cytokeratin 13"""	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.927C>T	17.37:g.39659035G>A						KRT13_uc002hwv.1_Silent_p.T309T|KRT13_uc002hww.2_Silent_p.T202T|KRT13_uc010wfr.1_Silent_p.T202T|KRT13_uc010cxo.2_Silent_p.T309T|KRT13_uc002hwx.1_Silent_p.T297T	p.T309T	NM_153490	NP_705694	P13646	K1C13_HUMAN			5	990	-		Breast(137;0.000286)	309			Rod.|Coil 2.		Q53G54|Q6AZK5|Q8N240	Silent	SNP	ENST00000246635.3	37	c.927C>T	CCDS11396.1																																																																																				0.567	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1		NM_153490		65	258	0	0	0	0.048971	0	65	258		
STAT5B	6777	broad.mit.edu	37	17	40370182	40370182	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr17:40370182C>T	ENST00000293328.3	-	9	1324	c.1156G>A	c.(1156-1158)Gag>Aag	p.E386K		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	386					2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.E386K(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	CGGGTGTTCTCGTTCTTGAGC	0.547																																						uc002hzh.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|lung(2)|skin(1)	6						c.(1156-1158)GAG>AAG		signal transducer and activator of transcription	Dasatinib(DB01254)						113.0	89.0	98.0					17																	40370182		2203	4300	6503	SO:0001583	missense	6777				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity	g.chr17:40370182C>T	BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"""SH2 domain containing"""	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.1156G>A	17.37:g.40370182C>T	ENSP00000293328:p.Glu386Lys					STAT5B_uc002hzi.3_Missense_Mutation_p.E386K	p.E386K	NM_012448	NP_036580	P51692	STA5B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.135)	9	1325	-		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)	386					Q8WWS8	Missense_Mutation	SNP	ENST00000293328.3	37	c.1156G>A	CCDS11423.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.511911	0.85389	.	.	ENSG00000173757	ENST00000293328	D	0.87256	-2.23	5.41	5.41	0.78517	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.88599	0.6480	L	0.46614	1.455	0.80722	D	1	D;P	0.59767	0.986;0.921	P;P	0.51550	0.673;0.58	D	0.88492	0.3076	10	0.51188	T	0.08	-5.2015	19.3785	0.94521	0.0:1.0:0.0:0.0	.	386;386	Q8WW55;P51692	.;STA5B_HUMAN	K	386	ENSP00000293328:E386K	ENSP00000293328:E386K	E	-	1	0	STAT5B	37623708	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.550000	0.82173	2.815000	0.96918	0.561000	0.74099	GAG		0.547	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319797.1		NM_012448		17	26	0	0	0	0.0333	0	17	26		
ABCA8	10351	broad.mit.edu	37	17	66871845	66871845	+	Missense_Mutation	SNP	G	G	A	rs182925368		TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr17:66871845G>A	ENST00000269080.2	-	34	4417	c.4280C>T	c.(4279-4281)aCg>aTg	p.T1427M	ABCA8_ENST00000586539.1_Missense_Mutation_p.T1467M|ABCA8_ENST00000430352.2_Missense_Mutation_p.T1467M	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1427	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.T1427M(1)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					ACCCCTTTCCGTGTTTCTAAA	0.483													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18877	0.0		0.0	False		,,,				2504	0.0					uc002jhp.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(4279-4281)ACG>ATG		ATP-binding cassette, sub-family A member 8							77.0	61.0	66.0					17																	66871845		2203	4300	6503	SO:0001583	missense	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66871845G>A	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.4280C>T	17.37:g.66871845G>A	ENSP00000269080:p.Thr1427Met					ABCA8_uc002jhq.2_Missense_Mutation_p.T1467M|ABCA8_uc010wqq.1_Missense_Mutation_p.T1462M	p.T1427M	NM_007168	NP_009099	O94911	ABCA8_HUMAN			34	4459	-	Breast(10;4.56e-13)		1427			ABC transporter 2.		A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	c.4280C>T	CCDS11680.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	13.57	2.275542	0.40294	.	.	ENSG00000141338	ENST00000269080;ENST00000430352	D;D	0.95482	-3.72;-3.72	4.36	3.31	0.37934	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.377447	0.22622	N	0.057690	D	0.88789	0.6532	L	0.27053	0.805	0.29885	N	0.825709	P;P;P	0.47350	0.894;0.756;0.894	B;B;B	0.35278	0.199;0.14;0.097	D	0.86836	0.2014	10	0.56958	D	0.05	.	9.7548	0.40498	0.0:0.0:0.6391:0.3609	.	1467;1467;1427	A1L3U3;C9JQE6;O94911	.;.;ABCA8_HUMAN	M	1427;1467	ENSP00000269080:T1427M;ENSP00000402814:T1467M	ENSP00000269080:T1427M	T	-	2	0	ABCA8	64383440	0.975000	0.34042	0.990000	0.47175	0.885000	0.51271	1.822000	0.39052	2.441000	0.82636	0.650000	0.86243	ACG		0.483	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1		NM_007168		39	54	0	0	0	0.092188	0	39	54		
KCNJ2	3759	broad.mit.edu	37	17	68171213	68171213	+	Silent	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr17:68171213C>T	ENST00000243457.3	+	2	416	c.33C>T	c.(31-33)atC>atT	p.I11I	KCNJ2_ENST00000535240.1_Silent_p.I11I	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	11					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)	p.I11I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					GCTACAGCATCGTCTCTTCAG	0.512																																						uc010dfg.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(31-33)ATC>ATT		potassium inwardly-rectifying channel J2							65.0	62.0	63.0					17																	68171213		2203	4300	6503	SO:0001819	synonymous_variant	3759				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding	g.chr17:68171213C>T	AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.33C>T	17.37:g.68171213C>T						KCNJ2_uc002jir.2_Silent_p.I11I	p.I11I	NM_000891	NP_000882	P63252	IRK2_HUMAN			2	434	+	Breast(10;1.64e-08)		11			Cytoplasmic (By similarity).		O15110|P48049	Silent	SNP	ENST00000243457.3	37	c.33C>T	CCDS11688.1																																																																																				0.512	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450889.1		NM_000891		34	68	0	0	0	0.086207	0	34	68		
DTNA	1837	broad.mit.edu	37	18	32395882	32395882	+	Missense_Mutation	SNP	A	A	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr18:32395882A>T	ENST00000399113.3	+	6	613	c.613A>T	c.(613-615)Acg>Tcg	p.T205S	DTNA_ENST00000597599.1_Missense_Mutation_p.T205S|DTNA_ENST00000598334.1_Missense_Mutation_p.T205S|DTNA_ENST00000595022.1_Missense_Mutation_p.T205S|DTNA_ENST00000597674.1_5'Flank|DTNA_ENST00000601125.1_5'Flank|DTNA_ENST00000348997.5_Missense_Mutation_p.T205S|DTNA_ENST00000444659.1_Missense_Mutation_p.T205S|DTNA_ENST00000315456.6_Missense_Mutation_p.T205S|DTNA_ENST00000399097.3_De_novo_Start_InFrame|DTNA_ENST00000269190.7_Missense_Mutation_p.T205S|DTNA_ENST00000554864.3_Missense_Mutation_p.T205S|DTNA_ENST00000598142.1_Missense_Mutation_p.T205S|DTNA_ENST00000283365.9_Missense_Mutation_p.T205S|DTNA_ENST00000399121.5_Missense_Mutation_p.T205S|DTNA_ENST00000598774.1_Missense_Mutation_p.T205S|DTNA_ENST00000269192.7_5'Flank|DTNA_ENST00000269191.6_Missense_Mutation_p.T205S|DTNA_ENST00000556414.3_5'Flank|DTNA_ENST00000599844.1_5'Flank|DTNA_ENST00000591182.1_5'Flank|DTNA_ENST00000596745.1_Intron			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	205	Interaction with MAGEE1. {ECO:0000250}.				neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.T205S(5)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						GAAAAAAGTCACGTTAAATGG	0.398																																						uc010dmn.1		NaN																	5	Substitution - Missense(5)		urinary_tract(5)		0						c.(613-615)ACG>TCG		dystrobrevin alpha isoform 1							121.0	119.0	120.0					18																	32395882		2203	4300	6503	SO:0001583	missense	1837				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	g.chr18:32395882A>T	U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.613A>T	18.37:g.32395882A>T	ENSP00000382064:p.Thr205Ser					DTNA_uc002kxu.2_Missense_Mutation_p.T205S|DTNA_uc010xbx.1_Intron|DTNA_uc002kxv.3_Missense_Mutation_p.T205S|DTNA_uc002kxw.2_Missense_Mutation_p.T205S|DTNA_uc002kxx.2_Missense_Mutation_p.T205S|DTNA_uc010dmj.2_Missense_Mutation_p.T205S|DTNA_uc002kxz.2_Missense_Mutation_p.T205S|DTNA_uc002kxy.2_Missense_Mutation_p.T205S|DTNA_uc010dmk.1_RNA|DTNA_uc010dml.2_Missense_Mutation_p.T205S|DTNA_uc002kyb.3_Missense_Mutation_p.T205S|DTNA_uc010dmm.2_Missense_Mutation_p.T205S|DTNA_uc010xby.1_5'Flank|DTNA_uc010dmo.2_5'Flank|DTNA_uc002kyd.3_5'Flank|DTNA_uc010xbz.1_5'Flank|DTNA_uc010xca.1_5'Flank|DTNA_uc002kye.2_5'Flank	p.T205S	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN			6	614	+			205			Interaction with MAGEE1 (By similarity).		A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	ENST00000399113.3	37	c.613A>T	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	A	14.66	2.600872	0.46423	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000315456;ENST00000556176;ENST00000399114;ENST00000269190;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113	T;T;T;T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55	6.04	6.04	0.98038	EF-hand domain, type 2 (1);EF-hand-like domain (1);	0.053373	0.64402	D	0.000001	T	0.55862	0.1947	N	0.17248	0.465	0.51482	D	0.999927	B;B;B;B;B;B;B;B;B;B;B	0.19935	0.04;0.028;0.017;0.013;0.028;0.017;0.016;0.009;0.004;0.007;0.007	B;B;B;B;B;B;B;B;B;B;B	0.28849	0.095;0.021;0.05;0.03;0.01;0.05;0.05;0.034;0.009;0.007;0.02	T	0.53056	-0.8492	10	0.27785	T	0.31	-17.2561	10.8542	0.46789	0.9302:0.0:0.0698:0.0	.	205;205;205;205;205;205;216;205;205;205;205	Q9Y4J8;Q9Y4J8-3;A8K541;F5H5C1;Q9Y4J8-4;E9PEH8;Q59GK7;Q9BS59;Q9Y4J8-2;Q9Y4J8-5;Q9Y4J8-7	DTNA_HUMAN;.;.;.;.;.;.;.;.;.;.	S	205	ENSP00000283365:T205S;ENSP00000322519:T205S;ENSP00000269190:T205S;ENSP00000336682:T205S;ENSP00000382072:T205S;ENSP00000405819:T205S;ENSP00000269191:T205S;ENSP00000382064:T205S	ENSP00000269190:T205S	T	+	1	0	DTNA	30649880	0.997000	0.39634	0.998000	0.56505	0.981000	0.71138	4.027000	0.57239	2.317000	0.78254	0.460000	0.39030	ACG		0.398	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2		NM_001390		15	149	0	0	0	0.024245	0	15	149		
LINGO3	645191	broad.mit.edu	37	19	2290293	2290293	+	Silent	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr19:2290293G>A	ENST00000585527.1	-	1	1730	c.1483C>T	c.(1483-1485)Ctg>Ttg	p.L495L	LINGO3_ENST00000404279.1_Silent_p.L495L			P0C6S8	LIGO3_HUMAN	leucine rich repeat and Ig domain containing 3	495	Ig-like C2-type.					integral component of membrane (GO:0016021)		p.L495L(1)		lung(1)|urinary_tract(1)	2						CGCACGGTCAGCGTGGCGAAG	0.746																																						uc010dsx.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1483-1485)CTG>TTG		leucine rich repeat and Ig domain containing 3							7.0	9.0	8.0					19																	2290293		1886	3837	5723	SO:0001819	synonymous_variant	645191					integral to membrane		g.chr19:2290293G>A	AK091795	CCDS45905.1	19p13.3	2013-01-11	2007-02-01	2007-02-01		ENSG00000220008		"""Immunoglobulin superfamily / I-set domain containing"""	21206	protein-coding gene	gene with protein product		609792	"""leucine rich repeat neuronal 6B"""	LRRN6B		14686891	Standard	NM_001101391		Approved	LERN2	uc010dsx.1	P0C6S8		ENST00000585527.1:c.1483C>T	19.37:g.2290293G>A						SPPL2B_uc010dsw.1_Intron|uc002lvo.1_5'UTR	p.L495L	NM_001101391	NP_001094861	P0C6S8	LIGO3_HUMAN			2	1611	-			495			Extracellular (Potential).|Ig-like C2-type.			Silent	SNP	ENST00000585527.1	37	c.1483C>T	CCDS45905.1																																																																																				0.746	LINGO3-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451291.2		NM_001101391		6	15	0	0	0	0.021553	0	6	15		
TMPRSS9	360200	broad.mit.edu	37	19	2413950	2413950	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr19:2413950C>T	ENST00000332578.3	+	9	1405	c.1405C>T	c.(1405-1407)Ccc>Tcc	p.P469S		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	469					plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.P469S(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTCAGCACCCCCACCAAATC	0.607																																						uc010xgx.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(1405-1407)CCC>TCC		transmembrane protease, serine 9							28.0	30.0	29.0					19																	2413950		2203	4300	6503	SO:0001583	missense	360200				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr19:2413950C>T	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.1405C>T	19.37:g.2413950C>T	ENSP00000330264:p.Pro469Ser					TMPRSS9_uc002lvv.1_Missense_Mutation_p.P503S	p.P469S	NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1405	+			469			Extracellular (Potential).		Q6ZND6|Q7Z411	Missense_Mutation	SNP	ENST00000332578.3	37	c.1405C>T	CCDS12088.1	.	.	.	.	.	.	.	.	.	.	C	4.128	0.022041	0.08006	.	.	ENSG00000178297	ENST00000395264;ENST00000332578	D	0.87887	-2.31	4.04	-0.922	0.10468	.	1.128570	0.07045	U	0.830840	T	0.74696	0.3750	L	0.29908	0.895	0.09310	N	1	B;B	0.28233	0.204;0.01	B;B	0.24701	0.055;0.002	T	0.57814	-0.7746	10	0.14656	T	0.56	.	3.5019	0.07676	0.4403:0.2539:0.0:0.3058	.	469;503	Q7Z410;E7EMP4	TMPS9_HUMAN;.	S	503;469	ENSP00000330264:P469S	ENSP00000330264:P469S	P	+	1	0	TMPRSS9	2364950	0.008000	0.16893	0.000000	0.03702	0.013000	0.08279	1.567000	0.36407	-0.005000	0.14395	0.555000	0.69702	CCC		0.607	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3		NM_182973		4	27	0	0	0	0.009096	0	4	27		
LMNB2	84823	broad.mit.edu	37	19	2433947	2433947	+	Silent	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr19:2433947G>A	ENST00000582871.1	-	8	1385	c.1299C>T	c.(1297-1299)ggC>ggT	p.G433G	LMNB2_ENST00000475819.1_5'Flank|LMNB2_ENST00000325327.3_Silent_p.G453G	NM_032737.3	NP_116126.3	Q03252	LMNB2_HUMAN	lamin B2	433	Tail.			LEVEEPLGSGPSVLGTGTGGSGGFHLAQQASASGSVS -> WRWRSPWQRPKRPGHGHGWQRWLPPGPAGLGLGQRH (in Ref. 5; AAA80979). {ECO:0000305}.		lamin filament (GO:0005638)|nuclear inner membrane (GO:0005637)	structural molecule activity (GO:0005198)	p.G433G(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGTGCCCGTGCCCAGGACGC	0.711																																						uc002lvy.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	large_intestine(1)|ovary(1)	2						c.(1297-1299)GGC>GGT		lamin B2							30.0	31.0	30.0					19																	2433947		2197	4297	6494	SO:0001819	synonymous_variant	84823					nuclear inner membrane	structural molecule activity	g.chr19:2433947G>A	M94362	CCDS12090.1, CCDS12090.2	19p13.3	2013-01-16			ENSG00000176619	ENSG00000176619		"""Intermediate filaments type V, lamins"""	6638	protein-coding gene	gene with protein product		150341		LMN2		1630457	Standard	NM_032737		Approved		uc002lvy.4	Q03252	OTTHUMG00000150626	ENST00000582871.1:c.1299C>T	19.37:g.2433947G>A						LMNB2_uc002lwa.1_Silent_p.G453G	p.G433G	NM_032737	NP_116126	Q03252	LMNB2_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)	8	1386	-		Hepatocellular(1079;0.137)	433	LEVEEPLGSGPSVLGTGTGGSGGFHLAQQASASGSVS -> WRWRSPWQRPKRPGHGHGWQRWLPPGPAGLGLGQRH (in Ref. 5; AAA80979).		Tail.		O75292|Q14734|Q96DF6	Silent	SNP	ENST00000582871.1	37	c.1299C>T																																																																																					0.711	LMNB2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_032737		6	32	0	0	0	0.021553	0	6	32		
LMNB2	84823	broad.mit.edu	37	19	2433965	2433965	+	Silent	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr19:2433965G>A	ENST00000582871.1	-	8	1367	c.1281C>T	c.(1279-1281)agC>agT	p.S427S	LMNB2_ENST00000475819.1_5'Flank|LMNB2_ENST00000325327.3_Silent_p.S447S	NM_032737.3	NP_116126.3	Q03252	LMNB2_HUMAN	lamin B2	427	Tail.			LEVEEPLGSGPSVLGTGTGGSGGFHLAQQASASGSVS -> WRWRSPWQRPKRPGHGHGWQRWLPPGPAGLGLGQRH (in Ref. 5; AAA80979). {ECO:0000305}.		lamin filament (GO:0005638)|nuclear inner membrane (GO:0005637)	structural molecule activity (GO:0005198)	p.S427S(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCTTGGGCCGCTGCCCAAGG	0.716																																						uc002lvy.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	large_intestine(1)|ovary(1)	2						c.(1279-1281)AGC>AGT		lamin B2							22.0	23.0	22.0					19																	2433965		2193	4293	6486	SO:0001819	synonymous_variant	84823					nuclear inner membrane	structural molecule activity	g.chr19:2433965G>A	M94362	CCDS12090.1, CCDS12090.2	19p13.3	2013-01-16			ENSG00000176619	ENSG00000176619		"""Intermediate filaments type V, lamins"""	6638	protein-coding gene	gene with protein product		150341		LMN2		1630457	Standard	NM_032737		Approved		uc002lvy.4	Q03252	OTTHUMG00000150626	ENST00000582871.1:c.1281C>T	19.37:g.2433965G>A						LMNB2_uc002lwa.1_Silent_p.S447S	p.S427S	NM_032737	NP_116126	Q03252	LMNB2_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)	8	1368	-		Hepatocellular(1079;0.137)	427	LEVEEPLGSGPSVLGTGTGGSGGFHLAQQASASGSVS -> WRWRSPWQRPKRPGHGHGWQRWLPPGPAGLGLGQRH (in Ref. 5; AAA80979).		Tail.		O75292|Q14734|Q96DF6	Silent	SNP	ENST00000582871.1	37	c.1281C>T																																																																																					0.716	LMNB2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_032737		5	25	0	0	0	0.014758	0	5	25		
CACTIN	58509	broad.mit.edu	37	19	3623701	3623701	+	Silent	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr19:3623701G>A	ENST00000429344.2	-	2	679	c.627C>T	c.(625-627)acC>acT	p.T209T	CACTIN_ENST00000248420.5_Silent_p.T209T|CACTIN_ENST00000221899.3_Silent_p.T141T	NM_001080543.1	NP_001074012.1	Q8WUQ7	CATIN_HUMAN	cactin, spliceosome C complex subunit	209					cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.T209T(1)|p.T141T(1)									TCCAGATGAAGGTGCCCAGCA	0.592																																						uc002lyh.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)		0						c.(625-627)ACC>ACT		chromosome 19 open reading frame 29							37.0	44.0	42.0					19																	3623701		2026	4182	6208	SO:0001819	synonymous_variant	58509					catalytic step 2 spliceosome	protein binding	g.chr19:3623701G>A	BC019848	CCDS45920.1	19p13.3	2012-06-08	2012-06-08	2012-06-08	ENSG00000105298	ENSG00000105298			29938	protein-coding gene	gene with protein product	"""NY REN 24 antigen"", ""functional spliceosome-associated protein c"", ""cactin homolog (Drosophila)"""		"""chromosome 19 open reading frame 29"""	C19orf29		8619474, 9110174, 21429463, 20829348	Standard	NM_001080543		Approved	NY-REN-24, fSAPc, cactin	uc002lyh.3	Q8WUQ7		ENST00000429344.2:c.627C>T	19.37:g.3623701G>A						C19orf29_uc010dtn.2_5'Flank|C19orf29_uc002lyi.3_Silent_p.T209T|C19orf29_uc010dto.2_RNA	p.T209T	NM_001080543	NP_001074012	Q8WUQ7	CS029_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	2	680	-		Hepatocellular(1079;0.137)	209					A6NNA9|A9UL12|O75229|Q7LE08|Q9BTA6|Q9Y5A4	Silent	SNP	ENST00000429344.2	37	c.627C>T	CCDS45920.1																																																																																				0.592	CACTIN-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457370.2				3	24	0	0	0	0.004672	0	3	24		
MUC16	94025	broad.mit.edu	37	19	9067793	9067793	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr19:9067793C>G	ENST00000397910.4	-	3	19856	c.19653G>C	c.(19651-19653)aaG>aaC	p.K6551N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6553	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.K6551N(2)|p.K2184N(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TATCTGTGGTCTTCACTAGGC	0.483																																						uc002mkp.2		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(19651-19653)AAG>AAC		mucin 16							88.0	78.0	81.0					19																	9067793		1918	4121	6039	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9067793C>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.19653G>C	19.37:g.9067793C>G	ENSP00000381008:p.Lys6551Asn						p.K6551N	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	19857	-			6553			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.19653G>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	2.486	-0.318482	0.05386	.	.	ENSG00000181143	ENST00000397910	T	0.26223	1.75	1.47	0.198	0.15168	.	.	.	.	.	T	0.18593	0.0446	N	0.17082	0.46	.	.	.	D	0.62365	0.991	P	0.50136	0.632	T	0.22521	-1.0214	8	0.87932	D	0	.	4.4865	0.11792	0.381:0.619:0.0:0.0	.	6551	B5ME49	.	N	6551	ENSP00000381008:K6551N	ENSP00000381008:K6551N	K	-	3	2	MUC16	8928793	0.000000	0.05858	0.002000	0.10522	0.033000	0.12548	-1.377000	0.02558	0.128000	0.18479	0.177000	0.17058	AAG		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		24	52	0	0	0	0.076483	0	24	52		
ZNF490	57474	broad.mit.edu	37	19	12691722	12691722	+	Silent	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr19:12691722G>A	ENST00000311437.6	-	5	1289	c.1167C>T	c.(1165-1167)ccC>ccT	p.P389P	ZNF490_ENST00000465656.1_5'Flank|CTD-2192J16.20_ENST00000593682.1_Missense_Mutation_p.P23L	NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	389					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P389P(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						TACATTCATAGGGTTTTTCTC	0.393																																						uc002mtz.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1165-1167)CCC>CCT		zinc finger protein 490							95.0	95.0	95.0					19																	12691722		2203	4300	6503	SO:0001819	synonymous_variant	57474				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12691722G>A	AB033024	CCDS12272.1	19p13.2	2013-01-08			ENSG00000188033	ENSG00000188033		"""Zinc fingers, C2H2-type"", ""-"""	23705	protein-coding gene	gene with protein product							Standard	NM_020714		Approved	KIAA1198	uc002mtz.2	Q9ULM2	OTTHUMG00000156398	ENST00000311437.6:c.1167C>T	19.37:g.12691722G>A							p.P389P	NM_020714	NP_065765	Q9ULM2	ZN490_HUMAN			5	1296	-			389						Silent	SNP	ENST00000311437.6	37	c.1167C>T	CCDS12272.1																																																																																				0.393	ZNF490-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344073.1		NM_020714		22	132	0	0	0	0.076483	0	22	132		
NANOS3	342977	broad.mit.edu	37	19	13988556	13988556	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr19:13988556G>T	ENST00000397555.2	+	2	437	c.437G>T	c.(436-438)cGc>cTc	p.R146L	MIR181C_ENST00000384881.1_RNA|MIR181D_ENST00000384853.1_RNA|NANOS3_ENST00000339133.5_Missense_Mutation_p.R165L|NANOS3_ENST00000591727.1_Intron	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	nanos homolog 3 (Drosophila)	146					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.R165L(1)		breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			ACAGGCCACCGCCGAGGAGGA	0.652																																						uc002mxj.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(493-495)CGC>CTC		nanos homolog 3							6.0	7.0	7.0					19																	13988556		1932	4000	5932	SO:0001583	missense	342977				anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding	g.chr19:13988556G>T	BM702754	CCDS42511.1	19p13.13	2003-12-01				ENSG00000187556			22048	protein-coding gene	gene with protein product		608229					Standard	NM_001098622		Approved	NANOS1L, NOS3	uc002mxj.4	P60323		ENST00000397555.2:c.437G>T	19.37:g.13988556G>T	ENSP00000380687:p.Arg146Leu						p.R165L	NM_001098622	NP_001092092	P60323	NANO3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2e-21)		1	607	+			146					Q495E5	Missense_Mutation	SNP	ENST00000397555.2	37	c.494G>T		.	.	.	.	.	.	.	.	.	.	G	18.45	3.625806	0.66901	.	.	ENSG00000187556	ENST00000339133;ENST00000397555	T;T	0.56941	0.43;0.59	4.15	1.95	0.26073	.	0.473452	0.19662	N	0.108945	T	0.34716	0.0907	.	.	.	0.25554	N	0.987058	P	0.37176	0.586	B	0.35688	0.208	T	0.11251	-1.0595	9	0.31617	T	0.26	-4.7877	5.6572	0.17648	0.2634:0.0:0.7366:0.0	.	165	P60323-2	.	L	165;146	ENSP00000341992:R165L;ENSP00000380687:R146L	ENSP00000341992:R165L	R	+	2	0	NANOS3	13849556	0.035000	0.19736	0.564000	0.28396	0.727000	0.41649	2.080000	0.41586	0.644000	0.30656	0.655000	0.94253	CGC		0.652	NANOS3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			XM_292819		8	4	1	0	1.06961e-07	0.038147	1.11657e-07	8	4		
RYR1	6261	broad.mit.edu	37	19	38931454	38931454	+	Missense_Mutation	SNP	G	G	A	rs539201276		TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr19:38931454G>A	ENST00000359596.3	+	2	115	c.115G>A	c.(115-117)Gag>Aag	p.E39K	RYR1_ENST00000355481.4_Missense_Mutation_p.E39K|RYR1_ENST00000360985.3_Missense_Mutation_p.E39K			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	39					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.E39K(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CCTGGCCGCCGAGGGCTTCGG	0.682													G|||	1	0.000199681	0.0	0.0	5008	,	,		10306	0.001		0.0	False		,,,				2504	0.0					uc002oit.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(115-117)GAG>AAG		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						16.0	17.0	17.0					19																	38931454		2198	4288	6486	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38931454G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.115G>A	19.37:g.38931454G>A	ENSP00000352608:p.Glu39Lys					RYR1_uc002oiu.2_Missense_Mutation_p.E39K	p.E39K	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		2	245	+	all_cancers(60;7.91e-06)		39			Cytoplasmic.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.115G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	g	13.52	2.262801	0.39995	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.98437	-4.93;-4.93;-4.93	4.87	4.87	0.63330	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);	0.000000	0.64402	U	0.000002	D	0.98560	0.9519	M	0.63428	1.95	0.51012	D	0.999902	D;D	0.89917	1.0;1.0	D;D	0.91635	0.985;0.999	D	0.99795	1.1033	10	0.72032	D	0.01	.	15.5131	0.75798	0.0:0.0:1.0:0.0	.	39;39	P21817-2;P21817	.;RYR1_HUMAN	K	39	ENSP00000352608:E39K;ENSP00000347667:E39K;ENSP00000354254:E39K	ENSP00000347667:E39K	E	+	1	0	RYR1	43623294	1.000000	0.71417	0.989000	0.46669	0.102000	0.19082	9.329000	0.96413	2.257000	0.74773	0.556000	0.70494	GAG		0.682	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1				7	27	0	0	0	0.038147	0	7	27		
