#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
TMEM61	199964	broad.mit.edu	37	1	55457654	55457654	+	Missense_Mutation	SNP	G	G	A	rs527691651		TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr1:55457654G>A	ENST00000371268.3	+	3	785	c.511G>A	c.(511-513)Gcc>Acc	p.A171T	RP11-12C17.2_ENST00000436960.1_RNA	NM_182532.1	NP_872338.1	Q8N0U2	TMM61_HUMAN	transmembrane protein 61	171						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						CACCCAGCCCGCCTGGCCTCC	0.642																																						uc001cyd.2																			0					0						c.(511-513)GCC>ACC		transmembrane protein 61							97.0	89.0	92.0					1																	55457654		2203	4300	6503	SO:0001583	missense	199964					integral to membrane		g.chr1:55457654G>A	BC029775	CCDS601.1	1p32.3	2008-02-05			ENSG00000143001	ENSG00000143001			27296	protein-coding gene	gene with protein product						12477932	Standard	NM_182532		Approved		uc001cyd.3	Q8N0U2	OTTHUMG00000009991	ENST00000371268.3:c.511G>A	1.37:g.55457654G>A	ENSP00000360315:p.Ala171Thr						p.A171T	NM_182532	NP_872338	Q8N0U2	TMM61_HUMAN			3	785	+			171						Missense_Mutation	SNP	ENST00000371268.3	37	c.511G>A	CCDS601.1	.	.	.	.	.	.	.	.	.	.	G	10.57	1.385896	0.25031	.	.	ENSG00000143001	ENST00000371268	T	0.45276	0.9	3.64	-2.12	0.07165	.	1.386920	0.04810	N	0.435015	T	0.19644	0.0472	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11179	-1.0598	10	0.30078	T	0.28	-0.0283	2.6038	0.04873	0.291:0.3289:0.2874:0.0926	.	171	Q8N0U2	TMM61_HUMAN	T	171	ENSP00000360315:A171T	ENSP00000360315:A171T	A	+	1	0	TMEM61	55230242	0.000000	0.05858	0.000000	0.03702	0.228000	0.25075	-2.445000	0.01011	-0.417000	0.07461	-0.375000	0.07067	GCC		0.642	TMEM61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027683.1	NM_182532	
TTF2	8458	broad.mit.edu	37	1	117638845	117638845	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr1:117638845C>T	ENST00000369466.4	+	20	3154	c.3110C>T	c.(3109-3111)gCc>gTc	p.A1037V	MIR942_ENST00000401111.1_RNA	NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	1037	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CTGACTTATGCCACCATCGAT	0.458																																						uc001egy.2																			0				ovary(1)	1						c.(3109-3111)GCC>GTC		transcription termination factor, RNA polymerase							106.0	92.0	97.0					1																	117638845		2203	4300	6503	SO:0001583	missense	8458				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding	g.chr1:117638845C>T	AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 6"""	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.3110C>T	1.37:g.117638845C>T	ENSP00000358478:p.Ala1037Val						p.A1037V	NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)	20	3130	+	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)	1037			Helicase C-terminal.		A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Missense_Mutation	SNP	ENST00000369466.4	37	c.3110C>T	CCDS892.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.499766	0.85176	.	.	ENSG00000116830	ENST00000369466;ENST00000427271	T;T	0.77229	-1.08;-1.08	4.96	4.96	0.65561	Helicase, C-terminal (3);	0.000000	0.37393	N	0.002120	T	0.61874	0.2382	N	0.04297	-0.235	0.41422	D	0.987803	D	0.59767	0.986	P	0.62813	0.907	T	0.63976	-0.6515	10	0.13470	T	0.59	-8.3226	15.7384	0.77866	0.0:1.0:0.0:0.0	.	1037	Q9UNY4	TTF2_HUMAN	V	1037;18	ENSP00000358478:A1037V;ENSP00000408111:A18V	ENSP00000358478:A1037V	A	+	2	0	TTF2	117440368	0.998000	0.40836	0.981000	0.43875	0.993000	0.82548	2.877000	0.48506	2.584000	0.87258	0.455000	0.32223	GCC		0.458	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033277.3		
PI4KB	5298	broad.mit.edu	37	1	151271347	151271347	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr1:151271347C>T	ENST00000368873.1	-	9	2120	c.1952G>A	c.(1951-1953)cGc>cAc	p.R651H	PI4KB_ENST00000368875.2_Missense_Mutation_p.R663H|PI4KB_ENST00000271657.5_Missense_Mutation_p.R663H|PI4KB_ENST00000368872.1_Missense_Mutation_p.R636H|RN7SL444P_ENST00000578948.1_RNA|PI4KB_ENST00000529142.1_Missense_Mutation_p.R319H|PI4KB_ENST00000368874.4_Missense_Mutation_p.R636H			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	651	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269, ECO:0000305}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CACAAAATTGCGCTGTGCACT	0.502																																					Colon(154;765 1838 9854 28443 37492)	uc001ext.2																			0				ovary(2)|skin(2)	4						c.(1951-1953)CGC>CAC		catalytic phosphatidylinositol 4-kinase beta							210.0	196.0	200.0					1																	151271347		2203	4300	6503	SO:0001583	missense	5298				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr1:151271347C>T	AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.1952G>A	1.37:g.151271347C>T	ENSP00000357867:p.Arg651His					PI4KB_uc001exr.2_Missense_Mutation_p.R663H|PI4KB_uc001exs.2_Missense_Mutation_p.R636H|PI4KB_uc001exu.2_Missense_Mutation_p.R636H|PI4KB_uc010pcw.1_Missense_Mutation_p.R319H	p.R651H	NM_002651	NP_002642	Q9UBF8	PI4KB_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		9	2367	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		651			PI3K/PI4K.		B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Missense_Mutation	SNP	ENST00000368873.1	37	c.1952G>A		.	.	.	.	.	.	.	.	.	.	C	26.8	4.776801	0.90195	.	.	ENSG00000143393	ENST00000368874;ENST00000368875;ENST00000271657;ENST00000368873;ENST00000529142;ENST00000368872;ENST00000455060;ENST00000489889	T;T;T;T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0	5.95	5.05	0.67936	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	T	0.80571	0.4648	M	0.67397	2.05	0.80722	D	1	D;D;D	0.89917	0.957;1.0;0.995	P;D;P	0.74674	0.608;0.984;0.901	D	0.83716	0.0190	10	0.72032	D	0.01	-12.709	14.2098	0.65756	0.0:0.9282:0.0:0.0718	.	651;636;319	Q9UBF8;Q9UBF8-2;Q9UBF8-3	PI4KB_HUMAN;.;.	H	636;663;663;651;319;636;41;55	ENSP00000357868:R636H;ENSP00000357869:R663H;ENSP00000271657:R663H;ENSP00000357867:R651H;ENSP00000433149:R319H;ENSP00000357866:R636H;ENSP00000410974:R41H;ENSP00000432426:R55H	ENSP00000271657:R663H	R	-	2	0	PI4KB	149537971	1.000000	0.71417	1.000000	0.80357	0.704000	0.40688	5.679000	0.68160	1.542000	0.49330	-0.123000	0.14984	CGC		0.502	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651	
HRNR	388697	broad.mit.edu	37	1	152188049	152188049	+	Missense_Mutation	SNP	T	T	G			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr1:152188049T>G	ENST00000368801.2	-	3	6131	c.6056A>C	c.(6055-6057)cAt>cCt	p.H2019P	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2019					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCAGAACCATGTTGCCCATG	0.552																																						uc001ezt.1																			0				skin(2)|ovary(1)	3						c.(6055-6057)CAT>CCT		hornerin							458.0	645.0	582.0					1																	152188049		2166	4199	6365	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152188049T>G	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6056A>C	1.37:g.152188049T>G	ENSP00000357791:p.His2019Pro						p.H2019P	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6132	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2019			22.		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.6056A>C	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	T	4.005	-0.001810	0.07819	.	.	ENSG00000197915	ENST00000368801	T	0.02656	4.21	3.47	0.9	0.19278	.	.	.	.	.	T	0.01029	0.0034	L	0.52573	1.65	0.09310	N	1	D	0.56968	0.978	B	0.42738	0.396	T	0.49000	-0.8984	9	0.27785	T	0.31	.	4.6033	0.12364	0.0:0.1117:0.3848:0.5035	.	2019	Q86YZ3	HORN_HUMAN	P	2019	ENSP00000357791:H2019P	ENSP00000357791:H2019P	H	-	2	0	HRNR	150454673	0.002000	0.14202	0.001000	0.08648	0.009000	0.06853	0.952000	0.29149	0.056000	0.16144	0.414000	0.27820	CAT		0.552	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868	
LCE5A	254910	broad.mit.edu	37	1	152484251	152484251	+	Nonsense_Mutation	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr1:152484251C>T	ENST00000334269.2	+	2	417	c.241C>T	c.(241-243)Cga>Tga	p.R81*	CRCT1_ENST00000368790.3_5'Flank	NM_178438.4	NP_848525.1	Q5TCM9	LCE5A_HUMAN	late cornified envelope 5A	81	Cys-rich.				keratinization (GO:0031424)					lung(3)|ovary(1)|prostate(3)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCCGACGCCGACCTCAGAG	0.677																																						uc001ezy.2																			0				ovary(1)	1						c.(241-243)CGA>TGA		late cornified envelope 5A																																				SO:0001587	stop_gained	254910				keratinization			g.chr1:152484251C>T	BI670518	CCDS1011.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000186207	ENSG00000186207		"""Late cornified envelopes"""	16614	protein-coding gene	gene with protein product		612619	"""small proline rich-like (epidermal differentiation complex) 5A"""	SPRL5A		11698679	Standard	NM_178438		Approved	LEP18	uc001ezy.3	Q5TCM9	OTTHUMG00000014401	ENST00000334269.2:c.241C>T	1.37:g.152484251C>T	ENSP00000333952:p.Arg81*					CRCT1_uc001ezz.2_5'Flank	p.R81*	NM_178438	NP_848525	Q5TCM9	LCE5A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	417	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		81			Cys-rich.			Nonsense_Mutation	SNP	ENST00000334269.2	37	c.241C>T	CCDS1011.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.922213	0.33908	.	.	ENSG00000186207	ENST00000334269	.	.	.	5.09	-0.75	0.11080	.	.	.	.	.	.	.	.	.	.	.	0.21627	N	0.999615	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5563	7.2371	0.26076	0.6105:0.3028:0.0:0.0867	.	.	.	.	X	81	.	ENSP00000333952:R81X	R	+	1	2	LCE5A	150750875	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	-0.465000	0.06680	0.026000	0.15269	-0.235000	0.12190	CGA		0.677	LCE5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040059.1	NM_178438	
ITLN1	55600	broad.mit.edu	37	1	160851913	160851913	+	Missense_Mutation	SNP	G	G	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr1:160851913G>T	ENST00000326245.3	-	4	354	c.239C>A	c.(238-240)aCc>aAc	p.T80N	ITLN1_ENST00000487531.1_5'Flank	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	80	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				positive regulation of glucose import (GO:0046326)|positive regulation of protein phosphorylation (GO:0001934)|response to nematode (GO:0009624)	anchored component of membrane (GO:0031225)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GGCCACCAGGGTCCAGCCGCC	0.592																																						uc001fxc.2																			0				ovary(2)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)	7						c.(238-240)ACC>AAC		intelectin precursor							77.0	69.0	72.0					1																	160851913		2203	4300	6503	SO:0001583	missense	55600				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding	g.chr1:160851913G>T	AB036706	CCDS1211.1	1q21.3	2008-02-05			ENSG00000179914	ENSG00000179914			18259	protein-coding gene	gene with protein product		609873				11313366, 11181563	Standard	NM_017625		Approved	ITLN, FLJ20022, LFR, HL-1, hIntL	uc001fxc.3	Q8WWA0	OTTHUMG00000028604	ENST00000326245.3:c.239C>A	1.37:g.160851913G>T	ENSP00000323587:p.Thr80Asn						p.T80N	NM_017625	NP_060095	Q8WWA0	ITLN1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		4	355	-	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		80			Fibrinogen C-terminal.		Q5IWS4|Q5VYI4|Q6YDJ3|Q9NP67	Missense_Mutation	SNP	ENST00000326245.3	37	c.239C>A	CCDS1211.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314690	0.81358	.	.	ENSG00000179914	ENST00000326245	D	0.96232	-3.95	4.17	4.17	0.49024	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (3);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.64402	D	0.000005	D	0.98585	0.9527	H	0.96175	3.78	0.52099	D	0.999947	D	0.89917	1.0	D	0.87578	0.998	D	0.99457	1.0942	10	0.87932	D	0	-15.8161	14.0049	0.64456	0.0:0.0:1.0:0.0	.	80	Q8WWA0	ITLN1_HUMAN	N	80	ENSP00000323587:T80N	ENSP00000323587:T80N	T	-	2	0	ITLN1	159118537	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.826000	0.75298	2.129000	0.65627	0.655000	0.94253	ACC		0.592	ITLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071462.1	NM_017625	
AXDND1	126859	broad.mit.edu	37	1	179354443	179354443	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr1:179354443G>A	ENST00000367618.3	+	9	1199	c.812G>A	c.(811-813)cGa>cAa	p.R271Q	AXDND1_ENST00000457238.2_Missense_Mutation_p.R271Q|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	271										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						GAACTTATTCGACAAGTCAGT	0.358																																						uc001gmo.2																			0					0						c.(811-813)CGA>CAA		hypothetical protein LOC126859 isoform 1							168.0	161.0	163.0					1																	179354443		2203	4300	6503	SO:0001583	missense	126859							g.chr1:179354443G>A	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.812G>A	1.37:g.179354443G>A	ENSP00000356590:p.Arg271Gln					C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmn.1_Missense_Mutation_p.R59Q|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.R271Q	p.R271Q	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN			9	939	+			271					Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	c.812G>A	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	G	35	5.446683	0.96205	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000457238;ENST00000434088	T;T;T	0.69040	0.69;-0.37;0.95	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.84465	0.5478	M	0.87097	2.86	0.42940	D	0.994341	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.86766	0.1970	10	0.72032	D	0.01	-5.0E-4	17.357	0.87338	0.0:0.0:1.0:0.0	.	229;271;271	E9PCJ4;Q5T1B0;F5GWM2	.;AXDN1_HUMAN;.	Q	271;229;271;205	ENSP00000356590:R271Q;ENSP00000416712:R271Q;ENSP00000391716:R205Q	ENSP00000353471:R229Q	R	+	2	0	AXDND1	177621066	1.000000	0.71417	0.991000	0.47740	0.859000	0.49053	6.623000	0.74238	2.699000	0.92147	0.655000	0.94253	CGA		0.358	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696	
WNT9A	7483	broad.mit.edu	37	1	228112065	228112065	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr1:228112065G>A	ENST00000272164.5	-	3	399	c.389C>T	c.(388-390)tCg>tTg	p.S130L		NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	130					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal system morphogenesis (GO:0048704)|iris morphogenesis (GO:0061072)|mitotic cell cycle checkpoint (GO:0007093)|multicellular organismal development (GO:0007275)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of smoothened signaling pathway (GO:0045880)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				CAGGCCAGCCGAGGAGATGGC	0.662																																						uc001hri.2																			0				central_nervous_system(1)|pancreas(1)	2						c.(388-390)TCG>TTG		wingless-type MMTV integration site family,							54.0	57.0	56.0					1																	228112065		2203	4300	6503	SO:0001583	missense	7483				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity	g.chr1:228112065G>A	AB060283	CCDS31045.1	1q42	2008-02-05	2003-03-11	2003-03-14	ENSG00000143816	ENSG00000143816		"""Wingless-type MMTV integration sites"""	12778	protein-coding gene	gene with protein product		602863	"""wingless-type MMTV integration site family, member 14"""	WNT14		9441749	Standard	NM_003395		Approved		uc001hri.2	O14904	OTTHUMG00000037592	ENST00000272164.5:c.389C>T	1.37:g.228112065G>A	ENSP00000272164:p.Ser130Leu						p.S130L	NM_003395	NP_003386	O14904	WNT9A_HUMAN			3	477	-		Prostate(94;0.0405)	130					A6NLW2|Q2M2J3|Q5VWU0|Q96S50	Missense_Mutation	SNP	ENST00000272164.5	37	c.389C>T	CCDS31045.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.807501	0.90623	.	.	ENSG00000143816	ENST00000272164	T	0.80033	-1.33	4.89	3.98	0.46160	.	0.000000	0.85682	D	0.000000	D	0.91942	0.7448	H	0.96111	3.77	0.58432	D	0.999993	D	0.76494	0.999	D	0.68943	0.961	D	0.93406	0.6764	10	0.87932	D	0	.	12.3202	0.54981	0.0822:0.0:0.9178:0.0	.	130	O14904	WNT9A_HUMAN	L	130	ENSP00000272164:S130L	ENSP00000272164:S130L	S	-	2	0	WNT9A	226178688	1.000000	0.71417	0.746000	0.31095	0.991000	0.79684	9.735000	0.98825	1.067000	0.40740	0.491000	0.48974	TCG		0.662	WNT9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091646.1	NM_003395	
NLRP3	114548	broad.mit.edu	37	1	247587155	247587155	+	Missense_Mutation	SNP	G	G	A	rs138946894	byFrequency	TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr1:247587155G>A	ENST00000336119.3	+	3	1156	c.410G>A	c.(409-411)cGt>cAt	p.R137H	NLRP3_ENST00000366496.2_Missense_Mutation_p.R137H|NLRP3_ENST00000348069.2_Missense_Mutation_p.R137H|NLRP3_ENST00000391828.3_Missense_Mutation_p.R137H|NLRP3_ENST00000391827.2_Missense_Mutation_p.R137H|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366497.2_Missense_Mutation_p.R137H	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	137					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GTAGATTACCGTAAGAAGTAC	0.507																																						uc001icr.2																			0				lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26						c.(409-411)CGT>CAT		NLR family, pyrin domain containing 3 isoform a		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	81.0	64.0	70.0		410,410,410,410,410	3.4	0.6	1	dbSNP_134	70	5,8595	4.3+/-15.6	0,5,4295	yes	missense,missense,missense,missense,missense	NLRP3	NM_001079821.2,NM_001127461.2,NM_001127462.2,NM_004895.4,NM_183395.2	29,29,29,29,29	0,5,6498	AA,AG,GG		0.0581,0.0,0.0384	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	137/1037,137/980,137/980,137/1037,137/923	247587155	5,13001	2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247587155G>A	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.410G>A	1.37:g.247587155G>A	ENSP00000337383:p.Arg137His					NLRP3_uc001ics.2_Missense_Mutation_p.R137H|NLRP3_uc001icu.2_Missense_Mutation_p.R137H|NLRP3_uc001icw.2_Missense_Mutation_p.R137H|NLRP3_uc001icv.2_Missense_Mutation_p.R137H|NLRP3_uc010pyw.1_Missense_Mutation_p.R135H|NLRP3_uc001ict.1_Missense_Mutation_p.R135H	p.R137H	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		5	548	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	137					B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.410G>A	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	G	2.728	-0.264983	0.05754	0.0	5.81E-4	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.74421	-0.75;-0.77;-0.75;-0.84;-0.77;-0.8	4.27	3.36	0.38483	.	0.360356	0.24456	N	0.038369	T	0.60702	0.2289	N	0.24115	0.695	0.09310	N	1	P;P;P;P;P	0.47962	0.587;0.903;0.83;0.901;0.624	B;P;P;B;B	0.44990	0.276;0.466;0.466;0.422;0.276	T	0.51834	-0.8655	10	0.33141	T	0.24	.	8.1468	0.31117	0.1073:0.0:0.8927:0.0	.	137;137;137;137;137	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	H	137	ENSP00000375704:R137H;ENSP00000355453:R137H;ENSP00000337383:R137H;ENSP00000294752:R137H;ENSP00000355452:R137H;ENSP00000375703:R137H	ENSP00000337383:R137H	R	+	2	0	NLRP3	245653778	0.000000	0.05858	0.631000	0.29282	0.056000	0.15407	-0.078000	0.11375	1.401000	0.46761	0.655000	0.94253	CGT		0.507	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895	
