#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
MACF1	23499	broad.mit.edu	37	1	39750772	39750772	+	Silent	SNP	C	C	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr1:39750772C>T	ENST00000372915.3	+	11	1251	c.1164C>T	c.(1162-1164)ggC>ggT	p.G388G	MACF1_ENST00000317713.7_Silent_p.G388G|MACF1_ENST00000545844.1_Silent_p.G388G|MACF1_ENST00000361689.2_Silent_p.G388G|MACF1_ENST00000564288.1_Silent_p.G383G|MACF1_ENST00000539005.1_Silent_p.G388G|MACF1_ENST00000567887.1_Silent_p.G420G			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	388					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTGAATTTGGCCGAATTAAAC	0.433																																						uc010ois.1																			0				ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(1162-1164)GGC>GGT		microfilament and actin filament cross-linker							175.0	168.0	170.0					1																	39750772		2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39750772C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.1164C>T	1.37:g.39750772C>T						MACF1_uc001cda.1_Silent_p.G296G	p.G388G	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		13	1369	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	388			LRR 3.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.1164C>T																																																																																					0.433	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	
ANKRD34A	284615	broad.mit.edu	37	1	145473561	145473561	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr1:145473561G>A	ENST00000323397.4	+	4	1526	c.233G>A	c.(232-234)cGc>cAc	p.R78H	RP11-315I20.1_ENST00000600340.1_RNA	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	78						cytoplasm (GO:0005737)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CGATTAGGGCGCACGGCGCTC	0.706																																						uc001enq.1																			0					0						c.(232-234)CGC>CAC		ankyrin repeat domain 34							57.0	59.0	58.0					1																	145473561		2203	4300	6503	SO:0001583	missense	284615							g.chr1:145473561G>A	AK128050	CCDS72874.1	1q21.1	2013-01-10	2007-11-20	2007-11-20	ENSG00000181039	ENSG00000272031		"""Ankyrin repeat domain containing"""	27639	protein-coding gene	gene with protein product			"""ankyrin repeat domain 34"""	ANKRD34			Standard	NM_001039888		Approved		uc001enq.1	Q69YU3	OTTHUMG00000013740	ENST00000323397.4:c.233G>A	1.37:g.145473561G>A	ENSP00000314103:p.Arg78His					NBPF10_uc001emp.3_Intron	p.R78H	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN			4	1526	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		78			ANK 3.		B3KSU3	Missense_Mutation	SNP	ENST00000323397.4	37	c.233G>A	CCDS30829.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299952	0.81136	.	.	ENSG00000181039	ENST00000323397	T	0.66280	-0.2	5.13	5.13	0.70059	Ankyrin repeat-containing domain (4);	0.929818	0.08975	N	0.866703	T	0.71195	0.3311	M	0.74881	2.28	0.40421	D	0.979846	D	0.89917	1.0	D	0.68353	0.957	T	0.68032	-0.5516	10	0.52906	T	0.07	-11.0439	9.4852	0.38924	0.0935:0.0:0.9065:0.0	.	78	Q69YU3	AN34A_HUMAN	H	78	ENSP00000314103:R78H	ENSP00000314103:R78H	R	+	2	0	ANKRD34A	144184918	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.834000	0.69361	2.658000	0.90341	0.491000	0.48974	CGC		0.706	ANKRD34A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038512.1		
MTMR11	10903	broad.mit.edu	37	1	149901667	149901667	+	Missense_Mutation	SNP	T	T	C	rs375433690		TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr1:149901667T>C	ENST00000439741.2	-	16	2039	c.1789A>G	c.(1789-1791)Atc>Gtc	p.I597V	MTMR11_ENST00000361405.6_3'UTR|MTMR11_ENST00000369140.3_Missense_Mutation_p.I525V|MTMR11_ENST00000492824.1_5'UTR|SF3B4_ENST00000271628.8_5'Flank|MTMR11_ENST00000406732.3_3'UTR	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	597	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			TCAGAGGAGATAGCAGGTCGA	0.597																																						uc001etl.3																			0				central_nervous_system(1)	1						c.(1789-1791)ATC>GTC		myotubularin related protein 11 isoform a		T	VAL/ILE,VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	57.0	62.0	60.0		1573,1789	2.7	1.0	1		60	0,8600		0,0,4300	no	missense,missense	MTMR11	NM_181873.3,NM_001145862.1	29,29	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign,benign	525/641,597/710	149901667	1,13005	2203	4300	6503	SO:0001583	missense	10903						phosphatase activity	g.chr1:149901667T>C	AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	24307	protein-coding gene	gene with protein product	"""cisplatin resistance associated"""					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.1789A>G	1.37:g.149901667T>C	ENSP00000391668:p.Ile597Val					SF3B4_uc001etj.1_5'Flank|SF3B4_uc001etk.1_5'Flank|SF3B4_uc009wll.1_5'Flank|MTMR11_uc001etm.1_Missense_Mutation_p.I525V	p.I597V	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		16	2040	-	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		597			Myotubularin phosphatase.		B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Missense_Mutation	SNP	ENST00000439741.2	37	c.1789A>G	CCDS53360.1	.	.	.	.	.	.	.	.	.	.	T	9.276	1.046921	0.19748	2.27E-4	0.0	ENSG00000014914	ENST00000369140;ENST00000439741	T;T	0.41758	0.99;0.99	5.13	2.74	0.32292	Myotubularin phosphatase domain (1);	0.681858	0.14583	N	0.310761	T	0.08223	0.0205	N	0.08118	0	0.34517	D	0.707745	B;B	0.02656	0.0;0.0	B;B	0.08055	0.002;0.003	T	0.13575	-1.0504	10	0.29301	T	0.29	.	6.1005	0.20045	0.0:0.2227:0.0:0.7773	.	525;597	A4FU01-4;A4FU01	.;MTMRB_HUMAN	V	525;597	ENSP00000358136:I525V;ENSP00000391668:I597V	ENSP00000358136:I525V	I	-	1	0	MTMR11	148168291	0.008000	0.16893	0.992000	0.48379	0.997000	0.91878	-0.074000	0.11450	0.967000	0.38186	0.533000	0.62120	ATC		0.597	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_181873	
LYST	1130	broad.mit.edu	37	1	235993676	235993676	+	Silent	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr1:235993676G>A	ENST00000389794.3	-	3	216	c.42C>T	c.(40-42)acC>acT	p.T14T	LYST_ENST00000389793.2_Silent_p.T14T|LYST_ENST00000536965.1_Silent_p.T14T			Q99698	LYST_HUMAN	lysosomal trafficking regulator	14					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GGTTGACATCGGTCAGAAATT	0.458																																						uc001hxj.2																			0				ovary(6)|breast(4)|central_nervous_system(2)	12						c.(40-42)ACC>ACT		lysosomal trafficking regulator							71.0	67.0	68.0					1																	235993676		2203	4300	6503	SO:0001819	synonymous_variant	1130	Chediak-Higashi_syndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235993676G>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.42C>T	1.37:g.235993676G>A						LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Silent_p.T14T|LYST_uc001hxm.2_RNA|LYST_uc001hxn.1_Silent_p.T14T	p.T14T	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		3	217	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	14					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	ENST00000389794.3	37	c.42C>T	CCDS31062.1																																																																																				0.458	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5		
OR2AK2	391191	broad.mit.edu	37	1	248128698	248128698	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr1:248128698G>A	ENST00000366480.3	+	1	164	c.65G>A	c.(64-66)aGt>aAt	p.S22N	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GGAAATCAAAGTTTTGGGACA	0.363																																					Melanoma(45;390 1181 23848 28461 41504)	uc010pzd.1																			0		p.S22R(1)		ovary(1)|breast(1)	2						c.(64-66)AGT>AAT		olfactory receptor, family 2, subfamily AK,							132.0	126.0	128.0					1																	248128698		2203	4300	6503	SO:0001583	missense	391191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248128698G>A	BK004457	CCDS31102.1	1q44	2012-08-09			ENSG00000187080	ENSG00000187080		"""GPCR / Class A : Olfactory receptors"""	19569	protein-coding gene	gene with protein product				OR2AK1P			Standard	NM_001004491		Approved		uc010pzd.2	Q8NG84	OTTHUMG00000040201	ENST00000366480.3:c.65G>A	1.37:g.248128698G>A	ENSP00000355436:p.Ser22Asn					OR2L13_uc001ids.2_Intron	p.S22N	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	65	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		22			Extracellular (Potential).		B2RND1|Q6IF05	Missense_Mutation	SNP	ENST00000366480.3	37	c.65G>A	CCDS31102.1	.	.	.	.	.	.	.	.	.	.	.	9.904	1.207669	0.22205	.	.	ENSG00000187080	ENST00000366480	T	0.54071	0.59	2.96	-5.67	0.02444	.	.	.	.	.	T	0.42291	0.1196	L	0.55017	1.72	0.09310	N	1	B	0.16166	0.016	B	0.16289	0.015	T	0.48269	-0.9050	9	0.66056	D	0.02	.	8.5896	0.33679	0.2254:0.5873:0.1872:0.0	.	22	Q8NG84	O2AK2_HUMAN	N	22	ENSP00000355436:S22N	ENSP00000355436:S22N	S	+	2	0	OR2AK2	246195321	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.113000	0.03296	-0.717000	0.04955	-0.350000	0.07774	AGT		0.363	OR2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096858.2	NM_001004491	
OR2T33	391195	broad.mit.edu	37	1	248436720	248436720	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr1:248436720G>A	ENST00000318021.2	-	1	418	c.397C>T	c.(397-399)Ctc>Ttc	p.L133F		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	133						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CAGCTCATGAGAGTGGGATAT	0.592																																						uc010pzi.1																			0				large_intestine(1)|ovary(1)	2						c.(397-399)CTC>TTC		olfactory receptor, family 2, subfamily T,							79.0	79.0	79.0					1																	248436720		2203	4299	6502	SO:0001583	missense	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248436720G>A		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.397C>T	1.37:g.248436720G>A	ENSP00000324687:p.Leu133Phe						p.L133F	NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	397	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		133			Cytoplasmic (Potential).		B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	c.397C>T	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	4.533	0.098852	0.08681	.	.	ENSG00000177212	ENST00000318021	T	0.01379	4.96	2.7	1.58	0.23477	GPCR, rhodopsin-like superfamily (1);	0.272209	0.19515	U	0.112405	T	0.03608	0.0103	M	0.91406	3.205	0.21290	N	0.999731	P	0.35959	0.53	B	0.36418	0.224	T	0.12811	-1.0533	10	0.72032	D	0.01	.	7.5789	0.27952	0.0:0.0:0.4548:0.5451	.	133	Q8NG76	O2T33_HUMAN	F	133	ENSP00000324687:L133F	ENSP00000324687:L133F	L	-	1	0	OR2T33	246503343	0.000000	0.05858	0.260000	0.24451	0.044000	0.14063	-2.597000	0.00894	1.437000	0.47472	0.494000	0.49563	CTC		0.592	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695	
ARHGAP21	57584	broad.mit.edu	37	10	24874106	24874106	+	Silent	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr10:24874106G>A	ENST00000396432.2	-	26	5598	c.5112C>T	c.(5110-5112)tcC>tcT	p.S1704S		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1703	Interaction with CTNNA1.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						ATTTTTTCCTGGAAAGAGTAT	0.393																																						uc001isb.2																			0				ovary(7)|pancreas(1)	8						c.(5110-5112)TCC>TCT		Rho GTPase activating protein 21							27.0	28.0	28.0					10																	24874106		2164	4198	6362	SO:0001819	synonymous_variant	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24874106G>A	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.5112C>T	10.37:g.24874106G>A						ARHGAP21_uc010qdb.1_RNA	p.S1704S	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN			26	5599	-			1703			Interaction with CTNNA1.		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Silent	SNP	ENST00000396432.2	37	c.5112C>T	CCDS7144.2																																																																																				0.393	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824	
CUL2	8453	broad.mit.edu	37	10	35299303	35299303	+	Missense_Mutation	SNP	A	A	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr10:35299303A>T	ENST00000374748.1	-	22	2487	c.2174T>A	c.(2173-2175)cTg>cAg	p.L725Q	CUL2_ENST00000374746.1_Missense_Mutation_p.L686Q|CUL2_ENST00000374749.3_Missense_Mutation_p.L725Q|CUL2_ENST00000602371.1_Missense_Mutation_p.L668Q|CUL2_ENST00000374751.3_Missense_Mutation_p.L725Q|CUL2_ENST00000537177.1_Missense_Mutation_p.L744Q|CUL2_ENST00000374742.1_Missense_Mutation_p.L686Q			Q13617	CUL2_HUMAN	cullin 2	725					cell cycle arrest (GO:0007050)|cellular response to hypoxia (GO:0071456)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|VCB complex (GO:0030891)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						TTTGTCTATCAGAACTTCAAT	0.463																																						uc001ixv.2																			0				ovary(3)	3						c.(2173-2175)CTG>CAG		cullin 2							145.0	123.0	131.0					10																	35299303		2203	4300	6503	SO:0001583	missense	8453				cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr10:35299303A>T	U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.2174T>A	10.37:g.35299303A>T	ENSP00000363880:p.Leu725Gln					CUL2_uc009xma.2_Missense_Mutation_p.L594Q|CUL2_uc010qer.1_Missense_Mutation_p.L744Q|CUL2_uc001ixw.2_Missense_Mutation_p.L725Q	p.L725Q	NM_003591	NP_003582	Q13617	CUL2_HUMAN			21	2384	-			725					B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Missense_Mutation	SNP	ENST00000374748.1	37	c.2174T>A	CCDS7179.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.743073	0.89663	.	.	ENSG00000108094	ENST00000374751;ENST00000374748;ENST00000374746;ENST00000374749;ENST00000374754;ENST00000374742;ENST00000537177	D;D;T;D;T;D	0.90955	-2.71;-2.71;-1.37;-2.71;-1.37;-2.76	5.72	5.72	0.89469	Cullin protein, neddylation domain (2);Winged helix-turn-helix transcription repressor DNA-binding (1);Cullin, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97380	0.9143	H	0.98542	4.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99019	1.0817	10	0.87932	D	0	-3.886	16.0129	0.80417	1.0:0.0:0.0:0.0	.	744;725	G3V1S2;Q13617	.;CUL2_HUMAN	Q	725;725;686;725;668;686;744	ENSP00000363883:L725Q;ENSP00000363880:L725Q;ENSP00000363878:L686Q;ENSP00000363881:L725Q;ENSP00000363874:L686Q;ENSP00000444856:L744Q	ENSP00000363874:L686Q	L	-	2	0	CUL2	35339309	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	9.329000	0.96413	2.184000	0.69523	0.482000	0.46254	CTG		0.463	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047538.1	NM_003591	
ZNF37A	7587	broad.mit.edu	37	10	38404217	38404217	+	Splice_Site	SNP	G	G	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr10:38404217G>T	ENST00000361085.5	+	6	582	c.237G>T	c.(235-237)ctG>ctT	p.L79L	ZNF37A_ENST00000351773.3_Splice_Site_p.L79L|ZNF37A_ENST00000479469.1_3'UTR	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	79	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						AGAGTCATCTGGGTGAGTTAG	0.393																																						uc001izk.2																			0				breast(1)	1						c.(235-237)CTG>CTT		zinc finger protein 37a							61.0	55.0	57.0					10																	38404217		2203	4300	6503	SO:0001630	splice_region_variant	7587					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38404217G>T	X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"""Zinc fingers, C2H2-type"", ""-"""	13102	protein-coding gene	gene with protein product			"""zinc finger protein 37a (KOX 21)"""			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.238+1G>T	10.37:g.38404217G>T						ZNF37A_uc001izl.2_Silent_p.L79L|ZNF37A_uc001izm.2_Silent_p.L79L	p.L79L	NM_001007094	NP_001007095	P17032	ZN37A_HUMAN			7	1056	+			79			KRAB.		B3KRQ3|D3DRZ3|Q96B88	Silent	SNP	ENST00000361085.5	37	c.237G>T	CCDS31183.1																																																																																				0.393	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2	NM_003421	Silent
LRRC18	474354	broad.mit.edu	37	10	50121795	50121795	+	Missense_Mutation	SNP	C	C	T	rs138127999		TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr10:50121795C>T	ENST00000374160.3	-	1	482	c.406G>A	c.(406-408)Gtg>Atg	p.V136M	WDFY4_ENST00000413659.2_Intron|RP11-523O18.7_ENST00000430438.1_RNA|LRRC18_ENST00000298124.3_Missense_Mutation_p.V136M|WDFY4_ENST00000325239.5_Intron	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	136						cytoplasm (GO:0005737)				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GTGGTGGGCACGCTGTCCAGG	0.602													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19111	0.0		0.0	False		,,,				2504	0.0					uc001jhd.2																			0				ovary(1)|pancreas(1)	2						c.(406-408)GTG>ATG		leucine rich repeat containing 18		C	MET/VAL,	1,4405	2.1+/-5.4	0,1,2202	81.0	80.0	81.0		406,	5.0	1.0	10	dbSNP_134	81	1,8599	1.2+/-3.3	0,1,4299	yes	missense,intron	WDFY4,LRRC18	NM_001006939.3,NM_020945.1	21,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging,	136/262,	50121795	2,13004	2203	4300	6503	SO:0001583	missense	474354					cytoplasm		g.chr10:50121795C>T	AY358137	CCDS31197.1	10q11.23	2011-02-10			ENSG00000165383	ENSG00000165383			23199	protein-coding gene	gene with protein product							Standard	NM_001006939		Approved	UNQ933, MGC34773, UNQ9338, VKGE9338	uc001jhd.3	Q8N456	OTTHUMG00000018182	ENST00000374160.3:c.406G>A	10.37:g.50121795C>T	ENSP00000363275:p.Val136Met					WDFY4_uc001jha.3_Intron|LRRC18_uc001jhe.1_Missense_Mutation_p.V136M	p.V136M	NM_001006939	NP_001006940	Q8N456	LRC18_HUMAN			1	486	-			136			LRR 5.		Q6UY02	Missense_Mutation	SNP	ENST00000374160.3	37	c.406G>A	CCDS31197.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	16.39	3.110206	0.56398	2.27E-4	1.16E-4	ENSG00000165383	ENST00000374160;ENST00000298124	T;T	0.17054	2.3;2.3	5.98	4.98	0.66077	.	0.134780	0.51477	D	0.000086	T	0.21590	0.0520	M	0.76433	2.335	0.37955	D	0.93278	D	0.60160	0.987	P	0.46049	0.502	T	0.06180	-1.0841	9	.	.	.	.	5.1013	0.14760	0.0:0.437:0.4325:0.1306	.	136	Q8N456	LRC18_HUMAN	M	136	ENSP00000363275:V136M;ENSP00000298124:V136M	.	V	-	1	0	LRRC18	49791801	0.997000	0.39634	0.988000	0.46212	0.823000	0.46562	2.654000	0.46699	2.838000	0.97847	0.655000	0.94253	GTG		0.602	LRRC18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047964.1	NM_001006939	
CHAT	1103	broad.mit.edu	37	10	50870733	50870733	+	Missense_Mutation	SNP	C	C	T	rs116097791	byFrequency	TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr10:50870733C>T	ENST00000337653.2	+	14	2035	c.1882C>T	c.(1882-1884)Cgg>Tgg	p.R628W	CHAT_ENST00000351556.3_Missense_Mutation_p.R510W|CHAT_ENST00000395562.2_Missense_Mutation_p.R546W|CHAT_ENST00000339797.1_Missense_Mutation_p.R510W|CHAT_ENST00000455728.2_Missense_Mutation_p.R510W|CHAT_ENST00000395559.2_Missense_Mutation_p.R510W	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	628					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	GCTGGCACTGCGGGAGCTGGC	0.572																																						uc001jhz.2																			0				central_nervous_system(3)	3						c.(1882-1884)CGG>TGG		choline acetyltransferase isoform 2	Choline(DB00122)						121.0	116.0	118.0					10																	50870733		2203	4300	6503	SO:0001583	missense	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50870733C>T	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.1882C>T	10.37:g.50870733C>T	ENSP00000337103:p.Arg628Trp					CHAT_uc001jhv.1_Missense_Mutation_p.R510W|CHAT_uc001jhx.1_Missense_Mutation_p.R510W|CHAT_uc001jhy.1_Missense_Mutation_p.R510W|CHAT_uc001jia.2_Missense_Mutation_p.R510W|CHAT_uc010qgs.1_Missense_Mutation_p.R510W	p.R628W	NM_020549	NP_065574	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	14	2035	+		all_neural(218;0.107)	628					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	37	c.1882C>T	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.914746	0.52546	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	D;D;D;D;D;D	0.96774	-4.12;-4.12;-4.12;-4.12;-4.12;-4.12	5.56	0.259	0.15583	.	0.000000	0.85682	D	0.000000	D	0.97879	0.9303	M	0.83384	2.64	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.97957	1.0335	10	0.87932	D	0	-22.5315	16.7018	0.85351	0.5944:0.4056:0.0:0.0	.	510;628	F8W8I2;P28329	.;CLAT_HUMAN	W	510;510;510;628;546;510	ENSP00000343486:R510W;ENSP00000345878:R510W;ENSP00000378926:R510W;ENSP00000337103:R628W;ENSP00000378929:R546W;ENSP00000390521:R510W	ENSP00000337103:R628W	R	+	1	2	CHAT	50540739	0.996000	0.38824	0.997000	0.53966	0.392000	0.30506	1.636000	0.37144	0.144000	0.18951	-0.181000	0.13052	CGG		0.572	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549	
PTEN	5728	broad.mit.edu	37	10	89692829	89692829	+	Missense_Mutation	SNP	T	T	C			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr10:89692829T>C	ENST00000371953.3	+	5	1670	c.313T>C	c.(313-315)Tgt>Cgt	p.C105R		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	105	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		C -> F (in BRRS; loss of phosphatase activity towards Ins(1,3,4,5)P4).|C -> Y (in BRRS). {ECO:0000269|PubMed:10400993, ECO:0000269|PubMed:11494117}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.C105fs*2(1)|p.C105G(1)|p.C105R(1)|p.F56fs*2(1)|p.P103fs*3(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAAACCCTTTTGTGAAGATCT	0.378		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		54	Whole gene deletion(37)|Deletion - Frameshift(9)|Unknown(5)|Substitution - Missense(2)|Complex - frameshift(1)	p.C105F(6)|p.R55fs*1(4)|p.C105W(4)|p.C105S(3)|p.?(2)|p.Y27fs*1(2)|p.C105Y(2)|p.Y27_N212>Y(2)|p.C105fs*1(1)|p.C105fs*2(1)|p.C105G(1)|p.C105R(1)|p.F56fs*2(1)|p.P103fs*3(1)	prostate(16)|central_nervous_system(12)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|endometrium(3)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334						c.(313-315)TGT>CGT		phosphatase and tensin homolog							111.0	103.0	106.0					10																	89692829		2203	4297	6500	SO:0001583	missense	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692829T>C	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.313T>C	10.37:g.89692829T>C	ENSP00000361021:p.Cys105Arg	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.C105R	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1344	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	105		C -> F (in BZS; loss of phosphatase activity towards Ins(1,3,4,5)P4).|C -> Y (in BZS).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.313T>C	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.333130	0.81801	.	.	ENSG00000171862	ENST00000371953	D	0.85411	-1.98	5.07	5.07	0.68467	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93677	0.7980	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94957	0.8105	9	.	.	.	-9.9762	14.8407	0.70220	0.0:0.0:0.0:1.0	.	105	P60484	PTEN_HUMAN	R	105	ENSP00000361021:C105R	.	C	+	1	0	PTEN	89682809	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.658000	0.83755	1.880000	0.54463	0.533000	0.62120	TGT		0.378	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