ZNF845	91664	broad.mit.edu	37	19	53854662	53854662	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr19:53854662G>A	ENST00000595091.1	+	5	953	c.734G>A	c.(733-735)tGt>tAt	p.C245Y	ZNF845_ENST00000458035.1_Missense_Mutation_p.C245Y			Q96IR2	ZN845_HUMAN	zinc finger protein 845	245					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C245Y(1)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						CAATATAAATGTGATGTGTGT	0.368																																						uc010ydv.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(733-735)TGT>TAT		zinc finger protein 845							108.0	89.0	95.0					19																	53854662		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53854662G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.734G>A	19.37:g.53854662G>A	ENSP00000470005:p.Cys245Tyr					ZNF845_uc010ydw.1_Missense_Mutation_p.C245Y	p.C245Y	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN			4	851	+			245			C2H2-type 2.			Missense_Mutation	SNP	ENST00000595091.1	37	c.734G>A	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.456549	0.43634	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	D	0.85088	-1.94	1.91	0.834	0.18880	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.92799	0.7710	M	0.93550	3.43	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.81890	-0.0725	9	0.66056	D	0.02	.	7.6788	0.28500	0.1612:0.0:0.8388:0.0	.	245	Q96IR2	ZN845_HUMAN	Y	245	ENSP00000388311:C245Y	ENSP00000412086:C245Y	C	+	2	0	ZNF845	58546474	0.784000	0.28713	0.169000	0.22859	0.217000	0.24651	2.979000	0.49313	1.045000	0.40225	0.205000	0.17691	TGT		0.368	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1		XM_039908		29	44	0	0	0	0.108266	0	29	44		
ZNF606	80095	broad.mit.edu	37	19	58491249	58491249	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr19:58491249C>T	ENST00000341164.4	-	7	1419	c.799G>A	c.(799-801)Gac>Aac	p.D267N	ZNF606_ENST00000536132.1_Missense_Mutation_p.D177N	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	267					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D267N(2)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		ACAGTTTTGTCATAATCATTA	0.338																																						uc002qqw.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(799-801)GAC>AAC		zinc finger protein 606							88.0	88.0	88.0					19																	58491249		2203	4300	6503	SO:0001583	missense	80095				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58491249C>T	AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"""Zinc fingers, C2H2-type"", ""-"""	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.799G>A	19.37:g.58491249C>T	ENSP00000343617:p.Asp267Asn					ZNF606_uc010yhp.1_Missense_Mutation_p.D177N	p.D267N	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)	7	1417	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	267					A8KAN2|Q8NE04|Q96JH5	Missense_Mutation	SNP	ENST00000341164.4	37	c.799G>A	CCDS12968.1	.	.	.	.	.	.	.	.	.	.	C	0.314	-0.966238	0.02232	.	.	ENSG00000166704	ENST00000341164;ENST00000536132;ENST00000551380	T;T;T	0.07216	3.36;3.21;3.78	4.19	2.02	0.26589	.	0.742703	0.11505	N	0.557282	T	0.04092	0.0114	N	0.04880	-0.145	0.21782	N	0.999542	B	0.02656	0.0	B	0.01281	0.0	T	0.39482	-0.9612	10	0.46703	T	0.11	.	6.146	0.20287	0.0:0.6656:0.1552:0.1791	.	267	Q8WXB4	ZN606_HUMAN	N	267;177;267	ENSP00000343617:D267N;ENSP00000445624:D177N;ENSP00000446972:D267N	ENSP00000343617:D267N	D	-	1	0	ZNF606	63183061	0.946000	0.32159	0.554000	0.28268	0.291000	0.27294	0.813000	0.27225	0.694000	0.31654	0.655000	0.94253	GAC		0.338	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1		NM_025027		135	170	0	0	0	0.048971	0	135	170		
RPS7	6201	broad.mit.edu	37	2	3627748	3627748	+	Silent	SNP	C	C	T	rs149082052		TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr2:3627748C>T	ENST00000304921.5	+	6	569	c.405C>T	c.(403-405)ttC>ttT	p.F135F	SNORA73_ENST00000516722.1_RNA|RPS7_ENST00000406376.1_Silent_p.F135F|RPS7_ENST00000407445.3_Silent_p.F135F|RPS7_ENST00000403564.1_Silent_p.F135F	NM_001011.3	NP_001002.1	P62081	RS7_HUMAN	ribosomal protein S7	135					cellular protein metabolic process (GO:0044267)|cytoplasmic translation (GO:0002181)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|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)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.F135F(1)		endometrium(1)|lung(2)|urinary_tract(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0963)|Epithelial(75;0.208)		ACTTGGTCTTCCCAAGCGAAA	0.493																																						uc002qxw.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(403-405)TTC>TTT		ribosomal protein S7		C		1,4405	2.1+/-5.4	0,1,2202	147.0	148.0	147.0		405	3.7	1.0	2	dbSNP_134	147	0,8596		0,0,4298	no	coding-synonymous	RPS7	NM_001011.3		0,1,6500	TT,TC,CC		0.0,0.0227,0.0077		135/195	3627748	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	6201				endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleolus|small-subunit processome	protein binding|RNA binding|structural constituent of ribosome	g.chr2:3627748C>T		CCDS1648.1	2p25	2011-04-05			ENSG00000171863	ENSG00000171863		"""S ribosomal proteins"""	10440	protein-coding gene	gene with protein product		603658				8522193, 10625621	Standard	NM_001011		Approved	S7	uc002qxw.3	P62081	OTTHUMG00000090305	ENST00000304921.5:c.405C>T	2.37:g.3627748C>T						RPS7_uc002qxy.2_RNA	p.F135F	NM_001011	NP_001002	P62081	RS7_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.0963)|Epithelial(75;0.208)	6	511	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		135					P23821|P24818|Q57Z92|Q6IPH1	Silent	SNP	ENST00000304921.5	37	c.405C>T	CCDS1648.1																																																																																				0.493	RPS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206667.1		NM_001011		67	94	0	0	0	0.048971	0	67	94		
GTF3C2	2976	broad.mit.edu	37	2	27551030	27551030	+	Silent	SNP	C	C	T	rs375864086		TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr2:27551030C>T	ENST00000359541.2	-	17	2712	c.2283G>A	c.(2281-2283)ccG>ccA	p.P761P	MPV17_ENST00000357186.6_5'Flank|GTF3C2_ENST00000264720.3_Silent_p.P761P			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	761					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)		p.P761P(2)		central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTCCTGATACGGTATCAGAT	0.443																																						uc002rjv.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(1)|large_intestine(1)	ovary(1)|skin(1)	2						c.(2281-2283)CCG>CCA		general transcription factor IIIC, polypeptide		C	,	0,4406		0,0,2203	78.0	75.0	76.0		2283,2283	-10.7	0.9	2		76	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	GTF3C2	NM_001035521.1,NM_001521.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	761/912,761/912	27551030	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2976					transcription factor TFIIIC complex		g.chr2:27551030C>T	D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"""General transcription factors"", ""WD repeat domain containing"""	4665	protein-coding gene	gene with protein product		604883	"""general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"""			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.2283G>A	2.37:g.27551030C>T						MPV17_uc002rjt.2_5'Flank|GTF3C2_uc010eyy.1_Silent_p.P216P|GTF3C2_uc002rju.1_Silent_p.P772P|GTF3C2_uc002rjw.1_Silent_p.P761P	p.P761P	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN			18	2646	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		761					D6W557|Q16632|Q9BWI7	Silent	SNP	ENST00000359541.2	37	c.2283G>A	CCDS1749.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.087|7.087	0.571360|0.571360	0.13623|0.13623	0.0|0.0	1.16E-4|1.16E-4	ENSG00000115207|ENSG00000115207	ENST00000454704;ENST00000415683|ENST00000457098	.|.	.|.	.|.	5.34|5.34	-10.7|-10.7	0.00240|0.00240	.|.	.|.	.|.	.|.	.|.	T|T	0.35038|0.35038	0.0918|0.0918	.|.	.|.	.|.	0.54753|0.54753	D|D	0.999981|0.999981	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.45833|0.45833	-0.9234|-0.9234	4|4	.|.	.|.	.|.	-9.9413|-9.9413	4.145|4.145	0.10212|0.10212	0.0917:0.3422:0.3643:0.2018|0.0917:0.3422:0.3643:0.2018	.|.	.|.	.|.	.|.	H|I	270;184|55	.|.	.|.	R|V	-|-	2|1	0|0	GTF3C2|GTF3C2	27404534|27404534	0.147000|0.147000	0.22687|0.22687	0.866000|0.866000	0.34008|0.34008	0.955000|0.955000	0.61496|0.61496	-1.304000|-1.304000	0.02741|0.02741	-1.458000|-1.458000	0.01916|0.01916	-1.114000|-1.114000	0.02060|0.02060	CGT|GTA		0.443	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215028.2				28	53	0	0	0	0.054565	0	28	53		
C2orf40	84417	broad.mit.edu	37	2	106694282	106694282	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr2:106694282G>A	ENST00000238044.3	+	4	456	c.347G>A	c.(346-348)gGc>gAc	p.G116D	C2orf40_ENST00000409944.1_Missense_Mutation_p.G80D	NM_032411.2	NP_115787.1	Q9H1Z8	AUGN_HUMAN	chromosome 2 open reading frame 40	116					cellular senescence (GO:0090398)|cyclin catabolic process (GO:0008054)|G1 to G0 transition (GO:0070314)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)		p.G116D(1)		lung(7)|urinary_tract(1)	8						GAATACTATGGCGATTACTAC	0.433																																						uc010fjf.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(346-348)GGC>GAC		esophageal cancer related gene 4 protein							169.0	149.0	156.0					2																	106694282		2203	4300	6503	SO:0001583	missense	84417					extracellular region|transport vesicle		g.chr2:106694282G>A	BC021742	CCDS2072.1	2q12.2	2014-01-28			ENSG00000119147	ENSG00000119147			24642	protein-coding gene	gene with protein product	"""esophageal cancer related gene 4 protein"""	611752				12800218	Standard	NM_032411		Approved	ECRG4, augurin	uc010fjf.3	Q9H1Z8	OTTHUMG00000130921	ENST00000238044.3:c.347G>A	2.37:g.106694282G>A	ENSP00000238044:p.Gly116Asp						p.G116D	NM_032411	NP_115787	Q9H1Z8	AUGN_HUMAN			4	455	+			116					D3DVK2	Missense_Mutation	SNP	ENST00000238044.3	37	c.347G>A	CCDS2072.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.249124	0.39797	.	.	ENSG00000119147	ENST00000409944;ENST00000238044;ENST00000437659	T;T;T	0.62639	0.28;0.13;0.01	4.09	4.09	0.47781	.	0.000000	0.53938	D	0.000059	T	0.71576	0.3356	L	0.47716	1.5	0.52099	D	0.999943	D	0.71674	0.998	D	0.66351	0.943	T	0.72350	-0.4320	10	0.40728	T	0.16	-16.5127	16.2987	0.82793	0.0:0.0:1.0:0.0	.	116	Q9H1Z8	AUGN_HUMAN	D	80;116;118	ENSP00000386421:G80D;ENSP00000238044:G116D;ENSP00000388664:G118D	ENSP00000238044:G116D	G	+	2	0	C2orf40	106060714	0.994000	0.37717	0.614000	0.29051	0.704000	0.40688	3.396000	0.52565	1.786000	0.52430	0.655000	0.94253	GGC		0.433	C2orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253515.2		NM_032411		40	64	0	0	0	0.09836	0	40	64		
CXCR4	7852	broad.mit.edu	37	2	136872564	136872564	+	Missense_Mutation	SNP	A	A	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr2:136872564A>C	ENST00000241393.3	-	2	1038	c.934T>G	c.(934-936)Tct>Gct	p.S312A	CXCR4_ENST00000466288.1_5'UTR|CXCR4_ENST00000409817.1_Missense_Mutation_p.S316A	NM_003467.2	NP_003458.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	312					activation of MAPK activity (GO:0000187)|ameboidal cell migration (GO:0001667)|apoptotic process (GO:0006915)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular response to cytokine stimulus (GO:0071345)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|inflammatory response (GO:0006954)|motor neuron axon guidance (GO:0008045)|myelin maintenance (GO:0043217)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|neutrophil activation (GO:0042119)|patterning of blood vessels (GO:0001569)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of chemotaxis (GO:0050920)|response to hypoxia (GO:0001666)|response to virus (GO:0009615)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)|myosin light chain binding (GO:0032027)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)	p.S316A(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)|Plerixafor(DB06809)	TGCTGGGCAGAGGTTTTAAAT	0.512																																						uc002tuz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)	3						c.(934-936)TCT>GCT		chemokine (C-X-C motif) receptor 4 isoform b	Framycetin(DB00452)						434.0	413.0	420.0					2																	136872564		2203	4300	6503	SO:0001583	missense	7852				activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding	g.chr2:136872564A>C	AF005058	CCDS33295.1, CCDS46420.1	2q21	2014-09-17	2002-08-22		ENSG00000121966	ENSG00000121966		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	2561	protein-coding gene	gene with protein product		162643	"""chemokine (C-X-C motif), receptor 4 (fusin)"""			9599023, 9379028	Standard	NM_001008540		Approved	LESTR, NPY3R, HM89, NPYY3R, D2S201E, fusin, HSY3RR, NPYR, CD184	uc002tuz.3	P61073	OTTHUMG00000153583	ENST00000241393.3:c.934T>G	2.37:g.136872564A>C	ENSP00000241393:p.Ser312Ala					CXCR4_uc002tuy.2_Missense_Mutation_p.S316A|CXCR4_uc010fnk.2_Missense_Mutation_p.S297A	p.S312A	NM_003467	NP_003458	P61073	CXCR4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.155)	2	1029	-			312			Cytoplasmic.		B2R5N0|O60835|P30991|P56438|Q53S69|Q9BXA0|Q9UKN2	Missense_Mutation	SNP	ENST00000241393.3	37	c.934T>G	CCDS46420.1	.	.	.	.	.	.	.	.	.	.	A	14.31	2.498061	0.44455	.	.	ENSG00000121966	ENST00000409817;ENST00000241393;ENST00000537957	T;T	0.30182	1.54;1.54	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.23766	0.0575	N	0.14661	0.345	0.80722	D	1	B;P	0.41232	0.097;0.743	B;B	0.43386	0.094;0.418	T	0.05852	-1.0860	10	0.15499	T	0.54	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	312;316	P61073;P61073-2	CXCR4_HUMAN;.	A	316;312;182	ENSP00000386884:S316A;ENSP00000241393:S312A	ENSP00000241393:S312A	S	-	1	0	CXCR4	136589034	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.894000	0.75655	2.367000	0.80283	0.528000	0.53228	TCT		0.512	CXCR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331732.1				340	531	0	0	0	0.048971	0	340	531		
THSD7B	80731	broad.mit.edu	37	2	138414424	138414424	+	Silent	SNP	T	T	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr2:138414424T>C	ENST00000409968.1	+	23	4342	c.4164T>C	c.(4162-4164)gaT>gaC	p.D1388D	THSD7B_ENST00000272643.3_Silent_p.D1391D|THSD7B_ENST00000413152.2_Silent_p.D1360D|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1390	TSP type-1 18. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)		p.D1391D(1)|p.D1360D(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCTGCATTGATGGAAGAAGCT	0.453																																						uc002tva.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(4075-4077)GAT>GAC		thrombospondin, type I, domain containing 7B							66.0	67.0	67.0					2																	138414424		1936	4129	6065	SO:0001819	synonymous_variant	80731							g.chr2:138414424T>C			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.4164T>C	2.37:g.138414424T>C						THSD7B_uc010zbj.1_Intron	p.D1359D	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	22	4077	+									Silent	SNP	ENST00000409968.1	37	c.4077T>C																																																																																					0.453	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2		XM_046570.9		24	38	0	0	0	0.069288	0	24	38		
LRP1B	53353	broad.mit.edu	37	2	141283905	141283905	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr2:141283905T>C	ENST00000389484.3	-	48	8748	c.7777A>G	c.(7777-7779)Acg>Gcg	p.T2593A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2593	LDL-receptor class A 13. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.T2593A(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AACTCAACCGTGGCACAGGTT	0.388										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(7777-7779)ACG>GCG		low density lipoprotein-related protein 1B							101.0	88.0	92.0					2																	141283905		2203	4299	6502	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141283905T>C	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.7777A>G	2.37:g.141283905T>C	ENSP00000374135:p.Thr2593Ala	TSP Lung(27;0.18)					p.T2593A	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)	48	8749	-		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)	2593			Extracellular (Potential).|LDL-receptor class A 13.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.7777A>G	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	1.593	-0.528613	0.04112	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.94966	-3.57	5.08	-1.33	0.09172	.	0.431178	0.23185	N	0.050969	T	0.73313	0.3571	N	0.01015	-1.05	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.70000	-0.4992	10	0.06099	T	0.92	.	1.8442	0.03156	0.3275:0.1132:0.0968:0.4625	.	2593	Q9NZR2	LRP1B_HUMAN	A	2593;2531	ENSP00000374135:T2593A	ENSP00000374135:T2593A	T	-	1	0	LRP1B	141000375	0.000000	0.05858	0.524000	0.27887	0.854000	0.48673	-0.317000	0.08060	-0.345000	0.08325	0.528000	0.53228	ACG		0.388	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2		NM_018557		29	42	0	0	0	0.037714	0	29	42		
TTN	7273	broad.mit.edu	37	2	179472164	179472164	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr2:179472164C>T	ENST00000591111.1	-	227	48552	c.48328G>A	c.(48328-48330)Ggt>Agt	p.G16110S	TTN_ENST00000359218.5_Missense_Mutation_p.G8811S|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G8878S|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G8686S|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G17751S|TTN_ENST00000342992.6_Missense_Mutation_p.G15183S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16110	Ig-like 99.				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)	p.G15183S(2)|p.G8811S(1)|p.G8878S(1)|p.G8686S(1)		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)			AATTTGGAACCACAGCTATTT	0.378																																						uc010zfg.1		NaN																	5	Substitution - Missense(5)		urinary_tract(5)	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.(45547-45549)GGT>AGT		titin isoform N2-A							220.0	208.0	212.0					2																	179472164		1887	4109	5996	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179472164C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.48328G>A	2.37:g.179472164C>T	ENSP00000465570:p.Gly16110Ser					uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G8878S|TTN_uc010zfi.1_Missense_Mutation_p.G8811S|TTN_uc010zfj.1_Missense_Mutation_p.G8686S	p.G15183S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		226	45771	-			16110					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.45547G>A		.	.	.	.	.	.	.	.	.	.	C	16.04	3.009263	0.54361	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83	5.99	5.99	0.97316	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.89972	0.6870	M	0.91249	3.19	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.91003	0.4844	9	0.87932	D	0	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	8686;8811;8878;16110	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	15183;8686;8878;8811;8686	ENSP00000343764:G15183S;ENSP00000434586:G8686S;ENSP00000340554:G8878S;ENSP00000352154:G8811S	ENSP00000340554:G8878S	G	-	1	0	TTN	179180409	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.319000	0.79040	2.840000	0.97914	0.655000	0.94253	GGT		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		81	129	0	0	0	0.048971	0	81	129		
TTN	7273	broad.mit.edu	37	2	179583684	179583684	+	Missense_Mutation	SNP	T	T	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr2:179583684T>A	ENST00000591111.1	-	82	23516	c.23292A>T	c.(23290-23292)gaA>gaT	p.E7764D	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.E8081D|TTN_ENST00000342992.6_Missense_Mutation_p.E6837D|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13302	Ig-like 60.				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)	p.E6837D(1)		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)			CAGGGGTTTGTTCAAAAGATG	0.448																																						uc010zfg.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(20509-20511)GAA>GAT		titin isoform N2-A							58.0	54.0	55.0					2																	179583684		1870	4115	5985	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179583684T>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.23292A>T	2.37:g.179583684T>A	ENSP00000465570:p.Glu7764Asp					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E3498D	p.E6837D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		81	20735	-			7764					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.20511A>T		.	.	.	.	.	.	.	.	.	.	T	10.30	1.310894	0.23821	.	.	ENSG00000155657	ENST00000342992	T	0.41400	1.0	5.71	3.29	0.37713	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.31009	0.0783	L	0.37697	1.125	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.16158	-1.0412	9	0.87932	D	0	.	7.2936	0.26380	0.0:0.2562:0.0:0.7438	.	7764	Q8WZ42	TITIN_HUMAN	D	6837	ENSP00000343764:E6837D	ENSP00000343764:E6837D	E	-	3	2	TTN	179291929	0.921000	0.31238	1.000000	0.80357	0.824000	0.46624	0.563000	0.23547	1.066000	0.40716	0.528000	0.53228	GAA		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		10	11	0	0	0	0.080935	0	10	11		
ABCA12	26154	broad.mit.edu	37	2	215854127	215854127	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr2:215854127C>T	ENST00000272895.7	-	26	3974	c.3755G>A	c.(3754-3756)tGg>tAg	p.W1252*	ABCA12_ENST00000389661.4_Nonsense_Mutation_p.W934*	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1252					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.W1252*(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ACAGCACAGCCAGCCAAATGA	0.428																																					Ovarian(66;664 1488 5121 34295)	uc002vew.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11						c.(3754-3756)TGG>TAG		ATP-binding cassette, sub-family A, member 12							104.0	102.0	102.0					2																	215854127		2203	4300	6503	SO:0001587	stop_gained	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215854127C>T	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.3755G>A	2.37:g.215854127C>T	ENSP00000272895:p.Trp1252*					ABCA12_uc002vev.2_Nonsense_Mutation_p.W934*|ABCA12_uc010zjn.1_Nonsense_Mutation_p.W179*	p.W1252*	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	26	3975	-		Renal(323;0.127)	1252			Helical; (Potential).		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Nonsense_Mutation	SNP	ENST00000272895.7	37	c.3755G>A	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	42	9.704437	0.99242	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	.	.	.	5.31	5.31	0.75309	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3349	0.94312	0.0:1.0:0.0:0.0	.	.	.	.	X	1252;934	.	ENSP00000272895:W1252X	W	-	2	0	ABCA12	215562372	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.972000	0.56838	2.656000	0.90262	0.591000	0.81541	TGG		0.428	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1		NM_173076		39	65	0	0	0	0.092188	0	39	65		
DHX35	60625	broad.mit.edu	37	20	37662873	37662873	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr20:37662873G>T	ENST00000252011.3	+	21	2013	c.1980G>T	c.(1978-1980)caG>caT	p.Q660H	DHX35_ENST00000373323.4_Missense_Mutation_p.Q629H|DHX35_ENST00000373325.2_Missense_Mutation_p.Q636H	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	660					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)	p.Q660H(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				AAGTTATACAGACCTCCAAGT	0.448																																						uc002xjh.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(1)|kidney(1)|skin(1)	3						c.(1978-1980)CAG>CAT		DEAH (Asp-Glu-Ala-His) box polypeptide 35							109.0	101.0	104.0					20																	37662873		2203	4300	6503	SO:0001583	missense	60625					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr20:37662873G>T	AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"""DEAH-boxes"""	15861	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"""	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.1980G>T	20.37:g.37662873G>T	ENSP00000252011:p.Gln660His					DHX35_uc010zwa.1_Missense_Mutation_p.Q505H|DHX35_uc010zwb.1_Missense_Mutation_p.Q505H|DHX35_uc010zwc.1_Missense_Mutation_p.Q629H	p.Q660H	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN			21	1991	+		Myeloproliferative disorder(115;0.00878)	660					A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Missense_Mutation	SNP	ENST00000252011.3	37	c.1980G>T	CCDS13310.1	.	.	.	.	.	.	.	.	.	.	g	13.07	2.126490	0.37533	.	.	ENSG00000101452	ENST00000373325;ENST00000252011;ENST00000373323;ENST00000373321;ENST00000449559	T;T;T;T	0.31247	4.15;4.17;4.09;1.5	5.82	-11.6	0.00059	Domain of unknown function DUF1605 (1);	0.000000	0.85682	D	0.000000	T	0.22166	0.0534	L	0.28649	0.875	0.50039	D	0.999847	B;B	0.15930	0.005;0.015	B;B	0.19946	0.009;0.027	T	0.50725	-0.8794	10	0.87932	D	0	.	24.7169	0.99991	0.2234:0.0:0.7766:0.0	.	629;660	F5GXM6;Q9H5Z1	.;DHX35_HUMAN	H	636;660;629;140;124	ENSP00000362422:Q636H;ENSP00000252011:Q660H;ENSP00000362420:Q629H;ENSP00000397997:Q124H	ENSP00000252011:Q660H	Q	+	3	2	DHX35	37096287	0.994000	0.37717	0.067000	0.19924	0.944000	0.59088	0.198000	0.17217	-3.180000	0.00222	-2.135000	0.00341	CAG		0.448	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2		NM_021931		23	82	1	0	3.7963e-18	0.083992	4.18768e-18	23	82		