ODF3	113746	broad.mit.edu	37	11	197577	197577	+	Silent	SNP	G	G	A	rs374039790		TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr11:197577G>A	ENST00000325113.4	+	3	443	c.126G>A	c.(124-126)acG>acA	p.T42T	ODF3_ENST00000342593.5_Silent_p.T42T|BET1L_ENST00000410108.1_Intron|ODF3_ENST00000525282.1_Silent_p.T42T	NM_053280.3	NP_444510.2	Q96PU9	ODF3A_HUMAN	outer dense fiber of sperm tails 3	42					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	outer dense fiber (GO:0001520)		p.T42T(1)		biliary_tract(1)|breast(1)|kidney(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)	9		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		TGAAGCACACGCCCACCAAGC	0.652																																						uc001lob.2																			1	Substitution - coding silent(1)	p.T42T(1)	ovary(1)	ovary(1)	1						c.(124-126)ACG>ACA		outer dense fiber of sperm tails 3		G		0,4406		0,0,2203	39.0	38.0	38.0		126	-10.0	0.6	11		38	1,8599		0,1,4299	no	coding-synonymous	ODF3	NM_053280.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		42/255	197577	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	113746				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm		g.chr11:197577G>A	AB067774	CCDS7688.1, CCDS65981.1	11p15.5	2010-04-23			ENSG00000177947	ENSG00000177947			19905	protein-coding gene	gene with protein product	"""cancer/testis antigen 135"""	608356				11870087	Standard	NM_001286136		Approved	SHIPPO1, hSHIPPO, CT135	uc001lob.3	Q96PU9	OTTHUMG00000119073	ENST00000325113.4:c.126G>A	11.37:g.197577G>A						ODF3_uc010qvk.1_Silent_p.T42T|ODF3_uc001loc.2_Silent_p.T42T	p.T42T	NM_053280	NP_444510	Q96PU9	ODF3A_HUMAN		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)	3	420	+		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	42					B7ZLT0|Q69YX0	Silent	SNP	ENST00000325113.4	37	c.126G>A	CCDS7688.1																																																																																				0.652	ODF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239287.1		
KRTAP5-4	387267	broad.mit.edu	37	11	1642827	1642827	+	Missense_Mutation	SNP	G	G	C	rs374921824|rs541987207	byFrequency	TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr11:1642827G>C	ENST00000399682.1	-	1	541	c.497C>G	c.(496-498)tCc>tGc	p.S166C		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ACCTGAGGAGGAGCAGCAGGG	0.607													g|||	148	0.0295527	0.056	0.0187	5008	,	,		15114	0.0188		0.0229	False		,,,				2504	0.0194					uc009ycy.1																			0					0						c.(634-636)TCC>TGC		keratin associated protein 5-4							22.0	35.0	31.0					11																	1642827		692	1590	2282	SO:0001583	missense	387267					keratin filament		g.chr11:1642827G>C	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"""Keratin associated proteins"""	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.497C>G	11.37:g.1642827G>C	ENSP00000382590:p.Ser166Cys						p.S212C	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	4	722	-		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	226			9 X 4 AA repeats of C-C-X-P.			Missense_Mutation	SNP	ENST00000399682.1	37	c.635C>G		.	.	.	.	.	.	.	.	.	.	G	2.402	-0.337333	0.05278	.	.	ENSG00000241598	ENST00000399682	T	0.00792	5.69	0.891	-0.0782	0.13716	.	.	.	.	.	T	0.00468	0.0015	N	0.02960	-0.455	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.45056	-0.9287	9	0.51188	T	0.08	.	6.6433	0.22921	0.0:0.5966:0.4034:0.0	.	226	Q6L8H1	KRA54_HUMAN	C	166	ENSP00000382590:S166C	ENSP00000382590:S166C	S	-	2	0	KRTAP5-4	1599403	0.001000	0.12720	0.007000	0.13788	0.001000	0.01503	-0.354000	0.07681	-0.014000	0.14175	-1.289000	0.01358	TCC		0.607	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709	
APBB1	322	broad.mit.edu	37	11	6423823	6423823	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr11:6423823A>G	ENST00000609360.1	-	7	1336	c.1237T>C	c.(1237-1239)Tct>Cct	p.S413P	APBB1_ENST00000609331.1_Missense_Mutation_p.S178P|APBB1_ENST00000529519.1_Intron|APBB1_ENST00000299402.6_Missense_Mutation_p.S413P|APBB1_ENST00000608645.1_Missense_Mutation_p.S154P|APBB1_ENST00000389906.2_Missense_Mutation_p.S413P|APBB1_ENST00000530885.1_Missense_Mutation_p.S193P|APBB1_ENST00000608394.1_Missense_Mutation_p.S154P|APBB1_ENST00000311051.3_Missense_Mutation_p.S413P|APBB1_ENST00000608655.1_Missense_Mutation_p.S193P|APBB1_ENST00000608704.1_Missense_Mutation_p.S154P	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	413	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CAGCCCCCAGACATGGGGTCA	0.582																																					GBM(147;1810 2556 5672 39622)	uc001mdb.1																			0				breast(2)	2						c.(1237-1239)TCT>CCT		amyloid beta A4 precursor protein-binding,							67.0	69.0	68.0					11																	6423823		2201	4296	6497	SO:0001583	missense	322				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	g.chr11:6423823A>G	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.1237T>C	11.37:g.6423823A>G	ENSP00000477213:p.Ser413Pro					APBB1_uc001mcz.1_Missense_Mutation_p.S34P|APBB1_uc001mdd.3_Missense_Mutation_p.S193P|APBB1_uc001mda.2_Intron|APBB1_uc001mdc.1_Missense_Mutation_p.S413P|APBB1_uc010rab.1_5'Flank|APBB1_uc010rac.1_5'Flank|APBB1_uc010rad.1_Missense_Mutation_p.S34P|APBB1_uc010rae.1_Missense_Mutation_p.S178P|APBB1_uc010raf.1_Missense_Mutation_p.S154P|APBB1_uc009yfa.2_Missense_Mutation_p.S154P|APBB1_uc009yey.2_Missense_Mutation_p.S154P|APBB1_uc010rag.1_Missense_Mutation_p.S154P|APBB1_uc009yfb.2_Missense_Mutation_p.S154P|APBB1_uc001mde.2_Missense_Mutation_p.S154P|APBB1_uc010rah.1_Missense_Mutation_p.S154P	p.S413P	NM_001164	NP_001155	O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	7	1337	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	413			PID 1.		A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	ENST00000609360.1	37	c.1237T>C		.	.	.	.	.	.	.	.	.	.	A	14.29	2.491692	0.44249	.	.	ENSG00000166313	ENST00000299402;ENST00000311051;ENST00000389906;ENST00000539758;ENST00000536523;ENST00000544288;ENST00000530885;ENST00000533407	T;T;T;T;T	0.20738	2.05;2.05;2.05;2.05;2.05	4.5	0.728	0.18260	.	0.535464	0.18664	N	0.134659	T	0.06416	0.0165	N	0.02539	-0.55	0.27785	N	0.943027	B;B;B;P	0.41524	0.333;0.089;0.386;0.753	B;B;B;B	0.38985	0.2;0.05;0.123;0.287	T	0.24190	-1.0167	10	0.22109	T	0.4	-3.8256	4.8281	0.13427	0.5185:0.379:0.1024:0.0	.	262;178;193;413	B7Z1H5;F5H1C5;B7Z2Y0;O00213-2	.;.;.;.	P	413;413;413;262;154;178;193;154	ENSP00000299402:S413P;ENSP00000311912:S413P;ENSP00000374556:S413P;ENSP00000433338:S193P;ENSP00000437114:S154P	ENSP00000299402:S413P	S	-	1	0	APBB1	6380399	0.993000	0.37304	1.000000	0.80357	0.998000	0.95712	0.272000	0.18644	0.280000	0.22209	0.482000	0.46254	TCT		0.582	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164	
OR4C12	283093	broad.mit.edu	37	11	50003266	50003266	+	Missense_Mutation	SNP	G	G	A	rs148765699	byFrequency	TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr11:50003266G>A	ENST00000335238.4	-	1	805	c.772C>T	c.(772-774)Cgc>Tgc	p.R258C		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	258						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						GTCACTGAGCGCAGATACACA	0.433													.|||	14	0.00279553	0.0091	0.0014	5008	,	,		19277	0.0		0.001	False		,,,				2504	0.0					uc010ria.1																			0				ovary(2)|skin(1)	3						c.(772-774)CGC>TGC		olfactory receptor, family 4, subfamily C,		G	CYS/ARG	29,4373		0,29,2172	73.0	67.0	69.0		772	-0.7	0.2	11	dbSNP_134	69	1,8591		0,1,4295	yes	missense	OR4C12	NM_001005270.2	180	0,30,6467	AA,AG,GG		0.0116,0.6588,0.2309	probably-damaging	258/310	50003266	30,12964	2201	4296	6497	SO:0001583	missense	283093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:50003266G>A	BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"""GPCR / Class A : Olfactory receptors"""	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.772C>T	11.37:g.50003266G>A	ENSP00000334418:p.Arg258Cys						p.R258C	NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN			1	772	-			258			Extracellular (Potential).		B2RNF0|Q6IF49	Missense_Mutation	SNP	ENST00000335238.4	37	c.772C>T	CCDS31496.1	9	0.004120879120879121	8	0.016260162601626018	0	0.0	0	0.0	1	0.0013192612137203166	.	11.12	1.545868	0.27652	0.006588	1.16E-4	ENSG00000221954	ENST00000335238	T	0.35789	1.29	2.98	-0.725	0.11174	GPCR, rhodopsin-like superfamily (1);	0.169304	0.27886	N	0.017446	T	0.40247	0.1109	M	0.83852	2.665	0.09310	N	0.999995	D	0.89917	1.0	D	0.87578	0.998	T	0.40346	-0.9568	10	0.87932	D	0	.	9.4569	0.38760	0.0:0.0:0.3163:0.6837	.	258	Q96R67	OR4CC_HUMAN	C	258	ENSP00000334418:R258C	ENSP00000334418:R258C	R	-	1	0	OR4C12	49959842	0.000000	0.05858	0.244000	0.24202	0.423000	0.31445	-0.328000	0.07945	0.104000	0.17725	0.398000	0.26397	CGC		0.433	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391104.1	NM_001005270	
OR5D16	390144	broad.mit.edu	37	11	55606713	55606713	+	Silent	SNP	G	G	A	rs201981572		TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr11:55606713G>A	ENST00000378396.1	+	1	486	c.486G>A	c.(484-486)gcG>gcA	p.A162A		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	162						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TGACACTCGCGTGCTCTGCTT	0.453													-|||	1	0.000199681	0.0	0.0	5008	,	,		19905	0.0		0.001	False		,,,				2504	0.0					uc010rio.1																			0				ovary(4)|skin(1)	5						c.(484-486)GCG>GCA		olfactory receptor, family 5, subfamily D,							155.0	139.0	144.0					11																	55606713		2201	4296	6497	SO:0001819	synonymous_variant	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55606713G>A	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.486G>A	11.37:g.55606713G>A							p.A162A	NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN			1	486	+		all_epithelial(135;0.208)	162			Helical; Name=4; (Potential).		Q6IF65|Q96RB4	Silent	SNP	ENST00000378396.1	37	c.486G>A	CCDS31512.1																																																																																				0.453	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496	
OR8H3	390152	broad.mit.edu	37	11	55890211	55890211	+	Missense_Mutation	SNP	T	T	G			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr11:55890211T>G	ENST00000313472.3	+	1	363	c.363T>G	c.(361-363)gaT>gaG	p.D121E		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TGGCCTATGATCGCTATGCAG	0.468																																						uc001nii.1																			0				ovary(2)	2						c.(361-363)GAT>GAG		olfactory receptor, family 8, subfamily H,							225.0	211.0	216.0					11																	55890211		2201	4296	6497	SO:0001583	missense	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890211T>G	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.363T>G	11.37:g.55890211T>G	ENSP00000323928:p.Asp121Glu						p.D121E	NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN			1	363	+	Esophageal squamous(21;0.00693)		121			Cytoplasmic (Potential).		Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	37	c.363T>G	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	T	15.05	2.718023	0.48622	.	.	ENSG00000181761	ENST00000313472	T	0.17691	2.26	3.44	-3.24	0.05094	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000041	T	0.55000	0.1893	H	0.99590	4.645	0.26865	N	0.967878	D	0.89917	1.0	D	0.91635	0.999	T	0.54853	-0.8231	10	0.87932	D	0	.	11.3975	0.49851	0.0:0.6924:0.0:0.3076	.	121	Q8N146	OR8H3_HUMAN	E	121	ENSP00000323928:D121E	ENSP00000323928:D121E	D	+	3	2	OR8H3	55646787	0.009000	0.17119	0.723000	0.30687	0.411000	0.31082	-0.985000	0.03751	-0.579000	0.05952	0.145000	0.16022	GAT		0.468	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201	
TCN1	6947	broad.mit.edu	37	11	59630133	59630133	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr11:59630133C>T	ENST00000257264.3	-	3	426	c.322G>A	c.(322-324)Gct>Act	p.A108T	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	108	Globular N-terminal alpha domain.				cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)	p.A108S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTTTCCTCAGCGTTACGACAT	0.358																																						uc001noj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(322-324)GCT>ACT		transcobalamin I precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						140.0	134.0	136.0					11																	59630133		2201	4295	6496	SO:0001583	missense	6947				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding	g.chr11:59630133C>T	J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"""haptocorin"", ""haptocorrin"""	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.322G>A	11.37:g.59630133C>T	ENSP00000257264:p.Ala108Thr						p.A108T	NM_001062	NP_001053	P20061	TCO1_HUMAN			3	420	-		all_epithelial(135;0.198)	108					A8KAC5|Q8WV77	Missense_Mutation	SNP	ENST00000257264.3	37	c.322G>A	CCDS7978.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.657396	0.29425	.	.	ENSG00000134827	ENST00000257264	T	0.35236	1.32	5.12	-2.42	0.06542	.	0.786233	0.11025	N	0.607951	T	0.13670	0.0331	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16364	-1.0405	10	0.39692	T	0.17	.	1.0605	0.01600	0.2527:0.1231:0.375:0.2492	.	108	P20061	TCO1_HUMAN	T	108	ENSP00000257264:A108T	ENSP00000257264:A108T	A	-	1	0	TCN1	59386709	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.273000	0.08548	-0.325000	0.08577	-0.134000	0.14843	GCT		0.358	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394503.1	NM_001062	
AHNAK	79026	broad.mit.edu	37	11	62284308	62284308	+	Nonsense_Mutation	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr11:62284308G>A	ENST00000378024.4	-	5	17855	c.17581C>T	c.(17581-17583)Cga>Tga	p.R5861*	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000525875.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5861					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GAGGACAGTCGGGACTTCTTA	0.522																																						uc001ntl.2																			0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(17581-17583)CGA>TGA		AHNAK nucleoprotein isoform 1							177.0	160.0	166.0					11																	62284308		2202	4299	6501	SO:0001587	stop_gained	79026				nervous system development	nucleus	protein binding	g.chr11:62284308G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.17581C>T	11.37:g.62284308G>A	ENSP00000367263:p.Arg5861*					AHNAK_uc001ntk.1_Intron	p.R5861*	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	17881	-		Melanoma(852;0.155)	5861					A1A586	Nonsense_Mutation	SNP	ENST00000378024.4	37	c.17581C>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	G	57	30.039709	0.99976	.	.	ENSG00000124942	ENST00000378024	.	.	.	4.77	3.75	0.43078	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.8311	13.6094	0.62068	0.0:0.0:0.7462:0.2538	.	.	.	.	X	5861	.	ENSP00000367263:R5861X	R	-	1	2	AHNAK	62040884	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.793000	0.47845	2.185000	0.69588	0.549000	0.68633	CGA		0.522	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060	
TECTA	7007	broad.mit.edu	37	11	120983846	120983846	+	Silent	SNP	C	C	T	rs148364865		TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr11:120983846C>T	ENST00000392793.1	+	5	823	c.552C>T	c.(550-552)taC>taT	p.Y184Y	TECTA_ENST00000264037.2_Silent_p.Y184Y			O75443	TECTA_HUMAN	tectorin alpha	184	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TCAATTATTACGAAATCAACT	0.567											OREG0021430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0008	0.0	5008	,	,		18575	0.0		0.0	False		,,,				2504	0.0					uc010rzo.1																			0				breast(6)|ovary(2)|skin(2)	10						c.(550-552)TAC>TAT		tectorin alpha precursor		C		6,4400	12.9+/-30.5	0,6,2197	99.0	87.0	91.0		552	-4.1	0.9	11	dbSNP_134	91	0,8598		0,0,4299	no	coding-synonymous	TECTA	NM_005422.2		0,6,6496	TT,TC,CC		0.0,0.1362,0.0461		184/2156	120983846	6,12998	2203	4299	6502	SO:0001819	synonymous_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120983846C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.552C>T	11.37:g.120983846C>T			OREG0021430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1508		p.Y184Y	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	4	552	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	184			NIDO.			Silent	SNP	ENST00000392793.1	37	c.552C>T	CCDS8434.1																																																																																				0.567	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422	
OR4D5	219875	broad.mit.edu	37	11	123811110	123811110	+	Missense_Mutation	SNP	C	C	T	rs141929562	byFrequency	TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr11:123811110C>T	ENST00000307033.2	+	1	861	c.787C>T	c.(787-789)Cgg>Tgg	p.R263W		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	263						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AAGGCCTTTTCGGACATTCCC	0.512													C|||	2	0.000399361	0.0	0.0	5008	,	,		22228	0.0		0.001	False		,,,				2504	0.001					uc001pzk.1																			0				ovary(1)	1						c.(787-789)CGG>TGG		olfactory receptor, family 4, subfamily D,		C	TRP/ARG	0,4404		0,0,2202	184.0	142.0	156.0		787	1.9	0.5	11	dbSNP_134	156	1,8597	1.2+/-3.3	0,1,4298	no	missense	OR4D5	NM_001001965.1	101	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	263/319	123811110	1,13001	2202	4299	6501	SO:0001583	missense	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123811110C>T	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"""GPCR / Class A : Olfactory receptors"""	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.787C>T	11.37:g.123811110C>T	ENSP00000305970:p.Arg263Trp						p.R263W	NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	787	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	263			Extracellular (Potential).		B9EGZ4|Q6IFE6	Missense_Mutation	SNP	ENST00000307033.2	37	c.787C>T	CCDS31699.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	14.86	2.662798	0.47572	0.0	1.16E-4	ENSG00000171014	ENST00000307033	T	0.00107	8.72	4.96	1.91	0.25777	GPCR, rhodopsin-like superfamily (1);	0.896444	0.09216	N	0.832611	T	0.00271	0.0008	L	0.49126	1.545	0.09310	N	1	P	0.44816	0.844	P	0.55303	0.773	T	0.47071	-0.9145	10	0.87932	D	0	-0.2272	4.0139	0.09636	0.4777:0.3212:0.0:0.2011	.	263	Q8NGN0	OR4D5_HUMAN	W	263	ENSP00000305970:R263W	ENSP00000305970:R263W	R	+	1	2	OR4D5	123316320	0.000000	0.05858	0.519000	0.27824	0.956000	0.61745	-2.175000	0.01263	0.218000	0.20820	0.650000	0.86243	CGG		0.512	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965	