OR5T3	390154	broad.mit.edu	37	11	56020589	56020589	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr11:56020589C>T	ENST00000303059.3	+	1	914	c.914C>T	c.(913-915)tCa>tTa	p.S305L		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					ATCATAGTGTCAATATTTTAC	0.368																																						uc010rjd.1																			0					0						c.(913-915)TCA>TTA		olfactory receptor, family 5, subfamily T,							110.0	101.0	104.0					11																	56020589		2201	4295	6496	SO:0001583	missense	390154				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56020589C>T	AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"""GPCR / Class A : Olfactory receptors"""	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.914C>T	11.37:g.56020589C>T	ENSP00000305403:p.Ser305Leu						p.S305L	NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN			1	914	+	Esophageal squamous(21;0.00448)		305			Helical; Name=7; (Potential).		Q6IFC7	Missense_Mutation	SNP	ENST00000303059.3	37	c.914C>T	CCDS31524.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.340572	0.81911	.	.	ENSG00000172489	ENST00000303059	T	0.00265	8.39	4.32	4.32	0.51571	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42548	D	0.000687	T	0.00754	0.0025	H	0.96576	3.845	0.36891	D	0.889887	P	0.40681	0.727	P	0.50825	0.651	T	0.39313	-0.9620	10	0.87932	D	0	.	17.3257	0.87246	0.0:1.0:0.0:0.0	.	305	Q8NGG3	OR5T3_HUMAN	L	305	ENSP00000305403:S305L	ENSP00000305403:S305L	S	+	2	0	OR5T3	55777165	0.037000	0.19845	0.929000	0.37066	0.924000	0.55760	3.196000	0.51020	2.385000	0.81259	0.643000	0.83706	TCA		0.368	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	NM_001004747	
ANO2	57101	broad.mit.edu	37	12	5724431	5724431	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr12:5724431G>A	ENST00000356134.5	-	19	1923	c.1852C>T	c.(1852-1854)Cgc>Tgc	p.R618C	ANO2_ENST00000546188.1_Missense_Mutation_p.R618C|ANO2_ENST00000327087.8_Missense_Mutation_p.R617C	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	622					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						AGGATCAGGCGCTCTTCAAAA	0.458																																						uc001qnm.2																			0				ovary(4)|large_intestine(2)|central_nervous_system(1)	7						c.(1849-1851)CGC>TGC		anoctamin 2							74.0	73.0	73.0					12																	5724431		1965	4170	6135	SO:0001583	missense	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5724431G>A	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.1852C>T	12.37:g.5724431G>A	ENSP00000348453:p.Arg618Cys						p.R617C	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN			18	1921	-			622			Cytoplasmic (Potential).		C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37	c.1849C>T		.	.	.	.	.	.	.	.	.	.	G	22.6	4.309119	0.81247	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277;ENST00000545860	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09	4.79	4.79	0.61399	.	0.102645	0.64402	D	0.000004	T	0.75766	0.3894	M	0.73319	2.225	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.77582	-0.2534	10	0.87932	D	0	.	10.7508	0.46209	0.0:0.0:0.8102:0.1898	.	617	Q9NQ90-3	.	C	617;618;618;622;177	ENSP00000314048:R617C;ENSP00000348453:R618C;ENSP00000440981:R618C;ENSP00000443813:R177C	ENSP00000314048:R617C	R	-	1	0	ANO2	5594692	0.866000	0.29940	1.000000	0.80357	0.989000	0.77384	1.095000	0.30964	2.659000	0.90383	0.650000	0.86243	CGC		0.458	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373	
LRRK2	120892	broad.mit.edu	37	12	40689281	40689281	+	Silent	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr12:40689281G>A	ENST00000298910.7	+	23	2989	c.2931G>A	c.(2929-2931)ctG>ctA	p.L977L	LRRK2_ENST00000343742.2_Silent_p.L977L	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	977					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTTCTTCTCTGGCTTCTGAGA	0.343																																						uc001rmg.3																			0				ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.(2929-2931)CTG>CTA		leucine-rich repeat kinase 2							71.0	72.0	72.0					12																	40689281		2203	4300	6503	SO:0001819	synonymous_variant	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40689281G>A	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.2931G>A	12.37:g.40689281G>A						LRRK2_uc001rmh.1_Silent_p.L599L|LRRK2_uc009zjw.2_5'UTR	p.L977L	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			23	3052	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	977					A6NJU2|Q6ZS50|Q8NCX9	Silent	SNP	ENST00000298910.7	37	c.2931G>A	CCDS31774.1																																																																																				0.343	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513	
LRRIQ1	84125	broad.mit.edu	37	12	85460676	85460676	+	Splice_Site	SNP	G	G	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr12:85460676G>T	ENST00000393217.2	+	10	2756	c.2695G>T	c.(2695-2697)Gga>Tga	p.G899*		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	899										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TACTCGAATTGGTAAGAACAA	0.274																																						uc001tac.2																			0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(2695-2697)GGA>TGA		leucine-rich repeats and IQ motif containing 1							33.0	34.0	34.0					12																	85460676		2195	4285	6480	SO:0001630	splice_region_variant	84125							g.chr12:85460676G>T	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.2695+1G>T	12.37:g.85460676G>T						LRRIQ1_uc001tab.1_Nonsense_Mutation_p.G899*	p.G899*	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	10	2806	+			899			LRR 4.		Q567P4|Q9BS17|Q9HA36	Nonsense_Mutation	SNP	ENST00000393217.2	37	c.2695G>T	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	G	38	7.065241	0.98040	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	.	.	.	5.44	4.54	0.55810	.	0.155857	0.41823	U	0.000804	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	13.5414	0.61676	0.0763:0.0:0.9237:0.0	.	.	.	.	X	899;874;899	.	ENSP00000256007:G899X	G	+	1	0	LRRIQ1	83984807	1.000000	0.71417	1.000000	0.80357	0.379000	0.30106	4.234000	0.58658	1.409000	0.46915	0.563000	0.77884	GGA		0.274	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165	Nonsense_Mutation
CHD8	57680	broad.mit.edu	37	14	21860669	21860673	+	Frame_Shift_Del	DEL	TTTGA	TTTGA	-			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr14:21860669_21860673delTTTGA	ENST00000557364.1	-	34	7027_7031	c.6764_6768delTCAAA	c.(6763-6768)atcaaafs	p.IK2255fs	CHD8_ENST00000399982.2_Frame_Shift_Del_p.IK2255fs|SNORD9_ENST00000362566.1_RNA|CHD8_ENST00000555962.1_5'Flank|CHD8_ENST00000430710.3_Frame_Shift_Del_p.IK1976fs			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2255					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AGCTTACATCTTTGATTTGAACTGT	0.468																																						uc001was.1																			0				ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10						c.(5926-5931)ATCAAAfs		chromodomain helicase DNA binding protein 8																																				SO:0001589	frameshift_variant	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21860669_21860673delTTTGA	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.6764_6768delTCAAA	14.37:g.21860674_21860678delTTTGA	ENSP00000451601:p.Ile2255fs					CHD8_uc001war.1_Frame_Shift_Del_p.I1872fs|SNORD9_uc001wat.1_5'Flank	p.I1976fs	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	34	6021_6025	-	all_cancers(95;0.00121)		2255_2256					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Frame_Shift_Del	DEL	ENST00000557364.1	37	c.5927_5931delTCAAA	CCDS53885.1																																																																																				0.468	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920	
MYH6	4624	broad.mit.edu	37	14	23869930	23869930	+	Silent	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr14:23869930G>A	ENST00000356287.3	-	12	1427	c.1398C>T	c.(1396-1398)ttC>ttT	p.F466F	MYH6_ENST00000405093.3_Silent_p.F466F			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	466	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CGAAGATCTCGAAGCCAGCGA	0.552																																						uc001wjv.2																			0				pancreas(2)|ovary(1)|skin(1)	4						c.(1396-1398)TTC>TTT		myosin heavy chain 6							91.0	79.0	83.0					14																	23869930		2203	4300	6503	SO:0001819	synonymous_variant	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23869930G>A	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.1398C>T	14.37:g.23869930G>A						MYH6_uc010akp.1_Silent_p.F466F	p.F466F	NM_002471	NP_002462	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	13	1465	-	all_cancers(95;2.54e-05)		466			Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Silent	SNP	ENST00000356287.3	37	c.1398C>T	CCDS9600.1																																																																																				0.552	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3		
DICER1	23405	broad.mit.edu	37	14	95569923	95569923	+	Silent	SNP	C	C	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr14:95569923C>T	ENST00000526495.1	-	23	4101	c.3810G>A	c.(3808-3810)gtG>gtA	p.V1270V	DICER1_ENST00000527414.1_Silent_p.V1270V|DICER1_ENST00000343455.3_Silent_p.V1270V|DICER1_ENST00000393063.1_Silent_p.V1270V|DICER1_ENST00000556045.1_Silent_p.V168V|DICER1_ENST00000541352.1_Silent_p.V1270V			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1270					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TGCCCTTGAGCACTTGAATAG	0.468			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													uc001ydw.2			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	Mis F|N	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma			0				skin(2)|ovary(1)|pancreas(1)|lung(1)	5						c.(3808-3810)GTG>GTA		dicer1							135.0	123.0	127.0					14																	95569923		2203	4300	6503	SO:0001819	synonymous_variant	23405	DICER_1_syndrome_|Familial_Multinodular_Goiter_	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95569923C>T	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.3810G>A	14.37:g.95569923C>T						DICER1_uc010avh.1_Silent_p.V168V|DICER1_uc001ydv.2_Silent_p.V1260V|DICER1_uc001ydx.2_Silent_p.V1270V|DICER1_uc001ydy.1_Silent_p.V122V	p.V1270V	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	22	3992	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	1270					A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Silent	SNP	ENST00000526495.1	37	c.3810G>A	CCDS9931.1																																																																																				0.468	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1		
OR4N3P	390539	broad.mit.edu	37	15	22413748	22413748	+	IGR	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr15:22413748G>A								RP11-69H14.6 (29940 upstream) : RP11-2F9.4 (20141 downstream)																							TCCTACAGAGGCTGCATCACT	0.517																																						uc001yuf.2																			0					0						c.(46-48)GGC>GAC		RecName: Full=Olfactory receptor 4N2; AltName: Full=Olfactory receptor OR14-8; AltName: Full=Olfactory receptor OR14-13;																																				SO:0001628	intergenic_variant	390539							g.chr15:22413748G>A																													15.37:g.22413748G>A							p.G16D	NM_001080841	NP_001074310					1	47	+									Missense_Mutation	SNP		37	c.47G>A																																																																																				0	0.517								
RYR3	6263	broad.mit.edu	37	15	33895352	33895352	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr15:33895352G>A	ENST00000389232.4	+	18	2021	c.1951G>A	c.(1951-1953)Gcg>Acg	p.A651T	RYR3_ENST00000415757.3_Missense_Mutation_p.A651T	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	651	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCTGGGAGTCGCGGAGGGCTC	0.527																																						uc001zhi.2																			0				ovary(5)|central_nervous_system(4)|lung(1)	10						c.(1951-1953)GCG>ACG		ryanodine receptor 3							87.0	93.0	91.0					15																	33895352		2017	4173	6190	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33895352G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.1951G>A	15.37:g.33895352G>A	ENSP00000373884:p.Ala651Thr					RYR3_uc010bar.2_Missense_Mutation_p.A651T	p.A651T	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	18	2021	+		all_lung(180;7.18e-09)	651			Cytoplasmic (By similarity).|B30.2/SPRY 1.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.1951G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.037713	0.54896	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.96587	-4.06;-4.06	5.46	5.46	0.80206	B30.2/SPRY domain (1);	0.298104	0.32343	N	0.006234	D	0.92782	0.7705	L	0.47716	1.5	0.33544	D	0.595201	P;P	0.47841	0.901;0.84	B;B	0.34418	0.182;0.089	D	0.95362	0.8456	10	0.49607	T	0.09	.	14.4052	0.67079	0.0:0.0:0.8526:0.1474	.	651;651	Q15413-2;Q15413	.;RYR3_HUMAN	T	651	ENSP00000373884:A651T;ENSP00000399610:A651T	ENSP00000354735:A651T	A	+	1	0	RYR3	31682644	0.996000	0.38824	0.983000	0.44433	0.910000	0.53928	2.532000	0.45659	2.846000	0.97976	0.644000	0.83932	GCG		0.527	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
MFAP1	4236	broad.mit.edu	37	15	44105497	44105497	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr15:44105497C>G	ENST00000267812.3	-	5	908	c.676G>C	c.(676-678)Gag>Cag	p.E226Q		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	226					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		GCTTCCTGCTCCAGCTCCTTC	0.483																																						uc001zth.1																			0				skin(1)	1						c.(676-678)GAG>CAG		microfibrillar-associated protein 1							361.0	304.0	323.0					15																	44105497		2198	4298	6496	SO:0001583	missense	4236					microfibril		g.chr15:44105497C>G		CCDS10105.1	15q15-q21	2014-05-20			ENSG00000140259	ENSG00000140259			7032	protein-coding gene	gene with protein product		600215				7835894	Standard	NM_005926		Approved		uc001zth.1	P55081	OTTHUMG00000060145	ENST00000267812.3:c.676G>C	15.37:g.44105497C>G	ENSP00000267812:p.Glu226Gln						p.E226Q	NM_005926	NP_005917	P55081	MFAP1_HUMAN		GBM - Glioblastoma multiforme(94;4.33e-07)	5	860	-		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	226					Q86TG6	Missense_Mutation	SNP	ENST00000267812.3	37	c.676G>C	CCDS10105.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.045385	0.93685	.	.	ENSG00000140259	ENST00000267812	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.79003	0.4373	M	0.80508	2.5	0.80722	D	1	D	0.59767	0.986	P	0.60117	0.869	T	0.77749	-0.2471	9	0.42905	T	0.14	-20.1432	19.9085	0.97016	0.0:1.0:0.0:0.0	.	226	P55081	MFAP1_HUMAN	Q	226	.	ENSP00000267812:E226Q	E	-	1	0	MFAP1	41892789	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.356000	0.79445	2.873000	0.98535	0.563000	0.77884	GAG		0.483	MFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133491.2	NM_005926	
JMJD8	339123	broad.mit.edu	37	16	731823	731823	+	3'UTR	SNP	G	G	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr16:731823G>T	ENST00000293882.4	-	0	1975				STUB1_ENST00000564370.1_Missense_Mutation_p.E113D|STUB1_ENST00000219548.4_Missense_Mutation_p.E185D|JMJD8_ENST00000609261.1_3'UTR|STUB1_ENST00000566181.2_3'UTR|STUB1_ENST00000565677.1_Missense_Mutation_p.E113D|LA16c-313D11.9_ENST00000567091.1_RNA|LA16c-313D11.9_ENST00000571933.1_RNA|JMJD8_ENST00000454700.1_3'UTR|JMJD8_ENST00000412368.2_3'UTR			Q96S16	JMJD8_HUMAN	jumonji domain containing 8							extracellular vesicular exosome (GO:0070062)				breast(1)	1						GAAACCACGAGGGTGATGAGG	0.637																																						uc002cit.2																			0					0						c.(553-555)GAG>GAT		STIP1 homology and U-box containing protein 1							40.0	41.0	41.0					16																	731823		2199	4300	6499	SO:0001624	3_prime_UTR_variant	10273				cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex	Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity	g.chr16:731823G>T		CCDS45369.1	16p13.3	2008-07-28	2008-07-28	2008-07-28		ENSG00000161999			14148	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 20"""	C16orf20			Standard	NM_001005920		Approved		uc002ciw.1	Q96S16		ENST00000293882.4:c.*971C>A	16.37:g.731823G>T						STUB1_uc002ciu.2_Missense_Mutation_p.E113D|STUB1_uc010bqz.2_RNA|STUB1_uc002civ.2_RNA|JMJD8_uc002ciw.1_3'UTR|JMJD8_uc002cix.1_3'UTR|JMJD8_uc002ciy.1_3'UTR	p.E185D	NM_005861	NP_005852	Q9UNE7	CHIP_HUMAN			4	966	+		Hepatocellular(780;0.00335)	185					B2RNS7|D3DU58|Q4PKE3|Q4VBY1|Q6GMW5|Q71RB8	Missense_Mutation	SNP	ENST00000293882.4	37	c.555G>T		.	.	.	.	.	.	.	.	.	.	G	6.834	0.523035	0.13066	.	.	ENSG00000103266	ENST00000219548	T	0.15017	2.46	4.15	0.652	0.17823	.	0.113372	0.38959	N	0.001514	T	0.07098	0.0180	N	0.11000	0.08	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35226	-0.9797	10	0.15066	T	0.55	-30.1746	8.0509	0.30577	0.4015:0.0:0.5985:0.0	.	185	Q9UNE7	CHIP_HUMAN	D	185	ENSP00000219548:E185D	ENSP00000219548:E185D	E	+	3	2	STUB1	671824	0.975000	0.34042	0.994000	0.49952	0.731000	0.41821	0.020000	0.13466	0.070000	0.16634	0.549000	0.68633	GAG		0.637	JMJD8-201	KNOWN	basic	protein_coding	protein_coding		NM_001005920	
SEC14L5	9717	broad.mit.edu	37	16	5053502	5053502	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr16:5053502C>A	ENST00000251170.7	+	11	1410	c.1230C>A	c.(1228-1230)gaC>gaA	p.D410E		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	410	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						TGGTTGAGGACAATTACCCAG	0.647																																						uc002cye.2																			0					0						c.(1228-1230)GAC>GAA		SEC14-like 5							44.0	51.0	49.0					16																	5053502		1936	4161	6097	SO:0001583	missense	9717					integral to membrane|intracellular	transporter activity	g.chr16:5053502C>A	AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.1230C>A	16.37:g.5053502C>A	ENSP00000251170:p.Asp410Glu						p.D410E	NM_014692	NP_055507	O43304	S14L5_HUMAN			11	1410	+			410			CRAL-TRIO.			Missense_Mutation	SNP	ENST00000251170.7	37	c.1230C>A	CCDS45403.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.556487	0.27827	.	.	ENSG00000103184	ENST00000251170	T	0.75589	-0.95	4.5	4.5	0.54988	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.342957	0.26684	N	0.023039	T	0.58779	0.2146	N	0.16567	0.415	0.38465	D	0.947324	B	0.27264	0.173	B	0.35770	0.21	T	0.54728	-0.8250	10	0.10111	T	0.7	-15.4065	10.955	0.47351	0.0:0.9141:0.0:0.0859	.	410	O43304	S14L5_HUMAN	E	410	ENSP00000251170:D410E	ENSP00000251170:D410E	D	+	3	2	SEC14L5	4993503	0.997000	0.39634	1.000000	0.80357	0.670000	0.39368	0.563000	0.23547	2.341000	0.79615	0.555000	0.69702	GAC		0.647	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1		
SMG1	23049	broad.mit.edu	37	16	18875017	18875018	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr16:18875017_18875018delGT	ENST00000446231.2	-	25	4061_4062	c.3649_3650delAC	c.(3649-3651)accfs	p.T1217fs	SMG1_ENST00000389467.3_Frame_Shift_Del_p.T1217fs			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1217	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						AGTGCTACTGGTACTCTTTTTC	0.366																																						uc002dfm.2																			0				breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						c.(3649-3651)ACCfs		PI-3-kinase-related kinase SMG-1																																				SO:0001589	frameshift_variant	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18875017_18875018delGT	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.3649_3650delAC	16.37:g.18875017_18875018delGT	ENSP00000402515:p.Thr1217fs					SMG1_uc010bwb.2_Frame_Shift_Del_p.T1077fs	p.T1217fs	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN			25	4012_4013	-			1217			FAT.|Interaction with SMG8 and SMG9.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Frame_Shift_Del	DEL	ENST00000446231.2	37	c.3649_3650delAC	CCDS45430.1																																																																																				0.366	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092	