ELMO2	63916	broad.mit.edu	37	20	45022241	45022241	+	Splice_Site	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr20:45022241C>T	ENST00000290246.6	-	5	314		c.e5-1		ELMO2_ENST00000396391.1_Splice_Site|ELMO2_ENST00000372176.1_Splice_Site|ELMO2_ENST00000488853.1_Splice_Site|ELMO2_ENST00000439931.2_Splice_Site|ELMO2_ENST00000352077.2_Splice_Site|ELMO2_ENST00000445496.2_Splice_Site	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2						apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)	p.?(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				CAACGACCACCTATGCAAGAG	0.453																																						uc002xrt.1		NaN																	1	Unknown(1)		urinary_tract(1)	ovary(1)	1						c.e5-1		engulfment and cell motility 2							151.0	143.0	145.0					20																	45022241		2203	4300	6503	SO:0001630	splice_region_variant	63916				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding	g.chr20:45022241C>T	AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"""Engulfment and cell motility proteins"""	17233	protein-coding gene	gene with protein product		606421	"""engulfment and cell motility 2 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.120-1G>A	20.37:g.45022241C>T						ELMO2_uc002xru.1_Splice_Site_p.G40_splice|ELMO2_uc010zxr.1_Splice_Site_p.G40_splice|ELMO2_uc010zxs.1_Splice_Site|ELMO2_uc002xrx.1_Splice_Site_p.G40_splice	p.G40_splice	NM_133171	NP_573403	Q96JJ3	ELMO2_HUMAN			5	330	-		Myeloproliferative disorder(115;0.0122)						E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Splice_Site	SNP	ENST00000290246.6	37	c.120_splice	CCDS13398.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.247288	0.59103	.	.	ENSG00000062598	ENST00000290246;ENST00000396391;ENST00000439931;ENST00000352077;ENST00000450812	.	.	.	4.56	3.6	0.41247	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7238	0.62745	0.0:0.8447:0.1553:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ELMO2	44455648	1.000000	0.71417	0.995000	0.50966	0.821000	0.46438	7.507000	0.81676	1.123000	0.41961	0.491000	0.48974	.		0.453	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080466.1		NM_022086	Intron	96	195	0	0	0	0.048971	0	96	195		
ZNF831	128611	broad.mit.edu	37	20	57768011	57768011	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr20:57768011G>A	ENST00000371030.2	+	1	1937	c.1937G>A	c.(1936-1938)aGg>aAg	p.R646K		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	646							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.R646K(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AAGAAAGCCAGGGAGGTGGGA	0.567																																						uc002yan.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(13)|ovary(1)	14						c.(1936-1938)AGG>AAG		zinc finger protein 831							63.0	73.0	70.0					20																	57768011		2027	4179	6206	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57768011G>A	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.1937G>A	20.37:g.57768011G>A	ENSP00000360069:p.Arg646Lys						p.R646K	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			1	1937	+	all_lung(29;0.0085)		646					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.1937G>A	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	11.57	1.678915	0.29783	.	.	ENSG00000124203	ENST00000371030	T	0.05139	3.49	5.09	-0.267	0.12938	.	0.847753	0.10239	N	0.698703	T	0.02119	0.0066	N	0.03115	-0.41	0.09310	N	1	B	0.21071	0.051	B	0.14023	0.01	T	0.45848	-0.9233	10	0.05525	T	0.97	-2.6387	5.9734	0.19365	0.2832:0.1274:0.5895:0.0	.	646	Q5JPB2	ZN831_HUMAN	K	646	ENSP00000360069:R646K	ENSP00000360069:R646K	R	+	2	0	ZNF831	57201406	0.001000	0.12720	0.017000	0.16124	0.281000	0.26958	-0.100000	0.10990	-0.053000	0.13289	0.655000	0.94253	AGG		0.567	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2		NM_178457		46	127	0	0	0	0.048971	0	46	127		
GID8	54994	broad.mit.edu	37	20	61572869	61572869	+	Silent	SNP	A	A	G			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr20:61572869A>G	ENST00000266069.3	+	2	162	c.15A>G	c.(13-15)gaA>gaG	p.E5E		NM_017896.2	NP_060366.1	Q9NWU2	GID8_HUMAN	GID complex subunit 8	5						cell junction (GO:0030054)|nucleus (GO:0005634)		p.E5E(1)									GTTATGCAGAAAAACCCGATG	0.458																																						uc002ydy.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(13-15)GAA>GAG		chromosome 20 open reading frame 11							85.0	83.0	84.0					20																	61572869		2203	4300	6503	SO:0001819	synonymous_variant	54994					nucleus	protein binding	g.chr20:61572869A>G	AK000609	CCDS13510.1	20q13.33	2013-07-31	2013-07-31	2012-07-20	ENSG00000101193	ENSG00000101193			15857	protein-coding gene	gene with protein product		611625	"""chromosome 20 open reading frame 11"", ""GID complex subunit 8 homolog (S. cerevisiae)"""	C20orf11		12559565	Standard	NM_017896		Approved	FLJ20602, bA305P22.1, TWA1	uc002ydy.3	Q9NWU2	OTTHUMG00000032949	ENST00000266069.3:c.15A>G	20.37:g.61572869A>G							p.E5E	NM_017896	NP_060366	Q9NWU2	CT011_HUMAN			2	192	+	Breast(26;5.68e-08)		5					E1P5I3|Q8N5M5	Silent	SNP	ENST00000266069.3	37	c.15A>G	CCDS13510.1																																																																																				0.458	GID8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080097.2		NM_017896		15	50	0	0	0	0.024245	0	15	50		
USP25	29761	broad.mit.edu	37	21	17203740	17203740	+	Silent	SNP	C	C	T	rs145101158		TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr21:17203740C>T	ENST00000285679.6	+	16	2154	c.1785C>T	c.(1783-1785)gcC>gcT	p.A595A	USP25_ENST00000351097.5_Intron|USP25_ENST00000285681.2_Silent_p.A595A|USP25_ENST00000400183.2_Silent_p.A595A	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	595	USP.				cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)	p.A595A(1)		breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		GATTACATGCCGTTTTAGTTC	0.373													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19124	0.0		0.0	False		,,,				2504	0.0					uc002yjy.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)|liver(2)	5						c.(1783-1785)GCC>GCT		ubiquitin specific peptidase 25		C		1,4405	2.1+/-5.4	0,1,2202	122.0	117.0	119.0		1785	-6.5	1.0	21	dbSNP_134	119	0,8600		0,0,4300	no	coding-synonymous	USP25	NM_013396.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		595/1056	17203740	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	29761				protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr21:17203740C>T	AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"""Ubiquitin-specific peptidases"""	12624	protein-coding gene	gene with protein product		604736	"""ubiquitin specific protease 25"""			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.1785C>T	21.37:g.17203740C>T						USP25_uc011aby.1_Silent_p.A595A|USP25_uc002yjz.1_Silent_p.A595A|USP25_uc010gla.1_Intron	p.A595A	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN		Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)	16	2002	+			595					C0LSZ0|Q6DHZ9|Q9H9W1	Silent	SNP	ENST00000285679.6	37	c.1785C>T	CCDS33515.1	.	.	.	.	.	.	.	.	.	.	C	10.41	1.343164	0.24339	2.27E-4	0.0	ENSG00000155313	ENST00000453553	.	.	.	5.27	-6.5	0.01884	.	.	.	.	.	T	0.38214	0.1032	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41858	-0.9485	4	.	.	.	.	3.531	0.07777	0.1249:0.3796:0.0997:0.3958	.	.	.	.	L	124	.	.	P	+	2	0	USP25	16125611	0.075000	0.21258	0.961000	0.40146	0.979000	0.70002	-0.783000	0.04638	-0.982000	0.03515	-0.290000	0.09829	CCG		0.373	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1				24	131	0	0	0	0.069288	0	24	131		
COL18A1	80781	broad.mit.edu	37	21	46910215	46910215	+	Silent	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr21:46910215C>T	ENST00000359759.4	+	19	3252	c.3231C>T	c.(3229-3231)ccC>ccT	p.P1077P	COL18A1_ENST00000400337.2_Silent_p.P662P|COL18A1_ENST00000355480.5_Silent_p.P842P			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1077	Triple-helical region 4 (COL4).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)	p.P842P(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		ATGGAGTCCCCGGGTTCCCCG	0.677																																						uc011afs.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(3229-3231)CCC>CCT		alpha 1 type XVIII collagen isoform 3 precursor							16.0	20.0	19.0					21																	46910215		1875	4093	5968	SO:0001819	synonymous_variant	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46910215C>T		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.3231C>T	21.37:g.46910215C>T						COL18A1_uc002zhg.2_Silent_p.P662P|COL18A1_uc002zhi.2_Silent_p.P842P	p.P1077P	NM_130444	NP_569711	P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	19	3252	+			1077			Triple-helical region 4 (COL4).		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Silent	SNP	ENST00000359759.4	37	c.3231C>T																																																																																					0.677	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1				6	11	0	0	0	0.02938	0	6	11		
DDTL	100037417	broad.mit.edu	37	22	24313540	24313540	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr22:24313540T>C	ENST00000215770.5	+	3	364	c.350T>C	c.(349-351)aTa>aCa	p.I117T	KB-226F1.2_ENST00000609736.1_lincRNA	NM_001084393.1	NP_001077862.1	A6NHG4	DDTL_HUMAN	D-dopachrome tautomerase-like	117						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	lyase activity (GO:0016829)	p.I117T(1)		kidney(1)|urinary_tract(1)	2						GGAGAGATAATAGAAGGTAAG	0.483																																						uc002zyy.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(349-351)ATA>ACA		D-dopachrome tautomerase-like							88.0	92.0	90.0					22																	24313540		2186	4291	6477	SO:0001583	missense	100037417					cytoplasm	lyase activity	g.chr22:24313540T>C	CR606018	CCDS42988.1	22q11.23	2008-06-10			ENSG00000099974	ENSG00000099974			33446	protein-coding gene	gene with protein product	"""D-dopachrome decarboxylase-like protein"""					9729470, 10591208	Standard	NM_001084393		Approved		uc002zyy.4	A6NHG4	OTTHUMG00000150800	ENST00000215770.5:c.350T>C	22.37:g.24313540T>C	ENSP00000215770:p.Ile117Thr					DDT_uc011ajf.1_Intron	p.I117T	NM_001084393	NP_001077862	A6NHG4	DDTL_HUMAN			3	427	+			117					B4DJJ7	Missense_Mutation	SNP	ENST00000215770.5	37	c.350T>C	CCDS42988.1	.	.	.	.	.	.	.	.	.	.	.	4.597	0.110882	0.08831	.	.	ENSG00000099974	ENST00000215770	.	.	.	3.51	-1.85	0.07784	Tautomerase (1);	.	.	.	.	T	0.16257	0.0391	N	0.08118	0	0.09310	N	1	B	0.14805	0.011	B	0.13407	0.009	T	0.19614	-1.0300	8	0.72032	D	0.01	.	4.4007	0.11385	0.3868:0.1514:0.0:0.4618	.	117	A6NHG4	DDTL_HUMAN	T	117	.	ENSP00000215770:I117T	I	+	2	0	DDTL	22643540	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.873000	0.04214	-0.470000	0.06901	-0.358000	0.07595	ATA		0.483	DDTL-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320142.1		NM_001084393		43	65	0	0	0	0.09836	0	43	65		
ACKR2	1238	broad.mit.edu	37	3	42906025	42906025	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr3:42906025G>A	ENST00000422265.1	+	3	206	c.31G>A	c.(31-33)Gcc>Acc	p.A11T	RP11-141M3.5_ENST00000471537.1_RNA|ACKR2_ENST00000273145.2_Missense_Mutation_p.A11T|KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000442925.1_Missense_Mutation_p.A11T|CYP8B1_ENST00000437102.1_Intron	NM_001296.4	NP_001287.2	O00590	ACKR2_HUMAN	atypical chemokine receptor 2	11					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)|neutrophil activation (GO:0042119)|receptor-mediated endocytosis (GO:0006898)	actin filament (GO:0005884)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-X-C chemokine receptor activity (GO:0016494)|chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)	p.A11T(1)									GCAGCCACTCGCCACTGAGGA	0.542																																						uc003cme.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(4)|skin(1)	5						c.(31-33)GCC>ACC		chemokine binding protein 2							61.0	60.0	61.0					3																	42906025		2203	4300	6503	SO:0001583	missense	1238				chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity	g.chr3:42906025G>A	U94888	CCDS2706.1	3p21.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144648	ENSG00000144648		"""GPCR / Class A : Chemokine receptors : Atypical"""	1565	protein-coding gene	gene with protein product		602648	"""chemokine binding protein 2"""	CMKBR9, CCBP2		9364936, 9405404, 16148	Standard	NM_001296		Approved	CCR10, D6, CCR9	uc003cme.3	O00590	OTTHUMG00000133040	ENST00000422265.1:c.31G>A	3.37:g.42906025G>A	ENSP00000416996:p.Ala11Thr					CCBP2_uc003cmd.1_Missense_Mutation_p.A11T|CCBP2_uc003cmf.2_Missense_Mutation_p.A11T|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Intron	p.A11T	NM_001296	NP_001287	O00590	CCBP2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.241)	3	210	+			11			Extracellular (Potential).		B2R8Y8|O00537|Q53YA1|Q86UN9|Q96A02	Missense_Mutation	SNP	ENST00000422265.1	37	c.31G>A	CCDS2706.1	.	.	.	.	.	.	.	.	.	.	A	2.873	-0.233443	0.05983	.	.	ENSG00000144648	ENST00000442925;ENST00000422265;ENST00000273145	T;T;T	0.72167	-0.63;-0.63;-0.63	4.78	-0.619	0.11572	.	.	.	.	.	T	0.34687	0.0906	N	0.02539	-0.55	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31558	-0.9939	9	0.02654	T	1	.	5.2991	0.15768	0.4955:0.1525:0.352:0.0	.	11;11	O00590;Q7Z7I1	CCBP2_HUMAN;.	T	11	ENSP00000396150:A11T;ENSP00000416996:A11T;ENSP00000273145:A11T	ENSP00000273145:A11T	A	+	1	0	CCBP2	42881029	0.000000	0.05858	0.003000	0.11579	0.031000	0.12232	-0.330000	0.07925	-0.236000	0.09753	-0.360000	0.07572	GCC		0.542	ACKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256645.2		NM_001296		30	41	0	0	0	0.050027	0	30	41		
RASSF1	11186	broad.mit.edu	37	3	50369047	50369047	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr3:50369047C>T	ENST00000357043.2	-	4	750	c.715G>A	c.(715-717)Gtg>Atg	p.V239M	RASSF1_ENST00000395126.3_Missense_Mutation_p.V84M|RASSF1_ENST00000359365.4_Missense_Mutation_p.V235M|RASSF1_ENST00000327761.3_Missense_Mutation_p.V165M					Ras association (RalGDS/AF-6) domain family member 1									p.V165M(1)|p.V239M(1)		lung(2)|ovary(1)|skin(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TCATCCACCACCAAGAACTTT	0.577																																						uc003dad.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)|skin(1)	2						c.(715-717)GTG>ATG		Ras association domain family 1 isoform D							78.0	85.0	82.0					3																	50369047		2203	4300	6503	SO:0001583	missense	11186				cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus	microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole	identical protein binding|protein binding|protein N-terminus binding|zinc ion binding	g.chr3:50369047C>T	AF132675	CCDS2820.1, CCDS2821.1, CCDS2822.1, CCDS43096.1	3p21.3	2008-02-22	2008-02-22		ENSG00000068028	ENSG00000068028			9882	protein-coding gene	gene with protein product		605082					Standard	NM_170713		Approved	NORE2A, REH3P21, RDA32, 123F2	uc003dad.1	Q9NS23	OTTHUMG00000149958	ENST00000357043.2:c.715G>A	3.37:g.50369047C>T	ENSP00000349547:p.Val239Met					RASSF1_uc003daa.1_Missense_Mutation_p.V84M|RASSF1_uc003dab.1_Missense_Mutation_p.V165M|RASSF1_uc003dac.2_Missense_Mutation_p.V84M|RASSF1_uc003dae.1_Missense_Mutation_p.V235M|RASSF1_uc010hlk.1_RNA|RASSF1_uc003daf.1_Missense_Mutation_p.V84M	p.V239M	NM_170714	NP_733832	Q9NS23	RASF1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	4	846	-			239			Ras-associating.			Missense_Mutation	SNP	ENST00000357043.2	37	c.715G>A	CCDS2820.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.540389	0.85917	.	.	ENSG00000068028	ENST00000327761;ENST00000395126;ENST00000357043;ENST00000359365	T;T;T;T	0.20200	2.09;2.09;2.09;2.09	5.23	5.23	0.72850	Ras-association (3);	0.000000	0.85682	D	0.000000	T	0.48409	0.1498	M	0.74546	2.27	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.83275	0.996;0.995;0.991	T	0.47761	-0.9092	10	0.54805	T	0.06	-28.6532	17.3875	0.87421	0.0:1.0:0.0:0.0	.	235;239;165	Q9NS23-2;Q9NS23;Q5TZT2	.;RASF1_HUMAN;.	M	165;84;239;235	ENSP00000333327:V165M;ENSP00000378558:V84M;ENSP00000349547:V239M;ENSP00000352323:V235M	ENSP00000333327:V165M	V	-	1	0	RASSF1	50344051	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.813000	0.86123	2.448000	0.82819	0.462000	0.41574	GTG		0.577	RASSF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314304.1				16	114	0	0	0	0.028581	0	16	114		
CFAP44	55779	broad.mit.edu	37	3	113145001	113145001	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr3:113145001G>C	ENST00000295868.2	-	4	539	c.377C>G	c.(376-378)tCa>tGa	p.S126*	WDR52-AS1_ENST00000473329.1_RNA|WDR52_ENST00000393845.2_Nonsense_Mutation_p.S126*|WDR52-AS1_ENST00000498480.1_RNA	NM_018338.3	NP_060808.2												p.S126*(1)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						TGGTATGTTTGAATCCAGAGT	0.393																																						uc003eae.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(376-378)TCA>TGA		WD repeat domain 52 isoform 2							235.0	237.0	236.0					3																	113145001		2203	4300	6503	SO:0001587	stop_gained	55779							g.chr3:113145001G>C																												ENST00000295868.2:c.377C>G	3.37:g.113145001G>C	ENSP00000295868:p.Ser126*						p.S126*	NM_018338	NP_060808	Q96MT7	WDR52_HUMAN			4	423	-			126						Nonsense_Mutation	SNP	ENST00000295868.2	37	c.377C>G	CCDS2972.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.898507	0.52227	.	.	ENSG00000206530	ENST00000393845;ENST00000295868	.	.	.	6.16	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	14.5356	0.67958	0.0:0.0:0.8488:0.1512	.	.	.	.	X	126	.	ENSP00000295868:S126X	S	-	2	0	WDR52	114627691	1.000000	0.71417	0.015000	0.15790	0.294000	0.27393	5.448000	0.66612	1.560000	0.49568	0.650000	0.86243	TCA		0.393	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3				122	219	0	0	0	0.048971	0	122	219		
ARGFX	503582	broad.mit.edu	37	3	121305213	121305213	+	Missense_Mutation	SNP	T	T	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr3:121305213T>A	ENST00000334384.3	+	4	724	c.714T>A	c.(712-714)gaT>gaA	p.D238E		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	238					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.D238E(1)		kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		ATCTTCCTGATGAGAATGAGA	0.463																																						uc003eef.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)|ovary(1)	3						c.(712-714)GAT>GAA		arginine-fifty homeobox							116.0	115.0	115.0					3																	121305213		2203	4300	6503	SO:0001583	missense	503582					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:121305213T>A		CCDS33834.1	3q13.33	2011-06-20			ENSG00000186103	ENSG00000186103		"""Homeoboxes / PRD class"""	30146	protein-coding gene	gene with protein product		611164					Standard	XM_005247505		Approved		uc003eef.3	A6NJG6	OTTHUMG00000159395	ENST00000334384.3:c.714T>A	3.37:g.121305213T>A	ENSP00000335578:p.Asp238Glu						p.D238E	NM_001012659	NP_001012677	A6NJG6	ARGFX_HUMAN		GBM - Glioblastoma multiforme(114;0.152)	5	809	+			238						Missense_Mutation	SNP	ENST00000334384.3	37	c.714T>A	CCDS33834.1	.	.	.	.	.	.	.	.	.	.	T	15.43	2.832226	0.50845	.	.	ENSG00000186103	ENST00000334384	D	0.88046	-2.33	3.56	1.07	0.20283	.	0.000000	0.42548	D	0.000683	D	0.82435	0.5036	L	0.27053	0.805	0.09310	N	0.999996	D	0.67145	0.996	P	0.62740	0.906	T	0.72551	-0.4259	10	0.08381	T	0.77	-15.7558	5.4247	0.16419	0.0:0.2428:0.0:0.7572	.	238	A6NJG6	ARGFX_HUMAN	E	238	ENSP00000335578:D238E	ENSP00000335578:D238E	D	+	3	2	ARGFX	122787903	0.942000	0.31987	0.488000	0.27440	0.075000	0.17131	0.732000	0.26072	0.228000	0.21019	0.459000	0.35465	GAT		0.463	ARGFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355096.2		NM_001012659		63	112	0	0	0	0.048971	0	63	112		
FBXO40	51725	broad.mit.edu	37	3	121345737	121345737	+	Nonsense_Mutation	SNP	C	C	T	rs139292085		TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr3:121345737C>T	ENST00000338040.4	+	4	2524	c.2110C>T	c.(2110-2112)Cga>Tga	p.R704*		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	704					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R704G(1)|p.R704*(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		AATCAGACCACGAGGAAGATA	0.483																																						uc003eeg.2		NaN																	2	Substitution - Missense(1)|Substitution - Nonsense(1)		urinary_tract(1)|lung(1)	ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(2110-2112)CGA>TGA		F-box protein 40		C	stop/ARG	0,4406		0,0,2203	75.0	75.0	75.0		2110	3.1	0.0	3	dbSNP_134	75	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained	FBXO40	NM_016298.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		704/710	121345737	1,13005	2203	4300	6503	SO:0001587	stop_gained	51725				muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding	g.chr3:121345737C>T	AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"""F-boxes /  ""other"""""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.2110C>T	3.37:g.121345737C>T	ENSP00000337510:p.Arg704*						p.R704*	NM_016298	NP_057382	Q9UH90	FBX40_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	4	2320	+			704					B2RAX7|Q32M70|Q9ULM5	Nonsense_Mutation	SNP	ENST00000338040.4	37	c.2110C>T	CCDS33835.1	.	.	.	.	.	.	.	.	.	.	C	41	8.629885	0.98892	0.0	1.16E-4	ENSG00000163833	ENST00000338040	.	.	.	6.17	3.09	0.35607	.	0.559950	0.15998	N	0.234478	.	.	.	.	.	.	0.28197	N	0.927507	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.7417	5.3458	0.16008	0.1661:0.6338:0.0:0.2001	.	.	.	.	X	704	.	ENSP00000337510:R704X	R	+	1	2	FBXO40	122828427	0.000000	0.05858	0.008000	0.14137	0.412000	0.31113	0.234000	0.17930	0.943000	0.37553	0.655000	0.94253	CGA		0.483	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355158.1		NM_016298		31	62	0	0	0	0.050027	0	31	62		
H1FX	8971	broad.mit.edu	37	3	129034521	129034521	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr3:129034521C>G	ENST00000333762.4	-	1	599	c.225G>C	c.(223-225)aaG>aaC	p.K75N	H1FX-AS1_ENST00000502789.2_RNA|H1FX-AS1_ENST00000537780.1_RNA|H1FX-AS1_ENST00000433902.2_RNA|H1FX-AS1_ENST00000511998.1_RNA|H1FX-AS1_ENST00000383461.2_RNA	NM_006026.3	NP_006017.1	Q92522	H1X_HUMAN	H1 histone family, member X	75	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)	nucleolus (GO:0005730)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.K75N(1)		kidney(1)|ovary(1)|urinary_tract(2)	4						ACGGAACCTTCTTGGCCTCGG	0.617																																						uc003elx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(223-225)AAG>AAC		H1 histone family, member X							60.0	37.0	44.0					3																	129034521		2202	4300	6502	SO:0001583	missense	8971				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr3:129034521C>G	D64142	CCDS3057.1	3q21.3	2011-08-16			ENSG00000184897	ENSG00000184897		"""Histones / Replication-independent"""	4722	protein-coding gene	gene with protein product		602785				8964515, 9439656	Standard	NM_006026		Approved	MGC15959, MGC8350, H1X	uc003elx.3	Q92522	OTTHUMG00000159450	ENST00000333762.4:c.225G>C	3.37:g.129034521C>G	ENSP00000329662:p.Lys75Asn					C3orf47_uc011bkv.1_5'Flank	p.K75N	NM_006026	NP_006017	Q92522	H1X_HUMAN			1	600	-			75			H15.			Missense_Mutation	SNP	ENST00000333762.4	37	c.225G>C	CCDS3057.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.540095	0.45176	.	.	ENSG00000184897	ENST00000333762	T	0.10668	2.85	3.53	2.63	0.31362	Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.161448	0.35646	U	0.003070	T	0.25005	0.0607	M	0.79475	2.455	0.41169	D	0.98615	D	0.63880	0.993	P	0.61397	0.888	T	0.08534	-1.0717	10	0.17832	T	0.49	-12.8649	10.405	0.44252	0.0:0.7982:0.2018:0.0	.	75	Q92522	H1X_HUMAN	N	75	ENSP00000329662:K75N	ENSP00000329662:K75N	K	-	3	2	H1FX	130517211	1.000000	0.71417	0.997000	0.53966	0.096000	0.18686	3.048000	0.49862	0.448000	0.26722	-0.502000	0.04539	AAG		0.617	H1FX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355455.2		NM_006026		9	5	0	0	0	0.047766	0	9	5		
H1FX	8971	broad.mit.edu	37	3	129034529	129034529	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr3:129034529C>T	ENST00000333762.4	-	1	591	c.217G>A	c.(217-219)Gag>Aag	p.E73K	H1FX-AS1_ENST00000502789.2_RNA|H1FX-AS1_ENST00000537780.1_RNA|H1FX-AS1_ENST00000433902.2_RNA|H1FX-AS1_ENST00000511998.1_RNA|H1FX-AS1_ENST00000383461.2_RNA	NM_006026.3	NP_006017.1	Q92522	H1X_HUMAN	H1 histone family, member X	73	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)	nucleolus (GO:0005730)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.E73K(1)		kidney(1)|ovary(1)|urinary_tract(2)	4						TTCTTGGCCTCGGTGTAGATC	0.597																																						uc003elx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(217-219)GAG>AAG		H1 histone family, member X							56.0	34.0	42.0					3																	129034529		2203	4300	6503	SO:0001583	missense	8971				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr3:129034529C>T	D64142	CCDS3057.1	3q21.3	2011-08-16			ENSG00000184897	ENSG00000184897		"""Histones / Replication-independent"""	4722	protein-coding gene	gene with protein product		602785				8964515, 9439656	Standard	NM_006026		Approved	MGC15959, MGC8350, H1X	uc003elx.3	Q92522	OTTHUMG00000159450	ENST00000333762.4:c.217G>A	3.37:g.129034529C>T	ENSP00000329662:p.Glu73Lys					C3orf47_uc011bkv.1_5'Flank	p.E73K	NM_006026	NP_006017	Q92522	H1X_HUMAN			1	592	-			73			H15.			Missense_Mutation	SNP	ENST00000333762.4	37	c.217G>A	CCDS3057.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.441084	0.43326	.	.	ENSG00000184897	ENST00000333762	T	0.21543	2.0	3.53	3.53	0.40419	Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.64402	U	0.000003	T	0.09862	0.0242	N	0.02674	-0.535	0.44668	D	0.997656	P	0.46706	0.883	B	0.44224	0.444	T	0.28554	-1.0040	10	0.23302	T	0.38	-35.0948	12.5956	0.56468	0.0:1.0:0.0:0.0	.	73	Q92522	H1X_HUMAN	K	73	ENSP00000329662:E73K	ENSP00000329662:E73K	E	-	1	0	H1FX	130517219	0.291000	0.24352	0.851000	0.33527	0.045000	0.14185	0.926000	0.28804	1.515000	0.48885	0.462000	0.41574	GAG		0.597	H1FX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355455.2		NM_006026		7	5	0	0	0	0.038147	0	7	5		