ATN1	1822	broad.mit.edu	37	12	7047759	7047759	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr12:7047759C>T	ENST00000356654.4	+	7	2870	c.2633C>T	c.(2632-2634)cCt>cTt	p.P878L	ATN1_ENST00000396684.2_Missense_Mutation_p.P878L	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	878					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TACCTGGGTCCTGACACTCCA	0.632											OREG0021641	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001qrw.1																			0				ovary(2)|breast(2)|pancreas(1)|skin(1)	6						c.(2632-2634)CCT>CTT		atrophin-1							68.0	70.0	70.0					12																	7047759		2203	4300	6503	SO:0001583	missense	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7047759C>T	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.2633C>T	12.37:g.7047759C>T	ENSP00000349076:p.Pro878Leu		OREG0021641	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	638	ATN1_uc001qrx.1_Missense_Mutation_p.P878L	p.P878L	NM_001007026	NP_001007027	P54259	ATN1_HUMAN			7	2870	+			878					Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	ENST00000356654.4	37	c.2633C>T	CCDS31734.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.049459	0.93740	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325;ENST00000229279	T;T;T	0.57595	0.39;0.39;0.39	4.96	4.96	0.65561	.	0.244071	0.21236	U	0.077886	T	0.70806	0.3266	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72686	-0.4218	10	0.87932	D	0	.	18.8408	0.92183	0.0:1.0:0.0:0.0	.	878	P54259	ATN1_HUMAN	L	878;878;878;463	ENSP00000349076:P878L;ENSP00000379915:P878L;ENSP00000441744:P878L	ENSP00000229279:P463L	P	+	2	0	ATN1	6918020	1.000000	0.71417	0.768000	0.31515	0.936000	0.57629	7.584000	0.82572	2.767000	0.95098	0.650000	0.86243	CCT		0.632	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940	
SLC26A10	65012	broad.mit.edu	37	12	58014190	58014190	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr12:58014190G>A	ENST00000320442.4	+	1	498	c.187G>A	c.(187-189)Gtc>Atc	p.V63I	AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000444467.1_RNA|SLC26A10_ENST00000379218.2_Missense_Mutation_p.V63I	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	63						integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					TTTCTTCCCCGTCCTCATCTA	0.537																																						uc001spe.2																			0				large_intestine(1)|central_nervous_system(1)	2						c.(187-189)GTC>ATC		solute carrier family 26, member 10							396.0	385.0	389.0					12																	58014190		2203	4300	6503	SO:0001583	missense	65012					integral to membrane	antiporter activity	g.chr12:58014190G>A		CCDS8949.2	12q13	2013-07-18			ENSG00000135502	ENSG00000135502		"""Solute carriers"""	14470	protein-coding gene	gene with protein product							Standard	NM_133489		Approved		uc001spe.3	Q8NG04	OTTHUMG00000128505	ENST00000320442.4:c.187G>A	12.37:g.58014190G>A	ENSP00000320217:p.Val63Ile					uc001spc.2_5'Flank|SLC26A10_uc001spf.2_RNA	p.V63I	NM_133489	NP_597996	Q8NG04	S2610_HUMAN			1	498	+	Melanoma(17;0.122)		63			Helical; (Potential).		A6NMJ2|B6ZDQ3|Q6ZWI7	Missense_Mutation	SNP	ENST00000320442.4	37	c.187G>A	CCDS8949.2	.	.	.	.	.	.	.	.	.	.	.	20.3	3.959685	0.74016	.	.	ENSG00000135502	ENST00000320442;ENST00000379218	D;D	0.91631	-2.88;-2.88	4.71	3.82	0.43975	.	.	.	.	.	D	0.90998	0.7169	N	0.25957	0.775	0.40024	D	0.975447	D	0.71674	0.998	D	0.64321	0.924	D	0.88761	0.3257	9	0.28530	T	0.3	.	10.6174	0.45458	0.0931:0.0:0.9069:0.0	.	63	Q8NG04	S2610_HUMAN	I	63	ENSP00000320217:V63I;ENSP00000368520:V63I	ENSP00000320217:V63I	V	+	1	0	SLC26A10	56300457	1.000000	0.71417	0.864000	0.33941	0.931000	0.56810	4.990000	0.63876	1.356000	0.45884	0.655000	0.94253	GTC		0.537	SLC26A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250311.2		
NOS1	4842	broad.mit.edu	37	12	117723944	117723944	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr12:117723944G>A	ENST00000338101.4	-	5	1259	c.1255C>T	c.(1255-1257)Cgc>Tgc	p.R419C	NOS1_ENST00000317775.6_Missense_Mutation_p.R419C|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		CCCACACAGCGCGAGGCATTC	0.557																																					Esophageal Squamous(162;1748 2599 51982 52956)	uc001twm.1																			0				ovary(3)|skin(3)|pancreas(1)	7						c.(1255-1257)CGC>TGC		nitric oxide synthase 1, neuronal	L-Citrulline(DB00155)						130.0	131.0	131.0					12																	117723944		2168	4298	6466	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117723944G>A		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.1255C>T	12.37:g.117723944G>A	ENSP00000337459:p.Arg419Cys						p.R419C	NM_000620	NP_000611	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	6	1941	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		419						Missense_Mutation	SNP	ENST00000338101.4	37	c.1255C>T	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.305182	0.81247	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.56444	0.46;0.46	4.93	4.93	0.64822	Nitric oxide synthase, oxygenase domain (4);	0.000000	0.85682	D	0.000000	T	0.81763	0.4891	H	0.96175	3.78	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.87928	0.2708	10	0.87932	D	0	-26.0352	18.3299	0.90264	0.0:0.0:1.0:0.0	.	419	P29475	NOS1_HUMAN	C	419	ENSP00000320758:R419C;ENSP00000337459:R419C	ENSP00000320758:R419C	R	-	1	0	NOS1	116208327	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.362000	0.59467	2.559000	0.86315	0.591000	0.81541	CGC		0.557	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1		
KDM2B	84678	broad.mit.edu	37	12	121890960	121890960	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr12:121890960C>T	ENST00000377071.4	-	13	1994	c.1922G>A	c.(1921-1923)cGc>cAc	p.R641H	KDM2B_ENST00000542973.1_Missense_Mutation_p.R9H|KDM2B_ENST00000377069.4_Missense_Mutation_p.R610H|KDM2B_ENST00000536437.1_Missense_Mutation_p.R524H	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	641					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CTGCTTCATGCGCCCGGGGCC	0.706																																						uc001uat.2																			0				ovary(1)|skin(1)	2						c.(1921-1923)CGC>CAC		F-box and leucine-rich repeat protein 10 isoform							22.0	26.0	25.0					12																	121890960		2032	4182	6214	SO:0001583	missense	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121890960C>T	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.1922G>A	12.37:g.121890960C>T	ENSP00000366271:p.Arg641His					KDM2B_uc001uaq.2_Missense_Mutation_p.R81H|KDM2B_uc010szy.1_Missense_Mutation_p.R81H|KDM2B_uc001uar.2_Missense_Mutation_p.R232H|KDM2B_uc001uas.2_Missense_Mutation_p.R610H|KDM2B_uc001uau.2_Missense_Mutation_p.R524H	p.R641H	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN			13	2026	-			641			CXXC-type.		A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	c.1922G>A	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.937733	0.92458	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000536437;ENST00000397478;ENST00000540043;ENST00000261824	T;T;T;T	0.52754	0.97;2.05;1.46;0.65	5.11	4.21	0.49690	Zinc finger, CXXC-type (2);	0.296225	0.23310	N	0.049569	T	0.71576	0.3356	M	0.85542	2.76	0.51767	D	0.999931	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.927;0.998;0.971;0.993;0.95	T	0.77781	-0.2459	10	0.87932	D	0	-18.0175	15.0117	0.71555	0.1436:0.8564:0.0:0.0	.	81;524;641;610;81	B7ZB05;Q1RLM7;Q8NHM5;A8MRS1;B4DSN4	.;.;KDM2B_HUMAN;.;.	H	641;9;610;641;524;641;81;641	ENSP00000437821:R9H;ENSP00000366269:R610H;ENSP00000366271:R641H;ENSP00000445196:R524H	ENSP00000261824:R641H	R	-	2	0	KDM2B	120375343	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.932000	0.70121	1.359000	0.45940	0.555000	0.69702	CGC		0.706	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590	
KBTBD6	89890	broad.mit.edu	37	13	41705212	41705212	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr13:41705212A>G	ENST00000379485.1	-	1	1670	c.1436T>C	c.(1435-1437)cTa>cCa	p.L479P	KBTBD6_ENST00000499385.2_Missense_Mutation_p.L413P	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	479										NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		AATTACCATTAGGTCAAAGGA	0.433																																						uc001uxu.1																			0				ovary(1)|skin(1)	2						c.(1435-1437)CTA>CCA		kelch repeat and BTB (POZ) domain-containing 6							76.0	78.0	77.0					13																	41705212		2203	4300	6503	SO:0001583	missense	89890						protein binding	g.chr13:41705212A>G	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1436T>C	13.37:g.41705212A>G	ENSP00000368799:p.Leu479Pro					KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Missense_Mutation_p.L413P|uc001uxv.1_5'Flank	p.L479P	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	1	1725	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	479			Kelch 2.		Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	ENST00000379485.1	37	c.1436T>C	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	a	10.51	1.369946	0.24771	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.68025	-0.3;-0.3	3.8	3.8	0.43715	Kelch-type beta propeller (1);	0.086147	0.47455	D	0.000224	T	0.68924	0.3054	L	0.27053	0.805	0.58432	D	0.999999	D;D	0.76494	0.999;0.993	D;P	0.70227	0.968;0.836	T	0.72235	-0.4352	10	0.87932	D	0	.	10.7997	0.46480	1.0:0.0:0.0:0.0	.	413;479	F5GZN7;Q86V97	.;KBTB6_HUMAN	P	479;413	ENSP00000368799:L479P;ENSP00000444326:L413P	ENSP00000368799:L479P	L	-	2	0	KBTBD6	40603212	0.938000	0.31826	0.183000	0.23137	0.034000	0.12701	7.225000	0.78051	1.731000	0.51592	0.379000	0.24179	CTA		0.433	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903	
TSHR	7253	broad.mit.edu	37	14	81610025	81610025	+	Silent	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr14:81610025C>T	ENST00000541158.2	+	11	1945	c.1623C>T	c.(1621-1623)atC>atT	p.I541I	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Silent_p.I541I			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	541					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CATGTGCCATCATGGTTGGGG	0.587			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																															uc001xvd.1			yes	Dom	yes		14	14q31	7253	Mis	thyroid stimulating hormone receptor	yes	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 	E		thyroid  adenoma	toxic thyroid adenoma		0				thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1)	299						c.(1621-1623)ATC>ATT		thyroid stimulating hormone receptor isoform 1	Thyrotropin Alfa(DB00024)						488.0	332.0	385.0					14																	81610025		2203	4300	6503	SO:0001819	synonymous_variant	7253				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	g.chr14:81610025C>T	AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.1623C>T	14.37:g.81610025C>T							p.I541I	NM_000369	NP_000360	P16473	TSHR_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0402)	10	1779	+			541			Helical; Name=4; (Potential).		A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Silent	SNP	ENST00000541158.2	37	c.1623C>T	CCDS9872.1																																																																																				0.587	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369	
ASB2	51676	broad.mit.edu	37	14	94404157	94404157	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr14:94404157G>A	ENST00000315988.4	-	7	2002	c.1514C>T	c.(1513-1515)gCg>gTg	p.A505V	RP11-131H24.4_ENST00000557646.1_5'Flank|ASB2_ENST00000555019.1_Missense_Mutation_p.A553V|ASB2_ENST00000556337.1_5'Flank	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	505					intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		GATGGGCCCCGCCCAGCGGCT	0.597																																						uc001ycc.1																			0				ovary(1)|pancreas(1)	2						c.(1513-1515)GCG>GTG		ankyrin repeat and SOCS box-containing protein							57.0	50.0	53.0					14																	94404157		2203	4300	6503	SO:0001583	missense	51676				intracellular signal transduction			g.chr14:94404157G>A	AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"""Ankyrin repeat domain containing"""	16012	protein-coding gene	gene with protein product		605759	"""ankyrin repeat and SOCS box-containing 2"""				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.1514C>T	14.37:g.94404157G>A	ENSP00000320675:p.Ala505Val					ASB2_uc001ycb.1_Missense_Mutation_p.A199V|ASB2_uc001ycd.2_Missense_Mutation_p.A553V|ASB2_uc001yce.1_Missense_Mutation_p.A451V	p.A505V	NM_016150	NP_057234	Q96Q27	ASB2_HUMAN		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)	7	2003	-		all_cancers(154;0.13)	505					B2RDP9|B4E166|Q9NSU5|Q9Y567	Missense_Mutation	SNP	ENST00000315988.4	37	c.1514C>T	CCDS9915.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.198385	0.58126	.	.	ENSG00000100628	ENST00000555019;ENST00000434324;ENST00000315988;ENST00000543546;ENST00000555507	T;T;T	0.69926	-0.44;-0.29;-0.33	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.72260	0.3438	L	0.28400	0.85	0.49915	D	0.999838	D;D;D	0.89917	0.995;1.0;0.995	P;D;P	0.80764	0.629;0.994;0.629	T	0.66854	-0.5818	10	0.16896	T	0.51	-0.0639	18.5726	0.91142	0.0:0.0:1.0:0.0	.	521;553;505	B3KPZ6;B4E166;Q96Q27	.;.;ASB2_HUMAN	V	553;521;505;451;451	ENSP00000451575:A553V;ENSP00000320675:A505V;ENSP00000450940:A451V	ENSP00000320675:A505V	A	-	2	0	ASB2	93473910	1.000000	0.71417	0.985000	0.45067	0.933000	0.57130	9.869000	0.99810	2.387000	0.81309	0.462000	0.41574	GCG		0.597	ASB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412845.1		
MGA	23269	broad.mit.edu	37	15	42058284	42058284	+	Silent	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr15:42058284C>T	ENST00000570161.1	+	23	8004	c.8004C>T	c.(8002-8004)ggC>ggT	p.G2668G	MGA_ENST00000219905.7_Silent_p.G2668G|MGA_ENST00000566586.1_Silent_p.G2459G|MGA_ENST00000389936.4_Silent_p.G2629G|MGA_ENST00000545763.1_Silent_p.G2459G			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATATGGGTGGCAGCAAATATC	0.393																																						uc010ucy.1																			0				ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12						c.(8002-8004)GGC>GGT		MAX-interacting protein isoform 1							85.0	81.0	82.0					15																	42058284		1896	4129	6025	SO:0001819	synonymous_variant	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42058284C>T	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.8004C>T	15.37:g.42058284C>T						MGA_uc010ucz.1_Silent_p.G2459G	p.G2668G	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	24	8185	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	2629					Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000570161.1	37	c.8004C>T	CCDS55959.1																																																																																				0.393	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1	
EIF3J	8669	broad.mit.edu	37	15	44849840	44849840	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr15:44849840G>A	ENST00000261868.5	+	6	701	c.563G>A	c.(562-564)tGt>tAt	p.C188Y	RP11-151N17.1_ENST00000558006.1_RNA|EIF3J_ENST00000535391.1_Intron|EIF3J_ENST00000424492.3_Missense_Mutation_p.C139Y	NM_003758.2	NP_003749.2			eukaryotic translation initiation factor 3, subunit J											endometrium(1)|large_intestine(5)|liver(2)|skin(1)	9		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)		CGAGATGTGTGTATTTCATGT	0.313																																						uc001ztv.2																			0					0						c.(562-564)TGT>TAT		eukaryotic translation initiation factor 3,							55.0	62.0	59.0					15																	44849840		2197	4295	6492	SO:0001583	missense	8669					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr15:44849840G>A	U97670	CCDS10111.1, CCDS61612.1, CCDS61613.1	15q21.1	2014-05-13	2007-07-27	2007-07-27	ENSG00000104131	ENSG00000104131			3270	protein-coding gene	gene with protein product		603910	"""eukaryotic translation initiation factor 3, subunit 1 alpha, 35kDa"""	EIF3S1		9822659	Standard	NM_001284335		Approved	eIF3-p35, eIF3-alpha, eIF3j	uc001ztv.3	O75822	OTTHUMG00000131158	ENST00000261868.5:c.563G>A	15.37:g.44849840G>A	ENSP00000261868:p.Cys188Tyr					EIF3J_uc010ueg.1_Intron|EIF3J_uc001ztw.2_Missense_Mutation_p.C139Y	p.C188Y	NM_003758	NP_003749	O75822	EIF3J_HUMAN		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)	6	690	+		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)	188						Missense_Mutation	SNP	ENST00000261868.5	37	c.563G>A	CCDS10111.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.239675	0.79800	.	.	ENSG00000104131	ENST00000261868;ENST00000424492	T;T	0.45276	0.9;0.9	5.77	4.84	0.62591	Eukaryotic translation initiation factor 3-like domain (1);	0.042984	0.85682	D	0.000000	T	0.65123	0.2661	M	0.76727	2.345	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.985;1.0	T	0.68584	-0.5370	10	0.52906	T	0.07	.	16.1398	0.81515	0.0:0.0:0.8653:0.1347	.	139;188	F5H425;O75822	.;EIF3J_HUMAN	Y	188;139	ENSP00000261868:C188Y;ENSP00000414548:C139Y	ENSP00000261868:C188Y	C	+	2	0	EIF3J	42637132	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.473000	0.97714	1.416000	0.47057	0.655000	0.94253	TGT		0.313	EIF3J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253850.1	NM_003758	
MORF4L1	10933	broad.mit.edu	37	15	79183885	79183885	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr15:79183885A>G	ENST00000331268.5	+	8	730	c.526A>G	c.(526-528)Agg>Ggg	p.R176G	MORF4L1_ENST00000379535.4_Missense_Mutation_p.R162G|MORF4L1_ENST00000426013.2_Missense_Mutation_p.R137G|MORF4L1_ENST00000558746.1_Missense_Mutation_p.R110G|MORF4L1_ENST00000559345.1_Missense_Mutation_p.R49G|MORF4L1_ENST00000561171.1_Intron|MORF4L1_ENST00000558502.1_Missense_Mutation_p.R49G	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	176	Interaction with RB1-1.|Sufficient for interaction with SIN3A.				cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|double-strand break repair via homologous recombination (GO:0000724)|histone deacetylation (GO:0016575)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|Sin3 complex (GO:0016580)	chromatin binding (GO:0003682)|protein N-terminus binding (GO:0047485)			breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						TCGGAAGAAAAGGGCCCGGGT	0.448																																						uc002bel.2																			0					0						c.(526-528)AGG>GGG		MORF-related gene 15 isoform 2							59.0	59.0	59.0					15																	79183885		2196	4293	6489	SO:0001583	missense	10933				double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding	g.chr15:79183885A>G	AF100615	CCDS10307.1, CCDS32304.1, CCDS58393.1	15q25.1	2009-07-13			ENSG00000185787	ENSG00000185787			16989	protein-coding gene	gene with protein product	"""MORF-related gene on chromosome 15"", ""Esa1p-associated factor 3 homolog (S. cerevisiae)"""	607303				8619474, 9110174	Standard	NM_006791		Approved	MRG15, MORFRG15, HsT17725, Eaf3, MEAF3	uc002bel.4	Q9UBU8	OTTHUMG00000143865	ENST00000331268.5:c.526A>G	15.37:g.79183885A>G	ENSP00000331310:p.Arg176Gly					MORF4L1_uc010bli.1_3'UTR|MORF4L1_uc010blj.1_Missense_Mutation_p.R110G|MORF4L1_uc002bem.2_Missense_Mutation_p.R137G|MORF4L1_uc010une.1_Missense_Mutation_p.R49G	p.R176G	NM_206839	NP_996670	Q9UBU8	MO4L1_HUMAN			8	714	+			176			Sufficient for interaction with SIN3A.|Interaction with RB1-1.		B4DKN6|B7Z6R1|D3DW88|O95899|Q5QTS1|Q6NVX8|Q86YT7|Q9HBP6|Q9NSW5	Missense_Mutation	SNP	ENST00000331268.5	37	c.526A>G	CCDS10307.1	.	.	.	.	.	.	.	.	.	.	A	19.05	3.751251	0.69533	.	.	ENSG00000185787	ENST00000379535;ENST00000426013;ENST00000331268	T;T;T	0.10573	2.86;2.86;2.86	4.91	3.76	0.43208	.	0.000000	0.85682	D	0.000000	T	0.27697	0.0681	M	0.78916	2.43	0.58432	D	0.999992	B;B;D	0.56035	0.222;0.343;0.974	B;B;D	0.63033	0.22;0.211;0.91	T	0.01444	-1.1353	10	0.32370	T	0.25	-16.6019	10.2468	0.43345	0.6822:0.3178:0.0:0.0	.	137;137;176	A5D8W6;Q9UBU8-2;Q9UBU8	.;.;MO4L1_HUMAN	G	162;137;176	ENSP00000368850:R162G;ENSP00000408880:R137G;ENSP00000331310:R176G	ENSP00000331310:R176G	R	+	1	2	MORF4L1	76970940	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	4.256000	0.58810	0.803000	0.34113	0.459000	0.35465	AGG		0.448	MORF4L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000290131.4	NM_006791	