IL4R	3566	broad.mit.edu	37	16	27363906	27363906	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr16:27363906G>A	ENST00000395762.2	+	7	818	c.559G>A	c.(559-561)Gca>Aca	p.A187T	IL4R_ENST00000449195.1_Missense_Mutation_p.A187T|IL4R_ENST00000170630.2_Missense_Mutation_p.A187T|IL4R_ENST00000543915.2_Missense_Mutation_p.A187T|IL4R_ENST00000380922.3_Missense_Mutation_p.A172T	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	187	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CCTCCGCATCGCAGCCAGCAC	0.592																																						uc002don.2																			0				ovary(1)|skin(1)	2						c.(559-561)GCA>ACA		interleukin 4 receptor alpha chain isoform a							101.0	96.0	98.0					16																	27363906		2197	4300	6497	SO:0001583	missense	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27363906G>A	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.559G>A	16.37:g.27363906G>A	ENSP00000379111:p.Ala187Thr					IL4R_uc002dom.2_Missense_Mutation_p.A187T|IL4R_uc002dop.3_Missense_Mutation_p.A172T|IL4R_uc010bxy.2_Missense_Mutation_p.A187T|IL4R_uc002doo.2_Missense_Mutation_p.A27T	p.A187T	NM_000418	NP_000409	P24394	IL4RA_HUMAN			7	801	+			187			Extracellular (Potential).|Fibronectin type-III.		B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	ENST00000395762.2	37	c.559G>A	CCDS10629.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.477986	0.01035	.	.	ENSG00000077238	ENST00000380925;ENST00000449195;ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12	3.37	-6.74	0.01743	Fibronectin, type III (3);Immunoglobulin-like fold (1);	16.885200	0.00166	N	0.000000	T	0.41627	0.1167	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.17852	0.019;0.024;0.024;0.009	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.46414	-0.9193	10	0.07990	T	0.79	-14.9963	7.9007	0.29734	0.1468:0.5523:0.2132:0.0877	.	172;187;187;187	B4E076;B9EGC0;P24394;P24394-2	.;.;IL4RA_HUMAN;.	T	187;187;187;187;172;187	ENSP00000410322:A187T;ENSP00000379111:A187T;ENSP00000441667:A187T;ENSP00000370309:A172T;ENSP00000170630:A187T	ENSP00000170630:A187T	A	+	1	0	IL4R	27271407	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-2.128000	0.01314	-3.824000	0.00102	-2.590000	0.00165	GCA		0.592	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4		
MT1E	4493	broad.mit.edu	37	16	56660826	56660826	+	Silent	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr16:56660826G>A	ENST00000306061.6	+	3	506	c.129G>A	c.(127-129)aaG>aaA	p.K43K	MT1E_ENST00000568293.1_Silent_p.K21K|MT1E_ENST00000330439.6_3'UTR	NM_175617.3	NP_783316.2	P04732	MT1E_HUMAN	metallothionein 1E	43	Alpha.				cellular response to cadmium ion (GO:0071276)|cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)										GCTGTGCCAAGTGTGCCCAGG	0.597																																						uc002ejl.2																			0					0						c.(127-129)AAG>AAA		metallothionein 1E							142.0	135.0	138.0					16																	56660826		2198	4300	6498	SO:0001819	synonymous_variant	4493					cytoplasm	cadmium ion binding|copper ion binding|zinc ion binding	g.chr16:56660826G>A	BC009699	CCDS10764.2	16q13	2008-08-11	2007-03-02		ENSG00000169715	ENSG00000169715		"""Metallothioneins"""	7397	protein-coding gene	gene with protein product		156351		MT1		6089206, 2581970	Standard	XM_005255956		Approved	MTD	uc002ejl.3	P04732	OTTHUMG00000133014	ENST00000306061.6:c.129G>A	16.37:g.56660826G>A						MT1A_uc002eji.2_Intron|MT1M_uc010vhe.1_Intron|MT1E_uc002ejm.2_3'UTR	p.K43K	NM_175617	NP_783316	P04732	MT1E_HUMAN			3	308	+			43			Alpha.		A2RRF7|Q86YX4|Q8TD51	Silent	SNP	ENST00000306061.6	37	c.129G>A	CCDS10764.2																																																																																				0.597	MT1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256600.1	NM_175617	
SETD6	79918	broad.mit.edu	37	16	58552049	58552049	+	Missense_Mutation	SNP	T	T	C			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr16:58552049T>C	ENST00000219315.4	+	6	937	c.887T>C	c.(886-888)aTg>aCg	p.M296T	SETD6_ENST00000394266.4_Missense_Mutation_p.M227T|SETD6_ENST00000310682.2_Missense_Mutation_p.M272T|SETD6_ENST00000418480.1_Intron			Q8TBK2	SETD6_HUMAN	SET domain containing 6	296					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|peptidyl-lysine monomethylation (GO:0018026)|regulation of inflammatory response (GO:0050727)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)|protein-lysine N-methyltransferase activity (GO:0016279)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						CTGATTCATATGTACGGTTTT	0.448																																						uc002ens.2																			0				ovary(1)	1						c.(886-888)ATG>ACG		SET domain containing 6 isoform a							166.0	135.0	146.0					16																	58552049		2198	4300	6498	SO:0001583	missense	79918				negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response	nucleus	NF-kappaB binding|protein-lysine N-methyltransferase activity	g.chr16:58552049T>C	AK024801	CCDS10798.1, CCDS54013.1	16q21	2008-02-05			ENSG00000103037	ENSG00000103037			26116	protein-coding gene	gene with protein product						12477932	Standard	NM_024860		Approved	FLJ21148	uc002ens.3	Q8TBK2	OTTHUMG00000150276	ENST00000219315.4:c.887T>C	16.37:g.58552049T>C	ENSP00000219315:p.Met296Thr					SETD6_uc002enr.2_Missense_Mutation_p.M272T|SETD6_uc010cdm.2_RNA	p.M296T	NM_001160305	NP_001153777	Q8TBK2	SETD6_HUMAN			6	946	+			296					A8K380|B5ME38|Q9H787	Missense_Mutation	SNP	ENST00000219315.4	37	c.887T>C	CCDS54013.1	.	.	.	.	.	.	.	.	.	.	T	18.40	3.615567	0.66672	.	.	ENSG00000103037	ENST00000310682;ENST00000394266;ENST00000219315	T;T;T	0.12984	2.63;2.63;2.63	5.72	5.72	0.89469	Rubisco LS methyltransferase, substrate-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.31513	0.0799	M	0.66939	2.045	0.80722	D	1	P;D	0.60160	0.916;0.987	B;D	0.64144	0.407;0.922	T	0.04961	-1.0915	10	0.17369	T	0.5	-15.2001	15.1896	0.73032	0.0:0.0:0.0:1.0	.	296;272	Q8TBK2;Q8TBK2-2	SETD6_HUMAN;.	T	272;227;296	ENSP00000310082:M272T;ENSP00000377809:M227T;ENSP00000219315:M296T	ENSP00000219315:M296T	M	+	2	0	SETD6	57109550	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.526000	0.81920	2.172000	0.68678	0.528000	0.53228	ATG		0.448	SETD6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317274.2	NM_024860	
ATP6V0D1	9114	broad.mit.edu	37	16	67477049	67477049	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr16:67477049C>T	ENST00000290949.3	-	4	664	c.514G>A	c.(514-516)Gac>Aac	p.D172N	ATP6V0D1_ENST00000602876.1_Missense_Mutation_p.D95N|ATP6V0D1_ENST00000540149.1_Missense_Mutation_p.D213N|ATP6V0D1_ENST00000567694.1_5'Flank	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1	172					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP hydrolysis coupled proton transport (GO:0015991)|brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|cellular protein metabolic process (GO:0044267)|cilium assembly (GO:0042384)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|synaptic vesicle (GO:0008021)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)			large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		TCGTCAAGGTCCTGCTCTGAA	0.562																																						uc002ete.1																			0					0						c.(514-516)GAC>AAC		ATPase, H+ transporting, lysosomal, V0 subunit							157.0	143.0	148.0					16																	67477049		2198	4300	6498	SO:0001583	missense	9114				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex		g.chr16:67477049C>T	X71490	CCDS10838.1	16q22	2010-04-21	2006-01-20	2002-05-10	ENSG00000159720	ENSG00000159720		"""ATPases / V-type"""	13724	protein-coding gene	gene with protein product		607028	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), member D"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 1"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D1"""	ATP6D		8250920	Standard	NM_004691		Approved	ATP6DV, VATX, VPATPD, P39, Vma6	uc002ete.1	P61421	OTTHUMG00000137515	ENST00000290949.3:c.514G>A	16.37:g.67477049C>T	ENSP00000290949:p.Asp172Asn					ATP6V0D1_uc010vjo.1_Missense_Mutation_p.D213N|ATP6V0D1_uc010vjn.1_Missense_Mutation_p.D95N	p.D172N	NM_004691	NP_004682	P61421	VA0D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)	4	614	-		Ovarian(137;0.0563)	172					P12953|Q02547	Missense_Mutation	SNP	ENST00000290949.3	37	c.514G>A	CCDS10838.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.322747	0.81580	.	.	ENSG00000159720	ENST00000290949;ENST00000426604;ENST00000540149	T;T	0.33654	1.4;1.4	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.67979	0.2951	M	0.90595	3.13	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.78314	0.991;0.989	T	0.72600	-0.4244	10	0.49607	T	0.09	-34.6226	18.0989	0.89499	0.0:1.0:0.0:0.0	.	213;172	F5GYQ1;P61421	.;VA0D1_HUMAN	N	172;95;213	ENSP00000290949:D172N;ENSP00000441282:D213N	ENSP00000290949:D172N	D	-	1	0	ATP6V0D1	66034550	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.096000	0.71446	2.640000	0.89533	0.655000	0.94253	GAC		0.562	ATP6V0D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268835.1	NM_004691	
CDH1	999	broad.mit.edu	37	16	68855965	68855965	+	Silent	SNP	C	C	T	rs373719554		TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr16:68855965C>T	ENST00000261769.5	+	12	1964	c.1773C>T	c.(1771-1773)aaC>aaT	p.N591N	RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000422392.2_Silent_p.N530N|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	591	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		TGAATGACAACGCCCCCATAC	0.458			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				c|||	1	0.000199681	0.0008	0.0	5008	,	,		21210	0.0		0.0	False		,,,				2504	0.0					uc002ewg.1			yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	Mis|N|F|S	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""			E		gastric	lobular breast|gastric		0				breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243						c.(1771-1773)AAC>AAT		cadherin 1, type 1 preproprotein							134.0	122.0	126.0					16																	68855965		2198	4300	6498	SO:0001819	synonymous_variant	999	Hereditary_Diffuse_Gastric_Cancer	Familial Cancer Database	HDGC	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	g.chr16:68855965C>T	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.1773C>T	16.37:g.68855965C>T						CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Silent_p.N530N	p.N591N	NM_004360	NP_004351	P12830	CADH1_HUMAN		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)	12	1897	+		all_neural(199;0.0189)|Ovarian(137;0.0563)	591			Extracellular (Potential).|Cadherin 4.		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Silent	SNP	ENST00000261769.5	37	c.1773C>T	CCDS10869.1																																																																																				0.458	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360	
DNAH2	146754	broad.mit.edu	37	17	7663139	7663139	+	Missense_Mutation	SNP	G	G	A	rs112194246		TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr17:7663139G>A	ENST00000572933.1	+	17	4128	c.2668G>A	c.(2668-2670)Gca>Aca	p.A890T	DNAH2_ENST00000389173.2_Missense_Mutation_p.A890T			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	890	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GCAGACTTTGGCAGGTGTGGT	0.522																																						uc002giu.1																			0				ovary(6)|skin(6)|central_nervous_system(1)	13						c.(2668-2670)GCA>ACA		dynein heavy chain domain 3							240.0	214.0	223.0					17																	7663139		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7663139G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.2668G>A	17.37:g.7663139G>A	ENSP00000458355:p.Ala890Thr						p.A890T	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			16	2682	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	890			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.2668G>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.075764	0.36662	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.22945	1.93	5.35	5.35	0.76521	.	0.231776	0.34484	N	0.003931	T	0.19725	0.0474	L	0.34521	1.04	0.80722	D	1	B	0.06786	0.001	B	0.17098	0.017	T	0.05852	-1.0860	10	0.18276	T	0.48	.	12.8786	0.58003	0.0:0.0:0.837:0.163	.	890	Q9P225	DYH2_HUMAN	T	890	ENSP00000373825:A890T	ENSP00000353818:A890T	A	+	1	0	DNAH2	7603864	1.000000	0.71417	0.998000	0.56505	0.803000	0.45373	6.085000	0.71343	2.519000	0.84933	0.491000	0.48974	GCA		0.522	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	
ZNF624	57547	broad.mit.edu	37	17	16526500	16526500	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr17:16526500C>T	ENST00000311331.7	-	6	1791	c.1700G>A	c.(1699-1701)cGt>cAt	p.R567H		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	567					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		AGAAGAAGAACGCATGAAGGC	0.368																																					NSCLC(186;1023 2134 13330 38202 39800)	uc010cpi.1																			0				large_intestine(1)|ovary(1)	2						c.(1699-1701)CGT>CAT		zinc finger protein 624							100.0	107.0	105.0					17																	16526500		2203	4300	6503	SO:0001583	missense	57547				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:16526500C>T	AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"""Zinc fingers, C2H2-type"", ""-"""	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.1700G>A	17.37:g.16526500C>T	ENSP00000310472:p.Arg567His						p.R567H	NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	6	1783	-			567			C2H2-type 11.		Q3SY62|Q3SY63|Q6ZN27	Missense_Mutation	SNP	ENST00000311331.7	37	c.1700G>A	CCDS11180.1	.	.	.	.	.	.	.	.	.	.	C	7.746	0.702264	0.15172	.	.	ENSG00000197566	ENST00000311331	T	0.05580	3.42	2.88	2.88	0.33553	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03305	0.0096	N	0.25647	0.755	0.22926	N	0.998556	P	0.44241	0.829	B	0.21360	0.034	T	0.40608	-0.9554	9	0.16420	T	0.52	.	11.985	0.53142	0.0:1.0:0.0:0.0	.	567	Q9P2J8	ZN624_HUMAN	H	567	ENSP00000310472:R567H	ENSP00000310472:R567H	R	-	2	0	ZNF624	16467225	0.000000	0.05858	1.000000	0.80357	0.989000	0.77384	-0.734000	0.04893	1.907000	0.55213	0.561000	0.74099	CGT		0.368	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3	XM_047617	
RAD51C	5889	broad.mit.edu	37	17	56772380	56772380	+	Silent	SNP	A	A	G			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr17:56772380A>G	ENST00000337432.4	+	2	305	c.234A>G	c.(232-234)acA>acG	p.T78T	TEX14_ENST00000389934.3_5'Flank|RAD51C_ENST00000487921.1_3'UTR|RAD51C_ENST00000421782.2_Silent_p.T78T|RAD51C_ENST00000583539.1_Silent_p.T78T|TEX14_ENST00000349033.5_5'Flank|TEX14_ENST00000240361.8_5'Flank	NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C	78	Required for Holliday junction resolution activity.				blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|female meiosis sister chromatid cohesion (GO:0007066)|male meiosis I (GO:0007141)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)|sister chromatid cohesion (GO:0007062)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|Rad51C-XRCC3 complex (GO:0033065)|replication fork (GO:0005657)	ATP binding (GO:0005524)|crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATGCTGGTACATCTGAGTCAC	0.398								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2																													uc002iwu.2																			0					0						c.(232-234)ACA>ACG	Homologous_recombination	RAD51 homolog C isoform 1							101.0	98.0	99.0					17																	56772380		2203	4300	6503	SO:0001819	synonymous_variant	5889	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2	Familial Cancer Database	BRCAX	blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr17:56772380A>G	AF029670	CCDS11611.1, CCDS45745.1	17q25.1	2014-09-17	2013-07-02		ENSG00000108384	ENSG00000108384		"""Fanconi anemia, complementation groups"""	9820	protein-coding gene	gene with protein product		602774	"""RAD51 (S. cerevisiae) homolog C"", ""RAD51 homolog C (S. cerevisiae)"""			9469824, 22167183	Standard	NM_058216		Approved	RAD51L2, FANCO	uc002iwu.3	O43502	OTTHUMG00000141292	ENST00000337432.4:c.234A>G	17.37:g.56772380A>G						TEX14_uc002iwr.1_5'Flank|TEX14_uc002iws.1_5'Flank|TEX14_uc010dcz.1_5'Flank|TEX14_uc010dda.1_5'Flank|TEX14_uc010wnz.1_5'Flank|RAD51C_uc002iwt.1_Silent_p.T78T|RAD51C_uc010woa.1_Silent_p.T78T|RAD51C_uc010ddc.2_RNA|RAD51C_uc002iwv.2_RNA|RAD51C_uc002iww.2_RNA|RAD51C_uc010wob.1_RNA	p.T78T	NM_058216	NP_478123	O43502	RA51C_HUMAN			2	276	+	Medulloblastoma(34;0.127)|all_neural(34;0.237)		78					O43503|Q3B783	Silent	SNP	ENST00000337432.4	37	c.234A>G	CCDS11611.1																																																																																				0.398	RAD51C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280540.2	NM_058216	
ACE	1636	broad.mit.edu	37	17	61554654	61554654	+	Frame_Shift_Del	DEL	G	G	-			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr17:61554654delG	ENST00000290866.4	+	1	223	c.199delG	c.(199-201)gccfs	p.A67fs	ACE_ENST00000538928.1_Frame_Shift_Del_p.A67fs|ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Frame_Shift_Del_p.A67fs	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	67	Peptidase M2 1.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GAGCGTGGCCGCCAGCTGGGC	0.726																																						uc002jau.1																			0				ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(199-201)GCCfs		angiotensin I converting enzyme 1 isoform 1	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)						5.0	4.0	5.0					17																	61554654		2013	3983	5996	SO:0001589	frameshift_variant	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61554654delG	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.199delG	17.37:g.61554654delG	ENSP00000290866:p.Ala67fs					ACE_uc010wph.1_Frame_Shift_Del_p.A67fs|ACE_uc010wpi.1_Frame_Shift_Del_p.A67fs|ACE_uc010ddu.1_5'UTR	p.A67fs	NM_000789	NP_000780	P12821	ACE_HUMAN			1	221	+			67			Extracellular (Potential).|Peptidase M2 1.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Frame_Shift_Del	DEL	ENST00000290866.4	37	c.199delG	CCDS11637.1																																																																																				0.726	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2		
CTDP1	9150	broad.mit.edu	37	18	77457977	77457977	+	Missense_Mutation	SNP	A	A	G			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr18:77457977A>G	ENST00000299543.7	+	4	757	c.610A>G	c.(610-612)Atg>Gtg	p.M204V	CTDP1_ENST00000075430.7_Missense_Mutation_p.M204V	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	204	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.				exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CTGTCAGCAGATGTCGAATAA	0.493																																						uc002lnh.1																			0					0						c.(610-612)ATG>GTG		CTD (carboxy-terminal domain, RNA polymerase II,							93.0	80.0	84.0					18																	77457977		2203	4300	6503	SO:0001583	missense	9150				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity	g.chr18:77457977A>G	AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.610A>G	18.37:g.77457977A>G	ENSP00000299543:p.Met204Val					CTDP1_uc002lni.1_Missense_Mutation_p.M204V|CTDP1_uc010drd.1_Missense_Mutation_p.M204V	p.M204V	NM_004715	NP_004706	Q9Y5B0	CTDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)	4	757	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	204			FCP1 homology.		A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Missense_Mutation	SNP	ENST00000299543.7	37	c.610A>G	CCDS12017.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.124987	0.77436	.	.	ENSG00000060069	ENST00000299543;ENST00000075430	T;T	0.16073	2.37;2.37	4.91	4.91	0.64330	NLI interacting factor (3);FCP1-like phosphatase, phosphatase domain (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.30792	0.0776	L	0.31845	0.965	0.80722	D	1	D;D;D	0.69078	0.996;0.996;0.997	D;D;D	0.80764	0.99;0.99;0.994	T	0.03043	-1.1079	10	0.51188	T	0.08	-46.9458	14.8347	0.70175	1.0:0.0:0.0:0.0	.	85;204;204	Q9Y5B0-3;Q9Y5B0-4;Q9Y5B0	.;.;CTDP1_HUMAN	V	204	ENSP00000299543:M204V;ENSP00000075430:M204V	ENSP00000075430:M204V	M	+	1	0	CTDP1	75558965	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	8.189000	0.89712	1.967000	0.57214	0.533000	0.62120	ATG		0.493	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256432.1	NM_004715	
ATP8B3	148229	broad.mit.edu	37	19	1792112	1792112	+	Missense_Mutation	SNP	C	C	T	rs547170926		TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr19:1792112C>T	ENST00000310127.6	-	19	2316	c.2078G>A	c.(2077-2079)cGg>cAg	p.R693Q	ATP8B3_ENST00000525591.1_Missense_Mutation_p.R646Q|ATP8B3_ENST00000539485.1_Missense_Mutation_p.R693Q	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	693					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACAGTGTCCGCAGGGTCTC	0.677													.|||	1	0.000199681	0.0	0.0	5008	,	,		14274	0.0		0.0	False		,,,				2504	0.001					uc002ltw.2																			0					0						c.(2077-2079)CGG>CAG		ATPase, class I, type 8B, member 3																																				SO:0001583	missense	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1792112C>T	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.2078G>A	19.37:g.1792112C>T	ENSP00000311336:p.Arg693Gln					ATP8B3_uc002ltv.2_Missense_Mutation_p.R646Q|ATP8B3_uc002ltx.2_RNA	p.R693Q	NM_138813	NP_620168	O60423	AT8B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	19	2312	-		Hepatocellular(1079;0.137)	693			Cytoplasmic (Potential).		Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	37	c.2078G>A	CCDS45901.1	.	.	.	.	.	.	.	.	.	.	C	32	5.144234	0.94603	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591	D;D;D	0.87256	-2.23;-2.23;-2.23	4.58	4.58	0.56647	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.96043	0.8711	H	0.98005	4.125	0.40913	D	0.984249	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98319	1.0527	10	0.87932	D	0	.	15.9241	0.79603	0.0:1.0:0.0:0.0	.	693;646	O60423;Q7Z485	AT8B3_HUMAN;.	Q	693;693;646	ENSP00000311336:R693Q;ENSP00000443574:R693Q;ENSP00000437115:R646Q	ENSP00000311336:R693Q	R	-	2	0	ATP8B3	1743112	1.000000	0.71417	0.997000	0.53966	0.784000	0.44337	7.693000	0.84214	2.094000	0.63399	0.561000	0.74099	CGG		0.677	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813	