PRR23B	389151	broad.mit.edu	37	3	138738777	138738777	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr3:138738777C>T	ENST00000329447.5	-	1	991	c.727G>A	c.(727-729)Ggt>Agt	p.G243S	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	243	Pro-rich.							p.G243S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCGTGGGGACCTGGACTCCCC	0.652																																						uc003esy.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(1)	1						c.(727-729)GGT>AGT		proline rich 23B							19.0	22.0	21.0					3																	138738777		2200	4290	6490	SO:0001583	missense	389151							g.chr3:138738777C>T	BC137146	CCDS33868.1	3q22.3	2014-06-03			ENSG00000184814	ENSG00000184814			33764	protein-coding gene	gene with protein product							Standard	NM_001013650		Approved	FLJ46116	uc003esy.1	Q6ZRT6	OTTHUMG00000160633	ENST00000329447.5:c.727G>A	3.37:g.138738777C>T	ENSP00000328768:p.Gly243Ser						p.G243S	NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN			1	992	-			243			Pro-rich.		B2RNV9	Missense_Mutation	SNP	ENST00000329447.5	37	c.727G>A	CCDS33868.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.442184	0.43326	.	.	ENSG00000184814	ENST00000329447	.	.	.	3.63	-0.381	0.12485	.	1.209500	0.06034	N	0.653704	T	0.29976	0.0750	L	0.47190	1.495	0.09310	N	1	P	0.47484	0.896	B	0.43575	0.424	T	0.19095	-1.0316	9	0.32370	T	0.25	.	3.0097	0.06040	0.194:0.4721:0.0:0.3339	.	243	Q6ZRT6	PR23B_HUMAN	S	243	.	ENSP00000328768:G243S	G	-	1	0	PRR23B	140221467	0.005000	0.15991	0.004000	0.12327	0.140000	0.21249	0.000000	0.12993	-0.086000	0.12550	-0.182000	0.12963	GGT		0.652	PRR23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361501.1		NM_001013650		7	33	0	0	0	0.047766	0	7	33		
GPR171	29909	broad.mit.edu	37	3	150916249	150916249	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr3:150916249G>A	ENST00000309180.5	-	3	1155	c.925C>T	c.(925-927)Cag>Tag	p.Q309*	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	309					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.Q309*(1)		endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTTTCTTTCTGAGCCTTGGTC	0.388																																						uc003eyq.3		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(925-927)CAG>TAG		G protein-coupled receptor 171							68.0	69.0	69.0					3																	150916249		2203	4300	6503	SO:0001587	stop_gained	29909					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:150916249G>A	AF002986	CCDS3155.1	3q25.1	2012-08-21			ENSG00000174946	ENSG00000174946		"""GPCR / Class A : Orphans"""	30057	protein-coding gene	gene with protein product	"""platelet activating receptor homolog"""					9370294	Standard	NM_013308		Approved	H963	uc003eyq.4	O14626	OTTHUMG00000159861	ENST00000309180.5:c.925C>T	3.37:g.150916249G>A	ENSP00000308479:p.Gln309*					MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	p.Q309*	NM_013308	NP_037440	O14626	GP171_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	1165	-			309			Cytoplasmic (Potential).		D3DNJ4|Q8IV06	Nonsense_Mutation	SNP	ENST00000309180.5	37	c.925C>T	CCDS3155.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.784066	0.90282	.	.	ENSG00000174946	ENST00000309180	.	.	.	5.61	2.61	0.31194	.	1.513160	0.04042	N	0.303294	.	.	.	.	.	.	0.27274	N	0.958295	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	0.4159	8.2189	0.31530	0.0711:0.0:0.5335:0.3954	.	.	.	.	X	309	.	ENSP00000308479:Q309X	Q	-	1	0	GPR171	152398939	0.000000	0.05858	0.020000	0.16555	0.269000	0.26545	0.458000	0.21892	0.673000	0.31224	-0.188000	0.12872	CAG		0.388	GPR171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357793.1		NM_013308		39	75	0	0	0	0.080422	0	39	75		
FAM193A	8603	broad.mit.edu	37	4	2701490	2701490	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr4:2701490G>T	ENST00000324666.5	+	17	3069	c.2718G>T	c.(2716-2718)gaG>gaT	p.E906D	FAM193A_ENST00000382839.3_Missense_Mutation_p.E906D|FAM193A_ENST00000502458.1_Missense_Mutation_p.E928D|FAM193A_ENST00000545951.1_Missense_Mutation_p.E906D|FAM193A_ENST00000505311.1_Missense_Mutation_p.E906D	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	906	Glu-rich.							p.E906D(1)		NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GGCGggaggaggaggaggatg	0.552																																						uc010icl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)	3						c.(2716-2718)GAG>GAT		hypothetical protein LOC8603							25.0	26.0	25.0					4																	2701490		2203	4300	6503	SO:0001583	missense	8603							g.chr4:2701490G>T	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.2718G>T	4.37:g.2701490G>T	ENSP00000324587:p.Glu906Asp					FAM193A_uc010ick.2_Missense_Mutation_p.E1106D|FAM193A_uc003gfd.2_Missense_Mutation_p.E906D|FAM193A_uc011bvm.1_Missense_Mutation_p.E928D|FAM193A_uc011bvn.1_Missense_Mutation_p.E906D|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Missense_Mutation_p.E760D	p.E906D	NM_003704	NP_003695	P78312	F193A_HUMAN			17	3069	+			906			Glu-rich.|Potential.		B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	ENST00000324666.5	37	c.2718G>T	CCDS58875.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.941655	0.34283	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458;ENST00000513350	T;T;T;T;T	0.32753	1.45;1.86;1.45;1.45;1.44	4.91	2.16	0.27623	.	0.447983	0.26163	N	0.025973	T	0.14442	0.0349	N	0.12182	0.205	0.29397	N	0.862188	B;B;B;B;B	0.19583	0.02;0.037;0.037;0.02;0.02	B;B;B;B;B	0.19148	0.016;0.016;0.024;0.016;0.016	T	0.12915	-1.0529	10	0.31617	T	0.26	-18.0363	5.9623	0.19307	0.2981:0.131:0.5708:0.0	.	906;928;906;928;906	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	D	906;906;906;928;760	ENSP00000372290:E906D;ENSP00000324587:E906D;ENSP00000443617:E906D;ENSP00000427505:E928D;ENSP00000427260:E760D	ENSP00000324587:E906D	E	+	3	2	FAM193A	2671288	0.990000	0.36364	0.700000	0.30305	0.828000	0.46876	-0.392000	0.07314	0.301000	0.22738	0.650000	0.86243	GAG		0.552	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1		NM_003704		8	39	1	0	0.00448238	0.047766	0.00454611	8	39		
EVC2	132884	broad.mit.edu	37	4	5564598	5564598	+	Missense_Mutation	SNP	T	T	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr4:5564598T>A	ENST00000344408.5	-	22	3957	c.3904A>T	c.(3904-3906)Atg>Ttg	p.M1302L	EVC2_ENST00000310917.2_Missense_Mutation_p.M1222L|EVC2_ENST00000344938.1_Intron	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1302					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.M1302L(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						AAGGCCCTCATGGCCTTTTTG	0.488																																						uc003gij.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(3)|ovary(2)	5						c.(3904-3906)ATG>TTG		limbin							78.0	80.0	79.0					4																	5564598		2203	4300	6503	SO:0001583	missense	132884					integral to membrane		g.chr4:5564598T>A	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.3904A>T	4.37:g.5564598T>A	ENSP00000342144:p.Met1302Leu					EVC2_uc011bwb.1_Missense_Mutation_p.M742L|EVC2_uc003gik.2_Missense_Mutation_p.M1222L	p.M1302L	NM_147127	NP_667338	Q86UK5	LBN_HUMAN			22	3958	-			1302					Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	c.3904A>T	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	T	12.79	2.043976	0.36085	.	.	ENSG00000173040	ENST00000310917;ENST00000344408	T;T	0.73258	-0.72;-0.73	4.97	-9.84	0.00479	.	0.215116	0.38272	N	0.001760	T	0.36303	0.0962	N	0.08118	0	0.19775	N	0.999951	B	0.02656	0.0	B	0.01281	0.0	T	0.08472	-1.0720	10	0.48119	T	0.1	0.19	5.6696	0.17715	0.329:0.4077:0.0:0.2632	.	1302	Q86UK5	LBN_HUMAN	L	1222;1302	ENSP00000311683:M1222L;ENSP00000342144:M1302L	ENSP00000311683:M1222L	M	-	1	0	EVC2	5615499	0.007000	0.16637	0.001000	0.08648	0.060000	0.15804	-0.641000	0.05434	-1.432000	0.01979	-1.182000	0.01712	ATG		0.488	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2		NM_147127		51	112	0	0	0	0.048971	0	51	112		
LAP3	51056	broad.mit.edu	37	4	17606232	17606232	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr4:17606232G>T	ENST00000226299.4	+	11	1476	c.1202G>T	c.(1201-1203)gGa>gTa	p.G401V	LAP3_ENST00000606142.1_Missense_Mutation_p.G370V|AC006160.5_ENST00000511010.1_RNA|LAP3_ENST00000503467.1_3'UTR	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	401					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)	p.G401V(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						GTAGCTTTGGGATCAGGTGCC	0.478																																						uc003gph.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1201-1203)GGA>GTA		leucine aminopeptidase 3							141.0	133.0	136.0					4																	17606232		2203	4300	6503	SO:0001583	missense	51056				proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding	g.chr4:17606232G>T	AF061738	CCDS3422.1	4p15.33	2012-07-25	2003-09-12		ENSG00000002549	ENSG00000002549	3.4.11.1		18449	protein-coding gene	gene with protein product		170250	"""peptidase S"""	PEPS		6350155, 689684	Standard	NM_015907		Approved	LAPEP, LAP	uc003gph.1	P28838	OTTHUMG00000048214	ENST00000226299.4:c.1202G>T	4.37:g.17606232G>T	ENSP00000226299:p.Gly401Val						p.G401V	NM_015907	NP_056991	P28838	AMPL_HUMAN			11	1364	+			401					B3KMQ3|Q6IAM6|Q6P0L6|Q9UQE3	Missense_Mutation	SNP	ENST00000226299.4	37	c.1202G>T	CCDS3422.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.621267	0.87460	.	.	ENSG00000002549	ENST00000226299;ENST00000513105	T;T	0.78003	0.16;-1.14	5.84	4.99	0.66335	Peptidase M17, leucyl aminopeptidase, C-terminal (1);	0.047005	0.85682	D	0.000000	D	0.93703	0.7988	H	0.99545	4.62	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96729	0.9538	10	0.87932	D	0	-25.2097	16.9771	0.86316	0.0:0.1276:0.8724:0.0	.	401	P28838	AMPL_HUMAN	V	401;171	ENSP00000226299:G401V;ENSP00000424724:G171V	ENSP00000226299:G401V	G	+	2	0	LAP3	17215330	1.000000	0.71417	0.907000	0.35723	0.981000	0.71138	9.393000	0.97256	1.442000	0.47568	0.655000	0.94253	GGA		0.478	LAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250365.1				11	114	1	0	7.03913e-09	0.09319	7.42056e-09	11	114		
GBA3	57733	broad.mit.edu	37	4	22749341	22749341	+	RNA	SNP	G	G	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr4:22749341G>C	ENST00000503442.1	+	0	377				GBA3_ENST00000511446.2_RNA|GBA3_ENST00000508166.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)	p.V237L(1)		breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCCCAACTCAGTGTCTGACCA	0.428																																						uc003gqp.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(709-711)GTG>CTG		cytosolic beta-glucosidase isoform a							143.0	141.0	142.0					4																	22749341		1906	4110	6016			57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22749341G>C	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22749341G>C						GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Missense_Mutation_p.V238L	p.V237L	NM_020973	NP_066024	Q9H227	GBA3_HUMAN			3	800	+			237					Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	Missense_Mutation	SNP	ENST00000503442.1	37	c.709G>C																																																																																					0.428	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2				36	177	0	0	0	0.104719	0	36	177		
AFM	173	broad.mit.edu	37	4	74357676	74357676	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr4:74357676G>T	ENST00000226355.3	+	8	1024	c.931G>T	c.(931-933)Ggc>Tgc	p.G311C		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	311	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)	p.G311C(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ACCAGAGCGCGGCCAGTGCAT	0.358																																						uc003hhb.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)	3						c.(931-933)GGC>TGC		afamin precursor							85.0	89.0	88.0					4																	74357676		2203	4300	6503	SO:0001583	missense	173				vitamin transport		vitamin E binding	g.chr4:74357676G>T	L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.931G>T	4.37:g.74357676G>T	ENSP00000226355:p.Gly311Cys						p.G311C	NM_001133	NP_001124	P43652	AFAM_HUMAN	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		8	962	+	Breast(15;0.00102)		311			Albumin 2.		A8K3E1|Q32MR3|Q4W5C5	Missense_Mutation	SNP	ENST00000226355.3	37	c.931G>T	CCDS3557.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.451582	0.26074	.	.	ENSG00000079557	ENST00000226355	T	0.73469	-0.75	5.06	4.2	0.49525	Serum albumin-like (1);Serum albumin, N-terminal (3);	1.020320	0.07785	N	0.953987	D	0.85487	0.5708	M	0.73962	2.25	0.09310	N	1	D	0.76494	0.999	D	0.66847	0.947	T	0.70167	-0.4946	10	0.87932	D	0	.	11.518	0.50534	0.0:0.1811:0.8189:0.0	.	311	P43652	AFAM_HUMAN	C	311	ENSP00000226355:G311C	ENSP00000226355:G311C	G	+	1	0	AFM	74576540	0.096000	0.21769	0.001000	0.08648	0.135000	0.20990	3.431000	0.52814	1.126000	0.42016	0.449000	0.29647	GGC		0.358	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2				23	38	1	0	1.85244e-09	0.083992	1.96249e-09	23	38		
PPBP	5473	broad.mit.edu	37	4	74853045	74853045	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr4:74853045G>T	ENST00000296028.3	-	3	424	c.331C>A	c.(331-333)Ccc>Acc	p.P111T		NM_002704.3	NP_002695.1	P02775	CXCL7_HUMAN	pro-platelet basic protein (chemokine (C-X-C motif) ligand 7)	111					blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|defense response to bacterium (GO:0042742)|glucose transport (GO:0015758)|immune response (GO:0006955)|leukocyte migration involved in inflammatory response (GO:0002523)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell division (GO:0051781)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)	glucose transmembrane transporter activity (GO:0005355)	p.P111T(1)		breast(1)|central_nervous_system(1)|lung(1)|ovary(2)|skin(2)|stomach(1)|urinary_tract(2)	10	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			TTGATTCTGGGAGCATCTGGG	0.428																																						uc003hhj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(331-333)CCC>ACC		pro-platelet basic protein precursor							118.0	119.0	119.0					4																	74853045		2203	4300	6503	SO:0001583	missense	5473				chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division	extracellular space|platelet alpha granule lumen	chemokine activity|glucose transmembrane transporter activity|growth factor activity	g.chr4:74853045G>T	M54995	CCDS3563.1	4q12-q13	2013-02-25	2002-08-22		ENSG00000163736	ENSG00000163736		"""Endogenous ligands"""	9240	protein-coding gene	gene with protein product	"""platelet basic protein"", ""beta-thromboglobulin"", ""connective tissue-activating peptide III"", ""neutrophil-activating peptide-2"""	121010		THBGB1		1826003	Standard	NM_002704		Approved	SCYB7, TGB, NAP-2-L1, LA-PF4, MDGF, LDGF, Beta-TG, CTAP3, CXCL7, PBP, b-TG1, TGB1, CTAPIII, NAP-2	uc003hhj.3	P02775	OTTHUMG00000130008	ENST00000296028.3:c.331C>A	4.37:g.74853045G>T	ENSP00000296028:p.Pro111Thr						p.P111T	NM_002704	NP_002695	P02775	CXCL7_HUMAN	all cancers(17;0.00273)|Lung(101;0.196)		3	411	-	Breast(15;0.00136)		111					B2R5F3|Q6IBJ8	Missense_Mutation	SNP	ENST00000296028.3	37	c.331C>A	CCDS3563.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.000750	0.54254	.	.	ENSG00000163736	ENST00000296028	T	0.05382	3.45	2.8	1.92	0.25849	Chemokine interleukin-8-like domain (3);	0.340580	0.27768	N	0.017932	T	0.20901	0.0503	M	0.79805	2.47	0.09310	N	1	D	0.76494	0.999	D	0.74674	0.984	T	0.01982	-1.1235	10	0.87932	D	0	-3.1121	7.5807	0.27963	0.0:0.2669:0.7331:0.0	.	111	P02775	CXCL7_HUMAN	T	111	ENSP00000296028:P111T	ENSP00000296028:P111T	P	-	1	0	PPBP	75071909	0.030000	0.19436	0.001000	0.08648	0.852000	0.48524	1.189000	0.32114	0.484000	0.27630	0.305000	0.20034	CCC		0.428	PPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252281.2		NM_002704		45	68	1	0	4.88482e-21	0.048971	5.53096e-21	45	68		
WDFY3	23001	broad.mit.edu	37	4	85781566	85781566	+	Splice_Site	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr4:85781566C>T	ENST00000295888.4	-	4	586	c.179G>A	c.(178-180)aGg>aAg	p.R60K	WDFY3_ENST00000322366.6_Splice_Site_p.R60K	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	60					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.R60K(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TGGACTTACCCTGTTAAACAC	0.507																																						uc003hpd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)	3						c.(178-180)AGG>AAG		WD repeat and FYVE domain containing 3 isoform							142.0	129.0	134.0					4																	85781566		2203	4300	6503	SO:0001630	splice_region_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85781566C>T	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.180+1G>A	4.37:g.85781566C>T						WDFY3_uc003hpf.2_Missense_Mutation_p.R60K	p.R60K	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	4	587	-		Hepatocellular(203;0.114)	60					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.179G>A	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.732160	0.30684	.	.	ENSG00000163625	ENST00000322366;ENST00000295888;ENST00000509172	T;T	0.59224	0.28;0.28	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.23806	0.0576	N	0.00382	-1.575	0.80722	D	1	B;B	0.18013	0.025;0.025	B;B	0.16722	0.016;0.01	T	0.49082	-0.8976	10	0.02654	T	1	.	19.8968	0.96969	0.0:1.0:0.0:0.0	.	60;60	E2QRK8;Q8IZQ1	.;WDFY3_HUMAN	K	60	ENSP00000318466:R60K;ENSP00000295888:R60K	ENSP00000295888:R60K	R	-	2	0	WDFY3	86000590	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.873000	0.69644	2.691000	0.91804	0.655000	0.94253	AGG		0.507	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2		NM_014991	Missense_Mutation	25	57	0	0	0	0.108266	0	25	57		
TIGD2	166815	broad.mit.edu	37	4	90035429	90035429	+	Missense_Mutation	SNP	G	G	T	rs539533845		TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr4:90035429G>T	ENST00000317005.2	+	1	1462	c.1304G>T	c.(1303-1305)cGg>cTg	p.R435L	RP11-84C13.1_ENST00000603357.1_lincRNA|FAM13A_ENST00000502459.1_5'Flank	NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	435						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R435L(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		TTCGACTCTCGGAGCAGTGAC	0.443																																						uc003hsk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1303-1305)CGG>CTG		tigger transposable element derived 2							82.0	80.0	81.0					4																	90035429		2203	4300	6503	SO:0001583	missense	166815				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr4:90035429G>T	AK027653	CCDS3633.1	4q21.3	2013-02-21			ENSG00000180346	ENSG00000180346			18333	protein-coding gene	gene with protein product		612973					Standard	NM_145715		Approved		uc003hsk.3	Q4W5G0	OTTHUMG00000130946	ENST00000317005.2:c.1304G>T	4.37:g.90035429G>T	ENSP00000317170:p.Arg435Leu					FAM13A_uc003hsh.1_5'Flank	p.R435L	NM_145715	NP_663761	Q4W5G0	TIGD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)	1	1462	+		Hepatocellular(203;0.114)	435						Missense_Mutation	SNP	ENST00000317005.2	37	c.1304G>T	CCDS3633.1	.	.	.	.	.	.	.	.	.	.	G	1.557	-0.537785	0.04082	.	.	ENSG00000180346	ENST00000317005	T	0.23950	1.88	3.95	-0.553	0.11815	.	0.810057	0.10357	N	0.684400	T	0.14570	0.0352	L	0.29908	0.895	0.09310	N	1	B	0.19706	0.038	B	0.16722	0.016	T	0.31251	-0.9950	10	0.26408	T	0.33	-0.4218	3.5351	0.07792	0.4773:0.2063:0.3164:0.0	.	435	Q4W5G0	TIGD2_HUMAN	L	435	ENSP00000317170:R435L	ENSP00000317170:R435L	R	+	2	0	TIGD2	90254452	0.008000	0.16893	0.178000	0.23040	0.002000	0.02628	-0.091000	0.11146	-0.193000	0.10415	0.467000	0.42956	CGG		0.443	TIGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253545.2		NM_145715		30	46	1	0	1.7881e-09	0.037714	1.90375e-09	30	46		
CENPE	1062	broad.mit.edu	37	4	104061057	104061057	+	Silent	SNP	A	A	G			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr4:104061057A>G	ENST00000265148.3	-	38	6182	c.6093T>C	c.(6091-6093)ctT>ctC	p.L2031L	CENPE_ENST00000380026.3_Intron	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2031					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)	p.L2031L(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTATTTCTTCAAGGCTTTCAT	0.358																																						uc003hxb.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(5)|breast(4)	9						c.(6091-6093)CTT>CTC		centromere protein E							144.0	137.0	139.0					4																	104061057		2203	4300	6503	SO:0001819	synonymous_variant	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104061057A>G	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.6093T>C	4.37:g.104061057A>G						CENPE_uc003hxc.1_Intron|CENPE_uc003hxd.1_Intron	p.L2031L	NM_001813	NP_001804	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	38	6183	-			2031			Potential.		A6NKY9|A8K2U7|Q4LE75	Silent	SNP	ENST00000265148.3	37	c.6093T>C	CCDS34042.1																																																																																				0.358	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding					47	96	0	0	0	0.048971	0	47	96		
RBM46	166863	broad.mit.edu	37	4	155719125	155719125	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr4:155719125T>C	ENST00000281722.3	+	3	549	c.314T>C	c.(313-315)tTt>tCt	p.F105S	RBM46_ENST00000510397.1_Missense_Mutation_p.F105S|RBM46_ENST00000514866.1_Missense_Mutation_p.F105S	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	105	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.F105S(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				GGTTATGCTTTTGTGATGTAC	0.353																																						uc003ioo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)|skin(1)	2						c.(313-315)TTT>TCT		RNA binding motif protein 46							114.0	119.0	117.0					4																	155719125		2203	4300	6503	SO:0001583	missense	166863						nucleotide binding|RNA binding	g.chr4:155719125T>C	BC028588	CCDS3790.1, CCDS64085.1, CCDS64086.1	4q32.1	2013-02-12				ENSG00000151962		"""RNA binding motif (RRM) containing"""	28401	protein-coding gene	gene with protein product	"""cancer/testis antigen 68"""					12477932	Standard	NM_144979		Approved	MGC27016, CT68	uc003ioo.4	Q8TBY0		ENST00000281722.3:c.314T>C	4.37:g.155719125T>C	ENSP00000281722:p.Phe105Ser					RBM46_uc011cim.1_Missense_Mutation_p.F105S|RBM46_uc003iop.1_Missense_Mutation_p.F105S	p.F105S	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN			3	487	+	all_hematologic(180;0.24)	Renal(120;0.0854)	105			RRM 1.		B3KWU8|B4DZ27	Missense_Mutation	SNP	ENST00000281722.3	37	c.314T>C	CCDS3790.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.948765	0.73787	.	.	ENSG00000151962	ENST00000514866;ENST00000281722;ENST00000510397;ENST00000512640	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	5.9	5.9	0.94986	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.70962	0.3284	H	0.97682	4.055	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.995;0.994;0.996	T	0.82400	-0.0476	10	0.87932	D	0	-19.3177	16.3245	0.82970	0.0:0.0:0.0:1.0	.	105;105;105	B4DZ27;B3KWU8;Q8TBY0	.;.;RBM46_HUMAN	S	105	ENSP00000424500:F105S;ENSP00000281722:F105S;ENSP00000422813:F105S;ENSP00000426672:F105S	ENSP00000281722:F105S	F	+	2	0	RBM46	155938575	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.873000	0.87193	2.254000	0.74563	0.460000	0.39030	TTT		0.353	RBM46-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365259.1		NM_144979		40	60	0	0	0	0.039052	0	40	60		
TDO2	6999	broad.mit.edu	37	4	156838600	156838600	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr4:156838600T>C	ENST00000536354.2	+	10	1014	c.950T>C	c.(949-951)aTa>aCa	p.I317T		NM_005651.3	NP_005642.1			tryptophan 2,3-dioxygenase									p.I317T(1)		breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)		CTTATGGACATAGATTCACTG	0.418																																					Colon(57;928 1036 2595 6946 26094)	uc003ipf.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(949-951)ATA>ACA		tryptophan 2,3-dioxygenase	L-Tryptophan(DB00150)						153.0	141.0	145.0					4																	156838600		2203	4300	6503	SO:0001583	missense	6999				tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity	g.chr4:156838600T>C		CCDS34086.1	4q31-q32	2008-02-05				ENSG00000151790	1.13.11.11		11708	protein-coding gene	gene with protein product		191070					Standard	NM_005651		Approved	TDO, TPH2	uc003ipf.2	P48775		ENST00000536354.2:c.950T>C	4.37:g.156838600T>C	ENSP00000444788:p.Ile317Thr						p.I317T	NM_005651	NP_005642	P48775	T23O_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	10	1014	+	all_hematologic(180;0.24)	Renal(120;0.0854)	317						Missense_Mutation	SNP	ENST00000536354.2	37	c.950T>C	CCDS34086.1	.	.	.	.	.	.	.	.	.	.	T	18.75	3.690415	0.68271	.	.	ENSG00000151790	ENST00000536354	.	.	.	6.04	6.04	0.98038	.	0.128796	0.64402	D	0.000001	T	0.78117	0.4233	M	0.87097	2.86	0.80722	D	1	D	0.53619	0.961	P	0.53912	0.737	T	0.82476	-0.0438	9	0.87932	D	0	-14.2141	16.6277	0.84984	0.0:0.0:0.0:1.0	.	317	P48775	T23O_HUMAN	T	317	.	ENSP00000281525:I317T	I	+	2	0	TDO2	157058050	1.000000	0.71417	0.652000	0.29579	0.967000	0.64934	7.641000	0.83368	2.330000	0.79161	0.529000	0.55759	ATA		0.418	TDO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366209.3		NM_005651		42	56	0	0	0	0.048971	0	42	56		