GRIN2A	2903	broad.mit.edu	37	16	9943716	9943716	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr16:9943716C>T	ENST00000396573.2	-	6	1534	c.1225G>A	c.(1225-1227)Gtc>Atc	p.V409I	GRIN2A_ENST00000404927.2_Missense_Mutation_p.V409I|GRIN2A_ENST00000396575.2_Missense_Mutation_p.V409I|GRIN2A_ENST00000330684.3_Missense_Mutation_p.V409I|GRIN2A_ENST00000562109.1_Missense_Mutation_p.V409I|GRIN2A_ENST00000535259.1_Missense_Mutation_p.V252I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	409					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TCCAGGGTGACGATGCTGAGA	0.582																																						uc002czo.3																			0				skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(1225-1227)GTC>ATC		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						169.0	134.0	146.0					16																	9943716		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9943716C>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.1225G>A	16.37:g.9943716C>T	ENSP00000379818:p.Val409Ile					GRIN2A_uc010uym.1_Missense_Mutation_p.V409I|GRIN2A_uc010uyn.1_Missense_Mutation_p.V252I|GRIN2A_uc002czr.3_Missense_Mutation_p.V409I	p.V409I	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			5	1773	-			409			Extracellular (Potential).		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.1225G>A	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	35	5.540522	0.96474	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.07567	3.18;3.18;3.18;3.18;3.18	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.31358	0.0794	M	0.84846	2.72	0.80722	D	1	D;D;D	0.64830	0.993;0.994;0.992	P;P;P	0.61658	0.822;0.668;0.892	T	0.08126	-1.0737	9	.	.	.	.	17.7785	0.88516	0.0:1.0:0.0:0.0	.	252;409;409	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	I	409;409;252;409;409	ENSP00000379818:V409I;ENSP00000385872:V409I;ENSP00000441572:V252I;ENSP00000332549:V409I;ENSP00000379820:V409I	.	V	-	1	0	GRIN2A	9851217	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	7.684000	0.84104	2.430000	0.82344	0.655000	0.94253	GTC		0.582	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3		
CPNE7	27132	broad.mit.edu	37	16	89649923	89649923	+	Missense_Mutation	SNP	C	C	T	rs202128349		TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr16:89649923C>T	ENST00000268720.5	+	4	699	c.569C>T	c.(568-570)aCg>aTg	p.T190M	CPNE7_ENST00000319518.8_Intron	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	190					lipid metabolic process (GO:0006629)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		GGTGGCCACACGCAGGGATGG	0.642													c|||	1	0.000199681	0.0	0.0	5008	,	,		15643	0.0		0.001	False		,,,				2504	0.0					uc002fnp.2																			0					0						c.(568-570)ACG>ATG		copine 7 isoform b							22.0	16.0	18.0					16																	89649923		2139	4249	6388	SO:0001583	missense	27132				lipid metabolic process		transporter activity	g.chr16:89649923C>T	AJ133798	CCDS10980.1, CCDS10981.1	16q24.3	2008-07-03			ENSG00000178773	ENSG00000178773			2320	protein-coding gene	gene with protein product		605689					Standard	NM_014427		Approved		uc002fnq.3	Q9UBL6	OTTHUMG00000138051	ENST00000268720.5:c.569C>T	16.37:g.89649923C>T	ENSP00000268720:p.Thr190Met					CPNE7_uc002fnq.2_Intron	p.T190M	NM_014427	NP_055242	Q9UBL6	CPNE7_HUMAN		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)	4	699	+		all_hematologic(23;0.0748)	190						Missense_Mutation	SNP	ENST00000268720.5	37	c.569C>T	CCDS10980.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	6.819	0.520203	0.13005	.	.	ENSG00000178773	ENST00000268720	T	0.30448	1.53	2.29	-0.0285	0.13922	.	0.376195	0.14385	U	0.322917	T	0.12305	0.0299	N	0.24115	0.695	0.09310	N	1	P	0.40534	0.72	B	0.15870	0.014	T	0.15292	-1.0442	10	0.66056	D	0.02	.	4.8415	0.13492	0.0:0.4301:0.4243:0.1456	.	190	Q9UBL6	CPNE7_HUMAN	M	190	ENSP00000268720:T190M	ENSP00000268720:T190M	T	+	2	0	CPNE7	88177424	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.338000	0.02655	-0.144000	0.11314	0.506000	0.49869	ACG		0.642	CPNE7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269929.2		
NF1	4763	broad.mit.edu	37	17	29533378	29533378	+	Nonsense_Mutation	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr17:29533378C>T	ENST00000358273.4	+	12	1764	c.1381C>T	c.(1381-1383)Cga>Tga	p.R461*	NF1_ENST00000431387.4_Nonsense_Mutation_p.R461*|NF1_ENST00000356175.3_Nonsense_Mutation_p.R461*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	461					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(6)|p.R461*(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCCAGCAATACGAATGGCACC	0.383			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		17	Whole gene deletion(8)|Unknown(6)|Substitution - Nonsense(3)	p.R461*(2)|p.?(2)	soft_tissue(8)|autonomic_ganglia(4)|central_nervous_system(4)|lung(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	GRCh37	CM000780	NF1	M		c.(1381-1383)CGA>TGA		neurofibromin isoform 1							174.0	157.0	163.0					17																	29533378		2203	4300	6503	SO:0001587	stop_gained	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29533378C>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1381C>T	17.37:g.29533378C>T	ENSP00000351015:p.Arg461*	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hge.1_Nonsense_Mutation_p.R461*|NF1_uc002hgf.1_Nonsense_Mutation_p.R461*|NF1_uc002hgh.2_Nonsense_Mutation_p.R461*|NF1_uc010csn.1_Nonsense_Mutation_p.R321*	p.R461*	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	12	1714	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	461					O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	c.1381C>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.934837	0.92458	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	6.17	4.16	0.48862	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8528	0.78947	0.2481:0.7519:0.0:0.0	.	.	.	.	X	461;461;461;127	.	ENSP00000348498:R461X	R	+	1	2	NF1	26557504	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.509000	0.53386	0.905000	0.36596	0.655000	0.94253	CGA		0.383	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
NF1	4763	broad.mit.edu	37	17	29552132	29552132	+	Missense_Mutation	SNP	G	G	T	rs535869486		TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr17:29552132G>T	ENST00000358273.4	+	17	2248	c.1865G>T	c.(1864-1866)tGt>tTt	p.C622F	NF1_ENST00000356175.3_Missense_Mutation_p.C622F	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	622					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGAAGTTCCTGTCACTTTCTC	0.373			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		12	Whole gene deletion(8)|Unknown(4)	p.?(2)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330						c.(1864-1866)TGT>TTT		neurofibromin isoform 1							129.0	134.0	132.0					17																	29552132		2203	4300	6503	SO:0001583	missense	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29552132G>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1865G>T	17.37:g.29552132G>T	ENSP00000351015:p.Cys622Phe	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Missense_Mutation_p.C622F|NF1_uc010csn.1_Missense_Mutation_p.C482F|NF1_uc002hgi.1_5'UTR	p.C622F	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	17	2198	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	622					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.1865G>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.984861	0.35036	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.09163	3.14;3.29;3.01	5.19	4.15	0.48705	Armadillo-type fold (1);	0.425238	0.25820	N	0.028093	T	0.06554	0.0168	N	0.08118	0	0.80722	D	1	B;B;B	0.32693	0.38;0.036;0.012	B;B;B	0.28784	0.094;0.054;0.011	T	0.39840	-0.9594	10	0.72032	D	0.01	.	15.7033	0.77558	0.0:0.1488:0.8512:0.0	.	622;622;622	E1P657;P21359-2;P21359	.;.;NF1_HUMAN	F	622;622;288	ENSP00000351015:C622F;ENSP00000348498:C622F;ENSP00000389907:C288F	ENSP00000348498:C622F	C	+	2	0	NF1	26576258	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.165000	0.58196	2.409000	0.81822	0.655000	0.94253	TGT		0.373	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
TMEM132E	124842	broad.mit.edu	37	17	32956104	32956104	+	Missense_Mutation	SNP	C	C	T	rs371393529		TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr17:32956104C>T	ENST00000321639.5	+	5	1277	c.949C>T	c.(949-951)Cgg>Tgg	p.R317W		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	317						integral component of membrane (GO:0016021)		p.R317W(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GTCAGTCAAGCGGAGGATCAT	0.612																																						uc002hif.2																			1	Substitution - Missense(1)		cervix(1)	central_nervous_system(1)	1						c.(949-951)CGG>TGG		transmembrane protein 132E precursor			TRP/ARG	0,4406		0,0,2203	100.0	93.0	95.0		949	3.5	1.0	17		95	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMEM132E	NM_207313.1	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	317/985	32956104	1,13005	2203	4300	6503	SO:0001583	missense	124842					integral to membrane		g.chr17:32956104C>T	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.949C>T	17.37:g.32956104C>T	ENSP00000316532:p.Arg317Trp						p.R317W	NM_207313	NP_997196	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	5	1277	+			317			Extracellular (Potential).		Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	c.949C>T	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	c	13.27	2.187608	0.38609	0.0	1.16E-4	ENSG00000181291	ENST00000321639	T	0.19532	2.14	4.51	3.53	0.40419	.	0.000000	0.85682	D	0.000000	T	0.42223	0.1193	M	0.65975	2.015	0.51233	D	0.999917	D	0.89917	1.0	D	0.91635	0.999	T	0.35943	-0.9768	10	0.72032	D	0.01	-29.8251	11.4588	0.50197	0.3265:0.6735:0.0:0.0	.	317	Q6IEE7	T132E_HUMAN	W	317	ENSP00000316532:R317W	ENSP00000316532:R317W	R	+	1	2	TMEM132E	29980217	0.995000	0.38212	0.984000	0.44739	0.044000	0.14063	1.296000	0.33389	1.236000	0.43740	0.447000	0.29281	CGG		0.612	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313	
SPATA32	124783	broad.mit.edu	37	17	43333267	43333267	+	Silent	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr17:43333267G>A	ENST00000331780.4	-	4	377	c.282C>T	c.(280-282)aaC>aaT	p.N94N	MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|SPATA32_ENST00000543122.1_Silent_p.N73N|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA	NM_152343.2	NP_689556.2	Q96LK8	SPT32_HUMAN	spermatogenesis associated 32	94					spermatogenesis (GO:0007283)	perinuclear region of cytoplasm (GO:0048471)											CAGACTCCTCGTTCGAGTTGG	0.562																																						uc002iis.1																			0				large_intestine(1)|ovary(1)	2						c.(280-282)AAC>AAT		hypothetical protein LOC124783							123.0	113.0	117.0					17																	43333267		2203	4300	6503	SO:0001819	synonymous_variant	124783							g.chr17:43333267G>A	AK058143	CCDS32669.1	17q21.31	2013-10-11	2012-10-08	2012-10-08	ENSG00000184361	ENSG00000184361			26349	protein-coding gene	gene with protein product	"""acrosome expressed 2"""		"""chromosome 17 open reading frame 46"", ""testis expressed 34"""	C17orf46, TEX34		18621766	Standard	NM_152343		Approved	FLJ25414, AEP2, VAD1.2	uc002iis.1	Q96LK8	OTTHUMG00000180363	ENST00000331780.4:c.282C>T	17.37:g.43333267G>A						LOC100133991_uc010dah.2_Intron|C17orf46_uc010wjk.1_Silent_p.N73N	p.N94N	NM_152343	NP_689556	Q96LK8	CQ046_HUMAN			4	378	-			94					Q7Z4U1|Q8N6V6	Silent	SNP	ENST00000331780.4	37	c.282C>T	CCDS32669.1																																																																																				0.562	SPATA32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450946.1	NM_152343	
LRRC37A3	374819	broad.mit.edu	37	17	62893283	62893283	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr17:62893283C>G	ENST00000584306.1	-	3	623	c.93G>C	c.(91-93)tgG>tgC	p.W31C	LRRC37A3_ENST00000577487.1_5'Flank|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.W31C|RP11-927P21.2_ENST00000581622.1_RNA|LRRC37A3_ENST00000339474.5_Intron|RP11-927P21.1_ENST00000584131.1_RNA|RP11-927P21.1_ENST00000577938.1_RNA|RP11-927P21.1_ENST00000584959.1_RNA|LRRC37A3_ENST00000400877.3_Intron	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	31						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TGACTAGTAGCCACAATAGTT	0.622																																						uc002jey.2																			0					0						c.(91-93)TGG>TGC		leucine rich repeat containing 37, member A3							31.0	67.0	55.0					17																	62893283		2143	4295	6438	SO:0001583	missense	374819					integral to membrane		g.chr17:62893283C>G	AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.93G>C	17.37:g.62893283C>G	ENSP00000464535:p.Trp31Cys					LRRC37A3_uc010wqg.1_Intron|LRRC37A3_uc010wqf.1_Intron	p.W31C	NM_199340	NP_955372	O60309	L37A3_HUMAN			3	624	-			31					Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	ENST00000584306.1	37	c.93G>C	CCDS32708.1	.	.	.	.	.	.	.	.	.	.	.	10.18	1.279895	0.23392	.	.	ENSG00000176809	ENST00000319651	T	0.65732	-0.17	2.16	1.17	0.20885	.	.	.	.	.	T	0.50120	0.1597	L	0.48642	1.525	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.39643	-0.9604	9	0.38643	T	0.18	.	6.3176	0.21199	0.2895:0.7105:0.0:0.0	.	31	O60309	L37A3_HUMAN	C	31	ENSP00000325713:W31C	ENSP00000325713:W31C	W	-	3	0	LRRC37A3	60323745	0.026000	0.19158	0.012000	0.15200	0.007000	0.05969	1.106000	0.31098	0.475000	0.27415	-1.347000	0.01240	TGG		0.622	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445377.1	NM_199340	
ZNF532	55205	broad.mit.edu	37	18	56587257	56587257	+	Missense_Mutation	SNP	G	G	A	rs372233148		TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr18:56587257G>A	ENST00000336078.4	+	4	2514	c.1738G>A	c.(1738-1740)Gtg>Atg	p.V580M	ZNF532_ENST00000591083.1_Missense_Mutation_p.V580M|ZNF532_ENST00000591230.1_Missense_Mutation_p.V580M|ZNF532_ENST00000591808.1_Missense_Mutation_p.V580M|ZNF532_ENST00000589288.1_Missense_Mutation_p.V580M	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	580					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						GCAGAGTTCTGTGGTGGAAGC	0.522																																						uc002lho.2																			0				breast(1)|skin(1)	2						c.(1738-1740)GTG>ATG		zinc finger protein 532		G	MET/VAL	1,4405		0,1,2202	31.0	30.0	31.0		1738	5.8	1.0	18		31	0,8594		0,0,4297	no	missense	ZNF532	NM_018181.4	21	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	580/1302	56587257	1,12999	2203	4297	6500	SO:0001583	missense	55205				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:56587257G>A	AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.1738G>A	18.37:g.56587257G>A	ENSP00000338217:p.Val580Met					ZNF532_uc002lhp.2_Missense_Mutation_p.V578M|ZNF532_uc010xeg.1_Missense_Mutation_p.V578M|ZNF532_uc002lhr.2_Missense_Mutation_p.V578M|ZNF532_uc002lhs.2_Missense_Mutation_p.V578M	p.V580M	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN			4	2285	+			580					Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Missense_Mutation	SNP	ENST00000336078.4	37	c.1738G>A	CCDS11969.1	.	.	.	.	.	.	.	.	.	.	-	21.1	4.098503	0.76870	2.27E-4	0.0	ENSG00000074657	ENST00000336078	T	0.01767	4.65	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.08891	0.0220	L	0.51422	1.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.02661	-1.1127	10	0.56958	D	0.05	-11.6481	19.6535	0.95827	0.0:0.0:1.0:0.0	.	580	Q9HCE3	ZN532_HUMAN	M	580	ENSP00000338217:V580M	ENSP00000338217:V580M	V	+	1	0	ZNF532	54738237	1.000000	0.71417	0.994000	0.49952	0.989000	0.77384	9.757000	0.98924	2.748000	0.94277	0.550000	0.68814	GTG		0.522	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181	
ZNF236	7776	broad.mit.edu	37	18	74680222	74680222	+	Missense_Mutation	SNP	G	G	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr18:74680222G>T	ENST00000253159.8	+	31	5663	c.5465G>T	c.(5464-5466)aGc>aTc	p.S1822I	ZNF236_ENST00000320610.9_Missense_Mutation_p.S1824I	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1822					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GAGGAGCTGAGCCGGACCCTC	0.602																																						uc002lmi.2																			0				ovary(4)	4						c.(5464-5466)AGC>ATC		zinc finger protein 236							69.0	80.0	76.0					18																	74680222		2006	4191	6197	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74680222G>T	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.5465G>T	18.37:g.74680222G>T	ENSP00000253159:p.Ser1822Ile					ZNF236_uc002lmj.2_RNA	p.S1822I	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	31	5663	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	1822					B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.5465G>T	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	G	9.734	1.163044	0.21538	.	.	ENSG00000130856	ENST00000253159	T	0.11169	2.8	3.62	1.17	0.20885	.	0.543992	0.16721	U	0.202249	T	0.06508	0.0167	N	0.24115	0.695	0.18873	N	0.999983	B	0.28512	0.214	B	0.25884	0.064	T	0.30416	-0.9979	10	0.62326	D	0.03	.	6.0219	0.19634	0.2054:0.1744:0.6202:0.0	.	1822	Q9UL36	ZN236_HUMAN	I	1822	ENSP00000253159:S1822I	ENSP00000253159:S1822I	S	+	2	0	ZNF236	72809210	1.000000	0.71417	0.935000	0.37517	0.953000	0.61014	3.039000	0.49791	0.625000	0.30304	0.557000	0.71058	AGC		0.602	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1		
ACTL9	284382	broad.mit.edu	37	19	8808430	8808430	+	Missense_Mutation	SNP	C	C	T	rs139329295		TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr19:8808430C>T	ENST00000324436.3	-	1	742	c.622G>A	c.(622-624)Gtc>Atc	p.V208I		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	208						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CCCTGGAAGACGGGCACTGTG	0.667																																						uc002mkl.2																			0				large_intestine(2)|pancreas(1)	3						c.(622-624)GTC>ATC		actin-like 9							49.0	46.0	47.0					19																	8808430		2203	4300	6503	SO:0001583	missense	284382					cytoplasm|cytoskeleton		g.chr19:8808430C>T		CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.622G>A	19.37:g.8808430C>T	ENSP00000316674:p.Val208Ile						p.V208I	NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN			1	743	-			208					A8K893|Q6X960	Missense_Mutation	SNP	ENST00000324436.3	37	c.622G>A	CCDS12207.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.253424	0.22965	.	.	ENSG00000181786	ENST00000324436	D	0.95622	-3.76	4.34	4.34	0.51931	.	0.000000	0.41500	D	0.000878	D	0.87281	0.6138	L	0.28192	0.835	0.30637	N	0.756871	P	0.39131	0.661	B	0.32762	0.152	T	0.83212	-0.0073	10	0.02654	T	1	.	9.7105	0.40243	0.0:0.9027:0.0:0.0973	.	208	Q8TC94	ACTL9_HUMAN	I	208	ENSP00000316674:V208I	ENSP00000316674:V208I	V	-	1	0	ACTL9	8669430	0.788000	0.28762	0.972000	0.41901	0.959000	0.62525	1.294000	0.33365	2.420000	0.82092	0.462000	0.41574	GTC		0.667	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	NM_178525	