ADAMTS10	81794	broad.mit.edu	37	19	8668748	8668748	+	Silent	SNP	G	G	A	rs371629978		TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr19:8668748G>A	ENST00000597188.1	-	5	726	c.456C>T	c.(454-456)gaC>gaT	p.D152D	ADAMTS10_ENST00000596709.1_5'UTR|ADAMTS10_ENST00000270328.4_Silent_p.D152D	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	152						extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						ACTCTTCCTCGTCTGCCACGA	0.572																																						uc002mkj.1																			0				pancreas(2)|skin(2)	4						c.(454-456)GAC>GAT		ADAM metallopeptidase with thrombospondin type 1		G		0,4406		0,0,2203	78.0	70.0	73.0		456	-3.9	0.8	19		73	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ADAMTS10	NM_030957.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		152/1104	8668748	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8668748G>A	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.456C>T	19.37:g.8668748G>A						ADAMTS10_uc002mkk.1_Translation_Start_Site	p.D152D	NM_030957	NP_112219	Q9H324	ATS10_HUMAN			5	730	-			152					M0QZE4	Silent	SNP	ENST00000597188.1	37	c.456C>T	CCDS12206.1																																																																																				0.572	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957	
MUC16	94025	broad.mit.edu	37	19	9058871	9058871	+	Silent	SNP	G	G	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr19:9058871G>T	ENST00000397910.4	-	3	28778	c.28575C>A	c.(28573-28575)acC>acA	p.T9525T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9527	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGCACTGGTGGTTTCCACAT	0.478																																						uc002mkp.2																			0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(28573-28575)ACC>ACA		mucin 16							128.0	126.0	126.0					19																	9058871		1975	4165	6140	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9058871G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.28575C>A	19.37:g.9058871G>T							p.T9525T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	28779	-			9527			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.28575C>A	CCDS54212.1																																																																																				0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
IL12RB1	3594	broad.mit.edu	37	19	18184347	18184347	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr19:18184347G>A	ENST00000600835.2	-	9	1061	c.763C>T	c.(763-765)Cgg>Tgg	p.R255W	IL12RB1_ENST00000322153.7_Missense_Mutation_p.R255W|IL12RB1_ENST00000593993.2_Missense_Mutation_p.R255W			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	255	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						AGGGTCAGCCGCCTCCTCCCA	0.602																																						uc002nhw.1																			0				pancreas(1)	1						c.(763-765)CGG>TGG		interleukin 12 receptor, beta 1 isoform 1							49.0	40.0	43.0					19																	18184347		2203	4300	6503	SO:0001583	missense	3594				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity	g.chr19:18184347G>A	U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.763C>T	19.37:g.18184347G>A	ENSP00000470788:p.Arg255Trp					IL12RB1_uc010xqb.1_Missense_Mutation_p.R255W|IL12RB1_uc002nhx.1_Missense_Mutation_p.R295W|IL12RB1_uc002nhy.2_Missense_Mutation_p.R255W	p.R255W	NM_005535	NP_005526	P42701	I12R1_HUMAN			8	827	-			255			Extracellular (Potential).|Fibronectin type-III 3.		A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Missense_Mutation	SNP	ENST00000600835.2	37	c.763C>T	CCDS54232.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.492547	0.26774	.	.	ENSG00000096996	ENST00000430026;ENST00000322153	T;T	0.59502	0.26;0.26	3.2	-0.487	0.12060	.	1.840930	0.03047	N	0.154130	T	0.63486	0.2515	L	0.40543	1.245	0.09310	N	1	D;D;D	0.76494	0.998;0.999;0.997	P;P;P	0.57679	0.804;0.825;0.642	T	0.55075	-0.8197	10	0.72032	D	0.01	-0.0455	8.8582	0.35240	0.0:0.0:0.41:0.59	.	255;255;255	P42701-2;P42701-3;P42701	.;.;I12R1_HUMAN	W	255	ENSP00000403103:R255W;ENSP00000314425:R255W	ENSP00000314425:R255W	R	-	1	2	IL12RB1	18045347	0.000000	0.05858	0.022000	0.16811	0.013000	0.08279	0.485000	0.22324	0.023000	0.15187	-0.314000	0.08810	CGG		0.602	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466525.3		
ZNF257	113835	broad.mit.edu	37	19	22271312	22271312	+	Missense_Mutation	SNP	G	G	A	rs371623333		TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr19:22271312G>A	ENST00000594947.1	+	4	904	c.760G>A	c.(760-762)Gag>Aag	p.E254K		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	254					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCATACTAGAGAGAAACCCTA	0.388																																						uc010ecx.2																			0					0						c.(760-762)GAG>AAG		zinc finger protein 257		G	LYS/GLU	0,4230		0,0,2115	37.0	40.0	39.0		760	1.1	0.0	19		39	2,8514		0,2,4256	no	missense	ZNF257	NM_033468.2	56	0,2,6371	AA,AG,GG		0.0235,0.0,0.0157	benign	254/564	22271312	2,12744	2115	4258	6373	SO:0001583	missense	113835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22271312G>A	AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.760G>A	19.37:g.22271312G>A	ENSP00000470209:p.Glu254Lys					ZNF257_uc010ecy.2_Missense_Mutation_p.E222K	p.E254K	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN			4	929	+		all_lung(12;0.0961)|Lung NSC(12;0.103)	254					B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	ENST00000594947.1	37	c.760G>A	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.795155	0.31777	0.0	2.35E-4	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	1.11	1.11	0.20524	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.52901	0.1763	M	0.78049	2.395	0.29471	N	0.857023	B	0.23735	0.09	B	0.31495	0.131	T	0.55872	-0.8072	8	0.56958	D	0.05	.	6.8003	0.23748	0.0:0.2954:0.7046:0.0	.	254	Q9Y2Q1	ZN257_HUMAN	K	254;226	.	ENSP00000380312:E226K	E	+	1	0	ZNF257	22063152	0.967000	0.33354	0.018000	0.16275	0.091000	0.18340	1.490000	0.35573	0.518000	0.28383	0.313000	0.20887	GAG		0.388	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1		
MEIS3	56917	broad.mit.edu	37	19	47920129	47920129	+	Missense_Mutation	SNP	T	T	C			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr19:47920129T>C	ENST00000558555.1	-	3	464	c.277A>G	c.(277-279)Aca>Gca	p.T93A	MEIS3_ENST00000561096.1_Missense_Mutation_p.T181A|MEIS3_ENST00000331559.5_Missense_Mutation_p.T93A|MEIS3_ENST00000441740.2_Missense_Mutation_p.T93A|MEIS3_ENST00000561293.1_Missense_Mutation_p.T93A|MEIS3_ENST00000559524.1_Missense_Mutation_p.T93A			Q99687	MEIS3_HUMAN	Meis homeobox 3	93					negative regulation of apoptotic signaling pathway (GO:2001234)|positive regulation of protein kinase B signaling (GO:0051897)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		CCAGGGGGTGTCCCCAGCCCA	0.632																																						uc002pgu.2																			0					0						c.(277-279)ACA>GCA		Meis1, myeloid ecotropic viral integration site							29.0	31.0	30.0					19																	47920129		2203	4300	6503	SO:0001583	missense	56917					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:47920129T>C	BC025404	CCDS33064.1, CCDS46132.1, CCDS74406.1	19q13.32	2012-10-02	2007-02-15		ENSG00000105419	ENSG00000105419		"""Homeoboxes / TALE class"""	29537	protein-coding gene	gene with protein product			"""Meis1, myeloid ecotropic viral integration site 1 homolog 3 (mouse)"""			8950991	Standard	NM_020160		Approved	MRG2, DKFZp547H236	uc002pgt.4	Q99687	OTTHUMG00000172280	ENST00000558555.1:c.277A>G	19.37:g.47920129T>C	ENSP00000454073:p.Thr93Ala					MEIS3_uc002pgp.2_5'Flank|MEIS3_uc002pgq.2_Missense_Mutation_p.T174A|MEIS3_uc002pgr.2_5'UTR|MEIS3_uc002pgt.2_Missense_Mutation_p.T93A|MEIS3_uc002pgv.2_Missense_Mutation_p.T93A|MEIS3_uc002pgs.2_Missense_Mutation_p.T93A|MEIS3_uc010eld.2_Missense_Mutation_p.T93A|MEIS3_uc002pgw.2_3'UTR	p.T93A	NM_001009813	NP_001009813	Q99687	MEIS3_HUMAN		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)	3	724	-		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	93					A8K1N5|Q6NT73|Q8TC66|Q9NPW2	Missense_Mutation	SNP	ENST00000558555.1	37	c.277A>G		.	.	.	.	.	.	.	.	.	.	T	2.008	-0.427868	0.04701	.	.	ENSG00000105419	ENST00000331559;ENST00000441740	T;T	0.33865	1.39;1.39	3.43	-1.77	0.07982	.	0.409630	0.22679	N	0.056977	T	0.13457	0.0326	N	0.08118	0	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.06405	0.0;0.0;0.0;0.002	T	0.08953	-1.0697	10	0.34782	T	0.22	-3.2356	3.3961	0.07307	0.3451:0.3649:0.0:0.29	.	2;93;93;93	Q8TCW1;Q99687;Q99687-3;Q99687-2	.;MEIS3_HUMAN;.;.	A	93	ENSP00000333552:T93A;ENSP00000388667:T93A	ENSP00000333552:T93A	T	-	1	0	MEIS3	52611941	0.000000	0.05858	0.027000	0.17364	0.013000	0.08279	-1.127000	0.03251	-0.425000	0.07371	0.397000	0.26171	ACA		0.632	MEIS3-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000417642.1	XM_085929	
KLK6	5653	broad.mit.edu	37	19	51462468	51462468	+	Silent	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr19:51462468G>A	ENST00000376851.3	-	6	1126	c.687C>T	c.(685-687)aaC>aaT	p.N229N	KLK6_ENST00000456750.2_Silent_p.N122N|KLK6_ENST00000391808.1_Silent_p.N122N|KLK6_ENST00000376853.4_Missense_Mutation_p.T101M|CTB-147C22.8_ENST00000594939.1_RNA|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000310157.2_Silent_p.N229N|KLK6_ENST00000594641.1_Silent_p.N229N	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	229	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amyloid precursor protein metabolic process (GO:0042982)|central nervous system development (GO:0007417)|collagen catabolic process (GO:0030574)|hormone metabolic process (GO:0042445)|myelination (GO:0042552)|neuron death (GO:0070997)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|protein autoprocessing (GO:0016540)|regulation of cell differentiation (GO:0045595)|regulation of neuron projection development (GO:0010975)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		ATCTGCAGACGTTGGTGTAGA	0.547																																						uc002pui.2																			0					0						c.(685-687)AAC>AAT		kallikrein-related peptidase 6 isoform A							403.0	374.0	384.0					19																	51462468		2203	4300	6503	SO:0001819	synonymous_variant	5653				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity	g.chr19:51462468G>A	U62801	CCDS12811.1, CCDS42599.1	19q13.3	2011-09-07	2006-10-27			ENSG00000167755		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6367	protein-coding gene	gene with protein product		602652	"""protease, serine, 18"", ""kallikrein 6 (neurosin, zyme)"""	PRSS9, PRSS18		9003450, 16800724, 16800723	Standard	NM_002774		Approved	Bssp, Klk7, neurosin	uc002pui.3	Q92876		ENST00000376851.3:c.687C>T	19.37:g.51462468G>A						KLK6_uc010eoj.2_Missense_Mutation_p.T101M|KLK6_uc002puh.2_Silent_p.N238N|KLK6_uc002puj.2_Silent_p.N122N|KLK6_uc010ycn.1_Silent_p.N122N|KLK6_uc002pul.2_Silent_p.N229N|KLK6_uc002pum.2_Silent_p.N122N	p.N229N	NM_001012964	NP_001012982	Q92876	KLK6_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)	7	947	-		all_neural(266;0.026)	229			Peptidase S1.		A6NJA1|A8MW09|Q6H301	Silent	SNP	ENST00000376851.3	37	c.687C>T	CCDS12811.1	.	.	.	.	.	.	.	.	.	.	N	0.501	-0.870983	0.02570	.	.	ENSG00000167755	ENST00000376853	D	0.83250	-1.7	3.89	-7.77	0.01227	.	.	.	.	.	T	0.68192	0.2974	.	.	.	0.49051	D	0.99974	B	0.13145	0.007	B	0.10450	0.005	T	0.27400	-1.0075	8	0.54805	T	0.06	.	3.9326	0.09292	0.5537:0.1808:0.1744:0.0911	.	101	E7ETY0	.	M	101	ENSP00000366049:T101M	ENSP00000366049:T101M	T	-	2	0	KLK6	56154280	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-6.636000	0.00058	-2.615000	0.00443	-3.912000	0.00016	ACG		0.547	KLK6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465060.1	NM_002774	
NLRP13	126204	broad.mit.edu	37	19	56423179	56423179	+	Silent	SNP	G	G	A	rs140606375		TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr19:56423179G>A	ENST00000342929.3	-	5	2003	c.2004C>T	c.(2002-2004)gaC>gaT	p.D668D	NLRP13_ENST00000588751.1_Silent_p.D668D	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	668							ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GGAGTTCTTCGTCCTCCAAAA	0.408													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19758	0.0		0.0	False		,,,				2504	0.0					uc010ygg.1																			0				skin(4)|ovary(3)|pancreas(1)|lung(1)	9						c.(2002-2004)GAC>GAT		NACHT, leucine rich repeat and PYD containing		G		5,4401	9.9+/-24.2	0,5,2198	95.0	97.0	96.0		2004	-4.7	0.0	19	dbSNP_134	96	0,8600		0,0,4300	no	coding-synonymous	NLRP13	NM_176810.2		0,5,6498	AA,AG,GG		0.0,0.1135,0.0384		668/1044	56423179	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	126204						ATP binding	g.chr19:56423179G>A	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.2004C>T	19.37:g.56423179G>A							p.D668D	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	5	2029	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	668					Q7RTR5	Silent	SNP	ENST00000342929.3	37	c.2004C>T	CCDS33119.1																																																																																				0.408	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810	
ZNF543	125919	broad.mit.edu	37	19	57840542	57840542	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr19:57840542C>T	ENST00000321545.4	+	4	2057	c.1712C>T	c.(1711-1713)cCt>cTt	p.P571L		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	571					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GTGGGAAGACCTTTTATGACT	0.418																																						uc002qoi.1																			0				skin(1)|pancreas(1)	2						c.(1711-1713)CCT>CTT		zinc finger protein 543							92.0	85.0	88.0					19																	57840542		2203	4300	6503	SO:0001583	missense	125919				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57840542C>T	AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"""Zinc fingers, C2H2-type"", ""-"""	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.1712C>T	19.37:g.57840542C>T	ENSP00000322545:p.Pro571Leu						p.P571L	NM_213598	NP_998763	Q08ER8	ZN543_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	2057	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	571					Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Missense_Mutation	SNP	ENST00000321545.4	37	c.1712C>T	CCDS33130.1	.	.	.	.	.	.	.	.	.	.	C	10.13	1.264831	0.23136	.	.	ENSG00000178229	ENST00000321545	T	0.06294	3.32	2.45	1.38	0.22167	.	.	.	.	.	T	0.06188	0.0160	N	0.22421	0.69	0.09310	N	1	P	0.51057	0.941	P	0.47864	0.559	T	0.35226	-0.9797	9	0.66056	D	0.02	.	5.5128	0.16890	0.0:0.6616:0.2116:0.1268	.	571	Q08ER8	ZN543_HUMAN	L	571	ENSP00000322545:P571L	ENSP00000322545:P571L	P	+	2	0	ZNF543	62532354	0.000000	0.05858	0.001000	0.08648	0.169000	0.22640	-0.157000	0.10085	0.570000	0.29347	0.462000	0.41574	CCT		0.418	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	XM_064865	
TPO	7173	broad.mit.edu	37	2	1544411	1544411	+	Silent	SNP	C	C	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr2:1544411C>T	ENST00000345913.4	+	16	2755	c.2664C>T	c.(2662-2664)ggC>ggT	p.G888G	TPO_ENST00000349624.3_Silent_p.G715G|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Intron|TPO_ENST00000346956.3_Silent_p.G844G|TPO_ENST00000329066.4_Silent_p.G888G|TPO_ENST00000382198.1_Silent_p.G715G|TPO_ENST00000382201.3_Silent_p.G831G	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	888					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)	p.G888G(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CGGAGACAGGCGGAGGAACTC	0.642																																						uc002qww.2																			1	Substitution - coding silent(1)		breast(1)	ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20						c.(2662-2664)GGC>GGT		thyroid peroxidase isoform a	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						90.0	76.0	81.0					2																	1544411		2203	4300	6503	SO:0001819	synonymous_variant	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1544411C>T		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.2664C>T	2.37:g.1544411C>T						TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Silent_p.G831G|TPO_uc002qwr.2_Silent_p.G888G|TPO_uc002qwx.2_Silent_p.G831G|TPO_uc010yio.1_Silent_p.G715G|TPO_uc010yip.1_Silent_p.G844G|TPO_uc002qwy.1_Silent_p.G184G|TPO_uc002qwz.2_Intron	p.G888G	NM_000547	NP_000538	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	16	2755	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	888			Cytoplasmic (Potential).		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Silent	SNP	ENST00000345913.4	37	c.2664C>T	CCDS1643.1																																																																																				0.642	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547	
ALLC	55821	broad.mit.edu	37	2	3730599	3730599	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr2:3730599G>A	ENST00000252505.3	+	7	608	c.446G>A	c.(445-447)gGc>gAc	p.G149D		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	168					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		CCTGCTTCCGGCCACAACTAT	0.438										HNSCC(21;0.051)																												uc010ewt.2																			0				central_nervous_system(1)	1						c.(445-447)GGC>GAC		allantoicase isoform a							171.0	175.0	174.0					2																	3730599		1948	4145	6093	SO:0001583	missense	55821						allantoicase activity	g.chr2:3730599G>A	AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.446G>A	2.37:g.3730599G>A	ENSP00000252505:p.Gly149Asp	HNSCC(21;0.051)					p.G149D	NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)	7	607	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)	168					Q53T95|Q5RL81|Q96RE6|Q9NZA7	Missense_Mutation	SNP	ENST00000252505.3	37	c.446G>A	CCDS46223.1	.	.	.	.	.	.	.	.	.	.	G	8.848	0.943951	0.18281	.	.	ENSG00000151360	ENST00000252505	.	.	.	5.44	4.54	0.55810	Allantoicase domain (1);Galactose-binding domain-like (1);	0.119500	0.85682	D	0.000000	T	0.28532	0.0706	N	0.19112	0.55	0.25636	N	0.986257	B	0.23891	0.093	B	0.27380	0.079	T	0.11518	-1.0584	9	0.24483	T	0.36	-14.999	12.7629	0.57374	0.0852:0.0:0.9148:0.0	.	168	Q8N6M5	ALLC_HUMAN	D	149	.	ENSP00000252505:G149D	G	+	2	0	ALLC	3708474	1.000000	0.71417	0.964000	0.40570	0.855000	0.48748	5.089000	0.64492	2.703000	0.92315	0.591000	0.81541	GGC		0.438	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322855.1		
APOB	338	broad.mit.edu	37	2	21256280	21256280	+	Nonsense_Mutation	SNP	C	C	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr2:21256280C>A	ENST00000233242.1	-	9	1142	c.1015G>T	c.(1015-1017)Gag>Tag	p.E339*	APOB_ENST00000399256.4_Nonsense_Mutation_p.E339*	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	339	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATATTTTGCTCAGAGATGGTT	0.468																																						uc002red.2																			0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	GRCh37	CD076733	APOB	D		c.(1015-1017)GAG>TAG		apolipoprotein B precursor	Atorvastatin(DB01076)						161.0	155.0	157.0					2																	21256280		2203	4300	6503	SO:0001587	stop_gained	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21256280C>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.1015G>T	2.37:g.21256280C>A	ENSP00000233242:p.Glu339*						p.E339*	NM_000384	NP_000375	P04114	APOB_HUMAN			9	1143	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		339			Vitellogenin.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Nonsense_Mutation	SNP	ENST00000233242.1	37	c.1015G>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.711174	0.89112	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	.	.	.	5.53	5.53	0.82687	.	0.205916	0.33401	N	0.004952	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	15.672	0.77286	0.0:0.8253:0.1747:0.0	.	.	.	.	X	339	.	ENSP00000233242:E339X	E	-	1	0	APOB	21109785	1.000000	0.71417	0.974000	0.42286	0.131000	0.20780	4.262000	0.58847	2.768000	0.95171	0.655000	0.94253	GAG		0.468	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
C2orf71	388939	broad.mit.edu	37	2	29294478	29294478	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr2:29294478C>T	ENST00000331664.5	-	1	2649	c.2650G>A	c.(2650-2652)Gcc>Acc	p.A884T		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	884					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CTCACAGAGGCCCTCAGCTTT	0.657																																						uc002rmt.1																			0				skin(1)	1						c.(2650-2652)GCC>ACC		hypothetical protein LOC388939							28.0	32.0	31.0					2																	29294478		1923	4120	6043	SO:0001583	missense	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29294478C>T		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.2650G>A	2.37:g.29294478C>T	ENSP00000332809:p.Ala884Thr						p.A884T	NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN			1	2650	-			884						Missense_Mutation	SNP	ENST00000331664.5	37	c.2650G>A	CCDS42669.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.911393	0.52439	.	.	ENSG00000179270	ENST00000331664	T	0.25414	1.8	5.55	4.66	0.58398	.	0.206216	0.40302	N	0.001122	T	0.25457	0.0619	L	0.51422	1.61	0.34336	D	0.688178	P	0.52316	0.952	B	0.43301	0.415	T	0.41251	-0.9519	10	0.56958	D	0.05	-8.3909	11.0208	0.47718	0.0:0.8562:0.0:0.1438	.	884	A6NGG8	CB071_HUMAN	T	884	ENSP00000332809:A884T	ENSP00000332809:A884T	A	-	1	0	C2orf71	29147982	1.000000	0.71417	0.962000	0.40283	0.206000	0.24218	4.159000	0.58157	2.596000	0.87737	0.591000	0.81541	GCC		0.657	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883	