TENM3	55714	broad.mit.edu	37	4	183696288	183696288	+	Silent	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr4:183696288C>T	ENST00000511685.1	+	24	5409	c.5286C>T	c.(5284-5286)gtC>gtT	p.V1762V	RP11-18D7.2_ENST00000513255.1_RNA|TENM3_ENST00000406950.2_Silent_p.V1762V			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1762					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.V1762V(1)									AAGTCAATGTCTTTGGCCGCA	0.532																																						uc003ivd.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(5284-5286)GTC>GTT		odz, odd Oz/ten-m homolog 3							64.0	66.0	65.0					4																	183696288		2094	4222	6316	SO:0001819	synonymous_variant	55714				signal transduction	integral to membrane		g.chr4:183696288C>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.5286C>T	4.37:g.183696288C>T							p.V1762V	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	23	5323	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	1762			Extracellular (Potential).		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	37	c.5286C>T	CCDS47165.1																																																																																				0.532	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1				15	32	0	0	0	0.028581	0	15	32		
ADAMTS12	81792	broad.mit.edu	37	5	33576735	33576735	+	Silent	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr5:33576735G>A	ENST00000504830.1	-	19	3731	c.3396C>T	c.(3394-3396)tcC>tcT	p.S1132S	ADAMTS12_ENST00000352040.3_Silent_p.S1047S|ADAMTS12_ENST00000504582.1_5'Flank	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1132	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S1132S(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TAGGGTTGCGGGAAGATGACA	0.483										HNSCC(64;0.19)																												uc003jia.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(3394-3396)TCC>TCT		ADAM metallopeptidase with thrombospondin type 1							99.0	93.0	95.0					5																	33576735		2203	4300	6503	SO:0001819	synonymous_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33576735G>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3396C>T	5.37:g.33576735G>A		HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Silent_p.S1047S	p.S1132S	NM_030955	NP_112217	P58397	ATS12_HUMAN			19	3559	-			1132			Spacer 2.		A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	c.3396C>T	CCDS34140.1																																																																																				0.483	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2		NM_030955		25	107	0	0	0	0.083992	0	25	107		
CARD6	84674	broad.mit.edu	37	5	40843579	40843579	+	Silent	SNP	A	A	G			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr5:40843579A>G	ENST00000254691.5	+	2	808	c.609A>G	c.(607-609)ctA>ctG	p.L203L	CARD6_ENST00000381677.3_Silent_p.L203L	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	203	Asp/Glu-rich.				apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)			p.L203L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						ATGAGGAGCTAGATGATTCTT	0.393																																						uc003jmg.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|skin(2)|lung(1)	5						c.(607-609)CTA>CTG		caspase recruitment domain family, member 6							45.0	49.0	48.0					5																	40843579		2203	4300	6503	SO:0001819	synonymous_variant	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40843579A>G	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.609A>G	5.37:g.40843579A>G							p.L203L	NM_032587	NP_115976	Q9BX69	CARD6_HUMAN			2	684	+			203			Asp/Glu-rich.		Q52LR2	Silent	SNP	ENST00000254691.5	37	c.609A>G	CCDS3935.1																																																																																				0.393	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3				16	52	0	0	0	0.024245	0	16	52		
FBXO4	26272	broad.mit.edu	37	5	41927133	41927133	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr5:41927133A>G	ENST00000281623.3	+	2	264	c.208A>G	c.(208-210)Att>Gtt	p.I70V	FBXO4_ENST00000509134.1_Missense_Mutation_p.I70V|FBXO4_ENST00000296812.2_Missense_Mutation_p.I70V	NM_012176.2	NP_036308.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	70	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|telomere maintenance (GO:0000723)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)	p.I70V(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				ACAGCTATATATTTTGTCCTT	0.333																																						uc003jmq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	liver(1)	1						c.(208-210)ATT>GTT		F-box only protein 4 isoform 1							127.0	126.0	126.0					5																	41927133		2203	4300	6503	SO:0001583	missense	26272				positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity	g.chr5:41927133A>G	AF129534	CCDS3938.1, CCDS3939.1, CCDS75238.1	5p12	2008-02-05	2004-06-15		ENSG00000151876	ENSG00000151876		"""F-boxes /  ""other"""""	13583	protein-coding gene	gene with protein product		609090	"""F-box only protein 4"""			10531035, 10531037	Standard	NM_033484		Approved	FBX4	uc003jmq.3	Q9UKT5	OTTHUMG00000094799	ENST00000281623.3:c.208A>G	5.37:g.41927133A>G	ENSP00000281623:p.Ile70Val					FBXO4_uc003jmp.2_Missense_Mutation_p.I70V|FBXO4_uc003jmr.2_Missense_Mutation_p.I70V	p.I70V	NM_012176	NP_036308	Q9UKT5	FBX4_HUMAN			2	264	+		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)	70			F-box.		Q68CU8|Q86VT8|Q9UK98	Missense_Mutation	SNP	ENST00000281623.3	37	c.208A>G	CCDS3938.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.428461	0.83667	.	.	ENSG00000151876	ENST00000296812;ENST00000281623;ENST00000509134	T;T;T	0.69175	-0.38;-0.38;-0.38	5.54	5.54	0.83059	F-box domain, cyclin-like (3);F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.77592	0.4153	L	0.52011	1.625	0.80722	D	1	D;D;D	0.76494	0.997;0.997;0.999	D;D;D	0.85130	0.997;0.994;0.994	T	0.77354	-0.2619	10	0.44086	T	0.13	-6.0075	15.6762	0.77326	1.0:0.0:0.0:0.0	.	70;70;70	D6RAJ6;Q9UKT5;Q9UKT5-2	.;FBX4_HUMAN;.	V	70	ENSP00000296812:I70V;ENSP00000281623:I70V;ENSP00000421749:I70V	ENSP00000281623:I70V	I	+	1	0	FBXO4	41962890	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	5.604000	0.67626	2.102000	0.63906	0.533000	0.62120	ATT		0.333	FBXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211614.1				69	140	0	0	0	0.048971	0	69	140		
VCAN	1462	broad.mit.edu	37	5	82816650	82816650	+	Missense_Mutation	SNP	A	A	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr5:82816650A>T	ENST00000265077.3	+	7	3090	c.2525A>T	c.(2524-2526)gAc>gTc	p.D842V	VCAN_ENST00000512590.2_Missense_Mutation_p.D794V|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.D842V|VCAN_ENST00000343200.5_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	842	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.D842V(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AAGGATAAAGACATCCCAAGT	0.423																																						uc003kii.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(2524-2526)GAC>GTC		versican isoform 1 precursor							107.0	106.0	106.0					5																	82816650		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82816650A>T	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.2525A>T	5.37:g.82816650A>T	ENSP00000265077:p.Asp842Val					VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.D842V|VCAN_uc003kik.3_Intron	p.D842V	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	7	2881	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	842			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.2525A>T	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	A	8.311	0.822035	0.16678	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	T;T;T	0.19394	2.15;2.15;2.15	5.76	5.76	0.90799	.	0.188403	0.37715	N	0.001979	T	0.14098	0.0341	N	0.08118	0	0.40552	D	0.981129	B;B	0.26258	0.145;0.09	B;B	0.32289	0.143;0.031	T	0.14811	-1.0459	10	0.49607	T	0.09	.	13.7478	0.62885	1.0:0.0:0.0:0.0	.	842;842	P13611-3;P13611	.;CSPG2_HUMAN	V	842;842;794	ENSP00000265077:D842V;ENSP00000342768:D842V;ENSP00000425959:D794V	ENSP00000265077:D842V	D	+	2	0	VCAN	82852406	0.958000	0.32768	0.935000	0.37517	0.054000	0.15201	2.282000	0.43461	2.322000	0.78497	0.528000	0.53228	GAC		0.423	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3		NM_004385		20	95	0	0	0	0.049695	0	20	95		
MEF2C	4208	broad.mit.edu	37	5	88047694	88047694	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr5:88047694G>A	ENST00000437473.2	-	5	986	c.569C>T	c.(568-570)cCt>cTt	p.P190L	MEF2C_ENST00000510942.1_Missense_Mutation_p.P190L|MEF2C_ENST00000539796.1_Missense_Mutation_p.P142L|MEF2C_ENST00000514028.1_Missense_Mutation_p.P190L|MEF2C_ENST00000514015.1_Missense_Mutation_p.P190L|MEF2C_ENST00000340208.5_Missense_Mutation_p.P208L|MEF2C_ENST00000424173.2_Missense_Mutation_p.P188L|MEF2C_ENST00000503554.1_5'UTR|MEF2C_ENST00000508569.1_Missense_Mutation_p.P190L|MEF2C_ENST00000504921.2_Missense_Mutation_p.P190L|MEF2C_ENST00000506554.1_Missense_Mutation_p.P190L	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	190					apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|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 transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.P190L(2)|p.P188L(1)		breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TGCACTTGGAGGTCGATGTGT	0.473										HNSCC(66;0.2)																												uc003kjj.2		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	lung(3)|breast(2)|ovary(1)|large_intestine(1)	7						c.(568-570)CCT>CTT		myocyte enhancer factor 2C isoform 1							289.0	280.0	283.0					5																	88047694		2020	4175	6195	SO:0001583	missense	4208				apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic 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	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr5:88047694G>A	AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"""Myocyte enhancer factors"""	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.569C>T	5.37:g.88047694G>A	ENSP00000396219:p.Pro190Leu	HNSCC(66;0.2)				MEF2C_uc003kji.2_Missense_Mutation_p.P190L|MEF2C_uc003kjk.2_Missense_Mutation_p.P190L|MEF2C_uc003kjm.2_Missense_Mutation_p.P188L|MEF2C_uc003kjl.2_Missense_Mutation_p.P208L	p.P190L	NM_002397	NP_002388	Q06413	MEF2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)	5	1242	-		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)	190					C9JMZ0|D7F7N5|F8W7V7	Missense_Mutation	SNP	ENST00000437473.2	37	c.569C>T	CCDS47245.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.841857	0.91197	.	.	ENSG00000081189	ENST00000340208;ENST00000424173;ENST00000504921;ENST00000514028;ENST00000437473;ENST00000510942;ENST00000506554;ENST00000508569;ENST00000514015;ENST00000539796;ENST00000513252;ENST00000506716	T;T;T;T;T;T;T;T;T;T;D;D	0.91351	-0.19;-0.31;-0.4;-0.13;-0.13;-0.45;-0.46;-0.69;-0.46;-0.31;-2.77;-2.83	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.95746	0.8616	M	0.81497	2.545	0.80722	D	1	D;D;D;D	0.89917	0.996;1.0;1.0;1.0	D;D;D;D	0.97110	0.917;0.996;0.996;1.0	D	0.95730	0.8774	10	0.87932	D	0	-3.9243	19.8938	0.96942	0.0:0.0:1.0:0.0	.	188;208;190;190	C9JMZ0;F8W7V7;Q06413;Q06413-2	.;.;MEF2C_HUMAN;.	L	208;188;190;190;190;190;190;190;190;142;188;188	ENSP00000340874:P208L;ENSP00000389610:P188L;ENSP00000421925:P190L;ENSP00000426665:P190L;ENSP00000396219:P190L;ENSP00000422390:P190L;ENSP00000425636:P190L;ENSP00000423597:P190L;ENSP00000424606:P190L;ENSP00000441153:P142L;ENSP00000423826:P188L;ENSP00000423656:P188L	ENSP00000340874:P208L	P	-	2	0	MEF2C	88083450	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.476000	0.97823	2.703000	0.92315	0.460000	0.39030	CCT		0.473	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369817.1		NM_002397		27	246	0	0	0	0.037714	0	27	246		
LRRTM2	26045	broad.mit.edu	37	5	138209838	138209838	+	Missense_Mutation	SNP	A	A	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr5:138209838A>C	ENST00000274711.6	-	2	790	c.412T>G	c.(412-414)Ttg>Gtg	p.L138V	LRRTM2_ENST00000518785.1_Intron|CTNNA1_ENST00000302763.7_Intron|LRRTM2_ENST00000523537.1_Intron|LRRTM2_ENST00000521094.2_Intron|CTNNA1_ENST00000540387.1_5'Flank|CTNNA1_ENST00000355078.5_Intron|CTNNA1_ENST00000520400.1_Intron|CTNNA1_ENST00000518825.1_Intron	NM_015564.2	NP_056379.1	O43300	LRRT2_HUMAN	leucine rich repeat transmembrane neuronal 2	138					long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|synapse organization (GO:0050808)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.L138V(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GACAGGTCCAAATTTTGCAGG	0.398																																						uc011cyz.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(412-414)TTG>GTG		leucine rich repeat transmembrane neuronal 2							57.0	58.0	57.0					5																	138209838		1851	4096	5947	SO:0001583	missense	26045					cell junction|integral to membrane|postsynaptic membrane		g.chr5:138209838A>C	AB007876	CCDS47272.1	5q31	2008-02-05				ENSG00000146006			19409	protein-coding gene	gene with protein product		610868				12676565	Standard	NM_015564		Approved	KIAA0416	uc011cyz.1	O43300		ENST00000274711.6:c.412T>G	5.37:g.138209838A>C	ENSP00000274711:p.Leu138Val					CTNNA1_uc003ldh.2_Intron|CTNNA1_uc011cyx.1_Intron|CTNNA1_uc011cyy.1_Intron|CTNNA1_uc003ldi.2_Intron|CTNNA1_uc003ldj.2_Intron|LRRTM2_uc010jez.2_Intron|LRRTM2_uc011cza.1_Intron|CTNNA1_uc003ldl.2_5'Flank	p.L138V	NM_015564	NP_056379	O43300	LRRT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		2	869	-			138			LRR 4.|Extracellular (Potential).		A0AVL3|A8K4U9|B7ZLN8|Q7L770	Missense_Mutation	SNP	ENST00000274711.6	37	c.412T>G	CCDS47272.1	.	.	.	.	.	.	.	.	.	.	A	8.248	0.808418	0.16467	.	.	ENSG00000146006	ENST00000274711	D	0.81579	-1.51	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000006	T	0.81758	0.4890	M	0.81239	2.535	0.52099	D	0.999941	P	0.37370	0.592	B	0.39660	0.306	T	0.82548	-0.0402	10	0.48119	T	0.1	.	11.4277	0.50020	0.8493:0.1507:0.0:0.0	.	138	O43300	LRRT2_HUMAN	V	138	ENSP00000274711:L138V	ENSP00000274711:L138V	L	-	1	2	LRRTM2	138237737	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.378000	0.44309	2.311000	0.77944	0.533000	0.62120	TTG		0.398	LRRTM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374043.2				18	27	0	0	0	0.038395	0	18	27		
PCDHB5	26167	broad.mit.edu	37	5	140517344	140517344	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr5:140517344G>T	ENST00000231134.5	+	1	2545	c.2328G>T	c.(2326-2328)caG>caT	p.Q776H		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	776					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q776H(1)|p.Q776Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTTGCCCCAGGGCGCTGGTG	0.502																																						uc003liq.2		NaN																	2	Substitution - Missense(1)|Substitution - coding silent(1)		urinary_tract(1)|lung(1)	skin(3)|ovary(2)	5						c.(2326-2328)CAG>CAT		protocadherin beta 5 precursor							102.0	122.0	115.0					5																	140517344		2196	4299	6495	SO:0001583	missense	26167				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140517344G>T	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.2328G>T	5.37:g.140517344G>T	ENSP00000231134:p.Gln776His						p.Q776H	NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2545	+			776			Cytoplasmic (Potential).		Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	c.2328G>T	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	G	8.654	0.898830	0.17686	.	.	ENSG00000113209	ENST00000231134	T	0.51071	0.72	4.71	-0.345	0.12624	.	.	.	.	.	T	0.34890	0.0913	L	0.46947	1.48	0.09310	N	1	B	0.10296	0.003	B	0.15484	0.013	T	0.27938	-1.0059	9	0.42905	T	0.14	.	3.4891	0.07630	0.3137:0.0:0.4096:0.2767	.	776	Q9Y5E4	PCDB5_HUMAN	H	776	ENSP00000231134:Q776H	ENSP00000231134:Q776H	Q	+	3	2	PCDHB5	140497528	0.097000	0.21791	0.000000	0.03702	0.189000	0.23516	0.289000	0.18957	-0.331000	0.08501	0.505000	0.49811	CAG		0.502	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1		NM_015669		86	173	1	0	2.06477e-34	0.048971	2.41454e-34	86	173		
PCDHGA10	56106	broad.mit.edu	37	5	140795157	140795157	+	Missense_Mutation	SNP	A	A	G	rs201666137		TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr5:140795157A>G	ENST00000398610.2	+	1	2415	c.2415A>G	c.(2413-2415)atA>atG	p.I805M	PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_5'Flank|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	805					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I805M(1)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTTTCCTATAGAGGATACCC	0.393																																						uc003lkl.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(2413-2415)ATA>ATG		protocadherin gamma subfamily A, 10 isoform 1		A	,,MET/ILE,,,,,,,,,,,,,,MET/ILE	3,4371		0,3,2184	61.0	64.0	63.0		,,2415,,,,,,,,,,,,,,2415	1.7	0.5	5		63	0,8594		0,0,4297	yes	intron,intron,missense,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,missense	PCDHGB4,PCDHGA8,PCDHGB6,PCDHGB5,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA10,PCDHGA9,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_003736.2,NM_018912.2,NM_018913.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018921.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_018925.2,NM_018926.2,NM_032088.1,NM_032090.1	,,10,,,,,,,,,,,,,,10	0,3,6481	GG,GA,AA		0.0,0.0686,0.0231	,,,,,,,,,,,,,,,,	,,805/937,,,,,,,,,,,,,,805/851	140795157	3,12965	2187	4297	6484	SO:0001583	missense	56106				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140795157A>G		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.2415A>G	5.37:g.140795157A>G	ENSP00000381611:p.Ile805Met					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Missense_Mutation_p.I805M|PCDHGB7_uc003lkm.2_5'Flank|PCDHGB7_uc003lkn.1_5'Flank	p.I805M	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2415	+			805			Cytoplasmic (Potential).		Q9Y5E0	Missense_Mutation	SNP	ENST00000398610.2	37	c.2415A>G	CCDS47292.1	.	.	.	.	.	.	.	.	.	.	a	7.321	0.616997	0.14129	6.86E-4	0.0	ENSG00000253846	ENST00000398610	D	0.94046	-3.34	5.42	1.74	0.24563	.	.	.	.	.	D	0.89570	0.6753	L	0.38838	1.175	0.09310	N	1	B;B	0.33919	0.432;0.278	B;B	0.43575	0.424;0.142	T	0.81439	-0.0932	9	0.51188	T	0.08	.	2.057	0.03583	0.5275:0.1925:0.1701:0.1099	.	805;805	Q9Y5H3-2;Q9Y5H3	.;PCDGA_HUMAN	M	805	ENSP00000381611:I805M	ENSP00000381611:I805M	I	+	3	3	PCDHGA10	140775341	0.014000	0.17966	0.495000	0.27527	0.405000	0.30901	0.058000	0.14301	0.340000	0.23745	0.533000	0.62120	ATA		0.393	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1		NM_018913		12	37	0	0	0	0.105934	0	12	37		
ABLIM3	22885	broad.mit.edu	37	5	148632376	148632376	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr5:148632376G>T	ENST00000506113.1	+	22	2396	c.1914G>T	c.(1912-1914)aaG>aaT	p.K638N	ABLIM3_ENST00000309868.7_Missense_Mutation_p.K638N|ABLIM3_ENST00000508983.1_Missense_Mutation_p.K605N|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000504238.1_Missense_Mutation_p.K527N|ABLIM3_ENST00000326685.7_Missense_Mutation_p.K543N|RP11-331K21.1_ENST00000512647.2_RNA|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000517451.1_Missense_Mutation_p.K124N|ABLIM3_ENST00000356541.3_Missense_Mutation_p.K527N			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	638	HP. {ECO:0000255|PROSITE- ProRule:PRU00595}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)	p.K638N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACTGCCCAAGGATGTAGACA	0.488																																						uc003lpy.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(1912-1914)AAG>AAT		actin binding LIM protein family, member 3							111.0	110.0	110.0					5																	148632376		2203	4300	6503	SO:0001583	missense	22885				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding	g.chr5:148632376G>T	AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.1914G>T	5.37:g.148632376G>T	ENSP00000425394:p.Lys638Asn					ABLIM3_uc003lpz.1_Missense_Mutation_p.K638N|ABLIM3_uc003lqa.1_Missense_Mutation_p.K535N|ABLIM3_uc003lqb.2_Missense_Mutation_p.K527N|ABLIM3_uc003lqc.1_Missense_Mutation_p.K605N|ABLIM3_uc003lqd.1_Missense_Mutation_p.K543N|ABLIM3_uc003lqf.2_Missense_Mutation_p.K527N|ABLIM3_uc003lqe.1_Missense_Mutation_p.K527N	p.K638N	NM_014945	NP_055760	O94929	ABLM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		23	2165	+			638			HP.		A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Missense_Mutation	SNP	ENST00000506113.1	37	c.1914G>T	CCDS4294.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.764901	0.69878	.	.	ENSG00000173210	ENST00000326685;ENST00000356541;ENST00000309868;ENST00000506113;ENST00000504238;ENST00000508983;ENST00000517451;ENST00000536903	T;T;T;T;T;T;T	0.59224	0.45;0.28;0.51;0.51;0.28;0.51;0.8	4.98	1.13	0.20643	Villin headpiece (3);	0.000000	0.85682	D	0.000000	T	0.68155	0.2970	M	0.76002	2.32	0.50171	D	0.999858	P;D;D;D	0.67145	0.921;0.996;0.996;0.969	B;D;D;P	0.77557	0.386;0.99;0.99;0.643	T	0.65253	-0.6213	10	0.62326	D	0.03	.	4.5148	0.11930	0.3648:0.0:0.487:0.1482	.	124;543;527;638	O94929-4;O94929-3;O94929-2;O94929	.;.;.;ABLM3_HUMAN	N	543;527;638;638;527;605;124;123	ENSP00000315841:K543N;ENSP00000348938:K527N;ENSP00000310309:K638N;ENSP00000425394:K638N;ENSP00000421183:K527N;ENSP00000420855:K605N;ENSP00000430150:K124N	ENSP00000310309:K638N	K	+	3	2	ABLIM3	148612569	0.997000	0.39634	0.999000	0.59377	0.980000	0.70556	0.425000	0.21346	0.355000	0.24131	0.650000	0.86243	AAG		0.488	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1		NM_014945		34	98	1	0	1.36615e-20	0.054565	1.53871e-20	34	98		
FAT2	2196	broad.mit.edu	37	5	150934193	150934193	+	Silent	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr5:150934193G>A	ENST00000261800.5	-	4	3687	c.3675C>T	c.(3673-3675)acC>acT	p.T1225T		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1225	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T1225T(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCACCCTGGAGGTGGACTTCA	0.517																																						uc003lue.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(3673-3675)ACC>ACT		FAT tumor suppressor 2 precursor							117.0	105.0	109.0					5																	150934193		2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150934193G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.3675C>T	5.37:g.150934193G>A						GM2A_uc011dcs.1_Intron	p.T1225T	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	3688	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1225			Extracellular (Potential).|Cadherin 10.		O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.3675C>T	CCDS4317.1																																																																																				0.517	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1		NM_001447		24	155	0	0	0	0.083992	0	24	155		
HK3	3101	broad.mit.edu	37	5	176314051	176314051	+	Silent	SNP	T	T	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr5:176314051T>A	ENST00000292432.5	-	13	1900	c.1809A>T	c.(1807-1809)ccA>ccT	p.P603P		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	603	Catalytic.|Glucose-binding. {ECO:0000255}.|Hexokinase type-1 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)	p.P603P(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TAAAACCCAGTGGGAGGCTCT	0.607																																						uc003mfa.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7						c.(1807-1809)CCA>CCT		hexokinase 3							76.0	68.0	71.0					5																	176314051		2203	4300	6503	SO:0001819	synonymous_variant	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176314051T>A		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.1809A>T	5.37:g.176314051T>A						HK3_uc003mez.2_Silent_p.P159P	p.P603P	NM_002115	NP_002106	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		13	1901	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	603			Glucose-binding (Potential).|Catalytic.		Q8N1E7	Silent	SNP	ENST00000292432.5	37	c.1809A>T	CCDS4407.1																																																																																				0.607	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1				14	41	0	0	0	0.020292	0	14	41		
SLC34A1	6569	broad.mit.edu	37	5	176813554	176813554	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr5:176813554G>A	ENST00000324417.5	+	5	610	c.519G>A	c.(517-519)atG>atA	p.M173I	SLC34A1_ENST00000512593.1_Missense_Mutation_p.M173I	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	173					arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)	p.M173I(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			TCGTCAGCATGGTCTCCTCTG	0.647																																						uc003mgk.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(517-519)ATG>ATA		solute carrier family 34 (sodium phosphate),							72.0	69.0	70.0					5																	176813554		2203	4300	6503	SO:0001583	missense	6569				phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity	g.chr5:176813554G>A	L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"""Solute carriers"""	11019	protein-coding gene	gene with protein product	"""sodium/phosphate co-transporter"", ""solute carrier family 17 (sodium phosphate), member 2"", ""Na+-phosphate cotransporter type II"""	182309	"""solute carrier family 34 (sodium phosphate), member 1"""	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.519G>A	5.37:g.176813554G>A	ENSP00000321424:p.Met173Ile						p.M173I	NM_003052	NP_003043	Q06495	NPT2A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	620	+	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	173			Helical; Name=M3; (Potential).		B4DPE3	Missense_Mutation	SNP	ENST00000324417.5	37	c.519G>A	CCDS4418.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928530	0.92389	.	.	ENSG00000131183	ENST00000512593;ENST00000324417	D;D	0.85773	-2.03;-2.03	5.46	5.46	0.80206	.	0.050044	0.85682	D	0.000000	D	0.85366	0.5680	L	0.58101	1.795	0.49687	D	0.99981	P	0.38250	0.624	B	0.39590	0.304	D	0.85886	0.1425	10	0.56958	D	0.05	-22.4934	19.6805	0.95960	0.0:0.0:1.0:0.0	.	173	Q06495	NPT2A_HUMAN	I	173	ENSP00000423022:M173I;ENSP00000321424:M173I	ENSP00000321424:M173I	M	+	3	0	SLC34A1	176746160	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.603000	0.67619	2.724000	0.93272	0.563000	0.77884	ATG		0.647	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253431.1		NM_003052		18	111	0	0	0	0.043863	0	18	111		