PVR	5817	broad.mit.edu	37	19	45153152	45153152	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr19:45153152G>A	ENST00000425690.3	+	3	798	c.499G>A	c.(499-501)Gtc>Atc	p.V167I	PVR_ENST00000403059.4_Missense_Mutation_p.V167I|PVR_ENST00000344956.4_Missense_Mutation_p.V167I|CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000406449.4_Missense_Mutation_p.V167I	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	167	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|receptor activity (GO:0004872)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		GGCCCGCTGCGTCTCCACAGG	0.617																																						uc002ozm.2																			0					0						c.(499-501)GTC>ATC		poliovirus receptor isoform alpha							73.0	78.0	76.0					19																	45153152		2203	4300	6503	SO:0001583	missense	5817				adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity	g.chr19:45153152G>A	BC015542	CCDS12640.1, CCDS46105.1, CCDS46106.1, CCDS46107.1	19q13.2	2013-01-29			ENSG00000073008	ENSG00000073008		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9705	protein-coding gene	gene with protein product	"""nectin-like 5"""	173850		PVS		2170108	Standard	XM_005259120		Approved	CD155, HVED, Necl-5, NECL5, Tage4	uc002ozm.3	P15151	OTTHUMG00000151527	ENST00000425690.3:c.499G>A	19.37:g.45153152G>A	ENSP00000402060:p.Val167Ile					PVR_uc010ejs.2_Missense_Mutation_p.V167I|PVR_uc010xxb.1_Missense_Mutation_p.V167I|PVR_uc010xxc.1_Missense_Mutation_p.V167I|PVR_uc002ozn.2_Missense_Mutation_p.V112I	p.V167I	NM_006505	NP_006496	P15151	PVR_HUMAN		Epithelial(262;0.000601)	3	798	+	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)	167			Extracellular (Potential).|Ig-like C2-type 1.		B4DTS9|P15152|Q15267|Q15268|Q96BJ1	Missense_Mutation	SNP	ENST00000425690.3	37	c.499G>A	CCDS12640.1	.	.	.	.	.	.	.	.	.	.	G	8.050	0.765823	0.15983	.	.	ENSG00000073008	ENST00000344956;ENST00000425690;ENST00000406449;ENST00000403059	T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05	4.54	-0.0787	0.13714	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.352640	0.05220	N	0.508444	T	0.63379	0.2506	L	0.28014	0.82	0.09310	N	1	B;B;B;B	0.31968	0.178;0.349;0.032;0.04	B;B;B;B	0.32289	0.052;0.143;0.06;0.068	T	0.45571	-0.9252	10	0.15066	T	0.55	.	7.0295	0.24958	0.395:0.0:0.605:0.0	.	167;167;167;167	P15151-2;P15151-3;P15151-4;P15151	.;.;.;PVR_HUMAN	I	167	ENSP00000340870:V167I;ENSP00000402060:V167I;ENSP00000383907:V167I;ENSP00000385344:V167I	ENSP00000340870:V167I	V	+	1	0	PVR	49844992	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-1.000000	0.03693	-0.180000	0.10637	-1.169000	0.01745	GTC		0.617	PVR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323017.2	NM_006505	
NTF4	4909	broad.mit.edu	37	19	49564639	49564639	+	Missense_Mutation	SNP	G	G	A	rs121918427		TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr19:49564639G>A	ENST00000593537.1	-	1	615	c.616C>T	c.(616-618)Cgg>Tgg	p.R206W	CTB-60B18.12_ENST00000597865.1_RNA|CTB-60B18.18_ENST00000599209.1_lincRNA|NTF4_ENST00000451356.2_Intron|NTF4_ENST00000594938.1_5'Flank|NTF4_ENST00000301411.3_Missense_Mutation_p.R206W|CGB7_ENST00000597853.1_5'Flank|CGB7_ENST00000356213.4_5'Flank			P34130	NTF4_HUMAN	neurotrophin 4	206			R -> Q (in a patient with primary open- angle glaucoma; uncertain pathological significance). {ECO:0000269|PubMed:19765683}.|R -> W (in patients with primary open- angle glaucoma and normal pressure glaucoma; uncertain pathological significance; impaired ligand-mediated TRKB signaling and reduced neurite outgrowth). {ECO:0000269|PubMed:19765683, ECO:0000269|PubMed:20215012}.		adult locomotory behavior (GO:0008344)|epidermis development (GO:0008544)|ganglion mother cell fate determination (GO:0007402)|innervation (GO:0060384)|long-term memory (GO:0007616)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell death (GO:0060548)|sensory organ boundary specification (GO:0008052)|taste bud development (GO:0061193)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	growth factor activity (GO:0008083)			kidney(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		CGGCCAGTCCGGCTGAGGAGT	0.602																																						uc002pmf.3																			0					0						c.(616-618)CGG>TGG		neurotrophin 5 preproprotein		G	TRP/ARG	1,4405		0,1,2202	29.0	29.0	29.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	616	0.9	1.0	19	dbSNP_133	29	8,8590		0,8,4291	yes	missense	NTF4	NM_006179.4	101	0,9,6493	AA,AG,GG		0.093,0.0227,0.0692	probably-damaging	206/211	49564639	9,12995	2203	4299	6502	SO:0001583	missense	4909				adult locomotory behavior|epidermis development|ganglion mother cell fate determination|long-term memory|sensory organ boundary specification	endoplasmic reticulum lumen|extracellular region	growth factor activity	g.chr19:49564639G>A		CCDS12754.1	19q13.3	2014-01-30	2008-01-31	2008-01-31		ENSG00000225950		"""Endogenous ligands"""	8024	protein-coding gene	gene with protein product	"""neurotrophic factor 4"""	162662	"""neurotrophin 5 (neurotrophin 4/5)"""	NTF5		1496419	Standard	NM_006179		Approved	NT-4/5, GLC1O	uc010yah.1	P34130		ENST00000593537.1:c.616C>T	19.37:g.49564639G>A	ENSP00000469455:p.Arg206Trp					CGB7_uc010yah.1_Intron	p.R206W	NM_006179	NP_006170	P34130	NTF4_HUMAN		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	2	757	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	206		R -> Q (in a patient with primary open- angle glaucoma; uncertain pathological significance).|R -> W (in patients with primary open- angle glaucoma and normal pressure glaucoma; uncertain pathological significance; impaired ligand-mediated TRKB signaling and reduced neurite outgrowth).			Q6FH56	Missense_Mutation	SNP	ENST00000593537.1	37	c.616C>T	CCDS12754.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.745831	0.49151	2.27E-4	9.3E-4	ENSG00000167744	ENST00000301411	T	0.72394	-0.65	3.27	0.937	0.19494	Nerve growth factor-related (3);	0.205916	0.25894	N	0.027601	T	0.75302	0.3831	L	0.48642	1.525	0.46542	D	0.999096	D	0.89917	1.0	D	0.66716	0.946	T	0.75045	-0.3456	10	0.87932	D	0	-22.7245	10.6938	0.45886	0.0:0.0:0.6552:0.3448	.	206	P34130	NTF4_HUMAN	W	206	ENSP00000301411:R206W	ENSP00000301411:R206W	R	-	1	2	NTF4	54256451	0.998000	0.40836	0.999000	0.59377	0.656000	0.38851	1.819000	0.39022	0.347000	0.23924	0.313000	0.20887	CGG		0.602	NTF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466258.1	NM_006179	
ZNF813	126017	broad.mit.edu	37	19	53994271	53994271	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr19:53994271G>A	ENST00000396403.4	+	4	913	c.785G>A	c.(784-786)cGt>cAt	p.R262H	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	262					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		GTGTGCCATCGTAGATGTCAC	0.413																																						uc002qbu.2																			0				large_intestine(1)	1						c.(784-786)CGT>CAT		zinc finger protein 813							76.0	78.0	77.0					19																	53994271		2201	4298	6499	SO:0001583	missense	126017				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53994271G>A	AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"""Zinc fingers, C2H2-type"", ""-"""	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.785G>A	19.37:g.53994271G>A	ENSP00000379684:p.Arg262His					ZNF813_uc010eqq.1_Intron	p.R262H	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN		GBM - Glioblastoma multiforme(134;0.00619)	4	913	+			262			C2H2-type 2.			Missense_Mutation	SNP	ENST00000396403.4	37	c.785G>A	CCDS46172.1	.	.	.	.	.	.	.	.	.	.	g	4.514	0.095433	0.08681	.	.	ENSG00000198346	ENST00000396403	T	0.18502	2.21	1.15	-0.235	0.13071	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14141	0.0342	L	0.54965	1.715	0.09310	N	1	B	0.20550	0.046	B	0.20767	0.031	T	0.30446	-0.9978	9	0.33141	T	0.24	.	4.6454	0.12570	0.5178:0.0:0.4822:0.0	.	262	Q6ZN06	ZN813_HUMAN	H	262	ENSP00000379684:R262H	ENSP00000379684:R262H	R	+	2	0	ZNF813	58686083	0.000000	0.05858	0.074000	0.20217	0.098000	0.18820	-0.505000	0.06367	0.194000	0.20326	0.197000	0.17608	CGT		0.413	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350638.1	NM_001004301	
SNTG2	54221	broad.mit.edu	37	2	1168837	1168837	+	Missense_Mutation	SNP	G	G	A	rs567910526		TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr2:1168837G>A	ENST00000308624.5	+	8	688	c.559G>A	c.(559-561)Ggt>Agt	p.G187S	SNTG2_ENST00000467759.1_3'UTR|SNTG2_ENST00000407292.1_Intron	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	187					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)	p.G187S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CTTTGACAGCGGTTTGCATCT	0.468													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18832	0.0		0.0	False		,,,				2504	0.0					uc002qwq.2																			1	Substitution - Missense(1)		large_intestine(1)	ovary(1)|large_intestine(1)|breast(1)	3						c.(559-561)GGT>AGT		syntrophin, gamma 2							160.0	162.0	161.0					2																	1168837		1929	4127	6056	SO:0001583	missense	54221				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	g.chr2:1168837G>A	AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.559G>A	2.37:g.1168837G>A	ENSP00000311837:p.Gly187Ser					SNTG2_uc010ewi.2_Intron	p.G187S	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)	8	687	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)	187					Q05AH5	Missense_Mutation	SNP	ENST00000308624.5	37	c.559G>A	CCDS46220.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.673037	0.47781	.	.	ENSG00000172554	ENST00000308624	T	0.38077	1.16	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.42426	0.1202	M	0.62723	1.935	0.80722	D	1	D	0.62365	0.991	P	0.48488	0.579	T	0.29488	-1.0010	10	0.19590	T	0.45	.	15.4969	0.75662	0.0:0.0:1.0:0.0	.	187	Q9NY99	SNTG2_HUMAN	S	187	ENSP00000311837:G187S	ENSP00000311837:G187S	G	+	1	0	SNTG2	1158837	1.000000	0.71417	0.650000	0.29550	0.185000	0.23345	6.238000	0.72350	2.151000	0.67156	0.643000	0.83706	GGT		0.468	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	NM_018968	
ABCG5	64240	broad.mit.edu	37	2	44051252	44051252	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr2:44051252A>G	ENST00000260645.1	-	9	1263	c.1124T>C	c.(1123-1125)gTg>gCg	p.V375A	ABCG5_ENST00000405322.1_Missense_Mutation_p.V204A|ABCG5_ENST00000543989.1_5'UTR	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	375					ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	GTTTCTTGTCACTCTCCTGAA	0.433																																						uc002rtn.2																			0				ovary(1)|skin(1)	2						c.(1123-1125)GTG>GCG		ATP-binding cassette sub-family G member 5							63.0	68.0	67.0					2																	44051252		2203	4300	6503	SO:0001583	missense	64240				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44051252A>G	T93792	CCDS1814.1	2p21	2012-03-14	2008-07-31		ENSG00000138075	ENSG00000138075		"""ATP binding cassette transporters / subfamily G"""	13886	protein-coding gene	gene with protein product	"""sterolin 1"""	605459				11099417, 11452359	Standard	NM_022436		Approved	STSL	uc002rtn.3	Q9H222	OTTHUMG00000128758	ENST00000260645.1:c.1124T>C	2.37:g.44051252A>G	ENSP00000260645:p.Val375Ala					ABCG5_uc002rtm.2_5'UTR|ABCG5_uc002rto.2_Missense_Mutation_p.V204A|ABCG5_uc002rtp.2_5'UTR	p.V375A	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN			9	1264	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	375			Cytoplasmic (Potential).		Q2T9G2|Q96QZ2|Q96QZ3	Missense_Mutation	SNP	ENST00000260645.1	37	c.1124T>C	CCDS1814.1	.	.	.	.	.	.	.	.	.	.	a	13.71	2.317718	0.40996	.	.	ENSG00000138075	ENST00000260645;ENST00000405322	T;T	0.71341	-0.56;-0.56	5.9	5.9	0.94986	ABC-2 type transporter (1);	0.960822	0.08619	N	0.918707	T	0.56572	0.1994	N	0.16790	0.44	0.80722	D	1	B;P	0.42456	0.253;0.78	B;B	0.40602	0.159;0.334	T	0.44967	-0.9293	10	0.31617	T	0.26	.	8.3938	0.32544	0.8543:0.0:0.1457:0.0	.	204;375	E7EX35;Q9H222	.;ABCG5_HUMAN	A	375;204	ENSP00000260645:V375A;ENSP00000384513:V204A	ENSP00000260645:V375A	V	-	2	0	ABCG5	43904756	0.998000	0.40836	0.996000	0.52242	0.992000	0.81027	3.175000	0.50855	2.252000	0.74401	0.529000	0.55759	GTG		0.433	ABCG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250675.1	NM_022436	
PPP1R21	129285	broad.mit.edu	37	2	48692078	48692078	+	Missense_Mutation	SNP	T	T	G			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr2:48692078T>G	ENST00000294952.8	+	8	854	c.697T>G	c.(697-699)Tat>Gat	p.Y233D	PPP1R21_ENST00000281394.4_Missense_Mutation_p.Y233D|PPP1R21_ENST00000449090.2_Missense_Mutation_p.Y233D	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	233						membrane (GO:0016020)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(4)|lung(9)	15						TTCTGTAGAATATAGTCAGTA	0.318																																						uc002rwm.2																			0				ovary(1)	1						c.(697-699)TAT>GAT		KLRAQ motif containing 1 isoform 1							100.0	100.0	100.0					2																	48692078		2203	4300	6503	SO:0001583	missense	129285							g.chr2:48692078T>G	AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30595	protein-coding gene	gene with protein product			"""coiled-coil domain containing 128"", ""KLRAQ motif containing 1"""	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.697T>G	2.37:g.48692078T>G	ENSP00000294952:p.Tyr233Asp					KLRAQ1_uc002rwi.1_Missense_Mutation_p.Y233D|KLRAQ1_uc002rwj.2_Missense_Mutation_p.Y233D|KLRAQ1_uc002rwl.2_Missense_Mutation_p.Y187D|KLRAQ1_uc002rwk.2_Missense_Mutation_p.Y233D|KLRAQ1_uc010yok.1_Missense_Mutation_p.Y233D	p.Y233D	NM_001135629	NP_001129101	Q6ZMI0	KLRAQ_HUMAN			8	882	+			233					B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Missense_Mutation	SNP	ENST00000294952.8	37	c.697T>G	CCDS46278.1	.	.	.	.	.	.	.	.	.	.	T	13.62	2.291062	0.40494	.	.	ENSG00000162869	ENST00000281394;ENST00000294952;ENST00000449090	.	.	.	5.39	5.39	0.77823	.	0.338156	0.36234	N	0.002713	T	0.23289	0.0563	N	0.14661	0.345	0.30822	N	0.737695	B;B;B;B;B	0.23806	0.049;0.055;0.091;0.039;0.011	B;B;B;B;B	0.18871	0.023;0.009;0.021;0.023;0.014	T	0.17107	-1.0380	9	0.12103	T	0.63	-3.5908	10.8664	0.46858	0.1407:0.0:0.0:0.8593	.	233;233;233;233;233	E1B6W7;Q6ZMI0;Q6ZMI0-2;Q6ZMI0-3;Q6ZMI0-4	.;PPR21_HUMAN;.;.;.	D	233	.	ENSP00000281394:Y233D	Y	+	1	0	KLRAQ1	48545582	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	4.476000	0.60216	2.168000	0.68352	0.528000	0.53228	TAT		0.318	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251238.4	NM_152994	
APLF	200558	broad.mit.edu	37	2	68729870	68729870	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr2:68729870C>G	ENST00000303795.4	+	3	347	c.176C>G	c.(175-177)aCa>aGa	p.T59R		NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	59	FHA-like.				cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of DNA ligation (GO:0051106)|regulation of isotype switching (GO:0045191)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|endodeoxyribonuclease activity (GO:0004520)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						TAGATACACACAAATCCATGT	0.264																																						uc002sep.2																			0				ovary(2)	2						c.(175-177)ACA>AGA		aprataxin and PNKP like factor							59.0	59.0	59.0					2																	68729870		2203	4298	6501	SO:0001583	missense	200558				double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding	g.chr2:68729870C>G	BC030711	CCDS1888.1	2p14	2014-02-20	2008-10-01	2008-10-01	ENSG00000169621	ENSG00000169621			28724	protein-coding gene	gene with protein product	"""XRCC1-interacting protein 1"", ""zinc finger, CX5CX6HX5H motif containing 1"""	611035	"""chromosome 2 open reading frame 13"""	C2orf13		18474613, 18077224, 17353262	Standard	NM_173545		Approved	MGC47799, Xip1, ZCCHH1	uc002sep.3	Q8IW19	OTTHUMG00000129566	ENST00000303795.4:c.176C>G	2.37:g.68729870C>G	ENSP00000307004:p.Thr59Arg					APLF_uc010fdf.2_Missense_Mutation_p.T35R	p.T59R	NM_173545	NP_775816	Q8IW19	APLF_HUMAN			3	349	+			59			FHA-like.		A8K476|Q53P47|Q53PB9|Q53QU0	Missense_Mutation	SNP	ENST00000303795.4	37	c.176C>G	CCDS1888.1	.	.	.	.	.	.	.	.	.	.	c	8.804	0.933522	0.18206	.	.	ENSG00000169621	ENST00000303795	T	0.22743	1.94	5.21	-0.169	0.13339	Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	0.615207	0.17032	N	0.189672	T	0.10165	0.0249	L	0.28274	0.84	0.22156	N	0.999327	B;B	0.15141	0.004;0.012	B;B	0.14578	0.011;0.006	T	0.29852	-0.9998	10	0.16420	T	0.52	.	3.4454	0.07478	0.157:0.2623:0.4605:0.1202	.	59;59	F8WET0;Q8IW19	.;APLF_HUMAN	R	59	ENSP00000307004:T59R	ENSP00000307004:T59R	T	+	2	0	APLF	68583374	0.989000	0.36119	0.990000	0.47175	0.738000	0.42128	0.196000	0.17176	0.263000	0.21812	0.650000	0.86243	ACA		0.264	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251759.1	NM_173545	
ALPPL2	251	broad.mit.edu	37	2	233274393	233274393	+	Silent	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr2:233274393C>T	ENST00000295453.3	+	11	1462	c.1410C>T	c.(1408-1410)ggC>ggT	p.G470G		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	470					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	TGGTTCACGGCGTGCAGGAGC	0.716																																						uc002vss.3																			0				skin(1)	1						c.(1408-1410)GGC>GGT		placental-like alkaline phosphatase	Amifostine(DB01143)|Levamisole(DB00848)						16.0	19.0	18.0					2																	233274393		2190	4280	6470	SO:0001819	synonymous_variant	251				phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233274393C>T	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.1410C>T	2.37:g.233274393C>T							p.G470G	NM_031313	NP_112603	P10696	PPBN_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	11	1463	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	470					A8KAF2|Q16727|Q53S81|Q96CM1	Silent	SNP	ENST00000295453.3	37	c.1410C>T	CCDS2491.1																																																																																				0.716	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313	
ZNF335	63925	broad.mit.edu	37	20	44587938	44587938	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr20:44587938G>A	ENST00000322927.2	-	15	2255	c.2155C>T	c.(2155-2157)Cgc>Tgc	p.R719C	ZNF335_ENST00000426788.1_Missense_Mutation_p.R564C	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	719					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)	p.R719C(2)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GGGCGACGGCGGGAGGGGGGC	0.657																																						uc002xqw.2																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(1)	4						c.(2155-2157)CGC>TGC		zinc finger protein 335							33.0	37.0	36.0					20																	44587938		2202	4300	6502	SO:0001583	missense	63925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:44587938G>A	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.2155C>T	20.37:g.44587938G>A	ENSP00000325326:p.Arg719Cys					ZNF335_uc010zxk.1_Missense_Mutation_p.R564C	p.R719C	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN			15	2278	-		Myeloproliferative disorder(115;0.0122)	719					B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	ENST00000322927.2	37	c.2155C>T	CCDS13389.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.561478	0.86335	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	T;T	0.11063	2.94;2.81	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.28234	0.0697	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.00609	-1.1646	10	0.66056	D	0.02	-32.1644	17.5159	0.87773	0.0:0.0:1.0:0.0	.	564;719	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	C	719;496;564	ENSP00000325326:R719C;ENSP00000397098:R564C	ENSP00000243961:R496C	R	-	1	0	ZNF335	44021345	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.631000	0.67812	2.607000	0.88179	0.561000	0.74099	CGC		0.657	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095	