FUNDC2P2	388965	broad.mit.edu	37	2	84518284	84518284	+	RNA	SNP	T	T	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr2:84518284T>A	ENST00000331369.5	+	0	478									FUN14 domain containing 2 pseudogene 2																		CTAAGAGCACTCAGATACCTA	0.463																																						uc010ffz.1																			0					0						c.(340-342)ACT>ACA		RecName: Full=FUN14 domain-containing protein 2; AltName: Full=Hepatitis C virus core-binding protein 6; AltName: Full=Cervical cancer proto-oncogene 3 protein;          Short=HCC-3;																																						388965							g.chr2:84518284T>A			2p11.2	2010-03-12			ENSG00000182814	ENSG00000182814			17247	pseudogene	pseudogene							Standard	NR_003663		Approved		uc010ffz.1		OTTHUMG00000152875		2.37:g.84518284T>A							p.T114T	NR_003663						1	479	+									Silent	SNP	ENST00000331369.5	37	c.342T>A																																																																																					0.463	FUNDC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000333681.1	NR_003663	
AMMECR1L	83607	broad.mit.edu	37	2	128631538	128631538	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr2:128631538G>A	ENST00000272647.5	-	3	531	c.271C>T	c.(271-273)Cgg>Tgg	p.R91W	AMMECR1L_ENST00000393001.1_Missense_Mutation_p.R91W	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	91										central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		CCATTAGGCCGGGGAAGAGGG	0.547																																						uc002tpl.2																			0				central_nervous_system(1)	1						c.(271-273)CGG>TGG		AMME chromosomal region gene 1-like							153.0	147.0	149.0					2																	128631538		2203	4300	6503	SO:0001583	missense	83607							g.chr2:128631538G>A		CCDS2152.1	2q21	2012-11-15	2012-11-15		ENSG00000144233	ENSG00000144233			28658	protein-coding gene	gene with protein product			"""AMME chromosomal region gene 1-like"""				Standard	NM_001199140		Approved	MGC4268	uc002tpl.3	Q6DCA0	OTTHUMG00000131535	ENST00000272647.5:c.271C>T	2.37:g.128631538G>A	ENSP00000272647:p.Arg91Trp					AMMECR1L_uc002tpm.2_Missense_Mutation_p.R91W	p.R91W	NM_031445	NP_113633	Q6DCA0	AMERL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.07)	3	522	-	Colorectal(110;0.1)		91					B4E276	Missense_Mutation	SNP	ENST00000272647.5	37	c.271C>T	CCDS2152.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.612283	0.66672	.	.	ENSG00000144233	ENST00000272647;ENST00000393001	.	.	.	5.39	4.51	0.55191	.	0.000000	0.64402	D	0.000001	T	0.28034	0.0691	N	0.14661	0.345	0.51233	D	0.999917	D	0.55385	0.971	B	0.35312	0.2	T	0.07868	-1.0750	9	0.38643	T	0.18	-12.1256	15.6155	0.76764	0.0:0.0:0.8614:0.1386	.	91	Q6DCA0	AMERL_HUMAN	W	91	.	ENSP00000272647:R91W	R	-	1	2	AMMECR1L	128348008	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.045000	0.76585	1.273000	0.44346	0.655000	0.94253	CGG		0.547	AMMECR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254392.1	NM_031445	
TTN	7273	broad.mit.edu	37	2	179457195	179457195	+	Missense_Mutation	SNP	T	T	G			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr2:179457195T>G	ENST00000591111.1	-	251	54838	c.54614A>C	c.(54613-54615)aAt>aCt	p.N18205T	TTN_ENST00000342175.6_Missense_Mutation_p.N10973T|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.N17278T|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.N10906T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.N10781T|TTN_ENST00000589042.1_Missense_Mutation_p.N19846T|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18205	Ig-like 105.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGGGCAGCATTACGAATTTC	0.378																																						uc010zfg.1																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(51832-51834)AAT>ACT		titin isoform N2-A							251.0	232.0	238.0					2																	179457195		1885	4110	5995	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179457195T>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.54614A>C	2.37:g.179457195T>G	ENSP00000465570:p.Asn18205Thr					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.N10973T|TTN_uc010zfi.1_Missense_Mutation_p.N10906T|TTN_uc010zfj.1_Missense_Mutation_p.N10781T	p.N17278T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		250	52057	-			18205					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.51833A>C		.	.	.	.	.	.	.	.	.	.	T	10.67	1.414179	0.25465	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	6.03	6.03	0.97812	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.54367	0.1854	L	0.49699	1.58	0.37864	D	0.92981	D;D;D;D	0.53312	0.959;0.959;0.959;0.959	P;P;P;P	0.50049	0.551;0.551;0.551;0.629	T	0.62492	-0.6843	9	0.87932	D	0	.	16.5724	0.84622	0.0:0.0:0.0:1.0	.	10781;10906;10973;18205	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	17278;10781;10973;10906;10779	ENSP00000343764:N17278T;ENSP00000434586:N10781T;ENSP00000340554:N10973T;ENSP00000352154:N10906T	ENSP00000340554:N10973T	N	-	2	0	TTN	179165441	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	2.477000	0.45180	2.313000	0.78055	0.455000	0.32223	AAT		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179476881	179476881	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr2:179476881C>T	ENST00000591111.1	-	217	45558	c.45334G>A	c.(45334-45336)Gga>Aga	p.G15112R	TTN_ENST00000342175.6_Missense_Mutation_p.G7880R|TTN_ENST00000342992.6_Missense_Mutation_p.G14185R|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G7813R|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G7688R|TTN_ENST00000589042.1_Missense_Mutation_p.G16753R|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15112					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGGGTGGTCCAGGAGTGGCT	0.428																																						uc010zfg.1																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(42553-42555)GGA>AGA		titin isoform N2-A							72.0	65.0	67.0					2																	179476881		1890	4103	5993	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179476881C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.45334G>A	2.37:g.179476881C>T	ENSP00000465570:p.Gly15112Arg					uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G7880R|TTN_uc010zfi.1_Missense_Mutation_p.G7813R|TTN_uc010zfj.1_Missense_Mutation_p.G7688R	p.G14185R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		216	42777	-			15112					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.42553G>A		.	.	.	.	.	.	.	.	.	.	C	14.70	2.615032	0.46631	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	6.17	6.17	0.99709	Fibronectin, type III (3);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80008	0.4545	M	0.89904	3.07	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.82076	-0.0636	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	7688;7813;7880;15112	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	14185;7688;7880;7813;7688	ENSP00000343764:G14185R;ENSP00000434586:G7688R;ENSP00000340554:G7880R;ENSP00000352154:G7813R	ENSP00000340554:G7880R	G	-	1	0	TTN	179185126	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.770000	0.85390	2.941000	0.99782	0.655000	0.94253	GGA		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
DNAH7	56171	broad.mit.edu	37	2	196681639	196681639	+	Silent	SNP	C	C	T	rs375959193		TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr2:196681639C>T	ENST00000312428.6	-	51	9574	c.9474G>A	c.(9472-9474)tcG>tcA	p.S3158S		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3158	AAA 5. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TATTGCCTTCCGAAGATGAAA	0.323																																						uc002utj.3																			0				skin(10)|ovary(2)	12						c.(9472-9474)TCG>TCA		dynein, axonemal, heavy chain 7		C		0,3612		0,0,1806	54.0	54.0	54.0		9474	-1.6	1.0	2		54	1,8147		0,1,4073	no	coding-synonymous	DNAH7	NM_018897.2		0,1,5879	TT,TC,CC		0.0123,0.0,0.0085		3158/4025	196681639	1,11759	1806	4074	5880	SO:0001819	synonymous_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196681639C>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.9474G>A	2.37:g.196681639C>T							p.S3158S	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			51	9575	-			3158			AAA 5 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	c.9474G>A	CCDS42794.1																																																																																				0.323	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897	
JPH2	57158	broad.mit.edu	37	20	42788505	42788505	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr20:42788505G>A	ENST00000372980.3	-	2	1794	c.922C>T	c.(922-924)Cgc>Tgc	p.R308C		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	308					calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CCACTGGAGCGTTCGCTCACG	0.672																																						uc002xli.1																			0					0						c.(922-924)CGC>TGC		junctophilin 2 isoform 1							58.0	50.0	53.0					20																	42788505		2203	4300	6503	SO:0001583	missense	57158				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr20:42788505G>A	AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.922C>T	20.37:g.42788505G>A	ENSP00000362071:p.Arg308Cys						p.R308C	NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		2	1795	-		Myeloproliferative disorder(115;0.0122)	308			MORN 7.|Cytoplasmic (Potential).		E1P5X1|O95913|Q5JY74|Q9UJN4	Missense_Mutation	SNP	ENST00000372980.3	37	c.922C>T	CCDS13325.1	.	.	.	.	.	.	.	.	.	.	g	14.81	2.646204	0.47258	.	.	ENSG00000149596	ENST00000372980	T	0.53857	0.6	3.1	3.1	0.35709	.	0.063075	0.64402	D	0.000006	T	0.63977	0.2557	L	0.45051	1.395	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.68330	-0.5437	10	0.66056	D	0.02	.	14.3498	0.66694	0.0:0.0:1.0:0.0	.	308	Q9BR39	JPH2_HUMAN	C	308	ENSP00000362071:R308C	ENSP00000362071:R308C	R	-	1	0	JPH2	42221919	1.000000	0.71417	1.000000	0.80357	0.522000	0.34438	2.930000	0.48924	1.545000	0.49373	0.298000	0.19748	CGC		0.672	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1		
COL6A2	1292	broad.mit.edu	37	21	47545189	47545189	+	Missense_Mutation	SNP	G	G	A	rs541785316	byFrequency	TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr21:47545189G>A	ENST00000300527.4	+	24	1884	c.1780G>A	c.(1780-1782)Gtc>Atc	p.V594I	COL6A2_ENST00000310645.5_Missense_Mutation_p.V594I|COL6A2_ENST00000357838.4_Missense_Mutation_p.V594I|COL6A2_ENST00000397763.1_Missense_Mutation_p.V594I|COL6A2_ENST00000409416.1_Missense_Mutation_p.V594I	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	594	Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGAGTGTGACGTCATGACCTA	0.687													G|||	3	0.000599042	0.0008	0.0	5008	,	,		14208	0.001		0.0	False		,,,				2504	0.001					uc002zia.1																			0				central_nervous_system(7)|ovary(1)	8						c.(1780-1782)GTC>ATC		alpha 2 type VI collagen isoform 2C2 precursor							104.0	102.0	103.0					21																	47545189		2203	4300	6503	SO:0001583	missense	1292				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47545189G>A	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.1780G>A	21.37:g.47545189G>A	ENSP00000300527:p.Val594Ile					COL6A2_uc002zhy.1_Missense_Mutation_p.V594I|COL6A2_uc002zhz.1_Missense_Mutation_p.V594I|COL6A2_uc002zib.1_5'UTR|COL6A2_uc002zic.1_5'Flank	p.V594I	NM_001849	NP_001840	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	24	1862	+	Breast(49;0.245)		594			Nonhelical region.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.1780G>A	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.991074	0.35131	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763;ENST00000413758	D;D;D;D;D;T	0.93604	-3.25;-3.25;-3.25;-3.25;-3.25;-1.2	4.51	4.51	0.55191	.	0.199714	0.42821	D	0.000645	D	0.90277	0.6959	N	0.21324	0.655	0.80722	D	1	D;D;D	0.71674	0.998;0.987;0.987	P;P;P	0.56563	0.801;0.472;0.472	D	0.86980	0.2103	10	0.06236	T	0.91	-36.4997	12.7702	0.57417	0.0829:0.0:0.9171:0.0	.	594;594;594	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	I	594;594;594;594;594;135	ENSP00000300527:V594I;ENSP00000350497:V594I;ENSP00000312529:V594I;ENSP00000387115:V594I;ENSP00000380870:V594I;ENSP00000395751:V135I	ENSP00000300527:V594I	V	+	1	0	COL6A2	46369617	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	7.501000	0.81600	2.070000	0.61991	0.579000	0.79373	GTC		0.687	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1		
CABIN1	23523	broad.mit.edu	37	22	24561503	24561503	+	Missense_Mutation	SNP	A	A	G			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr22:24561503A>G	ENST00000398319.2	+	31	5301	c.4916A>G	c.(4915-4917)tAt>tGt	p.Y1639C	CABIN1_ENST00000337989.7_Missense_Mutation_p.Y64C|CABIN1_ENST00000405822.2_Missense_Mutation_p.Y1560C|CABIN1_ENST00000263119.5_Missense_Mutation_p.Y1639C	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1639					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CGCAGGAAGTATCTGCGAGAT	0.612																																						uc002zzi.1																			0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(4915-4917)TAT>TGT		calcineurin binding protein 1							85.0	59.0	68.0					22																	24561503		2200	4300	6500	SO:0001583	missense	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24561503A>G	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.4916A>G	22.37:g.24561503A>G	ENSP00000381364:p.Tyr1639Cys					CABIN1_uc002zzj.1_Missense_Mutation_p.Y1560C|CABIN1_uc002zzl.1_Missense_Mutation_p.Y1639C|CABIN1_uc002zzm.1_Missense_Mutation_p.Y64C	p.Y1639C	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN			31	5043	+			1639					G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	c.4916A>G	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.158504	0.78114	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319;ENST00000337989;ENST00000403176	T;T;T;T	0.20738	2.05;2.05;2.05;2.05	4.47	4.47	0.54385	.	0.000000	0.64402	D	0.000002	T	0.44973	0.1319	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.993;0.998;0.996	T	0.47302	-0.9128	10	0.87932	D	0	.	13.3317	0.60490	1.0:0.0:0.0:0.0	.	64;1560;1639	B5MEB3;G5E9F3;Q9Y6J0	.;.;CABIN_HUMAN	C	1639;1560;1639;64;64	ENSP00000263119:Y1639C;ENSP00000384694:Y1560C;ENSP00000381364:Y1639C;ENSP00000336991:Y64C	ENSP00000263119:Y1639C	Y	+	2	0	CABIN1	22891503	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	9.030000	0.93725	1.819000	0.53055	0.529000	0.55759	TAT		0.612	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295	
DNAJB7	150353	broad.mit.edu	37	22	41257115	41257115	+	Frame_Shift_Del	DEL	T	T	-			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr22:41257115delT	ENST00000307221.4	-	1	1015	c.884delA	c.(883-885)aagfs	p.K296fs	XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000482652.1_Intron|XPNPEP3_ENST00000544094.1_5'Flank	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	296	Poly-Lys.						chaperone binding (GO:0051087)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						TTTACGCTTCTTTTTTTTCCT	0.378																																						uc003azj.2																			0				ovary(1)	1						c.(883-885)AAGfs		DnaJ (Hsp40) homolog, subfamily B, member 7							105.0	100.0	102.0					22																	41257115		2203	4300	6503	SO:0001589	frameshift_variant	150353				protein folding		heat shock protein binding|unfolded protein binding	g.chr22:41257115delT	AF085232	CCDS14008.1	22q13.2	2011-09-02			ENSG00000172404	ENSG00000172404		"""Heat shock proteins / DNAJ (HSP40)"""	24986	protein-coding gene	gene with protein product		611336				12477932	Standard	NM_145174		Approved	HSC3	uc003azj.3	Q7Z6W7	OTTHUMG00000151202	ENST00000307221.4:c.884delA	22.37:g.41257115delT	ENSP00000307197:p.Lys296fs					XPNPEP3_uc011aox.1_Intron|XPNPEP3_uc003azh.2_Intron|XPNPEP3_uc003azi.2_Intron|XPNPEP3_uc011aoy.1_5'Flank|XPNPEP3_uc003azg.1_Intron|XPNPEP3_uc003azf.1_Intron|XPNPEP3_uc010gyh.1_5'Flank	p.K295fs	NM_145174	NP_660157	Q7Z6W7	DNJB7_HUMAN			1	1016	-			295			Poly-Lys.		Q2M220|Q5H904|Q8WYJ7	Frame_Shift_Del	DEL	ENST00000307221.4	37	c.884delA	CCDS14008.1																																																																																				0.378	DNAJB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321765.1	NM_145174	
CHDH	55349	broad.mit.edu	37	3	53856599	53856599	+	Silent	SNP	G	G	A	rs199770725		TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr3:53856599G>A	ENST00000315251.6	-	4	1211	c.774C>T	c.(772-774)gcC>gcT	p.A258A		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	258					glycine betaine biosynthetic process from choline (GO:0019285)	mitochondrial inner membrane (GO:0005743)	choline dehydrogenase activity (GO:0008812)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	CAAGCGTCTCGGCCTCGGCCT	0.632																																						uc003dgz.2																			0				ovary(1)|central_nervous_system(1)	2						c.(772-774)GCC>GCT		choline dehydrogenase precursor	Choline(DB00122)						105.0	85.0	92.0					3																	53856599		2203	4300	6503	SO:0001819	synonymous_variant	55349				alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding	g.chr3:53856599G>A	AJ272267	CCDS2873.1	3p21	2004-11-24			ENSG00000016391	ENSG00000016391	1.1.99.1		24288	protein-coding gene	gene with protein product							Standard	NM_018397		Approved		uc003dgz.3	Q8NE62	OTTHUMG00000158281	ENST00000315251.6:c.774C>T	3.37:g.53856599G>A							p.A258A	NM_018397	NP_060867	Q8NE62	CHDH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	4	1214	-		Hepatocellular(537;0.152)	258					Q9NY17	Silent	SNP	ENST00000315251.6	37	c.774C>T	CCDS2873.1																																																																																				0.632	CHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350567.2	NM_018397	
SDHAP1	255812	broad.mit.edu	37	3	195692311	195692311	+	RNA	SNP	T	T	C	rs62282793	byFrequency	TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr3:195692311T>C	ENST00000427841.1	-	0	2191					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		TTCCCAGTGCTGACGTCCACA	0.607																																					Ovarian(67;1158 1227 12109 20189 43170)	uc003fvy.2																			0					0						c.(232-234)AGC>GGC		Homo sapiens full length insert cDNA clone ZC24D06.																																						255812							g.chr3:195692311T>C	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195692311T>C						SDHAP1_uc003fvx.3_RNA	p.S78G							3	346	-									Missense_Mutation	SNP	ENST00000427841.1	37	c.232A>G																																																																																					0.607	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1		
SULT1B1	27284	broad.mit.edu	37	4	70615520	70615520	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr4:70615520C>G	ENST00000310613.3	-	4	591	c.294G>C	c.(292-294)gaG>gaC	p.E98D		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	98					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|cellular biogenic amine metabolic process (GO:0006576)|epithelial cell differentiation (GO:0030855)|flavonoid metabolic process (GO:0009812)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|thyroid hormone metabolic process (GO:0042403)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|sulfotransferase activity (GO:0008146)			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						ATGGATTCTTCTCCAATTGTT	0.383																																						uc003hen.2																			0					0						c.(292-294)GAG>GAC		sulfotransferase family, cytosolic, 1B, member							133.0	137.0	136.0					4																	70615520		2203	4300	6503	SO:0001583	missense	27284				3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol		g.chr4:70615520C>G	D89479	CCDS3530.1	4q13.3	2008-02-05			ENSG00000173597	ENSG00000173597		"""Sulfotransferases, cytosolic"""	17845	protein-coding gene	gene with protein product		608436				11688987, 9443824	Standard	NM_014465		Approved	ST1B2	uc003hen.3	O43704	OTTHUMG00000129407	ENST00000310613.3:c.294G>C	4.37:g.70615520C>G	ENSP00000308770:p.Glu98Asp						p.E98D	NM_014465	NP_055280	O43704	ST1B1_HUMAN			4	592	-			98					O15497|Q96FI1|Q9UK34	Missense_Mutation	SNP	ENST00000310613.3	37	c.294G>C	CCDS3530.1	.	.	.	.	.	.	.	.	.	.	C	9.315	1.056687	0.19907	.	.	ENSG00000173597	ENST00000310613;ENST00000510821	D;D	0.81996	-1.56;-1.56	4.69	-0.399	0.12415	Sulfotransferase domain (1);	0.355876	0.23710	N	0.045328	T	0.67287	0.2877	L	0.37466	1.105	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47471	-0.9115	10	0.21014	T	0.42	.	3.7007	0.08382	0.1841:0.2871:0.0:0.5288	.	98	O43704	ST1B1_HUMAN	D	98	ENSP00000308770:E98D;ENSP00000425464:E98D	ENSP00000308770:E98D	E	-	3	2	SULT1B1	70650109	0.000000	0.05858	0.002000	0.10522	0.202000	0.24057	-1.400000	0.02504	-0.056000	0.13221	0.460000	0.39030	GAG		0.383	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251563.2	NM_014465	
PRKG2	5593	broad.mit.edu	37	4	82074799	82074799	+	Splice_Site	SNP	T	T	C			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr4:82074799T>C	ENST00000395578.1	-	7	1105	c.989A>G	c.(988-990)aAg>aGg	p.K330R	PRKG2_ENST00000264399.1_Splice_Site_p.K330R|PRKG2_ENST00000418486.2_Splice_Site_p.K330R|PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000545647.1_5'UTR			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	330					blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						AATAGTTACCTTTCCTTTTGC	0.333																																						uc003hmh.2																			0				breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1)	7						c.(988-990)AAG>AGG		protein kinase, cGMP-dependent, type II							65.0	63.0	64.0					4																	82074799		2203	4300	6503	SO:0001630	splice_region_variant	5593				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr4:82074799T>C	X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.990+1A>G	4.37:g.82074799T>C						PRKG2_uc011ccf.1_5'UTR|PRKG2_uc011ccg.1_5'UTR|PRKG2_uc011cch.1_Missense_Mutation_p.K330R	p.K330R	NM_006259	NP_006250	Q13237	KGP2_HUMAN			6	1003	-			330			cGMP 2.		B4DMX3|E7EPE6|O00125|O60916	Missense_Mutation	SNP	ENST00000395578.1	37	c.989A>G	CCDS3589.1	.	.	.	.	.	.	.	.	.	.	T	14.01	2.408128	0.42715	.	.	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486	D;D;D	0.93133	-3.17;-3.17;-3.17	6.08	3.34	0.38264	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.188427	0.56097	D	0.000034	D	0.87430	0.6175	L	0.31065	0.9	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.16722	0.016;0.005	T	0.81957	-0.0695	10	0.37606	T	0.19	-24.7393	9.6289	0.39768	0.1238:0.0:0.1145:0.7617	.	330;330	E7EPE6;Q13237	.;KGP2_HUMAN	R	330	ENSP00000378945:K330R;ENSP00000264399:K330R;ENSP00000389038:K330R	ENSP00000264399:K330R	K	-	2	0	PRKG2	82293823	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.066000	0.50002	1.093000	0.41377	0.482000	0.46254	AAG		0.333	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1	NM_006259	Missense_Mutation