TTBK1	84630	broad.mit.edu	37	6	43226925	43226925	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr6:43226925T>C	ENST00000259750.4	+	11	1249	c.1166T>C	c.(1165-1167)gTc>gCc	p.V389A	TTBK1_ENST00000304139.5_Missense_Mutation_p.V338A	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	389					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.V389A(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCCCACCTTGTCCCCCACCCC	0.632																																						uc003ouq.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9						c.(1165-1167)GTC>GCC		tau tubulin kinase 1							48.0	57.0	54.0					6																	43226925		2203	4300	6503	SO:0001583	missense	84630					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:43226925T>C	AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.1166T>C	6.37:g.43226925T>C	ENSP00000259750:p.Val389Ala						p.V389A	NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)		11	1445	+			389					A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	c.1166T>C	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	T	6.266	0.417161	0.11870	.	.	ENSG00000146216	ENST00000393984;ENST00000259750;ENST00000304139	T	0.51574	0.7	5.14	-0.454	0.12197	.	0.676627	0.13766	N	0.364237	T	0.05777	0.0151	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43491	-0.9388	10	0.06891	T	0.86	.	9.5265	0.39167	0.0:0.4352:0.0:0.5648	.	389	Q5TCY1	TTBK1_HUMAN	A	338;389;338	ENSP00000259750:V389A	ENSP00000259750:V389A	V	+	2	0	TTBK1	43334903	0.000000	0.05858	0.033000	0.17914	0.970000	0.65996	-0.977000	0.03782	-0.445000	0.07159	-0.388000	0.06559	GTC		0.632	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3				10	81	0	0	0	0.069234	0	10	81		
TMEM30A	55754	broad.mit.edu	37	6	75977363	75977363	+	Silent	SNP	T	T	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr6:75977363T>C	ENST00000230461.6	-	2	668	c.339A>G	c.(337-339)tcA>tcG	p.S113S	TMEM30A_ENST00000475111.2_Intron|TMEM30A_ENST00000370050.5_5'UTR	NM_018247.3	NP_060717.1	Q9NV96	CC50A_HUMAN	transmembrane protein 30A	113					drug transmembrane transport (GO:0006855)|phospholipid translocation (GO:0045332)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endosome (GO:0036010)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.S113S(1)		NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGACCTCAAATGACTTTTCCA	0.358																																						uc003phw.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(337-339)TCA>TCG		transmembrane protein 30A isoform 1							128.0	133.0	131.0					6																	75977363		2203	4300	6503	SO:0001819	synonymous_variant	55754					integral to membrane		g.chr6:75977363T>C	AK001718	CCDS4983.1, CCDS47453.1	6q14.1	2014-01-28	2004-06-17	2004-06-18	ENSG00000112697	ENSG00000112697			16667	protein-coding gene	gene with protein product		611028	"""chromosome 6 open reading frame 67"""	C6orf67		15375526	Standard	NM_001143958		Approved	FLJ10856, CDC50A	uc003phw.2	Q9NV96	OTTHUMG00000015050	ENST00000230461.6:c.339A>G	6.37:g.75977363T>C						TMEM30A_uc003phx.2_Intron	p.S113S	NM_018247	NP_060717	Q9NV96	CC50A_HUMAN			2	617	-			113					A8K9V8|E1P539|Q658Z3|Q96H09|Q9NSL9	Silent	SNP	ENST00000230461.6	37	c.339A>G	CCDS4983.1																																																																																				0.358	TMEM30A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041248.2		NM_018247		34	172	0	0	0	0.074837	0	34	172		
TTK	7272	broad.mit.edu	37	6	80723066	80723066	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr6:80723066G>T	ENST00000369798.2	+	9	1078	c.967G>T	c.(967-969)Gaa>Taa	p.E323*	TTK_ENST00000509894.1_Nonsense_Mutation_p.E323*|TTK_ENST00000230510.3_Nonsense_Mutation_p.E323*	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	323					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.E323*(1)|p.E307*(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TGATTCCTGTGAATTAAGAAA	0.353																																						uc003pjc.2		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)	ovary(4)|stomach(2)|lung(2)|large_intestine(2)|pancreas(1)	11						c.(967-969)GAA>TAA		TTK protein kinase							82.0	95.0	91.0					6																	80723066		2202	4294	6496	SO:0001587	stop_gained	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80723066G>T		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.967G>T	6.37:g.80723066G>T	ENSP00000358813:p.Glu323*					TTK_uc003pjb.3_Nonsense_Mutation_p.E323*	p.E323*	NM_003318	NP_003309	P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	9	1041	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	323					A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Nonsense_Mutation	SNP	ENST00000369798.2	37	c.967G>T	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	G	46	12.688400	0.99688	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	.	.	.	5.63	5.63	0.86233	.	0.164239	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	15.5305	0.75956	0.0:0.0:1.0:0.0	.	.	.	.	X	323	.	ENSP00000230510:E323X	E	+	1	0	TTK	80779785	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	3.704000	0.54815	2.805000	0.96524	0.655000	0.94253	GAA		0.353	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2				44	127	1	0	1.35964e-18	0.048971	1.50758e-18	44	127		
UFL1	23376	broad.mit.edu	37	6	96990871	96990871	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr6:96990871G>A	ENST00000369278.4	+	12	1447	c.1381G>A	c.(1381-1383)Gaa>Aaa	p.E461K		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	461					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)	p.E461K(1)									TAGTGATGATGAATCTCAATC	0.373																																						uc003por.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1381-1383)GAA>AAA		hypothetical protein LOC23376							101.0	100.0	101.0					6																	96990871		2203	4300	6503	SO:0001583	missense	23376				negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity	g.chr6:96990871G>A	BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"""novel LZAP-binding protein"", ""Regulator of CDK5RAP3 and DDRGK1"""	613372	"""KIAA0776"""	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.1381G>A	6.37:g.96990871G>A	ENSP00000358283:p.Glu461Lys					KIAA0776_uc010kck.2_RNA	p.E461K	NM_015323	NP_056138	O94874	UFL1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0934)	12	1429	+		all_cancers(76;5.83e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0604)|Colorectal(196;0.0721)	461					A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Missense_Mutation	SNP	ENST00000369278.4	37	c.1381G>A	CCDS5034.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.005235	0.54254	.	.	ENSG00000014123	ENST00000369278	T	0.47869	0.83	5.92	5.92	0.95590	.	0.043306	0.85682	D	0.000000	T	0.40171	0.1106	M	0.70595	2.14	0.80722	D	1	B	0.30851	0.297	B	0.33890	0.172	T	0.26643	-1.0097	10	0.25106	T	0.35	-17.4778	19.3156	0.94211	0.0:0.0:1.0:0.0	.	461	O94874	UFL1_HUMAN	K	461	ENSP00000358283:E461K	ENSP00000358283:E461K	E	+	1	0	KIAA0776	97097592	1.000000	0.71417	0.997000	0.53966	0.029000	0.11900	8.502000	0.90505	2.799000	0.96334	0.655000	0.94253	GAA		0.373	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041557.1		NM_015323		43	92	0	0	0	0.048971	0	43	92		
STXBP5	134957	broad.mit.edu	37	6	147704100	147704100	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr6:147704100C>G	ENST00000321680.6	+	27	3380	c.3380C>G	c.(3379-3381)tCa>tGa	p.S1127*	STXBP5_ENST00000367480.3_Nonsense_Mutation_p.S1074*|STXBP5_ENST00000367481.3_Nonsense_Mutation_p.S1091*|STXBP5_ENST00000179882.6_Nonsense_Mutation_p.S782*	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	1127	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)	p.S1091*(1)|p.S1127*(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GCCATGTTATCAAGTGCAGAG	0.428																																						uc003qlz.2		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)		0						c.(3379-3381)TCA>TGA		syntaxin binding protein 5 (tomosyn) isoform b							89.0	90.0	89.0					6																	147704100		2203	4300	6503	SO:0001587	stop_gained	134957				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147704100C>G	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.3380C>G	6.37:g.147704100C>G	ENSP00000321826:p.Ser1127*					STXBP5_uc010khz.1_Nonsense_Mutation_p.S1091*|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Nonsense_Mutation_p.S782*	p.S1127*	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	27	3541	+		Ovarian(120;0.0164)	1127			v-SNARE coiled-coil homology.		Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Nonsense_Mutation	SNP	ENST00000321680.6	37	c.3380C>G	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	C	39	7.694176	0.98438	.	.	ENSG00000164506	ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882	.	.	.	5.25	5.25	0.73442	.	0.176648	0.50627	D	0.000107	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	14.9711	0.71235	0.1516:0.8484:0.0:0.0	.	.	.	.	X	1091;1127;1074;782	.	ENSP00000179882:S782X	S	+	2	0	STXBP5	147745793	1.000000	0.71417	0.987000	0.45799	0.875000	0.50365	4.941000	0.63540	2.617000	0.88574	0.460000	0.39030	TCA		0.428	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1				38	53	0	0	0	0.080422	0	38	53		
GINM1	116254	broad.mit.edu	37	6	149893469	149893469	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr6:149893469T>C	ENST00000367419.5	+	2	290	c.169T>C	c.(169-171)Tct>Cct	p.S57P		NM_138785.3	NP_620140.1	Q9NU53	GINM1_HUMAN	glycoprotein integral membrane 1	57						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.S57P(1)									TGGGGACATATCTAAACAGCA	0.343																																						uc003qmq.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(169-171)TCT>CCT		hypothetical protein LOC116254 precursor							141.0	139.0	140.0					6																	149893469		2203	4300	6503	SO:0001583	missense	116254					integral to membrane		g.chr6:149893469T>C	BC014320	CCDS5216.1	6q24.3	2012-07-20	2012-07-20	2012-07-20	ENSG00000055211	ENSG00000055211			21074	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 72"""	C6orf72			Standard	NM_138785		Approved	dJ12G14.2	uc003qmq.1	Q9NU53	OTTHUMG00000015789	ENST00000367419.5:c.169T>C	6.37:g.149893469T>C	ENSP00000356389:p.Ser57Pro					C6orf72_uc010kie.1_Intron	p.S57P	NM_138785	NP_620140	Q9NU53	CF072_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.66e-12)|GBM - Glioblastoma multiforme(68;0.171)	2	196	+		Ovarian(120;0.0907)	57			Extracellular (Potential).		B2RDY7|E1P5A2	Missense_Mutation	SNP	ENST00000367419.5	37	c.169T>C	CCDS5216.1	.	.	.	.	.	.	.	.	.	.	T	10.59	1.393182	0.25118	.	.	ENSG00000055211	ENST00000367419	.	.	.	5.8	3.37	0.38596	.	0.657614	0.15391	N	0.264785	T	0.25680	0.0625	L	0.60455	1.87	0.09310	N	1	D	0.65815	0.995	P	0.55161	0.77	T	0.14699	-1.0463	8	.	.	.	-9.1817	2.6975	0.05139	0.0:0.1651:0.2864:0.5485	.	57	Q9NU53	CF072_HUMAN	P	57	.	.	S	+	1	0	C6orf72	149935162	0.498000	0.26075	0.004000	0.12327	0.011000	0.07611	2.099000	0.41767	0.972000	0.38314	0.528000	0.53228	TCT		0.343	GINM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042644.1		NM_138785		25	51	0	0	0	0.076483	0	25	51		
PACRG	135138	broad.mit.edu	37	6	163235240	163235240	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr6:163235240G>A	ENST00000337019.3	+	3	442	c.218G>A	c.(217-219)cGa>cAa	p.R73Q	PACRG_ENST00000366888.2_Missense_Mutation_p.R73Q|PACRG_ENST00000542669.1_3'UTR|PACRG_ENST00000366889.2_Missense_Mutation_p.R73Q	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	73					spermatid development (GO:0007286)	cell body (GO:0044297)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm midpiece (GO:0097225)		p.R73Q(1)		endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		ACAGCATTTCGAAAATTCTAT	0.468																																						uc003qua.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(217-219)CGA>CAA		parkin co-regulated gene protein isoform 1							104.0	109.0	107.0					6																	163235240		2203	4300	6503	SO:0001583	missense	135138							g.chr6:163235240G>A	AK057286	CCDS5284.1, CCDS43524.1	6q26	2004-07-01			ENSG00000112530	ENSG00000112530			19152	protein-coding gene	gene with protein product		608427				12547187	Standard	NM_001080378		Approved	PARK2CRG, FLJ32724, Glup, HAK005771	uc003qua.3	Q96M98	OTTHUMG00000016116	ENST00000337019.3:c.218G>A	6.37:g.163235240G>A	ENSP00000337946:p.Arg73Gln					PACRG_uc003qub.2_Missense_Mutation_p.R73Q|PACRG_uc003quc.2_Missense_Mutation_p.R73Q	p.R73Q	NM_152410	NP_689623	Q96M98	PACRG_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)	3	442	+		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)	73					E1P5B5|Q6IMB8|Q8IZM1|Q8NHP5|Q9H1V9	Missense_Mutation	SNP	ENST00000337019.3	37	c.218G>A	CCDS5284.1	.	.	.	.	.	.	.	.	.	.	G	33	5.260726	0.95368	.	.	ENSG00000112530	ENST00000337019;ENST00000366889;ENST00000366888	T	0.52057	0.68	5.66	5.66	0.87406	.	0.061993	0.64402	D	0.000004	T	0.67608	0.2911	M	0.81942	2.565	0.58432	D	0.999994	D;D	0.89917	0.998;1.0	P;D	0.80764	0.876;0.994	T	0.69709	-0.5072	10	0.59425	D	0.04	-9.399	19.7468	0.96255	0.0:0.0:1.0:0.0	.	73;73	Q96M98-2;Q96M98	.;PACRG_HUMAN	Q	73	ENSP00000337946:R73Q	ENSP00000337946:R73Q	R	+	2	0	PACRG	163155230	1.000000	0.71417	0.985000	0.45067	0.991000	0.79684	6.715000	0.74697	2.678000	0.91216	0.563000	0.77884	CGA		0.468	PACRG-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400424.1		NM_152410		42	199	0	0	0	0.039052	0	42	199		
YAE1D1	57002	broad.mit.edu	37	7	39612007	39612007	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr7:39612007C>G	ENST00000223273.2	+	3	426	c.383C>G	c.(382-384)tCc>tGc	p.S128C	YAE1D1_ENST00000432096.2_Intron|YAE1D1_ENST00000448268.1_3'UTR	NM_020192.3	NP_064577.1	Q9NRH1	YAED1_HUMAN	Yae1 domain containing 1	128								p.S128C(1)									ACTCCACCGTCCCATGTTGTA	0.373																																						uc003thc.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(382-384)TCC>TGC		hypothetical protein LOC57002							134.0	125.0	128.0					7																	39612007		2203	4300	6503	SO:0001583	missense	57002							g.chr7:39612007C>G	AF226046	CCDS5459.1, CCDS64630.1	7p14.1	2011-11-24	2011-11-24	2011-11-24	ENSG00000241127	ENSG00000241127			24857	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 36"""	C7orf36		12477932	Standard	NM_020192		Approved	GK003	uc003thc.4	Q9NRH1	OTTHUMG00000128689	ENST00000223273.2:c.383C>G	7.37:g.39612007C>G	ENSP00000223273:p.Ser128Cys						p.S128C	NM_020192	NP_064577	Q9NRH1	CG036_HUMAN			3	392	+			128					A4D1W4|B4DE83|Q6IAF7|Q8WVZ5	Missense_Mutation	SNP	ENST00000223273.2	37	c.383C>G	CCDS5459.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.905254	0.52333	.	.	ENSG00000241127	ENST00000223273	T	0.45668	0.89	5.93	5.05	0.67936	.	0.205275	0.52532	D	0.000068	T	0.28134	0.0694	N	0.08118	0	0.80722	D	1	P	0.44877	0.845	B	0.43754	0.43	T	0.14504	-1.0470	10	0.72032	D	0.01	-8.4127	12.8427	0.57813	0.0:0.9257:0.0:0.0743	.	128	Q9NRH1	CG036_HUMAN	C	128	ENSP00000223273:S128C	ENSP00000223273:S128C	S	+	2	0	C7orf36	39578532	0.061000	0.20836	0.310000	0.25168	0.926000	0.56050	2.825000	0.48096	2.826000	0.97356	0.655000	0.94253	TCC		0.373	YAE1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250586.1		NM_020192		44	119	0	0	0	0.042209	0	44	119		
GCK	2645	broad.mit.edu	37	7	44190672	44190672	+	Silent	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr7:44190672G>A	ENST00000403799.3	-	4	835	c.366C>T	c.(364-366)ctC>ctT	p.L122L	GCK_ENST00000437084.1_Intron|GCK_ENST00000345378.2_Silent_p.L123L|GCK_ENST00000476008.1_5'Flank|GCK_ENST00000395796.3_Silent_p.L121L	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	122	Hexokinase type-1.				calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)	p.L122L(1)|p.L123L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						TGTAGTCGAAGAGCTGGAAGA	0.587																																						uc003tkl.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	skin(3)|lung(1)	4						c.(364-366)CTC>CTT		glucokinase isoform 1							91.0	75.0	80.0					7																	44190672		2203	4300	6503	SO:0001819	synonymous_variant	2645				cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	g.chr7:44190672G>A	AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"""maturity onset diabetes of the young 2"""	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.366C>T	7.37:g.44190672G>A						GCK_uc003tkj.1_Silent_p.L121L|GCK_uc003tkk.1_Silent_p.L123L	p.L122L	NM_000162	NP_000153	P35557	HXK4_HUMAN			4	836	-			122					A4D2J2|A4D2J3|Q05810	Silent	SNP	ENST00000403799.3	37	c.366C>T	CCDS5479.1																																																																																				0.587	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251069.2				30	44	0	0	0	0.034045	0	30	44		
NAT16	375607	broad.mit.edu	37	7	100817986	100817986	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr7:100817986C>T	ENST00000300303.2	-	2	341	c.103G>A	c.(103-105)Gag>Aag	p.E35K	NAT16_ENST00000455377.1_Missense_Mutation_p.E35K|NAT16_ENST00000443096.1_Missense_Mutation_p.E35K	NM_198571.2	NP_940973.2	Q8N8M0	NAT16_HUMAN	N-acetyltransferase 16 (GCN5-related, putative)	35							N-acetyltransferase activity (GO:0008080)	p.E35K(1)									GCCTCCACCTCCTGTGGCCGG	0.637																																						uc003uxy.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(103-105)GAG>AAG		hypothetical protein LOC375607							55.0	59.0	57.0					7																	100817986		2203	4300	6503	SO:0001583	missense	375607						N-acetyltransferase activity	g.chr7:100817986C>T	AK096556	CCDS5713.1	7q22.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000167011	ENSG00000167011			22030	protein-coding gene	gene with protein product		615783	"""chromosome 7 open reading frame 52"""	C7orf52			Standard	NM_198571		Approved	FLJ39237	uc003uxy.2	Q8N8M0	OTTHUMG00000157110	ENST00000300303.2:c.103G>A	7.37:g.100817986C>T	ENSP00000300303:p.Glu35Lys					C7orf52_uc003uxz.1_Missense_Mutation_p.E35K|C7orf52_uc003uya.1_Missense_Mutation_p.E35K|C7orf52_uc003uyb.1_Missense_Mutation_p.E35K	p.E35K	NM_198571	NP_940973	Q8N8M0	CG052_HUMAN			2	342	-	Lung NSC(181;0.168)|all_lung(186;0.215)		35					B3KRS2|Q8NDR1	Missense_Mutation	SNP	ENST00000300303.2	37	c.103G>A	CCDS5713.1	.	.	.	.	.	.	.	.	.	.	A	10.32	1.316450	0.23908	.	.	ENSG00000167011	ENST00000300303;ENST00000455377;ENST00000444446;ENST00000443096	T;T;T;T	0.54479	0.57;0.57;0.64;0.66	3.07	2.17	0.27698	.	.	.	.	.	T	0.25269	0.0614	N	0.08118	0	0.19945	N	0.999942	B;B	0.26445	0.149;0.072	B;B	0.24701	0.017;0.055	T	0.24368	-1.0162	9	0.07482	T	0.82	.	5.9901	0.19456	0.0:0.8495:0.0:0.1505	.	35;35	B3KRS2;Q8N8M0	.;CG052_HUMAN	K	35	ENSP00000300303:E35K;ENSP00000395125:E35K;ENSP00000391769:E35K;ENSP00000394435:E35K	ENSP00000300303:E35K	E	-	1	0	C7orf52	100604706	0.000000	0.05858	0.397000	0.26308	0.671000	0.39405	0.554000	0.23407	0.631000	0.30412	0.407000	0.27541	GAG		0.637	NAT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347465.1		NM_198571		23	127	0	0	0	0.069288	0	23	127		
TFEC	22797	broad.mit.edu	37	7	115596823	115596823	+	Missense_Mutation	SNP	A	A	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr7:115596823A>T	ENST00000265440.7	-	4	472	c.292T>A	c.(292-294)Tat>Aat	p.Y98N	TFEC_ENST00000484212.1_Missense_Mutation_p.Y188N|TFEC_ENST00000457268.1_Missense_Mutation_p.Y31N|TFEC_ENST00000393485.1_Missense_Mutation_p.Y69N|TFEC_ENST00000320239.7_Missense_Mutation_p.Y69N	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	98	Necessary for transcriptional transactivation.				cellular response to heat (GO:0034605)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.Y98N(1)		NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			TCACCGCTATACACATCCAAA	0.323																																						uc003vhj.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)	1						c.(292-294)TAT>AAT		transcription factor EC isoform a							92.0	88.0	90.0					7																	115596823		2203	4299	6502	SO:0001583	missense	22797					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr7:115596823A>T	D43945	CCDS5762.1, CCDS34738.1, CCDS59076.1	7q31.2	2013-05-21			ENSG00000105967	ENSG00000105967		"""Basic helix-loop-helix proteins"""	11754	protein-coding gene	gene with protein product		604732				9256061	Standard	NM_012252		Approved	TCFEC, TFECL, bHLHe34	uc003vhj.2	O14948	OTTHUMG00000023518	ENST00000265440.7:c.292T>A	7.37:g.115596823A>T	ENSP00000265440:p.Tyr98Asn					TFEC_uc003vhk.1_Missense_Mutation_p.Y69N|TFEC_uc003vhl.3_Missense_Mutation_p.Y69N|TFEC_uc011kmw.1_Missense_Mutation_p.Y188N|TFEC_uc003vhm.1_RNA	p.Y98N	NM_012252	NP_036384	O14948	TFEC_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		4	476	-			98			Necessary for transcriptional transactivation.		B2R8X5|Q5H9U8|Q709A4|Q8N6J9	Missense_Mutation	SNP	ENST00000265440.7	37	c.292T>A	CCDS5762.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.407270	0.83230	.	.	ENSG00000105967	ENST00000265440;ENST00000457268;ENST00000320239;ENST00000393485;ENST00000484212	T;T;T;T;T	0.23348	1.91;1.94;1.99;2.44;2.17	5.19	5.19	0.71726	.	0.134965	0.51477	D	0.000085	T	0.54838	0.1883	M	0.85041	2.73	0.50813	D	0.999895	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.97110	0.997;1.0;0.999;0.997	T	0.61441	-0.7062	10	0.59425	D	0.04	-10.1515	13.8992	0.63792	1.0:0.0:0.0:0.0	.	188;69;69;98	B7Z757;O14948-3;O14948-2;O14948	.;.;.;TFEC_HUMAN	N	98;31;69;69;188	ENSP00000265440:Y98N;ENSP00000387650:Y31N;ENSP00000318676:Y69N;ENSP00000377125:Y69N;ENSP00000417432:Y188N	ENSP00000265440:Y98N	Y	-	1	0	TFEC	115384059	1.000000	0.71417	0.964000	0.40570	0.979000	0.70002	7.834000	0.86773	2.070000	0.61991	0.482000	0.46254	TAT		0.323	TFEC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000059839.4		NM_012252		33	59	0	0	0	0.069456	0	33	59		
SMO	6608	broad.mit.edu	37	7	128850949	128850949	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr7:128850949C>A	ENST00000249373.3	+	10	2076	c.1796C>A	c.(1795-1797)cCc>cAc	p.P599H	RP11-286H14.8_ENST00000466717.1_RNA	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	599					adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.P599H(1)		biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	CACGACGGGCCCGTGGGTGAG	0.632			Mis		skin basal cell																																	uc003vor.2		NaN		Dom	yes		7	7q31-q32	6608	Mis	smoothened homolog (Drosophila)			E			skin basal cell 		1	Substitution - Missense(1)		urinary_tract(1)	skin(19)|large_intestine(10)|central_nervous_system(3)|upper_aerodigestive_tract(2)|biliary_tract(1)|lung(1)|liver(1)	37						c.(1795-1797)CCC>CAC		smoothened precursor							77.0	70.0	72.0					7																	128850949		2203	4300	6503	SO:0001583	missense	6608				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr7:128850949C>A	U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"""GPCR / Class F : Frizzled receptors"""	11119	protein-coding gene	gene with protein product	"""frizzled family member 11"""	601500	"""smoothened (Drosophila) homolog"", ""smoothened homolog (Drosophila)"", ""smoothened, seven transmembrane spanning receptor"", ""smoothened, frizzled family receptor"""	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.1796C>A	7.37:g.128850949C>A	ENSP00000249373:p.Pro599His					SMO_uc003vos.2_Missense_Mutation_p.P274H	p.P599H	NM_005631	NP_005622	Q99835	SMO_HUMAN			10	2076	+			599			Cytoplasmic (Potential).		A4D1K5	Missense_Mutation	SNP	ENST00000249373.3	37	c.1796C>A	CCDS5811.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430003	0.83776	.	.	ENSG00000128602	ENST00000249373	D	0.84660	-1.88	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.92224	0.7534	M	0.73217	2.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.92411	0.5937	10	0.87932	D	0	.	19.0419	0.93004	0.0:1.0:0.0:0.0	.	599;599	A4D1K5;Q99835	.;SMO_HUMAN	H	599	ENSP00000249373:P599H	ENSP00000249373:P599H	P	+	2	0	SMO	128638185	1.000000	0.71417	0.990000	0.47175	0.411000	0.31082	7.374000	0.79633	2.758000	0.94735	0.561000	0.74099	CCC		0.632	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350986.1		NM_005631		38	89	1	0	6.29468e-14	0.074837	6.83788e-14	38	89		