UCKL1	54963	broad.mit.edu	37	20	62571758	62571758	+	Silent	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr20:62571758C>T	ENST00000354216.6	-	13	1425	c.1383G>A	c.(1381-1383)gcG>gcA	p.A461A	MIR1914_ENST00000607800.1_RNA|UCKL1_ENST00000358711.3_3'UTR|MIR647_ENST00000384823.1_RNA|UCKL1_ENST00000369908.5_Silent_p.A446A|UCKL1_ENST00000369892.3_Silent_p.A461A	NM_017859.3	NP_060329.2	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	461					CTP salvage (GO:0044211)|UMP salvage (GO:0044206)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|uridine kinase activity (GO:0004849)			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CCATCATGGCCGCCGCGCCCG	0.642																																						uc010gkn.2																			0					0						c.(1381-1383)GCG>GCA		uridine-cytidine kinase 1-like 1							52.0	48.0	50.0					20																	62571758		2196	4296	6492	SO:0001819	synonymous_variant	54963				interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity	g.chr20:62571758C>T	AK000524	CCDS13547.1, CCDS54479.1	20q13.33	2012-09-20	2004-07-13	2004-07-13	ENSG00000198276	ENSG00000198276			15938	protein-coding gene	gene with protein product		610866	"""uridine kinase-like 1"""	URKL1			Standard	NM_017859		Approved	FLJ20517	uc010gkn.3	Q9NWZ5	OTTHUMG00000033003	ENST00000354216.6:c.1383G>A	20.37:g.62571758C>T						UCKL1_uc002yhj.2_Silent_p.A104A|UCKL1_uc011abm.1_Silent_p.A446A|UCKL1_uc011abn.1_RNA	p.A461A	NM_017859	NP_060329	Q9NWZ5	UCKL1_HUMAN			13	1426	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		461					B7Z8N2|Q5JWV0|Q70AQ5|Q8N524|Q9H3Z2	Silent	SNP	ENST00000354216.6	37	c.1383G>A	CCDS13547.1																																																																																				0.642	UCKL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080236.1	NM_017859	
TPTE	7179	broad.mit.edu	37	21	10942995	10942995	+	Nonsense_Mutation	SNP	G	G	A	rs147014138	byFrequency	TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr21:10942995G>A	ENST00000361285.4	-	12	921	c.592C>T	c.(592-594)Cga>Tga	p.R198*	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Nonsense_Mutation_p.R160*|TPTE_ENST00000298232.7_Nonsense_Mutation_p.R180*	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	198					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATAATAAGTCGTAGAAGTCGA	0.313																																						uc002yip.1																			0				ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(592-594)CGA>TGA		transmembrane phosphatase with tensin homology		G	stop/ARG,stop/ARG,stop/ARG	9,4397		0,9,2194	75.0	70.0	72.0		538,478,592	1.1	0.1	21	dbSNP_134	72	30,8568		0,30,4269	no	stop-gained,stop-gained,stop-gained	TPTE	NM_199259.2,NM_199260.2,NM_199261.2	,,	0,39,6463	AA,AG,GG		0.3489,0.2043,0.2999	,,	180/534,160/514,198/552	10942995	39,12965	2203	4299	6502	SO:0001587	stop_gained	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10942995G>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.592C>T	21.37:g.10942995G>A	ENSP00000355208:p.Arg198*					TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Nonsense_Mutation_p.R180*|TPTE_uc002yir.1_Nonsense_Mutation_p.R160*|TPTE_uc010gkv.1_Nonsense_Mutation_p.R60*	p.R198*	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	12	960	-			198					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Nonsense_Mutation	SNP	ENST00000361285.4	37	c.592C>T	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	21.5	4.154027	0.78114	0.002043	0.003489	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	.	.	.	2.07	1.12	0.20585	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.2096	6.3971	0.21618	0.0:0.0:0.474:0.526	.	.	.	.	X	180;198;160	.	ENSP00000298232:R180X	R	-	1	2	TPTE	9964866	1.000000	0.71417	0.131000	0.22000	0.054000	0.15201	2.258000	0.43249	0.397000	0.25310	0.194000	0.17425	CGA		0.313	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1		
KLHL22	84861	broad.mit.edu	37	22	20819524	20819524	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr22:20819524G>A	ENST00000328879.4	-	4	889	c.733C>T	c.(733-735)Cgg>Tgg	p.R245W	KLHL22_ENST00000440659.2_Missense_Mutation_p.R102W	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	245					cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513)	centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			AGCGGAAACCGCACTGTCTCA	0.607																																						uc002zsl.1																			0				lung(1)	1						c.(733-735)CGG>TGG		kelch-like							35.0	32.0	33.0					22																	20819524		2203	4300	6503	SO:0001583	missense	84861				cell division	Cul3-RING ubiquitin ligase complex		g.chr22:20819524G>A		CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910		"""Kelch-like"", ""BTB/POZ domain containing"""	25888	protein-coding gene	gene with protein product			"""kelch-like 22 (Drosophila)"""			12477932	Standard	NM_032775		Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.733C>T	22.37:g.20819524G>A	ENSP00000331682:p.Arg245Trp					KLHL22_uc011ahr.1_Missense_Mutation_p.R102W|KLHL22_uc002zsm.1_Missense_Mutation_p.R245W	p.R245W	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		4	842	-	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	245					A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Missense_Mutation	SNP	ENST00000328879.4	37	c.733C>T	CCDS13780.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.711758	0.89112	.	.	ENSG00000099910	ENST00000328879;ENST00000440659;ENST00000451553;ENST00000444967	T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45	5.32	5.32	0.75619	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.91476	0.7309	M	0.89534	3.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.93083	0.6493	10	0.87932	D	0	.	16.477	0.84135	0.0:0.0:1.0:0.0	.	102;245	B7Z2G1;Q53GT1	.;KLH22_HUMAN	W	245;102;168;277	ENSP00000331682:R245W;ENSP00000405521:R102W;ENSP00000400095:R168W;ENSP00000403999:R277W	ENSP00000331682:R245W	R	-	1	2	KLHL22	19149524	1.000000	0.71417	0.992000	0.48379	0.999000	0.98932	9.085000	0.94083	2.483000	0.83821	0.655000	0.94253	CGG		0.607	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320045.2	NM_032775	
RFPL2	10739	broad.mit.edu	37	22	32586994	32586994	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr22:32586994C>T	ENST00000400237.1	-	5	1837	c.902G>A	c.(901-903)cGc>cAc	p.R301H	RFPL2_ENST00000400236.3_Missense_Mutation_p.R211H|RFPL2_ENST00000248980.4_Missense_Mutation_p.R240H|RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000248983.4_Missense_Mutation_p.R211H			O75678	RFPL2_HUMAN	ret finger protein-like 2	301	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						CTGTAACTTGCGGTCTACGAA	0.512																																						uc003amg.3																			0				skin(1)	1						c.(901-903)CGC>CAC		ret finger protein-like 2 isoform 2							41.0	61.0	54.0					22																	32586994		2202	4294	6496	SO:0001583	missense	10739						zinc ion binding	g.chr22:32586994C>T	AJ010231	CCDS43009.1, CCDS46694.1, CCDS43009.2	22q12.3	2008-06-12				ENSG00000128253		"""RING-type (C3HC4) zinc fingers"""	9979	protein-coding gene	gene with protein product		605969				10508838	Standard	NM_001098527		Approved	RNF79	uc003amg.3	O75678		ENST00000400237.1:c.902G>A	22.37:g.32586994C>T	ENSP00000383096:p.Arg301His					RFPL2_uc003ame.3_Missense_Mutation_p.R240H|RFPL2_uc003amf.3_Missense_Mutation_p.R211H|RFPL2_uc003amh.3_Missense_Mutation_p.R211H	p.R301H	NM_001098527	NP_001091997	O75678	RFPL2_HUMAN			5	1838	-			301			B30.2/SPRY.			Missense_Mutation	SNP	ENST00000400237.1	37	c.902G>A	CCDS43009.2	.	.	.	.	.	.	.	.	.	.	C	5.006	0.186849	0.09547	.	.	ENSG00000128253	ENST00000248980;ENST00000248983;ENST00000400236;ENST00000400237	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	0.351	-0.702	0.11265	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.50701	0.1631	L	0.33710	1.025	0.09310	N	1	B;B	0.15473	0.013;0.0	B;B	0.18561	0.022;0.005	T	0.37056	-0.9722	9	0.54805	T	0.06	.	5.6019	0.17359	0.0:0.6559:0.344:0.0	.	301;240	O75678;O75678-3	RFPL2_HUMAN;.	H	240;211;211;301	ENSP00000248980:R240H;ENSP00000248983:R211H;ENSP00000383095:R211H;ENSP00000383096:R301H	ENSP00000248980:R240H	R	-	2	0	RFPL2	30916994	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-3.805000	0.00362	-0.711000	0.04995	-0.714000	0.03626	CGC		0.512	RFPL2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075262.2	NM_006605	
SETD2	29072	broad.mit.edu	37	3	47098909	47098909	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr3:47098909C>T	ENST00000409792.3	-	15	6407	c.6365G>A	c.(6364-6366)cGg>cAg	p.R2122Q		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2122					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AAACAACTTCCGGCGTTCCTC	0.423			"""N, F, S, Mis"""		clear cell renal carcinoma																																	uc003cqs.2				Rec	yes		3	3p21.31	29072	N|F|S|Mis	SET domain containing 2			E			clear cell renal carcinoma		0				kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32						c.(6364-6366)CGG>CAG		SET domain containing 2							89.0	89.0	89.0					3																	47098909		2203	4300	6503	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47098909C>T	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.6365G>A	3.37:g.47098909C>T	ENSP00000386759:p.Arg2122Gln					SETD2_uc003cqv.2_Missense_Mutation_p.R2189Q|SETD2_uc003cqt.1_RNA	p.R2122Q	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	15	6418	-		Acute lymphoblastic leukemia(5;0.0169)	2122			Potential.		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.6365G>A	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	32	5.150000	0.94645	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	T	0.23950	1.88	4.98	4.98	0.66077	.	0.000000	0.53938	D	0.000043	T	0.49440	0.1557	L	0.59436	1.845	0.51233	D	0.999916	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.48896	-0.8994	10	0.87932	D	0	.	18.7956	0.91993	0.0:1.0:0.0:0.0	.	2122;2122	F2Z317;Q9BYW2	.;SETD2_HUMAN	Q	2122	ENSP00000386759:R2122Q	ENSP00000386759:R2122Q	R	-	2	0	SETD2	47073913	1.000000	0.71417	0.976000	0.42696	0.971000	0.66376	7.250000	0.78287	2.755000	0.94549	0.655000	0.94253	CGG		0.423	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159	
ABHD14A	25864	broad.mit.edu	37	3	52014464	52014464	+	Silent	SNP	G	G	A	rs375269081		TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr3:52014464G>A	ENST00000273596.3	+	4	521	c.453G>A	c.(451-453)gcG>gcA	p.A151A	ABHD14B_ENST00000483233.1_Intron|ACY1_ENST00000476854.1_5'Flank|ABHD14A-ACY1_ENST00000463937.1_Intron|ACY1_ENST00000494103.1_5'Flank|ACY1_ENST00000458031.2_Intron|ABHD14A_ENST00000491470.1_Intron|ACY1_ENST00000476351.1_5'Flank	NM_015407.4	NP_056222.2	Q9BUJ0	ABHEA_HUMAN	abhydrolase domain containing 14A	151						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGCGGGCAGCGCTGCTGGAGC	0.652																																						uc003dco.2																			0					0						c.(451-453)GCG>GCA		abhydrolase domain containing 14A		G		1,4405	2.1+/-5.4	0,1,2202	36.0	41.0	39.0		453	-1.1	0.0	3		39	0,8598		0,0,4299	no	coding-synonymous	ABHD14A	NM_015407.4		0,1,6501	AA,AG,GG		0.0,0.0227,0.0077		151/272	52014464	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	25864					cytoplasm|integral to membrane	hydrolase activity	g.chr3:52014464G>A	AY358201	CCDS2843.1	3p21.1	2011-02-14			ENSG00000248487	ENSG00000248487		"""Abhydrolase domain containing"""	24538	protein-coding gene	gene with protein product							Standard	NM_015407		Approved	DKFZP564O243, DORZ1	uc003dco.3	Q9BUJ0	OTTHUMG00000157818	ENST00000273596.3:c.453G>A	3.37:g.52014464G>A						ABHD14B_uc003dcn.2_Intron|ACY1_uc011bea.1_Intron	p.A151A	NM_015407	NP_056222	Q9BUJ0	ABHEA_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	4	563	+			151					Q6UXU8|Q9Y3T7	Silent	SNP	ENST00000273596.3	37	c.453G>A	CCDS2843.1																																																																																				0.652	ABHD14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349689.1	NM_015407	
CACNA2D3	55799	broad.mit.edu	37	3	55107854	55107854	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr3:55107854C>T	ENST00000474759.1	+	37	3199	c.3151C>T	c.(3151-3153)Cgc>Tgc	p.R1051C	CACNA2D3_ENST00000288197.5_Missense_Mutation_p.R1051C|CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.R957C|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.R1051C	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	1051						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	GATCAGAAGGCGCCCAGAATC	0.448																																						uc003dhf.2																			0				large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7						c.(3151-3153)CGC>TGC		calcium channel, voltage-dependent, alpha							82.0	82.0	82.0					3																	55107854		1907	4124	6031	SO:0001583	missense	55799					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:55107854C>T	AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.3151C>T	3.37:g.55107854C>T	ENSP00000419101:p.Arg1051Cys						p.R1051C	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	37	3199	+			1051			Extracellular (Potential).		B2RPL6|Q9NY16|Q9NY18	Missense_Mutation	SNP	ENST00000474759.1	37	c.3151C>T	CCDS54598.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.807877	0.70797	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624	T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55	5.81	4.94	0.65067	.	0.061993	0.64402	D	0.000004	D	0.83069	0.5174	M	0.80508	2.5	0.53688	D	0.999977	D	0.89917	1.0	D	0.67725	0.953	D	0.85338	0.1094	10	0.72032	D	0.01	.	12.9679	0.58494	0.0:0.9257:0.0:0.0743	.	1051	Q8IZS8	CA2D3_HUMAN	C	1051;1051;1051;957;958	ENSP00000389506:R1051C;ENSP00000419101:R1051C;ENSP00000288197:R1051C;ENSP00000417279:R957C	ENSP00000288197:R1051C	R	+	1	0	CACNA2D3	55082894	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	3.633000	0.54295	1.463000	0.47967	0.637000	0.83480	CGC		0.448	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1		
SENP7	57337	broad.mit.edu	37	3	101136587	101136587	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr3:101136587C>T	ENST00000394095.2	-	5	385	c.332G>A	c.(331-333)cGa>cAa	p.R111Q	SENP7_ENST00000358203.3_Intron|SENP7_ENST00000394091.1_Intron|SENP7_ENST00000348610.3_Missense_Mutation_p.R78Q|SENP7_ENST00000394094.2_Missense_Mutation_p.R111Q|SENP7_ENST00000314261.7_Intron	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	111						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TCTGAATTTTCGTCCTAAATC	0.378																																						uc003dut.2																			0				ovary(3)|lung(2)	5						c.(331-333)CGA>CAA		sentrin/SUMO-specific protease 7 isoform 1							148.0	144.0	145.0					3																	101136587		1892	4110	6002	SO:0001583	missense	57337				proteolysis	nucleus	cysteine-type peptidase activity	g.chr3:101136587C>T		CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.332G>A	3.37:g.101136587C>T	ENSP00000377655:p.Arg111Gln					SENP7_uc003duu.2_Missense_Mutation_p.R111Q|SENP7_uc003duv.2_Missense_Mutation_p.R78Q|SENP7_uc003duw.2_Intron|SENP7_uc003dux.2_Intron	p.R111Q	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN			5	443	-			111					A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	ENST00000394095.2	37	c.332G>A	CCDS2941.2	.	.	.	.	.	.	.	.	.	.	C	31	5.060561	0.93846	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000348610	T;T;T	0.69306	-0.39;-0.39;-0.39	5.52	5.52	0.82312	.	0.000000	0.52532	D	0.000076	T	0.79173	0.4401	L	0.53249	1.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.78214	-0.2291	10	0.49607	T	0.09	-8.2237	17.9847	0.89152	0.0:1.0:0.0:0.0	.	78;111	Q9BQF6-2;Q9BQF6	.;SENP7_HUMAN	Q	111;111;78	ENSP00000377655:R111Q;ENSP00000377654:R111Q;ENSP00000342159:R78Q	ENSP00000342159:R78Q	R	-	2	0	SENP7	102619277	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.178000	0.50879	2.754000	0.94517	0.650000	0.86243	CGA		0.378	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654	
SOWAHB	345079	broad.mit.edu	37	4	77817817	77817817	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr4:77817817C>T	ENST00000334306.2	-	1	1185	c.1186G>A	c.(1186-1188)Gac>Aac	p.D396N		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	396																	TCCACAAAGTCATCCAGATCT	0.572																																						uc003hki.2																			0					0						c.(1186-1188)GAC>AAC		ankyrin repeat domain 56							71.0	76.0	74.0					4																	77817817		2203	4300	6503	SO:0001583	missense	345079							g.chr4:77817817C>T		CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"""Ankyrin repeat domain containing"""	32958	protein-coding gene	gene with protein product			"""ankyrin repeat domain 56"""	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.1186G>A	4.37:g.77817817C>T	ENSP00000334879:p.Asp396Asn						p.D396N	NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN			1	1186	-			396					B2RP29	Missense_Mutation	SNP	ENST00000334306.2	37	c.1186G>A	CCDS34017.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.808167	0.31961	.	.	ENSG00000186212	ENST00000334306	T	0.09073	3.02	4.77	3.84	0.44239	.	0.179466	0.26677	U	0.023066	T	0.04952	0.0133	N	0.17082	0.46	0.30001	N	0.816025	B	0.32829	0.386	B	0.24269	0.052	T	0.17961	-1.0352	10	0.34782	T	0.22	-10.3007	12.0655	0.53586	0.0:0.9022:0.0:0.0978	.	396	A6NEL2	ANR56_HUMAN	N	396	ENSP00000334879:D396N	ENSP00000334879:D396N	D	-	1	0	ANKRD56	78036841	0.973000	0.33851	0.998000	0.56505	0.333000	0.28666	2.337000	0.43947	2.469000	0.83416	0.655000	0.94253	GAC		0.572	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1	NM_001029870	
MMRN1	22915	broad.mit.edu	37	4	90857233	90857233	+	Missense_Mutation	SNP	A	A	C			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr4:90857233A>C	ENST00000394980.1	+	7	2721	c.2402A>C	c.(2401-2403)cAa>cCa	p.Q801P	MMRN1_ENST00000508372.1_Missense_Mutation_p.Q543P|MMRN1_ENST00000264790.2_Missense_Mutation_p.Q801P|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	801					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TTTGTTTTGCAAGTCGCCAAG	0.378																																						uc003hst.2																			0				ovary(4)	4						c.(2401-2403)CAA>CCA		multimerin 1							47.0	48.0	48.0					4																	90857233		2203	4297	6500	SO:0001583	missense	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90857233A>C	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.2402A>C	4.37:g.90857233A>C	ENSP00000378431:p.Gln801Pro					MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Missense_Mutation_p.Q543P	p.Q801P	NM_007351	NP_031377	Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	6	2473	+		Hepatocellular(203;0.114)	801					Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	c.2402A>C	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	A	10.80	1.453890	0.26161	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	T;T;T	0.68903	-0.05;-0.05;-0.36	5.07	5.07	0.68467	.	0.428024	0.24289	N	0.039830	T	0.75087	0.3802	M	0.61703	1.905	0.80722	D	1	D	0.57899	0.981	P	0.55161	0.77	T	0.78018	-0.2368	10	0.62326	D	0.03	.	15.5472	0.76112	1.0:0.0:0.0:0.0	.	801	Q13201	MMRN1_HUMAN	P	801;801;543	ENSP00000378431:Q801P;ENSP00000264790:Q801P;ENSP00000426461:Q543P	ENSP00000264790:Q801P	Q	+	2	0	MMRN1	91076256	1.000000	0.71417	1.000000	0.80357	0.181000	0.23173	5.989000	0.70587	2.212000	0.71576	0.528000	0.53228	CAA		0.378	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351	