MMRN1	22915	broad.mit.edu	37	4	90874400	90874400	+	Missense_Mutation	SNP	A	A	G			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr4:90874400A>G	ENST00000394980.1	+	9	3837	c.3518A>G	c.(3517-3519)gAg>gGg	p.E1173G	MMRN1_ENST00000508372.1_Missense_Mutation_p.E915G|MMRN1_ENST00000264790.2_Missense_Mutation_p.E1173G|MMRN1_ENST00000394981.1_Missense_Mutation_p.E476G			Q13201	MMRN1_HUMAN	multimerin 1	1173	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				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)		CTTGCATTTGAGTCTGAAAAT	0.368																																						uc003hst.2																			0				ovary(4)	4						c.(3517-3519)GAG>GGG		multimerin 1							134.0	136.0	135.0					4																	90874400		2203	4300	6503	SO:0001583	missense	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90874400A>G	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.3518A>G	4.37:g.90874400A>G	ENSP00000378431:p.Glu1173Gly					MMRN1_uc010iku.2_Missense_Mutation_p.E476G|MMRN1_uc011cds.1_Missense_Mutation_p.E915G	p.E1173G	NM_007351	NP_031377	Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	8	3589	+		Hepatocellular(203;0.114)	1173			C1q.		Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	c.3518A>G	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	A	18.87	3.714709	0.68730	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000394981;ENST00000508372	T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95	5.25	5.25	0.73442	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.094754	0.45867	D	0.000327	T	0.73118	0.3546	N	0.16903	0.455	0.26129	N	0.980447	D;D	0.71674	0.996;0.998	P;D	0.69824	0.9;0.966	T	0.65236	-0.6217	10	0.44086	T	0.13	.	9.7115	0.40247	0.9204:0.0:0.0796:0.0	.	476;1173	Q13201-2;Q13201	.;MMRN1_HUMAN	G	1173;1173;476;915	ENSP00000378431:E1173G;ENSP00000264790:E1173G;ENSP00000378432:E476G;ENSP00000426461:E915G	ENSP00000264790:E1173G	E	+	2	0	MMRN1	91093423	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.359000	0.59449	2.285000	0.76669	0.477000	0.44152	GAG		0.368	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351	
ZFP42	132625	broad.mit.edu	37	4	188924074	188924074	+	Missense_Mutation	SNP	C	C	T	rs535489031		TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr4:188924074C>T	ENST00000326866.4	+	4	521	c.113C>T	c.(112-114)gCg>gTg	p.A38V	ZFP42_ENST00000509524.1_Missense_Mutation_p.A38V	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	38					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GACCTGCAGGCGGAAATAGAA	0.572													C|||	1	0.000199681	0.0	0.0	5008	,	,		17336	0.0		0.001	False		,,,				2504	0.0					uc003izg.1																			0				ovary(1)|skin(1)	2						c.(112-114)GCG>GTG		zinc finger protein 42							98.0	86.0	90.0					4																	188924074		2203	4300	6503	SO:0001583	missense	132625				female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:188924074C>T	AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"""Zinc fingers, C2H2-type"""	30949	protein-coding gene	gene with protein product		614572	"""zinc finger protein 42 homolog (mouse)"", ""zinc finger protein 42"""			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.113C>T	4.37:g.188924074C>T	ENSP00000317686:p.Ala38Val					ZFP42_uc003izh.1_Missense_Mutation_p.A38V|ZFP42_uc003izi.1_Missense_Mutation_p.A38V	p.A38V	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)	3	358	+		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)	38					D3DP65|Q8WXE2	Missense_Mutation	SNP	ENST00000326866.4	37	c.113C>T	CCDS3849.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.904976	0.33628	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	T;T	0.11930	2.73;2.73	3.77	0.88	0.19161	.	0.656003	0.14546	N	0.312931	T	0.07683	0.0193	L	0.36672	1.1	0.09310	N	1	P	0.37061	0.58	B	0.18561	0.022	T	0.24225	-1.0166	10	0.72032	D	0.01	.	5.9053	0.18998	0.332:0.5704:0.0:0.0976	.	38	Q96MM3	ZFP42_HUMAN	V	38	ENSP00000317686:A38V;ENSP00000424662:A38V	ENSP00000317686:A38V	A	+	2	0	ZFP42	189161068	0.009000	0.17119	0.000000	0.03702	0.004000	0.04260	0.930000	0.28858	0.133000	0.18654	0.655000	0.94253	GCG		0.572	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900	
ZFP42	132625	broad.mit.edu	37	4	188924640	188924640	+	Missense_Mutation	SNP	G	G	A	rs200711766	byFrequency	TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr4:188924640G>A	ENST00000326866.4	+	4	1087	c.679G>A	c.(679-681)Gtt>Att	p.V227I	ZFP42_ENST00000509524.1_Missense_Mutation_p.V227I	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	227					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GAAAGCGTTCGTTGAGAGCTC	0.502													G|||	2	0.000399361	0.0008	0.0	5008	,	,		18767	0.0		0.001	False		,,,				2504	0.0					uc003izg.1																			0				ovary(1)|skin(1)	2						c.(679-681)GTT>ATT		zinc finger protein 42							118.0	123.0	122.0					4																	188924640		2203	4300	6503	SO:0001583	missense	132625				female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:188924640G>A	AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"""Zinc fingers, C2H2-type"""	30949	protein-coding gene	gene with protein product		614572	"""zinc finger protein 42 homolog (mouse)"", ""zinc finger protein 42"""			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.679G>A	4.37:g.188924640G>A	ENSP00000317686:p.Val227Ile					ZFP42_uc003izh.1_Missense_Mutation_p.V227I|ZFP42_uc003izi.1_Missense_Mutation_p.V227I	p.V227I	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)	3	924	+		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)	227			C2H2-type 2.		D3DP65|Q8WXE2	Missense_Mutation	SNP	ENST00000326866.4	37	c.679G>A	CCDS3849.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.42	1.345682	0.24426	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	T;T	0.41400	1.0;1.0	4.39	-8.78	0.00824	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.214960	0.06385	N	0.715986	T	0.16171	0.0389	N	0.16478	0.41	0.09310	N	1	B	0.27316	0.175	B	0.14023	0.01	T	0.08953	-1.0697	10	0.17832	T	0.49	.	1.3926	0.02253	0.1903:0.3391:0.2374:0.2333	.	227	Q96MM3	ZFP42_HUMAN	I	227	ENSP00000317686:V227I;ENSP00000424662:V227I	ENSP00000317686:V227I	V	+	1	0	ZFP42	189161634	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.295000	0.19065	-3.355000	0.00180	-0.892000	0.02923	GTT		0.502	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900	
ANKRA2	57763	broad.mit.edu	37	5	72857050	72857050	+	Missense_Mutation	SNP	G	G	A	rs553343150		TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr5:72857050G>A	ENST00000296785.3	-	3	1011	c.353C>T	c.(352-354)tCt>tTt	p.S118F		NM_023039.4	NP_075526.1	Q9H9E1	ANRA2_HUMAN	ankyrin repeat, family A (RFXANK-like), 2	118						cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	low-density lipoprotein particle binding (GO:0030169)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		Lung NSC(167;0.0378)|Ovarian(174;0.0908)		OV - Ovarian serous cystadenocarcinoma(47;3.71e-54)		CTTTGTTGTAGAGGGGGTGTA	0.388																																						uc003kcu.1																			0					0						c.(352-354)TCT>TTT		ankyrin repeat, family A (RFXANK-like), 2							270.0	240.0	250.0					5																	72857050		2203	4300	6503	SO:0001583	missense	57763					cytoskeleton|cytosol|membrane	low-density lipoprotein particle binding	g.chr5:72857050G>A	AA442702	CCDS4020.1	5q12-q13	2013-01-10			ENSG00000164331	ENSG00000164331		"""Ankyrin repeat domain containing"""	13208	protein-coding gene	gene with protein product		605787				10965114	Standard	NM_023039		Approved		uc003kcu.2	Q9H9E1	OTTHUMG00000102030	ENST00000296785.3:c.353C>T	5.37:g.72857050G>A	ENSP00000296785:p.Ser118Phe					ANKRA2_uc003kcv.2_Missense_Mutation_p.S118F	p.S118F	NM_023039	NP_075526	Q9H9E1	ANRA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.71e-54)	3	999	-		Lung NSC(167;0.0378)|Ovarian(174;0.0908)	118						Missense_Mutation	SNP	ENST00000296785.3	37	c.353C>T	CCDS4020.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.586996	0.86851	.	.	ENSG00000164331	ENST00000296785	T	0.40476	1.03	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.58949	0.2158	L	0.47716	1.5	0.80722	D	1	D	0.61697	0.99	D	0.69142	0.962	T	0.60110	-0.7327	10	0.56958	D	0.05	-13.5231	18.6566	0.91456	0.0:0.0:1.0:0.0	.	118	Q9H9E1	ANRA2_HUMAN	F	118	ENSP00000296785:S118F	ENSP00000296785:S118F	S	-	2	0	ANKRA2	72892806	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	9.476000	0.97823	2.391000	0.81399	0.557000	0.71058	TCT		0.388	ANKRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219814.2	NM_023039	
PCDHA1	56147	broad.mit.edu	37	5	140167547	140167547	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr5:140167547G>A	ENST00000504120.2	+	1	1672	c.1672G>A	c.(1672-1674)Gag>Aag	p.E558K	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Missense_Mutation_p.E558K	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	558	Cadherin 5. {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)			CGTGCTGGACGAGAACGACAA	0.672																																						uc003lhb.2																			0				skin(1)	1						c.(1672-1674)GAG>AAG		protocadherin alpha 1 isoform 1 precursor							86.0	88.0	87.0					5																	140167547		2203	4299	6502	SO:0001583	missense	56147				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140167547G>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.1672G>A	5.37:g.140167547G>A	ENSP00000420840:p.Glu558Lys					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Missense_Mutation_p.E558K	p.E558K	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1672	+			558			Cadherin 5.|Extracellular (Potential).		O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.1672G>A	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	g	17.25	3.342009	0.61073	.	.	ENSG00000204970	ENST00000504120;ENST00000378133	T;T	0.60920	0.15;0.15	3.68	3.68	0.42216	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.38272	U	0.001751	T	0.49626	0.1568	L	0.61387	1.9	0.25018	N	0.991356	D;D	0.55605	0.964;0.972	B;B	0.40864	0.223;0.342	T	0.54357	-0.8306	10	0.62326	D	0.03	.	7.0179	0.24899	0.1018:0.1934:0.7048:0.0	.	558;558	Q9Y5I3;Q9Y5I3-3	PCDA1_HUMAN;.	K	558	ENSP00000420840:E558K;ENSP00000367373:E558K	ENSP00000367373:E558K	E	+	1	0	PCDHA1	140147731	0.245000	0.23899	1.000000	0.80357	0.646000	0.38490	0.496000	0.22499	1.776000	0.52262	0.484000	0.47621	GAG		0.672	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900	
PCDHA8	56140	broad.mit.edu	37	5	140221381	140221381	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr5:140221381G>A	ENST00000531613.1	+	1	475	c.475G>A	c.(475-477)Gat>Aat	p.D159N	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.D159N|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	159	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCGCGTCCGATGCAGATGT	0.458																																						uc003lhs.2																			0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(475-477)GAT>AAT		protocadherin alpha 8 isoform 1 precursor							79.0	85.0	83.0					5																	140221381		2203	4300	6503	SO:0001583	missense	56140				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140221381G>A	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.475G>A	5.37:g.140221381G>A	ENSP00000434655:p.Asp159Asn					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.D159N	p.D159N	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	475	+			159			Cadherin 2.|Extracellular (Potential).		B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.475G>A	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	G	33	5.240440	0.95240	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.41400	1.0;1.0	3.72	3.72	0.42706	Cadherin (4);Cadherin-like (1);	0.000000	0.37857	U	0.001917	T	0.81384	0.4811	H	0.99911	4.935	0.43334	D	0.995373	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91098	0.4912	10	0.87932	D	0	.	15.9239	0.79597	0.0:0.0:1.0:0.0	.	159;159	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	N	159	ENSP00000434655:D159N;ENSP00000367363:D159N	ENSP00000367363:D159N	D	+	1	0	PCDHA8	140201565	1.000000	0.71417	0.246000	0.24233	0.363000	0.29612	9.504000	0.97986	1.794000	0.52575	0.552000	0.68991	GAT		0.458	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911	
PCDHGB4	8641	broad.mit.edu	37	5	140769126	140769126	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr5:140769126C>T	ENST00000519479.1	+	1	1675	c.1675C>T	c.(1675-1677)Cgg>Tgg	p.R559W	PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	559	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATGCGCCACGGGTGCTGTA	0.662																																						uc003lkc.1																			0					0						c.(1675-1677)CGG>TGG		protocadherin gamma subfamily B, 4 isoform 1							37.0	47.0	43.0					5																	140769126		2150	4254	6404	SO:0001583	missense	8641				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140769126C>T	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1675C>T	5.37:g.140769126C>T	ENSP00000428288:p.Arg559Trp					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.R559W	p.R559W	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1675	+			559			Cadherin 5.|Extracellular (Potential).		O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	ENST00000519479.1	37	c.1675C>T	CCDS54928.1	.	.	.	.	.	.	.	.	.	.	.	10.70	1.423499	0.25639	.	.	ENSG00000253953	ENST00000519479	T	0.39056	1.1	5.05	-1.25	0.09405	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.54240	0.1846	M	0.64997	1.995	0.09310	N	1	D;D	0.76494	0.987;0.999	P;P	0.57152	0.814;0.776	T	0.57124	-0.7865	9	0.66056	D	0.02	.	15.1845	0.72989	0.2959:0.6356:0.0685:0.0	.	559;559	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	W	559	ENSP00000428288:R559W	ENSP00000428288:R559W	R	+	1	2	PCDHGB4	140749310	0.000000	0.05858	0.013000	0.15412	0.056000	0.15407	-0.958000	0.03857	-0.351000	0.08249	-1.357000	0.01221	CGG		0.662	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736	
SLC36A3	285641	broad.mit.edu	37	5	150672978	150672978	+	Silent	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr5:150672978G>A	ENST00000335230.3	-	4	762	c.351C>T	c.(349-351)taC>taT	p.Y117Y	SLC36A3_ENST00000377713.3_Silent_p.Y117Y	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	117						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTTCAAGGCCGTACATCGTGG	0.428																																						uc003ltw.2																			0				ovary(2)|skin(1)	3						c.(349-351)TAC>TAT		solute carrier family 36, member 3 isoform 2							101.0	81.0	88.0					5																	150672978		2203	4300	6503	SO:0001819	synonymous_variant	285641					integral to membrane		g.chr5:150672978G>A	AY162215	CCDS4314.1, CCDS47316.1	5q33.1	2013-07-17	2013-07-17		ENSG00000186334	ENSG00000186334		"""Solute carriers"""	19659	protein-coding gene	gene with protein product		608332				12809675	Standard	NM_181774		Approved	PAT3, TRAMD2, tramdorin2	uc003ltw.2	Q495N2	OTTHUMG00000130128	ENST00000335230.3:c.351C>T	5.37:g.150672978G>A						GM2A_uc011dcs.1_Intron|SLC36A3_uc003ltv.2_Silent_p.Y61Y|SLC36A3_uc003ltx.2_Silent_p.Y117Y	p.Y117Y	NM_181774	NP_861439	Q495N2	S36A3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	770	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	117			Cytoplasmic (Potential).		Q495N3|Q6ZMU7|Q6ZRU4|Q7Z6B4	Silent	SNP	ENST00000335230.3	37	c.351C>T	CCDS4314.1																																																																																				0.428	SLC36A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252436.1	NM_181774	
ZSCAN9	7746	broad.mit.edu	37	6	28200919	28200919	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr6:28200919G>A	ENST00000252207.5	+	4	1296	c.1148G>A	c.(1147-1149)cGc>cAc	p.R383H	ZSCAN9_ENST00000425468.2_Missense_Mutation_p.R434H|ZSCAN9_ENST00000531979.1_Missense_Mutation_p.R383H	NM_006299.4	NP_006290.1	O15535	ZSC9_HUMAN	zinc finger and SCAN domain containing 9	383					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										AACCTCATTCGCCATCAGAAG	0.502																																						uc003nkq.1																			0					0						c.(1147-1149)CGC>CAC		zinc finger protein 193							95.0	83.0	87.0					6																	28200919		2203	4300	6503	SO:0001583	missense	7746				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28200919G>A	U62392	CCDS4646.1, CCDS56407.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000137185	ENSG00000137185		"""-"", ""Zinc fingers, C2H2-type"""	12984	protein-coding gene	gene with protein product		602246	"""zinc finger protein 193"""	ZNF193			Standard	NM_001199479		Approved	PRD51	uc003nkq.2	O15535	OTTHUMG00000014515	ENST00000252207.5:c.1148G>A	6.37:g.28200919G>A	ENSP00000252207:p.Arg383His					ZNF193_uc003nkr.1_Missense_Mutation_p.R383H|ZNF193_uc010jqz.1_Missense_Mutation_p.R434H	p.R383H	NM_006299	NP_006290	O15535	ZN193_HUMAN			4	1263	+			383			C2H2-type 5.		B4E1W6|E7EVQ2|Q2TTR1	Missense_Mutation	SNP	ENST00000252207.5	37	c.1148G>A	CCDS4646.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.955909	0.53293	.	.	ENSG00000137185	ENST00000425468;ENST00000252207;ENST00000531979	T;T;T	0.61627	0.09;0.09;0.09	4.85	-0.385	0.12470	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27205	0.0667	L	0.53561	1.675	0.09310	N	1	B;B	0.19445	0.036;0.036	B;B	0.11329	0.006;0.006	T	0.35151	-0.9800	9	0.62326	D	0.03	.	4.7569	0.13088	0.407:0.0:0.4485:0.1445	.	434;383	E7EVQ2;O15535	.;ZN193_HUMAN	H	434;383;383	ENSP00000404074:R434H;ENSP00000252207:R383H;ENSP00000433402:R383H	ENSP00000252207:R383H	R	+	2	0	ZNF193	28308898	0.005000	0.15991	0.510000	0.27712	0.737000	0.42083	-0.766000	0.04725	0.198000	0.20407	0.655000	0.94253	CGC		0.502	ZSCAN9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000040183.2	NM_006299	
EEF1A1	1915	broad.mit.edu	37	6	74228304	74228304	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr6:74228304C>T	ENST00000316292.9	-	5	1793	c.802G>A	c.(802-804)Gag>Aag	p.E268K	EEF1A1_ENST00000309268.6_Missense_Mutation_p.E268K|EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000331523.2_Missense_Mutation_p.E268K	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	268					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						ACACCAGTCTCCACTCGGCCA	0.418											OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc003phi.2																			0					0						c.(802-804)GAG>AAG		eukaryotic translation elongation factor 1 alpha							70.0	72.0	72.0					6																	74228304		2133	4268	6401	SO:0001583	missense	1915					cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr6:74228304C>T	BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"""leukocyte receptor cluster (LRC) member 7"""	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.802G>A	6.37:g.74228304C>T	ENSP00000339063:p.Glu268Lys		OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1151	EEF1A1_uc003phd.2_5'UTR|EEF1A1_uc003phe.2_Missense_Mutation_p.E258K|EEF1A1_uc003phf.2_Missense_Mutation_p.E268K|EEF1A1_uc003phg.2_Missense_Mutation_p.E268K|EEF1A1_uc003phh.2_Missense_Mutation_p.E114K|EEF1A1_uc003phj.2_Missense_Mutation_p.E268K|EEF1A1_uc003phk.2_Missense_Mutation_p.E268K|EEF1A1_uc003phl.2_Intron|EEF1A1_uc003phm.1_Intron	p.E268K	NM_001402	NP_001393	P68104	EF1A1_HUMAN			5	839	-			268					P04719|P04720|Q6IQ15	Missense_Mutation	SNP	ENST00000316292.9	37	c.802G>A	CCDS4980.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.076511|5.076511	0.94000|0.94000	.|.	.|.	ENSG00000156508|ENSG00000156508	ENST00000316292;ENST00000309268;ENST00000331523;ENST00000391977|ENST00000358190	T;T;T|.	0.66099|.	-0.19;-0.19;-0.19|.	4.71|4.71	4.71|4.71	0.59529|0.59529	Translation elongation factor EFTu/EF1A, domain 2 (2);Translation elongation/initiation factor/Ribosomal, beta-barrel (2);|.	0.126928|.	0.50627|.	U|.	0.000107|.	D|D	0.86372|0.86372	0.5917|0.5917	H|H	0.95950|0.95950	3.745|3.745	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;1.0;1.0;1.0|.	D|D	0.91047|0.91047	0.4875|0.4875	10|6	0.87932|0.87932	D|D	0|0	.|.	18.0919|18.0919	0.89478|0.89478	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	268;268;268;268|.	P68104;Q53HR5;Q6IPS9;Q5VTE0|.	EF1A1_HUMAN;.;.;EF1A3_HUMAN|.	K|E	268;268;268;247|267	ENSP00000339063:E268K;ENSP00000339053:E268K;ENSP00000330054:E268K|.	ENSP00000339053:E268K|ENSP00000350920:G267E	E|G	-|-	1|2	0|0	EEF1A1|EEF1A1	74285025|74285025	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.442000|7.442000	0.80503|0.80503	2.323000|2.323000	0.78572|0.78572	0.556000|0.556000	0.70494|0.70494	GAG|GGA		0.418	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402	