TTC26	79989	broad.mit.edu	37	7	138822608	138822608	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr7:138822608G>A	ENST00000464848.1	+	3	237	c.157G>A	c.(157-159)Ggg>Agg	p.G53R	TTC26_ENST00000478836.2_Missense_Mutation_p.G53R|TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000343187.4_Intron|TTC26_ENST00000430935.1_Missense_Mutation_p.G53R|TTC26_ENST00000474035.2_Missense_Mutation_p.G53R|TTC26_ENST00000495038.1_Missense_Mutation_p.G53R			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	53					cilium assembly (GO:0042384)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle B (GO:0030992)|primary cilium (GO:0072372)		p.G53R(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						ACGTCATGTTGGGGAAGAAGA	0.328																																						uc003vus.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(157-159)GGG>AGG		tetratricopeptide repeat domain 26 isoform 1							150.0	147.0	148.0					7																	138822608		2203	4300	6503	SO:0001583	missense	79989						binding	g.chr7:138822608G>A	AK022633	CCDS5852.1, CCDS55172.1, CCDS55173.1, CCDS75665.1	7q34	2013-01-11			ENSG00000105948	ENSG00000105948		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	21882	protein-coding gene	gene with protein product							Standard	NM_001144920		Approved	FLJ12571, dyf-13, DYF13	uc003vus.2	A0AVF1	OTTHUMG00000157472	ENST00000464848.1:c.157G>A	7.37:g.138822608G>A	ENSP00000419279:p.Gly53Arg					TTC26_uc003vuq.2_Missense_Mutation_p.G53R|TTC26_uc011kqm.1_Missense_Mutation_p.G53R|TTC26_uc003vur.3_Missense_Mutation_p.G53R|TTC26_uc011kqn.1_Missense_Mutation_p.G53R|TTC26_uc011kqo.1_Intron|TTC26_uc011kqp.1_5'UTR|TTC26_uc003vut.2_5'UTR|TTC26_uc011kqq.1_Missense_Mutation_p.G53R	p.G53R	NM_024926	NP_079202	A0AVF1	TTC26_HUMAN			3	271	+			53					A4D1S3|B7Z5M0|C9J2N7|F8W724|Q9H9S8|Q9NTC0	Missense_Mutation	SNP	ENST00000464848.1	37	c.157G>A	CCDS5852.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.018670	0.93404	.	.	ENSG00000105948	ENST00000430935;ENST00000495038;ENST00000474035;ENST00000478836;ENST00000464848	T;T;T;T	0.46451	0.87;1.58;1.21;0.88	6.05	6.05	0.98169	Tetratricopeptide-like helical (1);	0.120530	0.64402	D	0.000017	T	0.64483	0.2602	M	0.71296	2.17	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	T	0.55101	-0.8193	10	0.21014	T	0.42	.	19.3801	0.94529	0.0:0.0:1.0:0.0	.	53;53;53;53;53	B7Z2T3;C9J2N7;B7Z6R6;A0AVF1;Q96CU4	.;.;.;TTC26_HUMAN;.	R	53	ENSP00000410655:G53R;ENSP00000418788:G53R;ENSP00000419178:G53R;ENSP00000419279:G53R	ENSP00000410655:G53R	G	+	1	0	TTC26	138473148	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.810000	0.91950	2.880000	0.98712	0.655000	0.94253	GGG		0.328	TTC26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348919.2		NM_024926		30	105	0	0	0	0.054565	0	30	105		
TRPV5	56302	broad.mit.edu	37	7	142622811	142622811	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr7:142622811G>A	ENST00000265310.1	-	8	1283	c.935C>T	c.(934-936)cCa>cTa	p.P312L	TRPV5_ENST00000442623.1_Missense_Mutation_p.P312L	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	312					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.P312L(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CTCCTTCACTGGGGTCTGTTC	0.527																																						uc003wby.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|central_nervous_system(2)|skin(1)	6						c.(934-936)CCA>CTA		transient receptor potential cation channel,							91.0	81.0	85.0					7																	142622811		2203	4300	6503	SO:0001583	missense	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142622811G>A	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.935C>T	7.37:g.142622811G>A	ENSP00000265310:p.Pro312Leu					TRPV5_uc003wbz.2_Missense_Mutation_p.P312L	p.P312L	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN			8	1199	-	Melanoma(164;0.059)		312			Cytoplasmic (Potential).		A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	c.935C>T	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.033805	0.93575	.	.	ENSG00000127412	ENST00000265310;ENST00000439304;ENST00000442623	D;D;D	0.86164	-2.08;-2.08;-2.08	5.07	5.07	0.68467	.	0.105122	0.64402	D	0.000003	D	0.92603	0.7650	M	0.83312	2.635	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.99	D	0.89864	0.4018	10	0.05721	T	0.95	-16.4308	17.8039	0.88596	0.0:0.0:1.0:0.0	.	312;312	E9PBZ6;Q9NQA5	.;TRPV5_HUMAN	L	312;257;312	ENSP00000265310:P312L;ENSP00000406361:P257L;ENSP00000406572:P312L	ENSP00000265310:P312L	P	-	2	0	TRPV5	142332933	1.000000	0.71417	0.994000	0.49952	0.980000	0.70556	9.238000	0.95380	2.516000	0.84829	0.655000	0.94253	CCA		0.527	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1		NM_019841		6	36	0	0	0	0.021553	0	6	36		
DOCK5	80005	broad.mit.edu	37	8	25234819	25234819	+	Splice_Site	SNP	A	A	G			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr8:25234819A>G	ENST00000276440.7	+	38	3860		c.e38-1			NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5						positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.?(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CTTCCTTTTCAGTGGTCTGAC	0.363																																					Pancreas(145;34 1887 3271 10937 30165)	uc003xeg.2		NaN																	1	Unknown(1)		urinary_tract(1)	ovary(3)	3						c.e38-2		dedicator of cytokinesis 5							96.0	84.0	88.0					8																	25234819		2203	4300	6503	SO:0001630	splice_region_variant	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25234819A>G		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.3817-1A>G	8.37:g.25234819A>G						PPP2R2A_uc003xek.2_Splice_Site_p.W62_splice|DOCK5_uc003xei.2_Splice_Site_p.W843_splice|DOCK5_uc003xej.2_Splice_Site	p.W1273_splice	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	38	3954	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)						B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Splice_Site	SNP	ENST00000276440.7	37	c.3817_splice	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	A	19.95	3.922339	0.73213	.	.	ENSG00000147459	ENST00000276440	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5564	0.76196	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DOCK5	25290736	1.000000	0.71417	0.971000	0.41717	0.768000	0.43524	9.310000	0.96267	2.084000	0.62774	0.533000	0.62120	.		0.363	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2		NM_024940	Intron	22	24	0	0	0	0.062417	0	22	24		
SCARA3	51435	broad.mit.edu	37	8	27516466	27516466	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr8:27516466G>A	ENST00000301904.3	+	5	799	c.779G>A	c.(778-780)cGg>cAg	p.R260Q	SCARA3_ENST00000337221.4_Missense_Mutation_p.R260Q	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	260					receptor-mediated endocytosis (GO:0006898)|response to oxidative stress (GO:0006979)|UV protection (GO:0009650)	collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)	p.R260Q(1)		breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		AACTACACACGGCTCTTCAGC	0.622																																						uc003xga.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)|ovary(1)|breast(1)	4						c.(778-780)CGG>CAG		scavenger receptor class A, member 3 isoform 1							56.0	61.0	59.0					8																	27516466		2203	4300	6503	SO:0001583	missense	51435				response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity	g.chr8:27516466G>A	AB007829	CCDS34870.1, CCDS34871.1	8p21	2010-03-24			ENSG00000168077	ENSG00000168077			19000	protein-coding gene	gene with protein product	"""macrophage scavenger receptor-like 1"""	602728				9747040, 9580669	Standard	NM_182826		Approved	CSR1, CSR, MSLR1, APC7, MSRL1	uc003xga.1	Q6AZY7	OTTHUMG00000163898	ENST00000301904.3:c.779G>A	8.37:g.27516466G>A	ENSP00000301904:p.Arg260Gln					SCARA3_uc003xgb.1_Missense_Mutation_p.R260Q	p.R260Q	NM_016240	NP_057324	Q6AZY7	SCAR3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)	5	920	+		Ovarian(32;2.61e-05)	260			Extracellular (Potential).		Q9UM15|Q9UM16	Missense_Mutation	SNP	ENST00000301904.3	37	c.779G>A	CCDS34871.1	.	.	.	.	.	.	.	.	.	.	G	9.324	1.058913	0.19987	.	.	ENSG00000168077	ENST00000337221;ENST00000301904	D;D	0.93547	-3.24;-3.24	6.03	5.15	0.70609	.	0.247205	0.40469	N	0.001084	T	0.81278	0.4789	N	0.17082	0.46	0.37165	D	0.902799	P;B	0.37500	0.597;0.231	B;B	0.26693	0.072;0.01	T	0.81745	-0.0792	10	0.05351	T	0.99	-34.2802	9.0499	0.36369	0.1631:0.0:0.8368:0.0	.	260;260	Q6AZY7-2;Q6AZY7	.;SCAR3_HUMAN	Q	260	ENSP00000337985:R260Q;ENSP00000301904:R260Q	ENSP00000301904:R260Q	R	+	2	0	SCARA3	27572385	1.000000	0.71417	0.985000	0.45067	0.984000	0.73092	3.295000	0.51794	1.562000	0.49601	0.655000	0.94253	CGG		0.622	SCARA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376258.2		NM_016240		15	25	0	0	0	0.028581	0	15	25		
ADHFE1	137872	broad.mit.edu	37	8	67357551	67357551	+	Missense_Mutation	SNP	T	T	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr8:67357551T>A	ENST00000396623.3	+	6	483	c.452T>A	c.(451-453)cTg>cAg	p.L151Q	ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000415254.1_Missense_Mutation_p.L103Q|ADHFE1_ENST00000379385.4_Missense_Mutation_p.L151Q	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	151					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|molecular hydrogen transport (GO:0015993)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacid-oxoacid transhydrogenase activity (GO:0047988)|metal ion binding (GO:0046872)	p.L151Q(1)|p.L103Q(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GCTGCTAATCTGTATGCATCC	0.493																																						uc003xwb.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)|lung(1)|breast(1)|skin(1)	4						c.(451-453)CTG>CAG		alcohol dehydrogenase, iron containing, 1							247.0	211.0	223.0					8																	67357551		2203	4300	6503	SO:0001583	missense	137872				2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding	g.chr8:67357551T>A	AK056992	CCDS6190.2	8q12.3	2013-05-21			ENSG00000147576	ENSG00000147576	1.1.99.24	"""Alcohol dehydrogenases"""	16354	protein-coding gene	gene with protein product	"""hydroxyacid-oxoacid transhydrogenase"""	611083				12592711	Standard	NM_144650		Approved	ADHFe1, FLJ32430	uc003xwb.4	Q8IWW8	OTTHUMG00000150215	ENST00000396623.3:c.452T>A	8.37:g.67357551T>A	ENSP00000379865:p.Leu151Gln					ADHFE1_uc003xwd.3_RNA|ADHFE1_uc003xwc.3_Missense_Mutation_p.L103Q|ADHFE1_uc003xwe.3_RNA|ADHFE1_uc003xwf.3_Intron|ADHFE1_uc011les.1_Missense_Mutation_p.L81Q|ADHFE1_uc011leq.1_Intron|ADHFE1_uc011ler.1_Intron	p.L151Q	NM_144650	NP_653251	Q8IWW8	HOT_HUMAN	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)		6	486	+		Lung NSC(129;0.197)	151					B4DTJ8|Q49A19|Q68CI7|Q6P2B6|Q96MF9	Missense_Mutation	SNP	ENST00000396623.3	37	c.452T>A	CCDS6190.2	.	.	.	.	.	.	.	.	.	.	T	28.9	4.962012	0.92791	.	.	ENSG00000147576	ENST00000523113;ENST00000379385;ENST00000396623;ENST00000415254	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	5.85	5.85	0.93711	Alcohol dehydrogenase, iron-type (1);	0.000000	0.85682	D	0.000000	T	0.78566	0.4303	H	0.95043	3.615	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85355	0.1104	10	0.87932	D	0	-0.2281	16.2421	0.82418	0.0:0.0:0.0:1.0	.	151	Q8IWW8	HOT_HUMAN	Q	86;151;151;103	ENSP00000428055:L86Q;ENSP00000368695:L151Q;ENSP00000379865:L151Q;ENSP00000407115:L103Q	ENSP00000368695:L151Q	L	+	2	0	ADHFE1	67520105	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.707000	0.84623	2.234000	0.73211	0.533000	0.62120	CTG		0.493	ADHFE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316867.3		NM_144650		10	247	0	0	0	0.058154	0	10	247		
PRDM14	63978	broad.mit.edu	37	8	70981498	70981498	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr8:70981498C>G	ENST00000276594.2	-	2	799	c.598G>C	c.(598-600)Gag>Cag	p.E200Q		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	200					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.E200Q(1)		NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			TGCAGGTCCTCCTCCGTGAAC	0.602																																					NSCLC(129;99 1813 5906 40656 46114)	uc003xym.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)	3						c.(598-600)GAG>CAG		PR domain containing 14							84.0	86.0	85.0					8																	70981498		2203	4300	6503	SO:0001583	missense	63978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:70981498C>G	AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"""Zinc fingers, C2H2-type"""	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.598G>C	8.37:g.70981498C>G	ENSP00000276594:p.Glu200Gln						p.E200Q	NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)		2	800	-	Breast(64;0.193)		200					Q86UX9	Missense_Mutation	SNP	ENST00000276594.2	37	c.598G>C	CCDS6206.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.288806	0.40494	.	.	ENSG00000147596	ENST00000276594	T	0.17854	2.25	5.5	3.72	0.42706	.	0.306880	0.33591	N	0.004752	T	0.28200	0.0696	M	0.74881	2.28	0.38771	D	0.954558	D	0.59767	0.986	P	0.48304	0.573	T	0.13072	-1.0523	10	0.59425	D	0.04	-19.7014	13.0323	0.58848	0.0:0.8129:0.118:0.0691	.	200	Q9GZV8	PRD14_HUMAN	Q	200	ENSP00000276594:E200Q	ENSP00000276594:E200Q	E	-	1	0	PRDM14	71144052	1.000000	0.71417	0.553000	0.28255	0.001000	0.01503	3.418000	0.52721	0.298000	0.22638	-2.057000	0.00402	GAG		0.602	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1				42	85	0	0	0	0.092188	0	42	85		
DCAF4L2	138009	broad.mit.edu	37	8	88885212	88885212	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr8:88885212C>A	ENST00000319675.3	-	1	1084	c.988G>T	c.(988-990)Gcg>Tcg	p.A330S		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	330								p.A330S(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CCCACGGCCGCCACGACTCCT	0.567																																						uc003ydz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(988-990)GCG>TCG		WD repeat domain 21C							77.0	81.0	79.0					8																	88885212		2203	4300	6503	SO:0001583	missense	138009							g.chr8:88885212C>A	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.988G>T	8.37:g.88885212C>A	ENSP00000316496:p.Ala330Ser						p.A330S	NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN			1	1085	-			330			WD 2.			Missense_Mutation	SNP	ENST00000319675.3	37	c.988G>T	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	C	11.56	1.676320	0.29783	.	.	ENSG00000176566	ENST00000319675	T	0.74632	-0.86	1.39	0.426	0.16479	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.507103	0.21410	N	0.074998	T	0.54351	0.1853	L	0.32530	0.975	0.19575	N	0.999969	B	0.09022	0.002	B	0.04013	0.001	T	0.25710	-1.0124	10	0.27082	T	0.32	.	3.1823	0.06588	0.0:0.6935:0.0:0.3065	.	330	Q8NA75	DC4L2_HUMAN	S	330	ENSP00000316496:A330S	ENSP00000316496:A330S	A	-	1	0	DCAF4L2	88954328	1.000000	0.71417	0.097000	0.21041	0.259000	0.26198	0.837000	0.27558	0.750000	0.32877	0.467000	0.42956	GCG		0.567	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1		NM_152418		32	56	1	0	1.21669e-08	0.059317	1.27633e-08	32	56		
TRHR	7201	broad.mit.edu	37	8	110100523	110100523	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr8:110100523G>A	ENST00000518632.1	+	2	1133	c.782G>A	c.(781-783)aGg>aAg	p.R261K	TRHR_ENST00000311762.2_Missense_Mutation_p.R261K			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	261					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thyrotropin-releasing hormone receptor activity (GO:0004997)	p.R261K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			GTATCTTCAAGGAAGCAGGTA	0.383																																						uc003ymz.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)|lung(1)	3						c.(781-783)AGG>AAG		thyrotropin-releasing hormone receptor																																				SO:0001583	missense	7201					integral to plasma membrane	thyrotropin-releasing hormone receptor activity	g.chr8:110100523G>A		CCDS6311.1	8q23.1	2013-09-20			ENSG00000174417	ENSG00000174417			12299	protein-coding gene	gene with protein product		188545				8128317	Standard	NM_003301		Approved		uc003ymz.4	P34981	OTTHUMG00000164910	ENST00000518632.1:c.782G>A	8.37:g.110100523G>A	ENSP00000430711:p.Arg261Lys						p.R261K	NM_003301	NP_003292	P34981	TRFR_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)		1	798	+			261			Cytoplasmic (Potential).		Q2M339	Missense_Mutation	SNP	ENST00000518632.1	37	c.782G>A	CCDS6311.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.603591	0.87157	.	.	ENSG00000174417	ENST00000518632;ENST00000311762	T;T	0.70749	-0.51;-0.51	5.88	5.88	0.94601	GPCR, rhodopsin-like superfamily (1);	0.083484	0.85682	D	0.000000	T	0.78616	0.4311	L	0.49778	1.585	0.58432	D	0.999996	P	0.51240	0.943	P	0.59221	0.854	T	0.72868	-0.4162	10	0.25751	T	0.34	-11.2498	19.2068	0.93734	0.0:0.0:1.0:0.0	.	261	P34981	TRFR_HUMAN	K	261	ENSP00000430711:R261K;ENSP00000309818:R261K	ENSP00000309818:R261K	R	+	2	0	TRHR	110169699	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.628000	0.83189	2.780000	0.95670	0.655000	0.94253	AGG		0.383	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380892.1				16	46	0	0	0	0.028581	0	16	46		
CSMD3	114788	broad.mit.edu	37	8	113657416	113657416	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr8:113657416T>C	ENST00000297405.5	-	20	3476	c.3232A>G	c.(3232-3234)Atc>Gtc	p.I1078V	CSMD3_ENST00000343508.3_Missense_Mutation_p.I1038V|CSMD3_ENST00000352409.3_Missense_Mutation_p.I1078V|CSMD3_ENST00000455883.2_Missense_Mutation_p.I974V|MIR2053_ENST00000459295.1_RNA	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1078	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.I1078V(1)|p.I1038V(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGTGATAAGATTGTTCCACTA	0.398										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(3232-3234)ATC>GTC		CUB and Sushi multiple domains 3 isoform 1							93.0	91.0	92.0					8																	113657416		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113657416T>C	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3232A>G	8.37:g.113657416T>C	ENSP00000297405:p.Ile1078Val	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.I350V|CSMD3_uc003ynt.2_Missense_Mutation_p.I1038V|CSMD3_uc011lhx.1_Missense_Mutation_p.I974V	p.I1078V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			20	3391	-			1078			Extracellular (Potential).|CUB 6.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.3232A>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.082628	0.76528	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15	5.68	5.68	0.88126	CUB (5);	0.070914	0.53938	D	0.000052	T	0.39253	0.1071	L	0.42487	1.325	0.38663	D	0.952131	B;B;B	0.32382	0.317;0.368;0.076	B;B;B	0.42386	0.267;0.386;0.079	T	0.23440	-1.0188	10	0.15066	T	0.55	.	16.2237	0.82280	0.0:0.0:0.0:1.0	.	974;1078;1038	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	1038;1078;418;974;1078	ENSP00000345799:I1038V;ENSP00000297405:I1078V;ENSP00000341558:I418V;ENSP00000412263:I974V;ENSP00000343124:I1078V	ENSP00000297405:I1078V	I	-	1	0	CSMD3	113726592	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.231000	0.72307	2.289000	0.77006	0.482000	0.46254	ATC		0.398	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1		NM_052900		26	48	0	0	0	0.099896	0	26	48		
KIAA2026	158358	broad.mit.edu	37	9	6007430	6007430	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr9:6007430G>A	ENST00000399933.3	-	1	357	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C	MIR4665_ENST00000581132.1_RNA|KIAA2026_ENST00000381461.2_Missense_Mutation_p.R120C	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	120								p.R120C(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CCCCCGCTGCGCGGCCCTTCC	0.726																																						uc003zjq.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)	3						c.(358-360)CGC>TGC		hypothetical protein LOC158358							11.0	13.0	12.0					9																	6007430		1830	4057	5887	SO:0001583	missense	158358							g.chr9:6007430G>A	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.358C>T	9.37:g.6007430G>A	ENSP00000382815:p.Arg120Cys						p.R120C	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	1	574	-		Acute lymphoblastic leukemia(23;0.158)	120					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	ENST00000399933.3	37	c.358C>T		.	.	.	.	.	.	.	.	.	.	G	12.89	2.074329	0.36566	.	.	ENSG00000183354	ENST00000399933;ENST00000381461;ENST00000513355	.	.	.	4.34	4.34	0.51931	Bromodomain (1);	.	.	.	.	T	0.33585	0.0868	N	0.08118	0	0.23704	N	0.997065	D	0.71674	0.998	P	0.53861	0.736	T	0.34800	-0.9814	8	0.87932	D	0	.	15.3907	0.74741	0.0:0.0:1.0:0.0	.	120	Q5HYC2	K2026_HUMAN	C	120	.	ENSP00000370870:R120C	R	-	1	0	KIAA2026	5997430	0.924000	0.31332	0.999000	0.59377	0.143000	0.21401	1.737000	0.38197	2.139000	0.66308	0.491000	0.48974	CGC		0.726	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2		NM_001017969		3	23	0	0	0	0.004672	0	3	23		
ZCCHC6	79670	broad.mit.edu	37	9	88953842	88953842	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr9:88953842C>T	ENST00000375963.3	-	9	1403	c.1231G>A	c.(1231-1233)Gca>Aca	p.A411T	ZCCHC6_ENST00000375948.1_Missense_Mutation_p.A49T|ZCCHC6_ENST00000375960.2_Intron|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.A411T|ZCCHC6_ENST00000277141.6_5'UTR	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	411					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)	p.A411T(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TCATTTCCTGCGCTCACTTTA	0.433																																						uc004aoq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(1231-1233)GCA>ACA		zinc finger, CCHC domain containing 6							76.0	69.0	71.0					9																	88953842		2203	4300	6503	SO:0001583	missense	79670				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding	g.chr9:88953842C>T	AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.1231G>A	9.37:g.88953842C>T	ENSP00000365130:p.Ala411Thr					ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Intron|ZCCHC6_uc004aou.2_Missense_Mutation_p.A411T|ZCCHC6_uc004aov.2_Missense_Mutation_p.A411T	p.A411T	NM_024617	NP_078893	Q5VYS8	TUT7_HUMAN			9	1446	-			411					Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	37	c.1231G>A	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	C	31	5.093185	0.94149	.	.	ENSG00000083223	ENST00000375961;ENST00000375963;ENST00000375948	T;T;T	0.38722	1.12;1.12;1.12	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.59004	0.2162	L	0.51853	1.615	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.53394	-0.8445	10	0.30854	T	0.27	-4.4015	18.1961	0.89822	0.0:1.0:0.0:0.0	.	411;411	Q5VYS8-2;Q5VYS8	.;TUT7_HUMAN	T	411;411;49	ENSP00000365128:A411T;ENSP00000365130:A411T;ENSP00000365115:A49T	ENSP00000365115:A49T	A	-	1	0	ZCCHC6	88143662	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.001000	0.76297	2.590000	0.87494	0.655000	0.94253	GCA		0.433	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1		NM_024617		15	60	0	0	0	0.028581	0	15	60		
RABEPK	10244	broad.mit.edu	37	9	127996239	127996239	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr9:127996239A>G	ENST00000373538.3	+	8	1409	c.1099A>G	c.(1099-1101)Att>Gtt	p.I367V	RABEPK_ENST00000259460.8_Missense_Mutation_p.I316V|RABEPK_ENST00000394125.4_Missense_Mutation_p.I367V|RABEPK_ENST00000394124.4_3'UTR	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	367					receptor-mediated endocytosis (GO:0006898)|vesicle docking involved in exocytosis (GO:0006904)	endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)		p.I367V(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						TGACGATTGTATTGTGACTGT	0.388																																						uc004bpi.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1099-1101)ATT>GTT		Rab9 effector protein with kelch motifs							193.0	190.0	191.0					9																	127996239		2203	4300	6503	SO:0001583	missense	10244				receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane		g.chr9:127996239A>G	BC000503	CCDS6862.1, CCDS55341.1	9q33.1-q33.3	2010-04-19			ENSG00000136933	ENSG00000136933			16896	protein-coding gene	gene with protein product		605962				9230071	Standard	NM_005833		Approved	RAB9P40, bA65N13.1	uc004bpi.3	Q7Z6M1	OTTHUMG00000020674	ENST00000373538.3:c.1099A>G	9.37:g.127996239A>G	ENSP00000362639:p.Ile367Val					RABEPK_uc004bpj.2_Missense_Mutation_p.I316V|RABEPK_uc004bpk.2_Missense_Mutation_p.I367V|RABEPK_uc004bpl.1_3'UTR|RABEPK_uc004bpm.2_Missense_Mutation_p.I367V	p.I367V	NM_005833	NP_005824	Q7Z6M1	RABEK_HUMAN			9	1272	+			367					A8K403|O00568|Q69YR2|Q6FHA4|Q6IBG7|Q6P092|Q86Y76|Q9BWB1	Missense_Mutation	SNP	ENST00000373538.3	37	c.1099A>G	CCDS6862.1	.	.	.	.	.	.	.	.	.	.	A	7.514	0.655359	0.14580	.	.	ENSG00000136933	ENST00000394125;ENST00000259460;ENST00000373538	T;T;T	0.38887	1.86;1.11;1.86	5.54	2.7	0.31948	.	0.389791	0.28504	N	0.015111	T	0.24314	0.0589	L	0.32530	0.975	0.80722	D	1	B;B	0.12630	0.006;0.003	B;B	0.16289	0.015;0.007	T	0.05649	-1.0872	10	0.15066	T	0.55	-9.8596	3.574	0.07927	0.5071:0.2999:0.0807:0.1122	.	316;367	Q7Z6M1-2;Q7Z6M1	.;RABEK_HUMAN	V	367;316;367	ENSP00000377683:I367V;ENSP00000259460:I316V;ENSP00000362639:I367V	ENSP00000259460:I316V	I	+	1	0	RABEPK	127036060	0.004000	0.15560	1.000000	0.80357	0.785000	0.44390	-0.751000	0.04803	0.833000	0.34828	0.528000	0.53228	ATT		0.388	RABEPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054064.1		NM_005833		96	206	0	0	0	0.048971	0	96	206		
C9orf50	375759	broad.mit.edu	37	9	132375441	132375441	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr9:132375441T>C	ENST00000372478.4	-	6	1334	c.1133A>G	c.(1132-1134)cAg>cGg	p.Q378R	NTMT1_ENST00000372486.1_Intron	NM_199350.3	NP_955382.3	Q5SZB4	CI050_HUMAN	chromosome 9 open reading frame 50	378								p.Q378R(1)		central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10		Ovarian(14;0.00556)				TCGCGGCCTCTGAGCAGCGGC	0.607																																						uc004byc.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(1132-1134)CAG>CGG		hypothetical protein LOC375759							37.0	37.0	37.0					9																	132375441		2203	4300	6503	SO:0001583	missense	375759							g.chr9:132375441T>C	AK093122	CCDS35159.1	9q34.2	2012-03-15			ENSG00000179058	ENSG00000179058			23677	protein-coding gene	gene with protein product							Standard	NM_199350		Approved	FLJ35803	uc004byc.4	Q5SZB4	OTTHUMG00000020786	ENST00000372478.4:c.1133A>G	9.37:g.132375441T>C	ENSP00000361556:p.Gln378Arg					C9orf50_uc004byb.3_RNA	p.Q378R	NM_199350	NP_955382	Q5SZB4	CI050_HUMAN			6	1335	-		Ovarian(14;0.00556)	378					Q2M1I2|Q8NA65	Missense_Mutation	SNP	ENST00000372478.4	37	c.1133A>G	CCDS35159.1	.	.	.	.	.	.	.	.	.	.	T	6.833	0.522889	0.13066	.	.	ENSG00000179058	ENST00000372478	T	0.18016	2.24	3.59	-0.48	0.12085	.	0.467423	0.16002	N	0.234248	T	0.12390	0.0301	N	0.24115	0.695	0.09310	N	1	P	0.50528	0.936	P	0.47864	0.559	T	0.29518	-1.0009	10	0.12766	T	0.61	0.0068	10.7647	0.46286	0.0:0.0:0.6911:0.3089	.	378	Q5SZB4	CI050_HUMAN	R	378	ENSP00000361556:Q378R	ENSP00000361556:Q378R	Q	-	2	0	C9orf50	131415262	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-3.143000	0.00585	-0.076000	0.12775	0.358000	0.22013	CAG		0.607	C9orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054593.1		NM_199350		38	101	0	0	0	0.104719	0	38	101		