PCDHA1	56147	broad.mit.edu	37	5	140167729	140167729	+	Silent	SNP	G	G	A	rs543937372		TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr5:140167729G>A	ENST00000504120.2	+	1	1854	c.1854G>A	c.(1852-1854)gcG>gcA	p.A618A	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Silent_p.A618A	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	618	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGCGGCGCGCGCATCCCGT	0.667																																						uc003lhb.2																			0				skin(1)	1						c.(1852-1854)GCG>GCA		protocadherin alpha 1 isoform 1 precursor							69.0	73.0	72.0					5																	140167729		2203	4299	6502	SO:0001819	synonymous_variant	56147				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140167729G>A	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1854G>A	5.37:g.140167729G>A						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Silent_p.A618A	p.A618A	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1854	+			618			Cadherin 6.|Extracellular (Potential).		O75288|Q9NRT7	Silent	SNP	ENST00000504120.2	37	c.1854G>A	CCDS54913.1																																																																																				0.667	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900	
PCDHB12	56124	broad.mit.edu	37	5	140590288	140590288	+	Silent	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr5:140590288G>A	ENST00000239450.2	+	1	1998	c.1809G>A	c.(1807-1809)tcG>tcA	p.S603S	PCDHB12_ENST00000541609.1_Silent_p.S266S	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	603	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGGCTGTCGTACCAGCTGC	0.721																																						uc003liz.2																			0				skin(2)|ovary(1)	3						c.(1807-1809)TCG>TCA		protocadherin beta 12 precursor							25.0	26.0	26.0					5																	140590288		2157	4207	6364	SO:0001819	synonymous_variant	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140590288G>A	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1809G>A	5.37:g.140590288G>A						PCDHB12_uc011dak.1_Silent_p.S266S	p.S603S	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1998	+			603			Extracellular (Potential).|Cadherin 6.		B4DDU1	Silent	SNP	ENST00000239450.2	37	c.1809G>A	CCDS4254.1																																																																																				0.721	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932	
PCDHGA4	56111	broad.mit.edu	37	5	140736435	140736435	+	Silent	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr5:140736435C>T	ENST00000571252.1	+	1	1668	c.1668C>T	c.(1666-1668)aaC>aaT	p.N556N	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	556	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACCAGAACGACAATGTCC	0.577																																						uc003ljq.1																			0					0						c.(1666-1668)AAC>AAT		protocadherin gamma subfamily A, 4 isoform 1							200.0	210.0	207.0					5																	140736435		2200	4300	6500	SO:0001819	synonymous_variant	56111				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140736435C>T	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.1668C>T	5.37:g.140736435C>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Silent_p.N556N	p.N556N	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1668	+			556			Extracellular (Potential).|Cadherin 5.		Q9Y5D3	Silent	SNP	ENST00000571252.1	37	c.1668C>T	CCDS58979.1																																																																																				0.577	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917	
NOTCH4	4855	broad.mit.edu	37	6	32172007	32172007	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr6:32172007C>T	ENST00000375023.3	-	19	3163	c.3025G>A	c.(3025-3027)Gag>Aag	p.E1009K		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1009	EGF-like 26. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TCCAGACACTCGTCCACGTCT	0.612																																						uc003obb.2																			0				lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						c.(3025-3027)GAG>AAG		notch4 preproprotein							83.0	62.0	70.0					6																	32172007		1510	2708	4218	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32172007C>T		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.3025G>A	6.37:g.32172007C>T	ENSP00000364163:p.Glu1009Lys					NOTCH4_uc003oba.2_5'Flank|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA	p.E1009K	NM_004557	NP_004548	Q99466	NOTC4_HUMAN			19	3164	-			1009			Extracellular (Potential).|EGF-like 26.		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.3025G>A	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	C	32	5.174987	0.94807	.	.	ENSG00000204301	ENST00000375023	D	0.87412	-2.25	4.77	4.77	0.60923	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.45606	D	0.000344	D	0.93831	0.8027	M	0.92649	3.33	0.80722	D	1	D	0.76494	0.999	D	0.65573	0.936	D	0.94957	0.8105	9	.	.	.	.	15.335	0.74244	0.0:1.0:0.0:0.0	.	1009	Q99466	NOTC4_HUMAN	K	1009	ENSP00000364163:E1009K	.	E	-	1	0	NOTCH4	32279985	1.000000	0.71417	0.991000	0.47740	0.972000	0.66771	7.048000	0.76606	2.488000	0.83962	0.561000	0.74099	GAG		0.612	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2		
MYO6	4646	broad.mit.edu	37	6	76599857	76599858	+	Frame_Shift_Ins	INS	-	-	A	rs551348450	byFrequency	TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr6:76599857_76599858insA	ENST00000369977.3	+	26	2881_2882	c.2742_2743insA	c.(2743-2745)aaafs	p.K915fs	MYO6_ENST00000369975.1_Frame_Shift_Ins_p.K915fs|MYO6_ENST00000369981.3_Frame_Shift_Ins_p.K915fs|MYO6_ENST00000369985.4_Frame_Shift_Ins_p.K915fs	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	915					actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)	p.K917fs*10(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GTGCATTACAGAAAAAAAAACA	0.381													AAAAAAAAA|AAAAAAAAA|AAAAAAAAAA|insertion	18	0.00359425	0.0083	0.0014	5008	,	,		16538	0.0		0.0	False		,,,				2504	0.0061					uc003pih.1																			1	Deletion - Frameshift(1)		large_intestine(1)	kidney(1)|pancreas(1)	2						c.(2740-2745)CAGAAAfs		myosin VI				9,4255		0,9,2123						5.8	1.0			86	31,8223		0,31,4096	no	frameshift	MYO6	NM_004999.3		0,40,6219	A1A1,A1R,RR		0.3756,0.2111,0.3195				40,12478				SO:0001589	frameshift_variant	4646				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	g.chr6:76599857_76599858insA	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.2751dupA	6.37:g.76599866_76599866dupA	ENSP00000358994:p.Lys915fs					MYO6_uc003pig.1_Frame_Shift_Ins_p.Q914fs|MYO6_uc003pii.1_Frame_Shift_Ins_p.Q914fs	p.Q914fs	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	26	3021_3022	+		all_hematologic(105;0.189)	914_915			Potential.		A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Frame_Shift_Ins	INS	ENST00000369977.3	37	c.2742_2743insA	CCDS34487.1																																																																																				0.381	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999	
QKI	9444	broad.mit.edu	37	6	163899821	163899821	+	Frame_Shift_Del	DEL	G	G	-			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr6:163899821delG	ENST00000361752.3	+	3	846	c.295delG	c.(295-297)gttfs	p.V99fs	QKI_ENST00000424802.3_Frame_Shift_Del_p.V99fs|QKI_ENST00000453779.2_Frame_Shift_Del_p.V99fs|QKI_ENST00000392127.2_Frame_Shift_Del_p.V99fs|QKI_ENST00000361195.2_Frame_Shift_Del_p.V99fs|QKI_ENST00000275262.7_Frame_Shift_Del_p.V99fs	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	99	KH.				long-chain fatty acid biosynthetic process (GO:0042759)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|muscle cell differentiation (GO:0042692)|myelination (GO:0042552)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|spermatid development (GO:0007286)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		GTTTAATTTTGTTGGGAGAAT	0.358																																						uc003qui.2																			0				large_intestine(1)|ovary(1)	2						c.(295-297)GTTfs		quaking homolog, KH domain RNA binding isoform							58.0	60.0	60.0					6																	163899821		2203	4300	6503	SO:0001589	frameshift_variant	9444				mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding	g.chr6:163899821delG	AB067798	CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1	6q26	2011-09-12	2011-09-12		ENSG00000112531	ENSG00000112531			21100	protein-coding gene	gene with protein product		609590	"""quaking homolog, KH domain RNA binding (mouse)"""			10535969	Standard	NM_006775		Approved	QK3	uc003qui.3	Q96PU8	OTTHUMG00000015977	ENST00000361752.3:c.295delG	6.37:g.163899821delG	ENSP00000355094:p.Val99fs					QKI_uc003que.2_Frame_Shift_Del_p.V99fs|QKI_uc003quf.2_Frame_Shift_Del_p.V99fs|QKI_uc003qug.2_Frame_Shift_Del_p.V99fs|QKI_uc003quh.2_Frame_Shift_Del_p.V99fs|QKI_uc003quj.2_Frame_Shift_Del_p.V99fs	p.V99fs	NM_006775	NP_006766	Q96PU8	QKI_HUMAN		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)	3	846	+		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)	99			KH.		Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1	Frame_Shift_Del	DEL	ENST00000361752.3	37	c.295delG	CCDS5285.1																																																																																				0.358	QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043016.2	NM_006775	
ANLN	54443	broad.mit.edu	37	7	36459856	36459856	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr7:36459856A>G	ENST00000265748.2	+	11	2169	c.1948A>G	c.(1948-1950)Aga>Gga	p.R650G	ANLN_ENST00000396068.2_Missense_Mutation_p.R613G	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	650	Interaction with F-actin.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						AAAATTCCAAAGAACTCGTGT	0.433																																						uc003tff.2																			0				ovary(2)|skin(1)	3						c.(1948-1950)AGA>GGA		anillin, actin binding protein							112.0	108.0	110.0					7																	36459856		2203	4300	6503	SO:0001583	missense	54443				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	g.chr7:36459856A>G	AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.1948A>G	7.37:g.36459856A>G	ENSP00000265748:p.Arg650Gly					ANLN_uc011kaz.1_Missense_Mutation_p.R562G|ANLN_uc003tfg.2_Missense_Mutation_p.R613G|ANLN_uc010kxe.2_Missense_Mutation_p.R612G	p.R650G	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN			11	2152	+			650			Interaction with F-actin.		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	37	c.1948A>G	CCDS5447.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.610668	0.87258	.	.	ENSG00000011426	ENST00000265748;ENST00000396068	T;T	0.15718	2.4;2.47	5.84	5.84	0.93424	.	0.038966	0.85682	D	0.000000	T	0.37812	0.1017	L	0.59436	1.845	0.58432	D	0.999999	D;D;D;D	0.76494	0.999;0.998;0.999;0.998	P;P;D;D	0.68353	0.907;0.907;0.957;0.948	T	0.08493	-1.0719	10	0.66056	D	0.02	-26.9293	14.7869	0.69810	1.0:0.0:0.0:0.0	.	527;612;613;650	B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6	.;.;.;ANLN_HUMAN	G	650;613	ENSP00000265748:R650G;ENSP00000379380:R613G	ENSP00000265748:R650G	R	+	1	2	ANLN	36426381	1.000000	0.71417	0.984000	0.44739	0.997000	0.91878	4.066000	0.57520	2.243000	0.73865	0.533000	0.62120	AGA		0.433	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685	
CACNA2D1	781	broad.mit.edu	37	7	81799924	81799924	+	Splice_Site	SNP	C	C	T	rs562957992		TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr7:81799924C>T	ENST00000356253.5	-	4	551	c.296G>A	c.(295-297)cGc>cAc	p.R99H	CACNA2D1_ENST00000423588.1_Splice_Site_p.R99H|CACNA2D1_ENST00000356860.3_Splice_Site_p.R99H			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	99				R -> S (in Ref. 1; AAA51903). {ECO:0000305}.	calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CAATGCCAGGCGCTGAAAAAC	0.348																																						uc003uhr.1																			0				ovary(5)|pancreas(1)	6						c.(295-297)CGC>CAC		calcium channel, voltage-dependent, alpha	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						148.0	158.0	155.0					7																	81799924		2203	4300	6503	SO:0001630	splice_region_variant	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81799924C>T	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.295-1G>A	7.37:g.81799924C>T							p.R99H	NM_000722	NP_000713	P54289	CA2D1_HUMAN			4	552	-			99	R -> S (in Ref. 1; AAA51903).		Extracellular (Potential).		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.296G>A		.	.	.	.	.	.	.	.	.	.	C	16.53	3.149413	0.57151	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000423588	T;T;T	0.26067	3.08;3.07;1.76	6.03	6.03	0.97812	.	0.069805	0.56097	D	0.000022	T	0.15696	0.0378	N	0.12471	0.22	0.80722	D	1	B	0.27351	0.176	B	0.23716	0.048	T	0.06285	-1.0835	10	0.44086	T	0.13	-8.574	12.9692	0.58503	0.0:0.9264:0.0:0.0736	.	99	P54289-2	.	H	99	ENSP00000349320:R99H;ENSP00000348589:R99H;ENSP00000405395:R99H	ENSP00000284088:R99H	R	-	2	0	CACNA2D1	81637860	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.979000	0.29500	2.861000	0.98227	0.655000	0.94253	CGC		0.348	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding			Missense_Mutation
PCLO	27445	broad.mit.edu	37	7	82784341	82784341	+	Missense_Mutation	SNP	G	G	T	rs527289787		TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr7:82784341G>T	ENST00000333891.9	-	2	1953	c.1616C>A	c.(1615-1617)cCc>cAc	p.P539H	PCLO_ENST00000423517.2_Missense_Mutation_p.P539H	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTGAGCTGAGGGTTTTGCTGA	0.547																																						uc003uhx.2																			0				ovary(7)	7						c.(1615-1617)CCC>CAC		piccolo isoform 1							218.0	223.0	222.0					7																	82784341		1990	4180	6170	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82784341G>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.1616C>A	7.37:g.82784341G>T	ENSP00000334319:p.Pro539His					PCLO_uc003uhv.2_Missense_Mutation_p.P539H	p.P539H	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			2	1905	-			485			Gln-rich.|Pro-rich.|10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.			Missense_Mutation	SNP	ENST00000333891.9	37	c.1616C>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	g	14.11	2.438981	0.43326	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.19105	2.17;2.17	4.75	4.75	0.60458	.	.	.	.	.	T	0.40015	0.1100	L	0.49778	1.585	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.63192	0.912;0.912	T	0.31696	-0.9934	9	0.87932	D	0	.	17.7462	0.88421	0.0:0.0:1.0:0.0	.	539;539	Q9Y6V0-5;Q9Y6V0-6	.;.	H	485;539;539	ENSP00000334319:P539H;ENSP00000388393:P539H	ENSP00000334319:P539H	P	-	2	0	PCLO	82622277	0.024000	0.19004	0.120000	0.21714	0.907000	0.53573	0.835000	0.27531	2.181000	0.69327	0.603000	0.83216	CCC		0.547	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
SAMD9L	219285	broad.mit.edu	37	7	92763758	92763758	+	Nonsense_Mutation	SNP	A	A	C			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr7:92763758A>C	ENST00000318238.4	-	5	2743	c.1527T>G	c.(1525-1527)taT>taG	p.Y509*	SAMD9L_ENST00000437805.1_Nonsense_Mutation_p.Y509*|SAMD9L_ENST00000411955.1_Nonsense_Mutation_p.Y509*	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	509					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTAGAGGTTTATATGTCTCGC	0.378																																						uc003umh.1																			0				ovary(4)	4						c.(1525-1527)TAT>TAG		sterile alpha motif domain containing 9-like							82.0	86.0	85.0					7																	92763758		2203	4300	6503	SO:0001587	stop_gained	219285							g.chr7:92763758A>C	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.1527T>G	7.37:g.92763758A>C	ENSP00000326247:p.Tyr509*					SAMD9L_uc003umj.1_Nonsense_Mutation_p.Y509*|SAMD9L_uc003umi.1_Nonsense_Mutation_p.Y509*|SAMD9L_uc010lfb.1_Nonsense_Mutation_p.Y509*|SAMD9L_uc003umk.1_Nonsense_Mutation_p.Y509*|SAMD9L_uc010lfc.1_Nonsense_Mutation_p.Y509*|SAMD9L_uc010lfd.1_Nonsense_Mutation_p.Y509*|SAMD9L_uc011khx.1_Intron	p.Y509*	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	2743	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		509					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Nonsense_Mutation	SNP	ENST00000318238.4	37	c.1527T>G	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	A	44	10.948800	0.99493	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	.	.	.	4.37	-0.751	0.11076	.	1.109450	0.07046	N	0.831094	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.2167	5.6811	0.17776	0.4937:0.0:0.3759:0.1304	.	.	.	.	X	509	.	ENSP00000326247:Y509X	Y	-	3	2	SAMD9L	92601694	0.052000	0.20516	0.034000	0.17996	0.275000	0.26752	-0.347000	0.07750	-0.032000	0.13758	0.377000	0.23210	TAT		0.378	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703	
TAS2R41	259287	broad.mit.edu	37	7	143175728	143175728	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr7:143175728G>A	ENST00000408916.1	+	1	763	c.763G>A	c.(763-765)Gca>Aca	p.A255T	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	255					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CATTGATGCCGCAAAATTTAT	0.493																																						uc003wdc.1																			0				pancreas(1)|skin(1)	2						c.(763-765)GCA>ACA		taste receptor, type 2, member 41							134.0	133.0	134.0					7																	143175728		2036	4193	6229	SO:0001583	missense	259287				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143175728G>A	AF494232	CCDS43663.1	7q34	2012-08-22			ENSG00000221855	ENSG00000221855		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18883	protein-coding gene	gene with protein product		613965				12379855	Standard	NM_176883		Approved	T2R59	uc003wdc.1	P59536	OTTHUMG00000155892	ENST00000408916.1:c.763G>A	7.37:g.143175728G>A	ENSP00000386201:p.Ala255Thr					uc003wda.2_Intron	p.A255T	NM_176883	NP_795364	P59536	T2R41_HUMAN			1	763	+	Melanoma(164;0.15)		255			Helical; Name=6; (Potential).		P59550|Q495I2|Q50KJ5|Q50KJ6|Q50KJ7|Q645W7	Missense_Mutation	SNP	ENST00000408916.1	37	c.763G>A	CCDS43663.1	.	.	.	.	.	.	.	.	.	.	A	0.047	-1.261440	0.01445	.	.	ENSG00000221855	ENST00000408916	T	0.00700	5.82	6.0	-2.55	0.06288	.	0.960065	0.08579	N	0.924818	T	0.00552	0.0018	N	0.11673	0.155	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.43130	-0.9410	10	0.19590	T	0.45	.	9.7365	0.40390	0.2395:0.1135:0.647:0.0	.	255	P59536	T2R41_HUMAN	T	255	ENSP00000386201:A255T	ENSP00000386201:A255T	A	+	1	0	TAS2R41	142885850	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.318000	0.02705	-0.547000	0.06207	-0.977000	0.02584	GCA		0.493	TAS2R41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342149.1		