GPRC6A	222545	broad.mit.edu	37	6	117150029	117150031	+	In_Frame_Del	DEL	ACA	ACA	-			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr6:117150029_117150031delACA	ENST00000310357.3	-	1	167_169	c.146_148delTGT	c.(145-150)ttgtcc>tcc	p.L49del	GPRC6A_ENST00000368549.3_In_Frame_Del_p.L49del|GPRC6A_ENST00000530250.1_In_Frame_Del_p.L49del	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	49					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TCTTCTGAGGACAACATTTTTTC	0.443																																						uc003pxj.1																			0				ovary(4)|skin(2)	6						c.(145-150)TTGTCC>TCC		G protein-coupled receptor, family C, group 6,																																				SO:0001651	inframe_deletion	222545				response to amino acid stimulus		G-protein coupled receptor activity	g.chr6:117150029_117150031delACA	AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.146_148delTGT	6.37:g.117150032_117150034delACA	ENSP00000309493:p.Leu49del					GPRC6A_uc003pxk.1_In_Frame_Del_p.L49del|GPRC6A_uc003pxl.1_In_Frame_Del_p.L49del	p.L49del	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)	1	168_170	-		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	49			Extracellular (Potential).		Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	In_Frame_Del	DEL	ENST00000310357.3	37	c.146_148delTGT	CCDS5112.1																																																																																				0.443	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2		
HBS1L	10767	broad.mit.edu	37	6	135318720	135318720	+	Missense_Mutation	SNP	G	G	C			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr6:135318720G>C	ENST00000367837.5	-	6	820	c.614C>G	c.(613-615)tCt>tGt	p.S205C	HBS1L_ENST00000527578.1_Missense_Mutation_p.S41C|HBS1L_ENST00000367824.4_Missense_Mutation_p.S41C|HBS1L_ENST00000445176.2_Intron|HBS1L_ENST00000415177.2_Missense_Mutation_p.S140C|HBS1L_ENST00000367826.2_Missense_Mutation_p.S163C	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase	205					signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		AACATCGGAAGAAGCAATGGC	0.443																																						uc003qez.2																			0				skin(2)	2						c.(613-615)TCT>TGT		Hsp70 subfamily B suppressor 1-like protein							135.0	130.0	131.0					6																	135318720		2203	4300	6503	SO:0001583	missense	10767				signal transduction		GTP binding|GTPase activity|translation elongation factor activity	g.chr6:135318720G>C	U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"""eRF3 family member"""	612450	"""HBS1 (S. cerevisiae)-like"", ""HBS1-like (S. cerevisiae)"""			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.614C>G	6.37:g.135318720G>C	ENSP00000356811:p.Ser205Cys					HBS1L_uc003qey.2_Missense_Mutation_p.S41C|HBS1L_uc011ecy.1_Intron|HBS1L_uc011ecz.1_Missense_Mutation_p.S41C|HBS1L_uc011eda.1_Missense_Mutation_p.S163C	p.S205C	NM_006620	NP_006611	Q9Y450	HBS1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)	6	821	-	Colorectal(23;0.221)		205					B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Missense_Mutation	SNP	ENST00000367837.5	37	c.614C>G	CCDS5173.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.831922	0.32421	.	.	ENSG00000112339	ENST00000367837;ENST00000527578;ENST00000415177;ENST00000367826;ENST00000367824;ENST00000533274;ENST00000529641;ENST00000527507	T;T;T;T;T;T	0.65549	-0.12;-0.16;-0.13;-0.12;-0.16;-0.15	6.16	5.25	0.73442	.	1.161960	0.05788	N	0.609867	T	0.51024	0.1650	L	0.50333	1.59	0.80722	D	1	P;B	0.35050	0.482;0.232	B;B	0.39299	0.296;0.155	T	0.51834	-0.8655	10	0.72032	D	0.01	-4.9541	9.7552	0.40500	0.0727:0.1415:0.7858:0.0	.	163;205	Q9Y450-4;Q9Y450	.;HBS1L_HUMAN	C	205;41;140;163;41;75;41;41	ENSP00000356811:S205C;ENSP00000436256:S41C;ENSP00000389826:S140C;ENSP00000356800:S163C;ENSP00000356798:S41C;ENSP00000434533:S75C	ENSP00000356798:S41C	S	-	2	0	HBS1L	135360413	1.000000	0.71417	0.957000	0.39632	0.069000	0.16628	3.712000	0.54875	2.937000	0.99478	0.650000	0.86243	TCT		0.443	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042339.2		
BCLAF1	9774	broad.mit.edu	37	6	136582520	136582520	+	Silent	SNP	T	T	C	rs200948350		TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr6:136582520T>C	ENST00000531224.1	-	12	2892	c.2640A>G	c.(2638-2640)aaA>aaG	p.K880K	BCLAF1_ENST00000527759.1_Silent_p.K878K|BCLAF1_ENST00000530767.1_Silent_p.K707K|BCLAF1_ENST00000353331.4_Silent_p.K829K|BCLAF1_ENST00000527536.1_Silent_p.K831K|BCLAF1_ENST00000392348.2_Silent_p.K829K|BCLAF1_ENST00000031135.9_Silent_p.K98K|BCLAF1_ENST00000529917.1_5'UTR	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	880					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TGCTACCTGATTTTTTGAAGT	0.428																																					Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1																			0				ovary(1)	1						c.(2638-2640)AAA>AAG		BCL2-associated transcription factor 1 isoform							231.0	232.0	231.0					6																	136582520		2203	4300	6503	SO:0001819	synonymous_variant	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136582520T>C	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.2640A>G	6.37:g.136582520T>C						BCLAF1_uc011edb.1_Silent_p.K159K|BCLAF1_uc003qgw.1_Silent_p.K707K|BCLAF1_uc003qgy.1_Silent_p.K829K|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Silent_p.K878K	p.K880K	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	12	2893	-	Colorectal(23;0.24)		880					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Silent	SNP	ENST00000531224.1	37	c.2640A>G	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	T	6.207	0.406345	0.11754	.	.	ENSG00000029363	ENST00000534762	.	.	.	5.5	3.13	0.36017	.	.	.	.	.	T	0.44159	0.1280	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34304	-0.9834	4	.	.	.	-8.6626	8.7847	0.34814	0.0:0.2346:0.0:0.7654	.	.	.	.	V	147	.	.	I	-	1	0	BCLAF1	136624213	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.259000	0.43259	0.395000	0.25257	0.533000	0.62120	ATC		0.428	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739	
IFNGR1	3459	broad.mit.edu	37	6	137519737	137519737	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr6:137519737C>G	ENST00000367739.4	-	7	1022	c.901G>C	c.(901-903)Gaa>Caa	p.E301Q	IFNGR1_ENST00000543628.1_Missense_Mutation_p.E273Q	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	301					cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)|signal transduction (GO:0007165)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|vesicle (GO:0031982)	interferon-gamma receptor activity (GO:0004906)			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	TATTTTGATTCAGGTTTTGTC	0.393																																						uc003qho.2																			0				upper_aerodigestive_tract(1)	1						c.(901-903)GAA>CAA		interferon gamma receptor 1 precursor	Interferon gamma-1b(DB00033)						64.0	60.0	62.0					6																	137519737		2203	4300	6503	SO:0001583	missense	3459				regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity	g.chr6:137519737C>G		CCDS5185.1	6q23-q24	2014-09-17			ENSG00000027697	ENSG00000027697		"""Interferons"", ""CD molecules"""	5439	protein-coding gene	gene with protein product		107470		IFNGR			Standard	NM_000416		Approved	CD119	uc003qho.2	P15260	OTTHUMG00000015656	ENST00000367739.4:c.901G>C	6.37:g.137519737C>G	ENSP00000356713:p.Glu301Gln					IFNGR1_uc011edm.1_Missense_Mutation_p.E273Q	p.E301Q	NM_000416	NP_000407	P15260	INGR1_HUMAN		GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	7	1004	-	Colorectal(23;0.24)		301			Cytoplasmic (Potential).		B4DFT7|E1P587|Q53Y96	Missense_Mutation	SNP	ENST00000367739.4	37	c.901G>C	CCDS5185.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.227084	0.58668	.	.	ENSG00000027697	ENST00000367739;ENST00000543628	D;T	0.81821	-1.54;-1.34	5.9	5.02	0.67125	Interferon gamma receptor, poxvirus/mammal (1);	0.128112	0.30781	N	0.008893	D	0.84611	0.5510	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.981;0.989	D	0.86891	0.2048	10	0.72032	D	0.01	-7.4561	12.3	0.54868	0.1691:0.8309:0.0:0.0	.	273;301	F5H5M7;P15260	.;INGR1_HUMAN	Q	301;273	ENSP00000356713:E301Q;ENSP00000443282:E273Q	ENSP00000356713:E301Q	E	-	1	0	IFNGR1	137561430	0.998000	0.40836	0.997000	0.53966	0.496000	0.33645	2.395000	0.44459	1.459000	0.47892	0.655000	0.94253	GAA		0.393	IFNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042401.1		
SYNE1	23345	broad.mit.edu	37	6	152831380	152831380	+	Nonsense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr6:152831380G>A	ENST00000367255.5	-	8	1130	c.529C>T	c.(529-531)Caa>Taa	p.Q177*	SYNE1_ENST00000448038.1_Nonsense_Mutation_p.Q184*|SYNE1_ENST00000367253.4_Nonsense_Mutation_p.Q177*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.Q184*|SYNE1_ENST00000413186.2_Nonsense_Mutation_p.Q177*|SYNE1_ENST00000466159.2_Nonsense_Mutation_p.Q177*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.Q177*|SYNE1_ENST00000367248.3_Nonsense_Mutation_p.Q184*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.Q177*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	177	Actin-binding.				cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCATTTCCTTGGATCTTGGTG	0.453										HNSCC(10;0.0054)																												uc010kiw.2																			0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(529-531)CAA>TAA		spectrin repeat containing, nuclear envelope 1							213.0	195.0	201.0					6																	152831380		2203	4300	6503	SO:0001587	stop_gained	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152831380G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.529C>T	6.37:g.152831380G>A	ENSP00000356224:p.Gln177*	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Nonsense_Mutation_p.Q184*|SYNE1_uc003qou.3_Nonsense_Mutation_p.Q177*|SYNE1_uc010kjb.1_Nonsense_Mutation_p.Q177*|SYNE1_uc003qpa.1_Nonsense_Mutation_p.Q177*	p.Q177*	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	8	1131	-		Ovarian(120;0.0955)	177			Actin-binding.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Nonsense_Mutation	SNP	ENST00000367255.5	37	c.529C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	37	6.600458	0.97697	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000466159;ENST00000537750	.	.	.	5.52	5.52	0.82312	.	0.107337	0.41396	D	0.000884	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	19.4369	0.94799	0.0:0.0:1.0:0.0	.	.	.	.	X	177;184;177;184;177;177;184;177;177;177	.	ENSP00000265368:Q177X	Q	-	1	0	SYNE1	152873073	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	6.671000	0.74472	2.595000	0.87683	0.637000	0.83480	CAA		0.453	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
MAP3K4	4216	broad.mit.edu	37	6	161527602	161527602	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr6:161527602G>A	ENST00000392142.4	+	20	4061	c.3913G>A	c.(3913-3915)Gaa>Aaa	p.E1305K	MAP3K4_ENST00000366920.2_Missense_Mutation_p.E1301K|MAP3K4_ENST00000348824.7_Missense_Mutation_p.E1251K|MAP3K4_ENST00000366919.2_Missense_Mutation_p.E1255K	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1305					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CCGATTGTTTGAAGAAAAGAG	0.408																																						uc003qtn.2																			0				ovary(3)|lung(3)|skin(2)|stomach(1)	9						c.(3913-3915)GAA>AAA		mitogen-activated protein kinase kinase kinase 4							122.0	113.0	116.0					6																	161527602		2203	4300	6503	SO:0001583	missense	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161527602G>A	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.3913G>A	6.37:g.161527602G>A	ENSP00000375986:p.Glu1305Lys					MAP3K4_uc010kkc.1_Missense_Mutation_p.E1301K|MAP3K4_uc003qto.2_Missense_Mutation_p.E1255K|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Missense_Mutation_p.E758K|MAP3K4_uc003qtp.2_Missense_Mutation_p.E241K|MAP3K4_uc003qtq.2_5'UTR	p.E1305K	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	20	4055	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	1305					A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	c.3913G>A	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	G	32	5.192457	0.94960	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.71103	-0.52;-0.54;-0.54;-0.52	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.67543	0.2904	N	0.19112	0.55	0.80722	D	1	D;P;D;D	0.58268	0.967;0.954;0.977;0.982	D;B;P;P	0.63113	0.911;0.309;0.782;0.708	T	0.74551	-0.3628	10	0.66056	D	0.02	-24.7076	18.2015	0.89839	0.0:0.0:1.0:0.0	.	1301;241;1255;1305	F5H538;Q9P1M2;Q9Y6R4-2;Q9Y6R4	.;.;.;M3K4_HUMAN	K	1255;1305;1255;1301;1251	ENSP00000355886:E1255K;ENSP00000375986:E1305K;ENSP00000355887:E1301K;ENSP00000297332:E1251K	ENSP00000297332:E1251K	E	+	1	0	MAP3K4	161447592	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.476000	0.97823	2.271000	0.75665	0.650000	0.86243	GAA		0.408	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3		
MAP3K4	4216	broad.mit.edu	37	6	161527656	161527656	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr6:161527656G>A	ENST00000392142.4	+	20	4115	c.3967G>A	c.(3967-3969)Gat>Aat	p.D1323N	MAP3K4_ENST00000366920.2_Missense_Mutation_p.D1319N|MAP3K4_ENST00000348824.7_Missense_Mutation_p.D1269N|MAP3K4_ENST00000366919.2_Missense_Mutation_p.D1273N	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1323					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TCAAGTTTGTGATACGCCTAA	0.398																																						uc003qtn.2																			0				ovary(3)|lung(3)|skin(2)|stomach(1)	9						c.(3967-3969)GAT>AAT		mitogen-activated protein kinase kinase kinase 4							176.0	160.0	166.0					6																	161527656		2203	4300	6503	SO:0001583	missense	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161527656G>A	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.3967G>A	6.37:g.161527656G>A	ENSP00000375986:p.Asp1323Asn					MAP3K4_uc010kkc.1_Missense_Mutation_p.D1319N|MAP3K4_uc003qto.2_Missense_Mutation_p.D1273N|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Missense_Mutation_p.D776N|MAP3K4_uc003qtp.2_Missense_Mutation_p.D259N|MAP3K4_uc003qtq.2_Missense_Mutation_p.D12N	p.D1323N	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	20	4109	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	1323					A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	c.3967G>A	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.979711	0.53827	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.72394	-0.56;-0.65;-0.65;-0.56	4.85	4.85	0.62838	.	0.068819	0.64402	D	0.000017	T	0.40839	0.1133	N	0.08118	0	0.43761	D	0.996273	B;B;B;B	0.16166	0.004;0.002;0.013;0.016	B;B;B;B	0.17722	0.019;0.003;0.013;0.009	T	0.41680	-0.9495	10	0.51188	T	0.08	-26.0708	17.9942	0.89177	0.0:0.0:1.0:0.0	.	1319;259;1273;1323	F5H538;Q9P1M2;Q9Y6R4-2;Q9Y6R4	.;.;.;M3K4_HUMAN	N	1273;1323;1273;1319;1269	ENSP00000355886:D1273N;ENSP00000375986:D1323N;ENSP00000355887:D1319N;ENSP00000297332:D1269N	ENSP00000297332:D1269N	D	+	1	0	MAP3K4	161447646	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	5.670000	0.68088	2.223000	0.72356	0.585000	0.79938	GAT		0.398	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3		
ELMO1	9844	broad.mit.edu	37	7	37354483	37354483	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr7:37354483C>T	ENST00000310758.4	-	4	810	c.163G>A	c.(163-165)Gat>Aat	p.D55N	ELMO1_ENST00000442504.1_Missense_Mutation_p.D55N|ELMO1_ENST00000448602.1_Missense_Mutation_p.D55N	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	55					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TTTGAACTATCGGCATGCTGG	0.323																																						uc003tfk.1																			0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						c.(163-165)GAT>AAT		engulfment and cell motility 1 isoform 1							112.0	106.0	108.0					7																	37354483		2203	4300	6503	SO:0001583	missense	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:37354483C>T	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.163G>A	7.37:g.37354483C>T	ENSP00000312185:p.Asp55Asn					ELMO1_uc010kxg.1_Missense_Mutation_p.D55N	p.D55N	NM_014800	NP_055615	Q92556	ELMO1_HUMAN			4	470	-			55					A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	c.163G>A	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.553375	0.86127	.	.	ENSG00000155849	ENST00000310758;ENST00000442504;ENST00000448602;ENST00000455119;ENST00000455879;ENST00000453399;ENST00000445322	T;T;T;T;T;T;T	0.73681	2.27;2.27;2.27;1.21;1.19;-0.77;0.05	4.85	4.85	0.62838	.	0.056896	0.64402	D	0.000002	D	0.84790	0.5550	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	D	0.86168	0.1598	10	0.72032	D	0.01	.	16.3012	0.82816	0.0:1.0:0.0:0.0	.	55	Q92556	ELMO1_HUMAN	N	55	ENSP00000312185:D55N;ENSP00000406952:D55N;ENSP00000394458:D55N;ENSP00000406610:D55N;ENSP00000416090:D55N;ENSP00000391734:D55N;ENSP00000397857:D55N	ENSP00000312185:D55N	D	-	1	0	ELMO1	37321008	0.998000	0.40836	0.803000	0.32268	0.982000	0.71751	5.396000	0.66297	2.705000	0.92388	0.650000	0.86243	GAT		0.323	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442	
EGFR	1956	broad.mit.edu	37	7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	rs139236063		TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr7:55233043G>T	ENST00000275493.2	+	15	1970	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_ENST00000342916.3_Missense_Mutation_p.G598V|EGFR_ENST00000344576.2_Missense_Mutation_p.G598V|EGFR_ENST00000442591.1_Missense_Mutation_p.G598V|EGFR_ENST00000454757.2_Missense_Mutation_p.G545V|EGFR_ENST00000455089.1_Missense_Mutation_p.G553V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	598					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.G598V(15)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		15	Substitution - Missense(15)	p.G598V(16)	central_nervous_system(15)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(1792-1794)GGA>GTA		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						96.0	84.0	88.0					7																	55233043		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55233043G>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1793G>T	7.37:g.55233043G>T	ENSP00000275493:p.Gly598Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqi.2_Missense_Mutation_p.G598V|EGFR_uc003tqj.2_Missense_Mutation_p.G598V|EGFR_uc010kzg.1_Missense_Mutation_p.G553V|EGFR_uc011kco.1_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_RNA|EGFR_uc003tqn.2_RNA	p.G598V	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		15	2039	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		598			Approximate.|Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1793G>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567929	0.86439	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06	5.87	5.87	0.94306	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.75671	0.3881	H	0.94503	3.545	0.80722	D	1	D;D;D;D	0.89917	0.991;0.999;0.998;1.0	P;D;D;D	0.91635	0.729;0.924;0.977;0.999	T	0.81858	-0.0739	10	0.72032	D	0.01	.	18.7698	0.91887	0.0:0.0:1.0:0.0	.	553;598;598;598	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	V	553;598;468;598;598;598;545;392	ENSP00000415559:G553V;ENSP00000342376:G598V;ENSP00000345973:G598V;ENSP00000275493:G598V;ENSP00000410031:G598V;ENSP00000395243:G545V	ENSP00000275493:G598V	G	+	2	0	EGFR	55200537	1.000000	0.71417	0.454000	0.27019	0.665000	0.39181	7.905000	0.87416	2.785000	0.95823	0.655000	0.94253	GGA		0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
TYW1B	441250	broad.mit.edu	37	7	72093896	72093896	+	RNA	SNP	C	C	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr7:72093896C>T	ENST00000435769.2	-	0	1716				TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000343721.5_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										AGTCAGGATTCCCCAGGGACA	0.537																																						uc011kej.1																			0					0						c.(1591-1593)GGG>GGA		tRNA-yW synthesizing protein 1 homolog B isoform							42.0	47.0	46.0					7																	72093896		692	1590	2282			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72093896C>T	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72093896C>T						TYW1B_uc011keh.1_Silent_p.G369G|TYW1B_uc011kei.1_Silent_p.G157G	p.G531G	NM_001145440	NP_001138912	Q6NUM6	TYW1B_HUMAN			15	1752	-			531					A6NG09|B4DFY2|Q3KQX2	Silent	SNP	ENST00000435769.2	37	c.1593G>A																																																																																					0.537	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440	
NCF1C	654817	broad.mit.edu	37	7	74573755	74573755	+	IGR	SNP	G	G	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr7:74573755G>T								GTF2IRD2B (8132 upstream) : Y_RNA (139091 downstream)																							TGGACGGAAAGTAGCCTGTGA	0.652																																						uc003ubv.2																			0					0						c.(748-750)TAC>TAA		RecName: Full=Putative neutrophil cytosol factor 1C;          Short=NCF-1C; AltName: Full=Putative SH3 and PX domain-containing protein 1C;																																				SO:0001628	intergenic_variant	654817							g.chr7:74573755G>T																													7.37:g.74573755G>T							p.Y250*	NR_003187						9	832	-									Nonsense_Mutation	SNP		37	c.750C>A																																																																																				0	0.652								