LAMC3	10319	broad.mit.edu	37	9	133911631	133911631	+	Silent	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr9:133911631C>T	ENST00000361069.4	+	4	1021	c.888C>T	c.(886-888)acC>acT	p.T296T	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	296	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)	p.T296T(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		AGCACAACACCACCGGCACAG	0.682																																						uc004caa.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|pancreas(1)	3						c.(886-888)ACC>ACT		laminin, gamma 3 precursor							34.0	38.0	36.0					9																	133911631		2198	4296	6494	SO:0001819	synonymous_variant	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133911631C>T	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.888C>T	9.37:g.133911631C>T							p.T296T	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	4	986	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	296			Laminin EGF-like 1.		B1APX9|B1APY0|Q59H72	Silent	SNP	ENST00000361069.4	37	c.888C>T	CCDS6938.1																																																																																				0.682	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3		NM_006059		17	56	0	0	0	0.069456	0	17	56		
FCN2	2220	broad.mit.edu	37	9	137777143	137777143	+	Silent	SNP	C	C	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr9:137777143C>A	ENST00000291744.6	+	5	370	c.360C>A	c.(358-360)acC>acA	p.T120T	FCN2_ENST00000350339.2_Silent_p.T82T	NM_004108.2	NP_004099.2	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	120	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|opsonization (GO:0008228)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|carbohydrate binding (GO:0030246)	p.T120T(1)		breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		GCTGGCACACCATCTACCTGC	0.677																																						uc004cfg.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	large_intestine(1)	1						c.(358-360)ACC>ACA		ficolin 2 isoform a precursor							56.0	55.0	55.0					9																	137777143		2203	4300	6503	SO:0001819	synonymous_variant	2220				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding	g.chr9:137777143C>A	D49353	CCDS6983.1	9q34	2013-09-12	2013-09-12		ENSG00000160339	ENSG00000160339		"""Fibrinogen C domain containing"""	3624	protein-coding gene	gene with protein product	"""hucolin"", ""collagen/fibrinogen domain-containing protein 2"", ""ficolin B"", ""serum lectin p35"", ""L-ficolin"""	601624	"""ficolin (collagen/fibrinogen domain-containing lectin) 2 (hucolin)"""			8884275	Standard	XM_006717015		Approved	P35, FCNL, EBP-37, ficolin-2	uc004cfg.1	Q15485	OTTHUMG00000020892	ENST00000291744.6:c.360C>A	9.37:g.137777143C>A						FCN2_uc004cfh.1_Silent_p.T82T	p.T120T	NM_004108	NP_004099	Q15485	FCN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)	5	370	+		Myeloproliferative disorder(178;0.0333)	120			Fibrinogen C-terminal.		A6NFG7|A8K478|Q6IS69|Q7M4P4|Q9UC57	Silent	SNP	ENST00000291744.6	37	c.360C>A	CCDS6983.1																																																																																				0.677	FCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054960.1		NM_004108		14	46	1	0	1.05317e-09	0.020292	1.12689e-09	14	46		
FUNDC1	139341	broad.mit.edu	37	X	44401284	44401284	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chrX:44401284T>C	ENST00000378045.4	-	2	260	c.92A>G	c.(91-93)cAg>cGg	p.Q31R	FUNDC1_ENST00000483115.1_5'UTR	NM_173794.3	NP_776155.1	Q8IVP5	FUND1_HUMAN	FUN14 domain containing 1	31					mitochondrion degradation (GO:0000422)|response to hypoxia (GO:0001666)	integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial outer membrane (GO:0005741)		p.Q31R(1)		breast(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						ATTCCACCACTGGTGTCTTCT	0.408																																						uc004dgc.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(91-93)CAG>CGG		FUN14 domain containing 1							76.0	60.0	65.0					X																	44401284		2203	4300	6503	SO:0001583	missense	139341							g.chrX:44401284T>C	BC042813	CCDS14263.1	Xp11.4	2005-09-22			ENSG00000069509	ENSG00000069509			28746	protein-coding gene	gene with protein product		300871				12477932	Standard	NM_173794		Approved	MGC51029	uc004dgc.3	Q8IVP5	OTTHUMG00000021399	ENST00000378045.4:c.92A>G	X.37:g.44401284T>C	ENSP00000367284:p.Gln31Arg						p.Q31R	NM_173794	NP_776155	Q8IVP5	FUND1_HUMAN			2	235	-			31						Missense_Mutation	SNP	ENST00000378045.4	37	c.92A>G	CCDS14263.1	.	.	.	.	.	.	.	.	.	.	T	12.06	1.825703	0.32237	.	.	ENSG00000069509	ENST00000378045	.	.	.	5.92	4.77	0.60923	.	0.142736	0.64402	D	0.000004	T	0.29223	0.0727	N	0.08118	0	0.34921	D	0.748461	B	0.02656	0.0	B	0.04013	0.001	T	0.33548	-0.9864	9	0.16896	T	0.51	-6.7539	10.5001	0.44800	0.0:0.0759:0.0:0.9241	.	31	Q8IVP5	FUND1_HUMAN	R	31	.	ENSP00000367284:Q31R	Q	-	2	0	FUNDC1	44286228	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.710000	0.54860	1.990000	0.58119	0.486000	0.48141	CAG		0.408	FUNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056320.1		NM_173794		7	8	0	0	0	0.038147	0	7	8		
PCDH11X	27328	broad.mit.edu	37	X	91132785	91132785	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chrX:91132785G>C	ENST00000373094.1	+	2	2391	c.1546G>C	c.(1546-1548)Gat>Cat	p.D516H	PCDH11X_ENST00000395337.2_Missense_Mutation_p.D516H|PCDH11X_ENST00000373097.1_Missense_Mutation_p.D516H|PCDH11X_ENST00000298274.8_Missense_Mutation_p.D516H|PCDH11X_ENST00000504220.2_Missense_Mutation_p.D516H|PCDH11X_ENST00000361724.1_Missense_Mutation_p.D516H|PCDH11X_ENST00000373088.1_Missense_Mutation_p.D516H|PCDH11X_ENST00000361655.2_Missense_Mutation_p.D516H|PCDH11X_ENST00000406881.1_Missense_Mutation_p.D516H	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	516	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D516H(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ATTCAGCCTGGATTGTCGTAC	0.438																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	large_intestine(2)	2						c.(1546-1548)GAT>CAT		protocadherin 11 X-linked isoform c							75.0	64.0	68.0					X																	91132785		2202	4300	6502	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91132785G>C	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.1546G>C	X.37:g.91132785G>C	ENSP00000362186:p.Asp516His					PCDH11X_uc004efl.1_Missense_Mutation_p.D516H|PCDH11X_uc004efo.1_Missense_Mutation_p.D516H|PCDH11X_uc010nmv.1_Missense_Mutation_p.D516H|PCDH11X_uc004efm.1_Missense_Mutation_p.D516H|PCDH11X_uc004efn.1_Missense_Mutation_p.D516H|PCDH11X_uc004efh.1_Missense_Mutation_p.D516H|PCDH11X_uc004efj.1_Missense_Mutation_p.D516H	p.D516H	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			2	2391	+			516			Cadherin 5.|Extracellular (Potential).		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.1546G>C	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	9.279	1.047576	0.19827	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.65732	0.48;-0.17;-0.17;0.48;-0.17;0.48;-0.17;-0.17;-0.17	5.38	4.52	0.55395	Cadherin (4);Cadherin-like (1);	0.048832	0.85682	D	0.000000	T	0.75184	0.3815	M	0.64080	1.96	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;0.987;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;0.962;1.0;1.0;1.0;1.0;1.0;1.0	T	0.76523	-0.2928	10	0.66056	D	0.02	.	12.2066	0.54355	0.0843:0.0:0.9157:0.0	.	516;516;516;516;516;516;516;516	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	H	516	ENSP00000378746:D516H;ENSP00000362186:D516H;ENSP00000362189:D516H;ENSP00000355040:D516H;ENSP00000362180:D516H;ENSP00000423762:D516H;ENSP00000355105:D516H;ENSP00000384758:D516H;ENSP00000298274:D516H	ENSP00000298274:D516H	D	+	1	0	PCDH11X	91019441	1.000000	0.71417	0.747000	0.31113	0.030000	0.12068	7.681000	0.84073	1.037000	0.40024	-0.268000	0.10319	GAT		0.438	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1		NM_032969		36	27	0	0	0	0.054565	0	36	27		
ZMAT1	84460	broad.mit.edu	37	X	101138751	101138751	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chrX:101138751C>T	ENST00000372782.3	-	7	1695	c.1648G>A	c.(1648-1650)Gaa>Aaa	p.E550K	ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000458570.1_Missense_Mutation_p.E379K|ZMAT1_ENST00000540921.1_Missense_Mutation_p.E550K	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	550						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.E550K(1)|p.E379K(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TCTGGCCTTTCTTTGCCTTCT	0.393																																						uc004eim.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(1135-1137)GAA>AAA		zinc finger, matrin type 1 isoform 3							221.0	179.0	193.0					X																	101138751		2203	4300	6503	SO:0001583	missense	84460					nucleus	zinc ion binding	g.chrX:101138751C>T	Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"""Zinc fingers, matrin-type"""	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.1648G>A	X.37:g.101138751C>T	ENSP00000361868:p.Glu550Lys					ZMAT1_uc011mrl.1_Missense_Mutation_p.E550K|ZMAT1_uc004ein.2_Missense_Mutation_p.E379K|ZMAT1_uc011mrm.1_Missense_Mutation_p.E379K	p.E379K	NM_032441	NP_115817	Q5H9K5	ZMAT1_HUMAN			2	4633	-			379					Q8NDS3|Q96JN6	Missense_Mutation	SNP	ENST00000372782.3	37	c.1135G>A	CCDS35348.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.397073	0.62177	.	.	ENSG00000166432	ENST00000372782;ENST00000540921;ENST00000458570	T;T;T	0.25579	2.37;2.37;1.79	4.37	4.37	0.52481	.	0.218462	0.39083	N	0.001478	T	0.37517	0.1006	L	0.52759	1.655	0.31831	N	0.624781	D	0.76494	0.999	D	0.68039	0.955	T	0.38845	-0.9642	10	0.39692	T	0.17	-13.3304	7.1638	0.25679	0.0:0.8812:0.0:0.1188	.	550	Q5H9K5	ZMAT1_HUMAN	K	550;550;379	ENSP00000361868:E550K;ENSP00000437529:E550K;ENSP00000413044:E379K	ENSP00000361868:E550K	E	-	1	0	ZMAT1	101025407	0.945000	0.32115	0.868000	0.34077	0.811000	0.45836	1.193000	0.32162	2.393000	0.81446	0.600000	0.82982	GAA		0.393	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1				68	59	0	0	0	0.048971	0	68	59		
ZMAT1	84460	broad.mit.edu	37	X	101141649	101141649	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chrX:101141649A>G	ENST00000372782.3	-	6	607	c.560T>C	c.(559-561)tTa>tCa	p.L187S	ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000458570.1_Missense_Mutation_p.L16S|ZMAT1_ENST00000540921.1_Missense_Mutation_p.L187S	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	187						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.L16S(1)|p.L187S(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						GAACATATCTAAAGATGTAAA	0.328																																						uc004eim.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(46-48)TTA>TCA		zinc finger, matrin type 1 isoform 3							132.0	111.0	118.0					X																	101141649		2202	4300	6502	SO:0001583	missense	84460					nucleus	zinc ion binding	g.chrX:101141649A>G	Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"""Zinc fingers, matrin-type"""	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.560T>C	X.37:g.101141649A>G	ENSP00000361868:p.Leu187Ser					ZMAT1_uc011mrl.1_Missense_Mutation_p.L187S|ZMAT1_uc004ein.2_Missense_Mutation_p.L16S|ZMAT1_uc011mrm.1_Missense_Mutation_p.L16S	p.L16S	NM_032441	NP_115817	Q5H9K5	ZMAT1_HUMAN			1	3545	-			16					Q8NDS3|Q96JN6	Missense_Mutation	SNP	ENST00000372782.3	37	c.47T>C	CCDS35348.1	.	.	.	.	.	.	.	.	.	.	A	13.92	2.381916	0.42207	.	.	ENSG00000166432	ENST00000372782;ENST00000540921;ENST00000458570	T;T;T	0.43688	2.04;2.04;0.94	4.94	1.0	0.19881	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.467922	0.16110	N	0.229141	T	0.30823	0.0777	L	0.47716	1.5	0.26314	N	0.977777	B	0.28419	0.211	B	0.32805	0.153	T	0.30446	-0.9978	10	0.09590	T	0.72	-0.7569	7.5086	0.27560	0.7282:0.0:0.2718:0.0	.	187	Q5H9K5	ZMAT1_HUMAN	S	187;187;16	ENSP00000361868:L187S;ENSP00000437529:L187S;ENSP00000413044:L16S	ENSP00000361868:L187S	L	-	2	0	ZMAT1	101028305	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	3.277000	0.51654	0.015000	0.14971	0.481000	0.45027	TTA		0.328	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1				20	17	0	0	0	0.062417	0	20	17		
CDHR5	53841	broad.mit.edu	37	11	618994	618994	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr11:618994delG	ENST00000358353.3	-	14	1887	c.1565delC	c.(1564-1566)ccgfs	p.P522fs	IRF7_ENST00000397570.1_5'Flank|CDHR5_ENST00000349570.7_Intron|IRF7_ENST00000397574.2_5'Flank|CDHR5_ENST00000397542.2_Frame_Shift_Del_p.P522fs			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	522					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						TTCTGCACCCGGGGGCCCCCC	0.677																																						uc001lqj.2		NaN																	0					0						c.(1564-1566)CCGfs		mucin and cadherin-like isoform 1							55.0	72.0	66.0					11																	618994		2203	4299	6502	SO:0001589	frameshift_variant	53841				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:618994delG	AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"""Cadherins / Cadherin-related"""	7521	protein-coding gene	gene with protein product		606839	"""mucin and cadherin-like"", ""mucin-like protocadherin"""	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.1565delC	11.37:g.618994delG	ENSP00000351118:p.Pro522fs					IRF7_uc001lqh.2_5'Flank|IRF7_uc001lqi.2_5'Flank|IRF7_uc010qwh.1_5'Flank|CDHR5_uc001lqk.2_Intron|CDHR5_uc009ycc.2_Frame_Shift_Del_p.P356fs|CDHR5_uc009ycd.2_Frame_Shift_Del_p.P516fs|CDHR5_uc001lql.2_Frame_Shift_Del_p.P522fs	p.P522fs	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN			13	1670	-			522			Extracellular (Potential).		C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Frame_Shift_Del	DEL	ENST00000358353.3	37	c.1565delC	CCDS7707.1																																																																																				0.677	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2		NM_021924		50	208	NaN	NaN	NaN	NaN	NaN	50	208	---	---
P2RX3	5024	broad.mit.edu	37	11	57137457	57137457	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr11:57137457delC	ENST00000263314.2	+	12	1215	c.1181delC	c.(1180-1182)tccfs	p.S394fs		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	394					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of synaptic plasticity (GO:0048167)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to cold (GO:0009409)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)|transport (GO:0006810)|urinary bladder smooth muscle contraction (GO:0014832)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						GGGGCCTTCTCCATAGGCCAC	0.612																																						uc001nju.2		NaN																	0					0						c.(1180-1182)TCCfs		purinergic receptor P2X3							66.0	58.0	61.0					11																	57137457		2201	4296	6497	SO:0001589	frameshift_variant	5024				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	g.chr11:57137457delC	Y07683	CCDS7953.1	11q12	2012-01-17			ENSG00000109991	ENSG00000109991		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8534	protein-coding gene	gene with protein product		600843				9221902	Standard	NM_002559		Approved	P2X3	uc001nju.3	P56373	OTTHUMG00000167025	ENST00000263314.2:c.1181delC	11.37:g.57137457delC	ENSP00000263314:p.Ser394fs						p.S394fs	NM_002559	NP_002550	P56373	P2RX3_HUMAN			12	1257	+			394			Cytoplasmic (Potential).		Q6DK37|Q9UQB6	Frame_Shift_Del	DEL	ENST00000263314.2	37	c.1181delC	CCDS7953.1																																																																																				0.612	P2RX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392465.1		NM_002559		14	63	NaN	NaN	NaN	NaN	NaN	14	63	---	---
OR11H12	440153	broad.mit.edu	37	14	19377902	19377903	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr14:19377902_19377903insA	ENST00000550708.1	+	1	381_382	c.309_310insA	c.(310-312)aaafs	p.K104fs		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCCTTTCAGAGAAAAAAAACAT	0.386																																						uc010tkp.1		NaN																	0				ovary(2)	2						c.(307-312)GAGAAAfs		olfactory receptor, family 11, subfamily H,																																				SO:0001589	frameshift_variant	440153				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:19377902_19377903insA		CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"""GPCR / Class A : Olfactory receptors"""	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.317dupA	14.37:g.19377910_19377910dupA	ENSP00000449002:p.Lys104fs						p.E103fs	NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	309_310	+	all_cancers(95;0.00108)		103_104			Extracellular (Potential).			Frame_Shift_Ins	INS	ENST00000550708.1	37	c.309_310insA	CCDS32017.1																																																																																				0.386	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1		NM_001013354		19	140	NaN	NaN	NaN	NaN	NaN	19	140	---	---
GOLGA6B	55889	broad.mit.edu	37	15	72958135	72958136	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr15:72958135_72958136delCC	ENST00000421285.3	+	16	1709_1710	c.1709_1710delCC	c.(1708-1710)accfs	p.T570fs	RN7SL853P_ENST00000477951.2_RNA	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	570						Golgi apparatus (GO:0005794)				NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						GAGTCCTTCACCGTATATGAAA	0.629																																						uc010uks.1		NaN																	0					0						c.(1708-1710)ACCfs		golgi autoantigen, golgin subfamily a, 6B																																				SO:0001589	frameshift_variant	55889							g.chr15:72958135_72958136delCC		CCDS10245.2	15q24.1	2011-10-25	2010-02-12		ENSG00000215186	ENSG00000215186			32205	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6B"""				Standard	XM_006720604		Approved		uc010uks.1	A6NDN3	OTTHUMG00000133511	ENST00000421285.3:c.1709_1710delCC	15.37:g.72958135_72958136delCC	ENSP00000408132:p.Thr570fs					uc002aux.1_5'Flank|uc002auy.1_5'Flank	p.T570fs	NM_018652	NP_061122	A6NDN3	GOG6B_HUMAN			16	1750_1751	+			570			Potential.		A8MYY7	Frame_Shift_Del	DEL	ENST00000421285.3	37	c.1709_1710delCC	CCDS10245.2																																																																																				0.629	GOLGA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257474.4		NM_018652		8	168	NaN	NaN	NaN	NaN	NaN	8	168	---	---
SCAP	22937	broad.mit.edu	37	3	47461048	47461048	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr3:47461048delG	ENST00000265565.5	-	13	2122	c.1710delC	c.(1708-1710)cccfs	p.P570fs	SCAP_ENST00000441517.2_Frame_Shift_Del_p.P315fs|SCAP_ENST00000545718.1_Frame_Shift_Del_p.P178fs|SCAP_ENST00000465628.1_5'Flank	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	570					aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CCGGGTGGCTGGGGGGCAGCA	0.657																																					Pancreas(149;978 1908 29304 37806 46700)	uc003crh.1		NaN																	0				ovary(1)	1						c.(1708-1710)CCCfs		SREBF chaperone protein							58.0	61.0	60.0					3																	47461048		2203	4300	6503	SO:0001589	frameshift_variant	22937				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	g.chr3:47461048delG	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.1710delC	3.37:g.47461048delG	ENSP00000265565:p.Pro570fs					SCAP_uc011baz.1_Frame_Shift_Del_p.P315fs|SCAP_uc003crg.2_Frame_Shift_Del_p.P178fs	p.P570fs	NM_012235	NP_036367	Q12770	SCAP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	13	1965	-			570			Lumenal (By similarity).		Q8N2E0|Q8WUA1	Frame_Shift_Del	DEL	ENST00000265565.5	37	c.1710delC	CCDS2755.2																																																																																				0.657	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2		NM_012235		11	92	NaN	NaN	NaN	NaN	NaN	11	92	---	---
FAT4	79633	broad.mit.edu	37	4	126412722	126412722	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr4:126412722delC	ENST00000394329.3	+	17	14758	c.14745delC	c.(14743-14745)aacfs	p.N4915fs	FAT4_ENST00000335110.5_Frame_Shift_Del_p.N3156fs	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4915					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTGCTGACAACACACTGCCCA	0.552																																						uc003ifj.3		NaN																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(14743-14745)AACfs		FAT tumor suppressor homolog 4 precursor							60.0	57.0	58.0					4																	126412722		2203	4300	6503	SO:0001589	frameshift_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126412722delC	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.14745delC	4.37:g.126412722delC	ENSP00000377862:p.Asn4915fs					FAT4_uc011cgp.1_Frame_Shift_Del_p.N3156fs|FAT4_uc003ifi.1_Frame_Shift_Del_p.N2392fs	p.N4915fs	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			17	14745	+			4915			Cytoplasmic (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Frame_Shift_Del	DEL	ENST00000394329.3	37	c.14745delC	CCDS3732.3																																																																																				0.552	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2		NM_024582		33	51	NaN	NaN	NaN	NaN	NaN	33	51	---	---
AMACR	23600	broad.mit.edu	37	5	34008088	34008089	+	Frame_Shift_Del	DEL	CG	CG	-	rs534080503		TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr5:34008088_34008089delCG	ENST00000335606.6	-	1	124_125	c.36_37delCG	c.(34-39)tccggcfs	p.G13fs	AMACR_ENST00000382072.2_Frame_Shift_Del_p.G13fs|RP11-1084J3.4_ENST00000382079.3_Intron|AMACR_ENST00000382068.3_Frame_Shift_Del_p.G13fs|AMACR_ENST00000426255.2_Frame_Shift_Del_p.G13fs|AMACR_ENST00000514195.1_5'UTR|AMACR_ENST00000382085.3_Frame_Shift_Del_p.G13fs|AMACR_ENST00000441713.2_Frame_Shift_Del_p.G13fs|AMACR_ENST00000512079.1_Frame_Shift_Del_p.G13fs|AMACR_ENST00000502637.1_Frame_Shift_Del_p.G13fs	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	13					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alpha-methylacyl-CoA racemase activity (GO:0008111)|receptor binding (GO:0005102)			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						GGGGCCAGGCCGGACAGCTCCA	0.688																																						uc003jig.2		NaN																	0					0						c.(34-39)TCCGGCfs		alpha-methylacyl-CoA racemase isoform 1																																				SO:0001589	frameshift_variant	23600				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity	g.chr5:34008088_34008089delCG	AF047020	CCDS3902.1, CCDS3903.1, CCDS54836.1	5p13.2	2012-05-16			ENSG00000242110	ENSG00000242110	5.1.99.4		451	protein-coding gene	gene with protein product		604489				9307041	Standard	NM_014324		Approved	RACE	uc003jij.3	Q9UHK6	OTTHUMG00000090734	ENST00000335606.6:c.36_37delCG	5.37:g.34008088_34008089delCG	ENSP00000334424:p.Gly13fs					AMACR_uc003jih.2_Frame_Shift_Del_p.S12fs|AMACR_uc003jii.2_Frame_Shift_Del_p.S12fs|AMACR_uc003jij.2_Frame_Shift_Del_p.S12fs|AMACR_uc003jil.1_Frame_Shift_Del_p.S12fs|AMACR_uc003jik.1_Frame_Shift_Del_p.S12fs	p.S12fs	NM_014324	NP_055139	Q9UHK6	AMACR_HUMAN			1	118_119	-			12_13					A5YM47|B8Y916|B8Y918|F8W9N1|O43673|Q3KT79|Q96GH1|Q9Y3Q1	Frame_Shift_Del	DEL	ENST00000335606.6	37	c.36_37delCG	CCDS3902.1																																																																																				0.688	AMACR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207467.1		NM_014324		15	71	NaN	NaN	NaN	NaN	NaN	15	71	---	---
LY6G6F	259215	broad.mit.edu	37	6	31675681	31675681	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr6:31675681delC	ENST00000375832.4	+	3	438	c.416delC	c.(415-417)tccfs	p.S139fs	MEGT1_ENST00000503322.1_Frame_Shift_Del_p.S139fs|LY6G6F_ENST00000556581.1_Frame_Shift_Del_p.S139fs|XXbac-BPG32J3.20_ENST00000461287.1_Intron	NM_001003693.1	NP_001003693.1	Q5SQ64	LY66F_HUMAN	lymphocyte antigen 6 complex, locus G6F	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	12						GCAGATGGATCCCCCTGCAAT	0.602																																						uc003nwa.1		NaN																	0				breast(1)|central_nervous_system(1)	2						c.(415-417)TCCfs		G6f protein precursor							75.0	70.0	72.0					6																	31675681		1511	2709	4220	SO:0001589	frameshift_variant	259215					integral to membrane|plasma membrane		g.chr6:31675681delC		CCDS34403.1	6p21	2013-01-11	2008-05-21	2008-05-21		ENSG00000204424		"""Immunoglobulin superfamily / V-set domain containing"""	13933	protein-coding gene	gene with protein product		611404	"""chromosome 6 open reading frame 21"""	LY6G6D, C6orf21		12852788	Standard	NM_001003693		Approved	G6f, NG32	uc003nwa.1	Q5SQ64	OTTHUMG00000031252	ENST00000375832.4:c.416delC	6.37:g.31675681delC	ENSP00000364992:p.Ser139fs					BAT5_uc011dnz.1_Intron|LY6G6F_uc003nwb.1_Frame_Shift_Del_p.S139fs	p.S139fs	NM_001003693	NP_001003693	Q5SQ64	LY66F_HUMAN			3	416	+			139			Extracellular (Potential).		B0UXB7|O95869|Q7Z5H2|Q96QC7|Q9NZJ1	Frame_Shift_Del	DEL	ENST00000375832.4	37	c.416delC	CCDS34403.1																																																																																				0.602	LY6G6F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076532.2		NM_001003693		38	121	NaN	NaN	NaN	NaN	NaN	38	121	---	---