TPD52L3	89882	broad.mit.edu	37	9	6328761	6328761	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr9:6328761C>T	ENST00000344545.5	+	1	413	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C	TPD52L3_ENST00000381428.1_Missense_Mutation_p.R56C|TPD52L3_ENST00000314556.3_Missense_Mutation_p.R56C	NM_033516.5	NP_277051	Q96J77	TPD55_HUMAN	tumor protein D52-like 3	56								p.R56C(2)		large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		CAAAGAGAGACGCTGTGGGGA	0.512																																						uc003zjw.2																			2	Substitution - Missense(2)		lung(2)		0						c.(166-168)CGC>TGC		protein kinase NYD-SP25 isoform 1							106.0	91.0	96.0					9																	6328761		2203	4300	6503	SO:0001583	missense	89882						protein binding	g.chr9:6328761C>T	AY032877	CCDS34984.1, CCDS34985.1, CCDS34986.1	9p24.1	2008-02-05			ENSG00000170777	ENSG00000170777			23382	protein-coding gene	gene with protein product							Standard	NM_033516		Approved	NYD-SP25	uc003zjw.3	Q96J77	OTTHUMG00000019518	ENST00000344545.5:c.166C>T	9.37:g.6328761C>T	ENSP00000341677:p.Arg56Cys					TPD52L3_uc003zjv.2_Missense_Mutation_p.R56C|TPD52L3_uc003zjx.1_Missense_Mutation_p.R56C	p.R56C	NM_033516	NP_277051	Q96J77	TPD55_HUMAN		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)	1	387	+		Acute lymphoblastic leukemia(23;0.158)	56			Potential.		Q5TCR3|Q5TCR4|Q5TCR5|Q8N4P5|Q8WWF7|Q96M09	Missense_Mutation	SNP	ENST00000344545.5	37	c.166C>T	CCDS34986.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.333424	0.24167	.	.	ENSG00000170777	ENST00000344545;ENST00000381428;ENST00000314556	T;T;T	0.25749	1.78;1.78;1.78	4.88	3.04	0.35103	.	0.278041	0.34507	N	0.003908	T	0.21227	0.0511	L	0.52126	1.63	0.09310	N	0.999998	B;B;B	0.32573	0.085;0.376;0.325	B;B;B	0.30572	0.02;0.117;0.105	T	0.16630	-1.0396	10	0.62326	D	0.03	-9.6097	7.6257	0.28210	0.0:0.8087:0.0:0.1913	.	56;56;56	Q96J77-2;Q96J77;Q96J77-3	.;TPD55_HUMAN;.	C	56	ENSP00000341677:R56C;ENSP00000370836:R56C;ENSP00000318665:R56C	ENSP00000318665:R56C	R	+	1	0	TPD52L3	6318761	0.716000	0.27956	0.012000	0.15200	0.397000	0.30659	1.935000	0.40173	0.796000	0.33947	0.511000	0.50034	CGC		0.512	TPD52L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051658.1	NM_033516	
TMEM215	401498	broad.mit.edu	37	9	32784670	32784670	+	Silent	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr9:32784670C>T	ENST00000342743.5	+	2	854	c.489C>T	c.(487-489)gaC>gaT	p.D163D		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	163						integral component of membrane (GO:0016021)				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						GATACCTGGACGGCTACTGCC	0.602																																						uc003zri.3																			0					0						c.(487-489)GAC>GAT		transmembrane protein 215							49.0	46.0	47.0					9																	32784670		2203	4300	6503	SO:0001819	synonymous_variant	401498					integral to membrane		g.chr9:32784670C>T		CCDS6530.1	9p21.1	2008-08-08			ENSG00000188133	ENSG00000188133			33816	protein-coding gene	gene with protein product							Standard	NM_212558		Approved		uc003zri.4	Q68D42	OTTHUMG00000129521	ENST00000342743.5:c.489C>T	9.37:g.32784670C>T							p.D163D	NM_212558	NP_997723	Q68D42	TM215_HUMAN			2	854	+			163					Q6ZUU2	Silent	SNP	ENST00000342743.5	37	c.489C>T	CCDS6530.1																																																																																				0.602	TMEM215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251701.1	NM_212558	
TRPM6	140803	broad.mit.edu	37	9	77423011	77423011	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr9:77423011C>T	ENST00000360774.1	-	14	1814	c.1577G>A	c.(1576-1578)cGc>cAc	p.R526H	TRPM6_ENST00000361255.3_Missense_Mutation_p.R521H|TRPM6_ENST00000449912.2_Missense_Mutation_p.R521H|TRPM6_ENST00000451710.3_Missense_Mutation_p.R526H|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.R526H|TRPM6_ENST00000376872.3_Missense_Mutation_p.R526H	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	526					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GTAGTTGCTGCGATATGCTCT	0.388																																						uc004ajl.1																			0				lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						c.(1576-1578)CGC>CAC		transient receptor potential cation channel,							256.0	243.0	247.0					9																	77423011		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77423011C>T	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.1577G>A	9.37:g.77423011C>T	ENSP00000354006:p.Arg526His					TRPM6_uc004ajk.1_Missense_Mutation_p.R521H|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.R526H|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron	p.R526H	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN			14	1815	-			526			Cytoplasmic (Potential).		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.1577G>A	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.924348	0.92319	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T;T	0.75704	-0.96;-0.96;0.42;-0.96;-0.96;-0.96	5.74	5.74	0.90152	.	0.155279	0.64402	D	0.000012	D	0.84365	0.5456	M	0.73372	2.23	0.58432	D	0.999992	D;D;D	0.89917	0.999;1.0;0.993	D;D;P	0.68765	0.917;0.96;0.805	D	0.85613	0.1259	10	0.87932	D	0	.	14.1263	0.65222	0.0:0.9285:0.0:0.0715	.	526;526;521	Q9BX84-5;Q9BX84;Q9BX84-3	.;TRPM6_HUMAN;.	H	526;526;526;521;521;526;189;189	ENSP00000354006:R526H;ENSP00000407341:R526H;ENSP00000366068:R526H;ENSP00000396672:R521H;ENSP00000354962:R521H;ENSP00000366060:R526H	ENSP00000309693:R189H	R	-	2	0	TRPM6	76612831	0.999000	0.42202	0.995000	0.50966	0.988000	0.76386	4.079000	0.57613	2.715000	0.92844	0.655000	0.94253	CGC		0.388	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662	
FGD3	89846	broad.mit.edu	37	9	95792189	95792189	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr9:95792189C>T	ENST00000375482.3	+	15	2087	c.1591C>T	c.(1591-1593)Cgt>Tgt	p.R531C	FGD3_ENST00000416701.2_Missense_Mutation_p.R531C|FGD3_ENST00000538555.1_Missense_Mutation_p.R134C|FGD3_ENST00000337352.6_Missense_Mutation_p.R531C	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	531					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						TAAGACCAGACGTGACAAGGA	0.537																																						uc004asw.2																			0				ovary(1)|breast(1)	2						c.(1591-1593)CGT>TGT		FYVE, RhoGEF and PH domain containing 3							104.0	109.0	108.0					9																	95792189		2089	4225	6314	SO:0001583	missense	89846				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr9:95792189C>T	AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16027	protein-coding gene	gene with protein product			"""FGD1 family, member 3"""			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.1591C>T	9.37:g.95792189C>T	ENSP00000364631:p.Arg531Cys					FGD3_uc004asx.2_Missense_Mutation_p.R531C|FGD3_uc004asz.2_Missense_Mutation_p.R531C|FGD3_uc011luc.1_Missense_Mutation_p.R134C	p.R531C	NM_001083536	NP_001077005	Q5JSP0	FGD3_HUMAN			15	2219	+			531					F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Missense_Mutation	SNP	ENST00000375482.3	37	c.1591C>T	CCDS43849.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.748772	0.69533	.	.	ENSG00000127084	ENST00000375482;ENST00000416701;ENST00000337352;ENST00000538555	T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66	4.64	3.68	0.42216	Zinc finger, FYVE-type (2);Zinc finger, FYVE/PHD-type (1);	0.000000	0.33075	N	0.005303	D	0.83055	0.5171	M	0.80183	2.485	0.50171	D	0.999859	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	D	0.85404	0.1133	10	0.87932	D	0	.	12.5037	0.55970	0.1668:0.8332:0.0:0.0	.	531;531	F8W7P2;Q5JSP0	.;FGD3_HUMAN	C	531;531;531;134	ENSP00000364631:R531C;ENSP00000413833:R531C;ENSP00000336914:R531C;ENSP00000442560:R134C	ENSP00000336914:R531C	R	+	1	0	FGD3	94832010	1.000000	0.71417	0.984000	0.44739	0.979000	0.70002	2.197000	0.42696	2.314000	0.78098	0.561000	0.74099	CGT		0.537	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055493.1	NM_033086	
TLR7	51284	broad.mit.edu	37	X	12906487	12906487	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chrX:12906487G>A	ENST00000380659.3	+	3	2999	c.2860G>A	c.(2860-2862)Gtg>Atg	p.V954M		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	954	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	CAAAAAGACAGTGTTTGTGAT	0.388																																						uc004cvc.2																			0				ovary(2)|lung(2)|breast(1)	5						c.(2860-2862)GTG>ATG		toll-like receptor 7 precursor	Imiquimod(DB00724)						144.0	147.0	146.0					X																	12906487		2203	4300	6503	SO:0001583	missense	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12906487G>A	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.2860G>A	X.37:g.12906487G>A	ENSP00000370034:p.Val954Met						p.V954M	NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN			3	2999	+			954			TIR.|Cytoplasmic (Potential).		D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	37	c.2860G>A	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.129801	0.56721	.	.	ENSG00000196664	ENST00000380659	T	0.03580	3.88	5.96	5.09	0.68999	Toll/interleukin-1 receptor homology (TIR) domain (3);	0.154469	0.41938	D	0.000783	T	0.18173	0.0436	M	0.83012	2.62	0.50632	D	0.999889	D	0.63880	0.993	D	0.72338	0.977	T	0.00053	-1.2187	10	0.87932	D	0	.	11.7245	0.51702	0.1466:0.0:0.8534:0.0	.	954	Q9NYK1	TLR7_HUMAN	M	954	ENSP00000370034:V954M	ENSP00000370034:V954M	V	+	1	0	TLR7	12816408	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	4.581000	0.60949	2.513000	0.84729	0.600000	0.82982	GTG		0.388	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562	
CHRDL1	91851	broad.mit.edu	37	X	109922646	109922646	+	Silent	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chrX:109922646G>A	ENST00000372045.1	-	11	1271	c.1140C>T	c.(1138-1140)ctC>ctT	p.L380L	CHRDL1_ENST00000482160.1_Silent_p.L308L|CHRDL1_ENST00000218054.4_Silent_p.L386L|CHRDL1_ENST00000394797.4_Silent_p.L386L|CHRDL1_ENST00000434224.1_Silent_p.L307L|CHRDL1_ENST00000444321.2_Silent_p.L387L|CHRDL1_ENST00000372042.1_Silent_p.L388L			Q9BU40	CRDL1_HUMAN	chordin-like 1	380					BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|compound eye development (GO:0048749)|eye development (GO:0001654)|negative regulation of BMP signaling pathway (GO:0030514)|nervous system development (GO:0007399)|ossification (GO:0001503)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						GGAAGTGCTGGAGAATGCCTA	0.453																																						uc004eou.3																			0					0						c.(1162-1164)CTC>CTT		chordin-like 1 isoform 1 precursor							119.0	94.0	102.0					X																	109922646		2203	4300	6503	SO:0001819	synonymous_variant	91851				BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region		g.chrX:109922646G>A	AL049176	CCDS14553.1, CCDS48148.1, CCDS48149.1, CCDS48150.1, CCDS48148.2	Xq23	2014-01-31			ENSG00000101938	ENSG00000101938			29861	protein-coding gene	gene with protein product		300350	"""megalocornea 1 (X-linked)"""	MGC1		11441185, 11118896, 22284829	Standard	NM_001143981		Approved	NRLN1, CHL	uc004eow.3	Q9BU40	OTTHUMG00000022199	ENST00000372045.1:c.1140C>T	X.37:g.109922646G>A						CHRDL1_uc004eov.2_Silent_p.L377L|CHRDL1_uc004eow.2_Silent_p.L386L|CHRDL1_uc010nps.2_Silent_p.L387L|CHRDL1_uc004eot.2_Silent_p.L307L|CHRDL1_uc011mss.1_Silent_p.L302L	p.L388L	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN			11	1513	-			380					B1AKD0|B4DMP3|D3DUY6|E9PGS5|Q539E4|Q9Y3H7	Silent	SNP	ENST00000372045.1	37	c.1164C>T																																																																																					0.453	CHRDL1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057912.1	NM_145234	
AFF2	2334	broad.mit.edu	37	X	148039907	148039907	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chrX:148039907G>A	ENST00000370460.2	+	12	3088	c.2609G>A	c.(2608-2610)cGc>cAc	p.R870H	AFF2_ENST00000286437.5_Missense_Mutation_p.R511H|AFF2_ENST00000342251.3_Missense_Mutation_p.R837H|AFF2_ENST00000370457.5_Missense_Mutation_p.R837H	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	870					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AAGAAGCAGCGCCTGGAGGAG	0.512																																						uc004fcp.2																			0				ovary(3)|pancreas(2)	5						c.(2608-2610)CGC>CAC		fragile X mental retardation 2							201.0	185.0	191.0					X																	148039907		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148039907G>A	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.2609G>A	X.37:g.148039907G>A	ENSP00000359489:p.Arg870His					AFF2_uc004fcq.2_Missense_Mutation_p.R860H|AFF2_uc004fcr.2_Missense_Mutation_p.R831H|AFF2_uc011mxb.1_Missense_Mutation_p.R835H|AFF2_uc004fcs.2_Missense_Mutation_p.R837H|AFF2_uc011mxc.1_Missense_Mutation_p.R511H	p.R870H	NM_002025	NP_002016	P51816	AFF2_HUMAN			12	3088	+	Acute lymphoblastic leukemia(192;6.56e-05)		870					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.2609G>A	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	G	31	5.085953	0.94100	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.81	5.81	0.92471	.	0.209053	0.31884	N	0.006906	T	0.78355	0.4270	L	0.48986	1.54	0.58432	D	0.999992	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.998;0.998;0.998;0.998;0.999	T	0.76310	-0.3006	10	0.38643	T	0.18	.	17.8702	0.88808	0.0:0.0:1.0:0.0	.	511;835;837;831;860;870	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	H	870;837;837;511	ENSP00000359489:R870H;ENSP00000359486:R837H;ENSP00000345459:R837H;ENSP00000286437:R511H	ENSP00000286437:R511H	R	+	2	0	AFF2	147847607	1.000000	0.71417	0.994000	0.49952	0.962000	0.63368	7.331000	0.79192	2.440000	0.82611	0.600000	0.82982	CGC		0.512	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025	
L1CAM	3897	broad.mit.edu	37	X	153130576	153130576	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chrX:153130576C>T	ENST00000370060.1	-	22	3028	c.2839G>A	c.(2839-2841)Gtg>Atg	p.V947M	L1CAM_ENST00000361981.3_Missense_Mutation_p.V942M|L1CAM_ENST00000361699.4_Missense_Mutation_p.V947M|L1CAM_ENST00000370057.3_Missense_Mutation_p.V947M|L1CAM_ENST00000538883.1_Missense_Mutation_p.V949M|L1CAM_ENST00000370055.1_Missense_Mutation_p.V942M|L1CAM_ENST00000543994.1_Missense_Mutation_p.V949M	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	947	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.		Missing (in HSAS). {ECO:0000269|PubMed:9195224}.		axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)	p.V947M(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCGGTGAGCACGCCGTTGTGG	0.716																																						uc004fjb.2																			1	Substitution - Missense(1)	p.V947M(1)	ovary(1)	ovary(8)|central_nervous_system(1)	9						c.(2839-2841)GTG>ATG		L1 cell adhesion molecule isoform 1 precursor							24.0	23.0	23.0					X																	153130576		2200	4295	6495	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153130576C>T	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.2839G>A	X.37:g.153130576C>T	ENSP00000359077:p.Val947Met					L1CAM_uc004fjc.2_Missense_Mutation_p.V947M|L1CAM_uc010nuo.2_Missense_Mutation_p.V942M	p.V947M	NM_000425	NP_000416	P32004	L1CAM_HUMAN			21	2947	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		947		Missing (in HSAS).	Extracellular (Potential).|Fibronectin type-III 4.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.2839G>A	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.396302	0.42512	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38;0.38;0.38	5.16	4.28	0.50868	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.281403	0.24786	N	0.035610	T	0.63896	0.2550	M	0.85197	2.74	0.09310	N	1	D;P;D	0.56968	0.972;0.912;0.978	P;B;P	0.54460	0.638;0.34;0.753	T	0.60372	-0.7276	10	0.49607	T	0.09	.	6.2199	0.20675	0.0:0.7877:0.0:0.2123	.	942;947;947	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	M	947;949;947;949;942;942;947	ENSP00000359077:V947M;ENSP00000438430:V949M;ENSP00000359074:V947M;ENSP00000439645:V949M;ENSP00000354712:V942M;ENSP00000359072:V942M;ENSP00000355380:V947M	ENSP00000355380:V947M	V	-	1	0	L1CAM	152783770	0.689000	0.27690	0.979000	0.43373	0.455000	0.32408	1.090000	0.30902	2.143000	0.66587	0.523000	0.50628	GTG		0.716	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003	
AVPR2	554	broad.mit.edu	37	X	153171843	153171843	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chrX:153171843G>A	ENST00000358927.2	+	3	1092	c.883G>A	c.(883-885)Gcg>Acg	p.A295T	AVPR2_ENST00000337474.5_Missense_Mutation_p.A295T|AVPR2_ENST00000370049.1_Missense_Mutation_p.A295T			P30518	V2R_HUMAN	arginine vasopressin receptor 2	295					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|excretion (GO:0007588)|hemostasis (GO:0007599)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-gamma production (GO:0032609)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of systemic arterial blood pressure (GO:0003084)|response to cytokine (GO:0034097)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	vasopressin receptor activity (GO:0005000)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Desmopressin(DB00035)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	GCTGTGGGCCGCGTGGGACCC	0.647																																						uc004fjh.3																			0				breast(1)	1						c.(883-885)GCG>ACG		arginine vasopressin receptor 2 isoform 1	Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)						130.0	103.0	112.0					X																	153171843		2203	4300	6503	SO:0001583	missense	554				activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity	g.chrX:153171843G>A	Z11687	CCDS14735.1, CCDS55539.1	Xq28	2014-09-17	2008-08-01		ENSG00000126895	ENSG00000126895		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	897	protein-coding gene	gene with protein product	"""nephrogenic diabetes insipidus"""	300538		DIR3, DIR		1324225	Standard	NM_000054		Approved	V2R	uc004fjh.4	P30518	OTTHUMG00000024227	ENST00000358927.2:c.883G>A	X.37:g.153171843G>A	ENSP00000351805:p.Ala295Thr					AVPR2_uc004fjg.3_Missense_Mutation_p.A84T|AVPR2_uc004fji.2_Missense_Mutation_p.A295T	p.A295T	NM_000054	NP_000045	P30518	V2R_HUMAN			2	954	+	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		295			Extracellular (Potential).		C5HF20|O43192|Q3MJD3|Q9UCV9	Missense_Mutation	SNP	ENST00000358927.2	37	c.883G>A	CCDS14735.1	.	.	.	.	.	.	.	.	.	.	g	23.6	4.432096	0.83776	.	.	ENSG00000126895	ENST00000358927;ENST00000337474;ENST00000370049	T;T;T	0.37915	1.17;1.17;1.17	3.59	3.59	0.41128	GPCR, rhodopsin-like superfamily (1);	0.186268	0.47455	D	0.000235	T	0.52041	0.1710	M	0.62088	1.915	0.47737	D	0.999506	D;D	0.65815	0.995;0.993	P;P	0.60236	0.796;0.871	T	0.58370	-0.7648	10	0.66056	D	0.02	.	14.0675	0.64839	0.0:0.0:1.0:0.0	.	295;295	P30518-2;P30518	.;V2R_HUMAN	T	295	ENSP00000351805:A295T;ENSP00000338072:A295T;ENSP00000359066:A295T	ENSP00000338072:A295T	A	+	1	0	AVPR2	152825037	1.000000	0.71417	0.958000	0.39756	0.769000	0.43574	7.865000	0.87049	1.737000	0.51674	0.271000	0.19318	GCG		0.647	AVPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061127.2		