IFT22	64792	broad.mit.edu	37	7	100959711	100959711	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr7:100959711C>A	ENST00000315322.4	-	4	412	c.319G>T	c.(319-321)Gtc>Ttc	p.V107F	RABL5_ENST00000517481.1_Missense_Mutation_p.V30F|RABL5_ENST00000437644.2_Missense_Mutation_p.V77F|RABL5_ENST00000498704.2_Missense_Mutation_p.V30F|RABL5_ENST00000495166.1_5'UTR	NM_022777.2	NP_073614.1	Q9H7X7	IFT22_HUMAN		107					small GTPase mediated signal transduction (GO:0007264)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)	GTP binding (GO:0005525)	p.V107F(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.215)					GGCTGTTGGACAAAGCAGGAA	0.502																																						uc003uyl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(319-321)GTC>TTC		RAB, member RAS oncogene family-like 5 isoform							208.0	177.0	187.0					7																	100959711		2203	4300	6503	SO:0001583	missense	64792						GTP binding	g.chr7:100959711C>A																												ENST00000315322.4:c.319G>T	7.37:g.100959711C>A	ENSP00000320359:p.Val107Phe					RABL5_uc011kkk.1_Missense_Mutation_p.V30F|RABL5_uc011kkl.1_Missense_Mutation_p.V30F|RABL5_uc003uym.2_Missense_Mutation_p.V77F|RABL5_uc010lhw.2_RNA|RABL5_uc011kkm.1_Missense_Mutation_p.V107F	p.V107F	NM_022777	NP_073614	Q9H7X7	RABL5_HUMAN			4	422	-	Lung NSC(181;0.215)		107					Q49AG1|Q69YV5|Q9BSW4	Missense_Mutation	SNP	ENST00000315322.4	37	c.319G>T	CCDS5719.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.121447	0.77436	.	.	ENSG00000128581	ENST00000517481;ENST00000315322;ENST00000498704;ENST00000437644	T;T	0.79940	-1.07;-1.32	6.08	6.08	0.98989	.	0.117202	0.64402	D	0.000015	D	0.86293	0.5898	M	0.64997	1.995	0.45733	D	0.998639	D;D;D	0.58970	0.984;0.976;0.958	D;P;P	0.65233	0.933;0.613;0.885	D	0.85678	0.1299	10	0.51188	T	0.08	-44.9872	11.4275	0.50020	0.0:0.9188:0.0:0.0812	.	107;77;107	B7Z2E8;Q9H7X7-2;Q9H7X7	.;.;RABL5_HUMAN	F	30;107;30;77	ENSP00000320359:V107F;ENSP00000390770:V77F	ENSP00000320359:V107F	V	-	1	0	RABL5	100746431	0.999000	0.42202	0.997000	0.53966	0.946000	0.59487	3.601000	0.54059	2.890000	0.99128	0.655000	0.94253	GTC		0.502	RABL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347565.1		
SLC26A5	375611	broad.mit.edu	37	7	103050961	103050961	+	Silent	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr7:103050961G>A	ENST00000306312.3	-	7	867	c.606C>T	c.(604-606)gcC>gcT	p.A202A	SLC26A5_ENST00000432958.2_Silent_p.A202A|SLC26A5_ENST00000393735.2_Silent_p.A202A|SLC26A5_ENST00000393727.1_Silent_p.A202A|SLC26A5_ENST00000356767.4_Silent_p.A202A|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000393723.1_Silent_p.A202A|SLC26A5_ENST00000393730.1_Silent_p.A202A|SLC26A5_ENST00000393729.1_Silent_p.A165A|SLC26A5_ENST00000339444.6_Silent_p.A202A	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	202					regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)	p.A202A(1)		endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						TGAGATATATGGCCACAAATC	0.408																																						uc003vbz.2																			1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	ovary(1)	1						c.(604-606)GCC>GCT		prestin isoform a							69.0	68.0	68.0					7																	103050961		2203	4300	6503	SO:0001819	synonymous_variant	375611				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	g.chr7:103050961G>A	AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"""Solute carriers"""	9359	protein-coding gene	gene with protein product	"""deafness, neurosensory, autosomal recessive, 61"""	604943	"""prestin (motor protein)"""	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.606C>T	7.37:g.103050961G>A						SLC26A5_uc003vbt.1_Silent_p.A202A|SLC26A5_uc003vbu.1_Silent_p.A202A|SLC26A5_uc003vbv.1_Silent_p.A202A|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Silent_p.A202A|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_RNA	p.A202A	NM_198999	NP_945350	P58743	S26A5_HUMAN			7	842	-			202			Helical; Name=4; (Potential).		Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Silent	SNP	ENST00000306312.3	37	c.606C>T	CCDS5733.1																																																																																				0.408	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1	NM_198999	
NUP205	23165	broad.mit.edu	37	7	135304420	135304420	+	Missense_Mutation	SNP	G	G	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr7:135304420G>T	ENST00000285968.6	+	29	4239	c.4213G>T	c.(4213-4215)Gac>Tac	p.D1405Y		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1405					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GAAACTGTTAGACTTCATTTT	0.303																																						uc003vsw.2																			0				ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(4213-4215)GAC>TAC		nucleoporin 205kDa							49.0	52.0	51.0					7																	135304420		2203	4300	6503	SO:0001583	missense	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135304420G>T	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.4213G>T	7.37:g.135304420G>T	ENSP00000285968:p.Asp1405Tyr					NUP205_uc003vsx.2_5'Flank	p.D1405Y	NM_015135	NP_055950	Q92621	NU205_HUMAN			29	4244	+			1405					A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	c.4213G>T	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	g	17.49	3.403480	0.62288	.	.	ENSG00000155561	ENST00000285968	T	0.34072	1.38	5.67	4.8	0.61643	.	0.126143	0.64402	D	0.000001	T	0.54532	0.1864	L	0.58101	1.795	0.80722	D	1	D	0.76494	0.999	D	0.66847	0.947	T	0.55724	-0.8096	10	0.49607	T	0.09	-26.7751	14.9161	0.70798	0.0686:0.0:0.9314:0.0	.	1405	Q92621	NU205_HUMAN	Y	1405	ENSP00000285968:D1405Y	ENSP00000285968:D1405Y	D	+	1	0	NUP205	134954960	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.604000	0.67626	1.413000	0.46997	-0.336000	0.08194	GAC		0.303	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1		
KEL	3792	broad.mit.edu	37	7	142650951	142650951	+	Silent	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr7:142650951G>A	ENST00000355265.2	-	9	1491	c.1017C>T	c.(1015-1017)gaC>gaT	p.D339D	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	339					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AATATTCCACGTCATGGACCA	0.537																																						uc003wcb.2																			0				ovary(3)|central_nervous_system(1)	4						c.(1015-1017)GAC>GAT		Kell blood group, metallo-endopeptidase							199.0	197.0	197.0					7																	142650951		2203	4300	6503	SO:0001819	synonymous_variant	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142650951G>A	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1017C>T	7.37:g.142650951G>A							p.D339D	NM_000420	NP_000411	P23276	KELL_HUMAN			9	1227	-	Melanoma(164;0.059)		339			Extracellular (Potential).		B2RBV4|Q96RS8|Q99885	Silent	SNP	ENST00000355265.2	37	c.1017C>T	CCDS34766.1																																																																																				0.537	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420	
ARHGEF35	445328	broad.mit.edu	37	7	143884178	143884178	+	Silent	SNP	G	G	A	rs140097295		TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr7:143884178G>A	ENST00000378115.2	-	2	1428	c.1299C>T	c.(1297-1299)ccC>ccT	p.P433P	ARHGEF35_ENST00000543357.1_Silent_p.P433P	NM_001003702.2	NP_001003702.2	A5YM69	ARG35_HUMAN	Rho guanine nucleotide exchange factor (GEF) 35	433										kidney(1)|large_intestine(1)|lung(3)|stomach(1)	6						TCTGAGTCCCGGGAATCTGAG	0.567																																						uc003wdz.1																			0					0						c.(1297-1299)CCC>CCT		Rho guanine nucleotide exchange factor (GEF)		G		2,4214		0,2,2106	15.0	16.0	16.0		1299	-4.7	0.0	7	dbSNP_134	16	1,8137		0,1,4068	no	coding-synonymous	ARHGEF35	NM_001003702.2		0,3,6174	AA,AG,GG		0.0123,0.0474,0.0243		433/485	143884178	3,12351	2108	4069	6177	SO:0001819	synonymous_variant	445328							g.chr7:143884178G>A	AK125680	CCDS34770.1	7q35	2012-07-24	2010-04-13	2010-04-13	ENSG00000213214	ENSG00000213214		"""Rho guanine nucleotide exchange factors"""	33846	protein-coding gene	gene with protein product			"""Rho guanine nucleotide exchange factor (GEF) 5-like"""	ARHGEF5L			Standard	NM_001003702		Approved	FLJ43692, CTAGE4	uc003wdz.2	A5YM69	OTTHUMG00000158010	ENST00000378115.2:c.1299C>T	7.37:g.143884178G>A							p.P433P	NM_001003702	NP_001003702	A5YM69	ARG35_HUMAN			2	1417	-			433					Q6ZUI2	Silent	SNP	ENST00000378115.2	37	c.1299C>T	CCDS34770.1																																																																																				0.567	ARHGEF35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349997.1	NM_001003702	
ADAM28	10863	broad.mit.edu	37	8	24181418	24181418	+	Silent	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr8:24181418G>A	ENST00000265769.4	+	9	902	c.792G>A	c.(790-792)aaG>aaA	p.K264K	ADAM28_ENST00000540823.1_Silent_p.K31K|ADAM28_ENST00000518516.1_3'UTR|ADAM28_ENST00000397649.3_Silent_p.K11K|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000437154.2_Silent_p.K264K|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	264	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		ATAAGATAAAGATAACCCCAA	0.383																																					NSCLC(193;488 2149 22258 34798 40734)	uc003xdy.2																			0				skin(3)|lung(1)|central_nervous_system(1)	5						c.(790-792)AAG>AAA		ADAM metallopeptidase domain 28 isoform 1							108.0	109.0	109.0					8																	24181418		2203	4299	6502	SO:0001819	synonymous_variant	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24181418G>A	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.792G>A	8.37:g.24181418G>A						ADAM28_uc003xdx.2_Silent_p.K264K|ADAM28_uc011kzz.1_Silent_p.K31K|ADAM28_uc011laa.1_RNA|ADAM28_uc010lua.2_5'Flank	p.K264K	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	9	875	+		Prostate(55;0.0959)	264			Peptidase M12B.|Extracellular (Potential).		B2RMV5|Q9Y339|Q9Y3S0	Silent	SNP	ENST00000265769.4	37	c.792G>A	CCDS34865.1																																																																																				0.383	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778	
JPH1	56704	broad.mit.edu	37	8	75171695	75171695	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr8:75171695C>T	ENST00000342232.4	-	3	1223	c.1183G>A	c.(1183-1185)Gcg>Acg	p.A395T		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	395	Ala-rich.				calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.A395T(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GCGGCCAGCGCGGCCTGGTCG	0.597																																						uc003yae.2																			1	Substitution - Missense(1)		ovary(1)	ovary(1)	1						c.(1183-1185)GCG>ACG		junctophilin 1							31.0	33.0	32.0					8																	75171695		2202	4299	6501	SO:0001583	missense	56704				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr8:75171695C>T	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.1183G>A	8.37:g.75171695C>T	ENSP00000344488:p.Ala395Thr					JPH1_uc003yaf.2_Missense_Mutation_p.A395T|JPH1_uc003yag.1_Missense_Mutation_p.A259T	p.A395T	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		3	1223	-	Breast(64;0.00576)		395			Ala-rich.|Cytoplasmic (Potential).		B2RTZ0	Missense_Mutation	SNP	ENST00000342232.4	37	c.1183G>A	CCDS6217.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.489664	0.64074	.	.	ENSG00000104369	ENST00000342232	T	0.77877	-1.13	5.1	5.1	0.69264	.	0.055496	0.64402	D	0.000001	T	0.76870	0.4048	M	0.84219	2.685	0.43080	D	0.994732	P	0.52842	0.956	B	0.39299	0.296	T	0.81908	-0.0717	10	0.72032	D	0.01	.	11.2516	0.49028	0.0:0.9151:0.0:0.0849	.	395	Q9HDC5	JPH1_HUMAN	T	395	ENSP00000344488:A395T	ENSP00000344488:A395T	A	-	1	0	JPH1	75334249	1.000000	0.71417	0.753000	0.31225	0.446000	0.32137	3.617000	0.54181	2.809000	0.96659	0.655000	0.94253	GCG		0.597	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1		
ENPP2	5168	broad.mit.edu	37	8	120629796	120629796	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr8:120629796G>A	ENST00000075322.6	-	6	545	c.487C>T	c.(487-489)Cgc>Tgc	p.R163C	ENPP2_ENST00000259486.6_Missense_Mutation_p.R163C|ENPP2_ENST00000522826.1_Missense_Mutation_p.R163C|ENPP2_ENST00000427067.2_Missense_Mutation_p.R159C	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	163					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AATGGAGGGCGAACAAACCTT	0.368																																					Melanoma(20;305 879 2501 4818 31020)	uc003yot.1																			0				ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7						c.(487-489)CGC>TGC		autotaxin isoform 2 preproprotein							59.0	56.0	57.0					8																	120629796		2203	4300	6503	SO:0001583	missense	5168				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120629796G>A	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.487C>T	8.37:g.120629796G>A	ENSP00000075322:p.Arg163Cys					ENPP2_uc003yos.1_Missense_Mutation_p.R163C|ENPP2_uc010mdd.1_Missense_Mutation_p.R163C	p.R163C	NM_001040092	NP_001035181	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		6	573	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		163					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	c.487C>T	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.522246	0.85600	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522826;ENST00000075322;ENST00000520066	T;T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04;-1.04	5.95	5.95	0.96441	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.88009	0.6322	M	0.69358	2.11	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	D	0.87424	0.2384	10	0.62326	D	0.03	.	20.4024	0.99000	0.0:0.0:1.0:0.0	.	163;163;163	E9PHP7;Q13822;Q13822-2	.;ENPP2_HUMAN;.	C	163;159;163;163;145	ENSP00000259486:R163C;ENSP00000403315:R159C;ENSP00000428291:R163C;ENSP00000075322:R163C;ENSP00000428304:R145C	ENSP00000075322:R163C	R	-	1	0	ENPP2	120698977	1.000000	0.71417	0.999000	0.59377	0.569000	0.35902	6.615000	0.74201	2.827000	0.97445	0.650000	0.86243	CGC		0.368	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1		
TSNARE1	203062	broad.mit.edu	37	8	143310871	143310871	+	Missense_Mutation	SNP	T	T	C			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr8:143310871T>C	ENST00000307180.3	-	13	1633	c.1516A>G	c.(1516-1518)Atc>Gtc	p.I506V	TSNARE1_ENST00000524325.1_Missense_Mutation_p.I505V|TSNARE1_ENST00000520166.1_Missense_Mutation_p.I506V	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	506	Poly-Ile.				intracellular protein transport (GO:0006886)|synaptic vesicle exocytosis (GO:0016079)	integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GTGGCGATGATGATGATGATG	0.512																																						uc003ywk.2																			0					0						c.(1516-1518)ATC>GTC		t-SNARE domain containing 1							310.0	200.0	237.0					8																	143310871		2203	4300	6503	SO:0001583	missense	203062				vesicle-mediated transport	integral to membrane		g.chr8:143310871T>C			8q24.3	2005-08-18							26437	protein-coding gene	gene with protein product						14702039	Standard	XM_005250828		Approved	FLJ31164	uc003ywk.3	Q96NA8		ENST00000307180.3:c.1516A>G	8.37:g.143310871T>C	ENSP00000303437:p.Ile506Val					TSNARE1_uc011lju.1_Missense_Mutation_p.I505V|TSNARE1_uc003ywj.2_Missense_Mutation_p.I507V	p.I506V	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN			13	1634	-	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		506			Poly-Ile.|Helical; (Potential).		B7ZLB0|Q14D03	Missense_Mutation	SNP	ENST00000307180.3	37	c.1516A>G	CCDS6384.1	.	.	.	.	.	.	.	.	.	.	T	0.088	-1.171690	0.01646	.	.	ENSG00000171045	ENST00000524325;ENST00000307180;ENST00000520166	T;T;T	0.12984	2.63;2.64;2.64	2.42	-4.84	0.03151	.	.	.	.	.	T	0.06917	0.0176	N	0.19112	0.55	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.35375	-0.9791	9	0.34782	T	0.22	.	5.7544	0.18164	0.0:0.4964:0.1747:0.329	.	505;506;507	B7ZLB0;Q96NA8;A0AVG3	.;TSNA1_HUMAN;.	V	505;506;506	ENSP00000428763:I505V;ENSP00000303437:I506V;ENSP00000427770:I506V	ENSP00000303437:I506V	I	-	1	0	TSNARE1	143308778	0.014000	0.17966	0.001000	0.08648	0.024000	0.10985	-0.066000	0.11598	-1.327000	0.02264	-0.581000	0.04135	ATC		0.512	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_145003	
EPB41L4B	54566	broad.mit.edu	37	9	112017853	112017853	+	Silent	SNP	C	C	T	rs377599387		TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr9:112017853C>T	ENST00000374566.3	-	11	1624	c.1107G>A	c.(1105-1107)acG>acA	p.T369T	EPB41L4B_ENST00000374557.4_Silent_p.T369T	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	369	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGTTTCCTGGCGTCCGCAGTC	0.522																																						uc004bdz.1																			0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1105-1107)ACG>ACA		erythrocyte membrane protein band 4.1 like 4B		C	,	2,3888		0,2,1943	120.0	112.0	115.0		1107,1107	-4.4	0.0	9		115	0,8302		0,0,4151	no	coding-synonymous,coding-synonymous	EPB41L4B	NM_018424.2,NM_019114.3	,	0,2,6094	TT,TC,CC		0.0,0.0514,0.0164	,	369/519,369/901	112017853	2,12190	1945	4151	6096	SO:0001819	synonymous_variant	54566					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	g.chr9:112017853C>T	AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.1107G>A	9.37:g.112017853C>T						EPB41L4B_uc004bea.2_Silent_p.T369T	p.T369T	NM_019114	NP_061987	Q9H329	E41LB_HUMAN			11	1402	-			369			FERM.		Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Silent	SNP	ENST00000374566.3	37	c.1107G>A	CCDS43859.1																																																																																				0.522	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424	
CHDC2	286464	broad.mit.edu	37	X	36103536	36103536	+	Silent	SNP	C	C	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chrX:36103536C>T	ENST00000313548.4	+	5	708	c.522C>T	c.(520-522)ctC>ctT	p.L174L		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	174						integral component of membrane (GO:0016021)											ATGTGCTGCTCCATTTGAGTG	0.353																																						uc004ddk.1																			0				central_nervous_system(1)	1						c.(520-522)CTC>CTT		hypothetical protein LOC286464							90.0	85.0	87.0					X																	36103536		2202	4300	6502	SO:0001819	synonymous_variant	286464					integral to membrane		g.chrX:36103536C>T	AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"""chromosome X open reading frame 59"""	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.522C>T	X.37:g.36103536C>T							p.L174L	NM_173695	NP_775966	Q8N9S7	CX059_HUMAN			5	708	+			174						Silent	SNP	ENST00000313548.4	37	c.522C>T	CCDS14238.1																																																																																				0.353	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173695	
HDAC6	10013	broad.mit.edu	37	X	48661362	48661362	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chrX:48661362G>A	ENST00000334136.5	+	3	356	c.178G>A	c.(178-180)Ggc>Agc	p.G60S	HDAC6_ENST00000469223.1_3'UTR|HDAC6_ENST00000413163.2_Missense_Mutation_p.G5S|HDAC6_ENST00000376619.2_Missense_Mutation_p.G60S|HDAC6_ENST00000444343.2_Missense_Mutation_p.G74S			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	60					aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GAAGAAGCTCGGCCAAGCAAT	0.488																																					Pancreas(112;205 1675 2305 8976 15959)	uc011mmi.1																			0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(178-180)GGC>AGC		histone deacetylase 6	Vorinostat(DB02546)						74.0	59.0	64.0					X																	48661362		2203	4300	6503	SO:0001583	missense	10013				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding	g.chrX:48661362G>A	AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 90"""	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.178G>A	X.37:g.48661362G>A	ENSP00000334061:p.Gly60Ser					HDAC6_uc004dkr.1_Missense_Mutation_p.G60S|HDAC6_uc004dks.1_Missense_Mutation_p.G60S|HDAC6_uc010nig.1_5'UTR|HDAC6_uc004dkt.1_Missense_Mutation_p.G60S|HDAC6_uc004dku.3_Missense_Mutation_p.G60S|HDAC6_uc011mmj.1_Missense_Mutation_p.G5S|HDAC6_uc011mmk.1_Missense_Mutation_p.G41S	p.G60S	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN			3	273	+			60					O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	ENST00000334136.5	37	c.178G>A	CCDS14306.1	.	.	.	.	.	.	.	.	.	.	G	3.227	-0.158355	0.06544	.	.	ENSG00000094631	ENST00000423941;ENST00000376643;ENST00000444343;ENST00000376610;ENST00000334136;ENST00000376619;ENST00000436813;ENST00000413163;ENST00000441703;ENST00000426196;ENST00000443563;ENST00000440653	T;T;T;T	0.62364	0.38;0.38;0.38;0.03	4.42	3.31	0.37934	.	0.185457	0.44483	N	0.000451	T	0.26702	0.0653	N	0.02539	-0.55	0.21762	N	0.999554	B;B;B;B	0.15473	0.005;0.001;0.005;0.013	B;B;B;B	0.08055	0.001;0.0;0.001;0.003	T	0.30794	-0.9966	10	0.02654	T	1	-4.1002	5.8509	0.18691	0.8577:0.0:0.1423:0.0	.	50;5;60;60	B4DZN1;E7EUZ1;Q9UBN7;Q9BRX7	.;.;HDAC6_HUMAN;.	S	60;60;74;60;60;60;60;5;60;60;60;60	ENSP00000398566:G74S;ENSP00000334061:G60S;ENSP00000365804:G60S;ENSP00000398801:G5S	ENSP00000334061:G60S	G	+	1	0	HDAC6	48546306	0.971000	0.33674	0.948000	0.38648	0.618000	0.37518	2.045000	0.41250	0.702000	0.31825	0.600000	0.82982	GGC		0.488	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044	
SMC1A	8243	broad.mit.edu	37	X	53439144	53439144	+	Missense_Mutation	SNP	G	G	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chrX:53439144G>T	ENST00000322213.4	-	6	1041	c.914C>A	c.(913-915)aCc>aAc	p.T305N	SMC1A_ENST00000375340.6_Intron	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	305					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						TTTGTGGGAGGTGTTCTCCTT	0.498																																						uc004dsg.2																			0				ovary(5)|central_nervous_system(1)	6						c.(913-915)ACC>AAC		structural maintenance of chromosomes 1A							102.0	84.0	90.0					X																	53439144		2203	4300	6503	SO:0001583	missense	8243				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	g.chrX:53439144G>T	S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	11111	protein-coding gene	gene with protein product		300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.914C>A	X.37:g.53439144G>T	ENSP00000323421:p.Thr305Asn					SMC1A_uc011moe.1_Missense_Mutation_p.T283N|SMC1A_uc011mof.1_Intron	p.T305N	NM_006306	NP_006297	Q14683	SMC1A_HUMAN			6	983	-			305			Potential.		O14995|Q16351|Q2M228	Missense_Mutation	SNP	ENST00000322213.4	37	c.914C>A	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.475605	0.63737	.	.	ENSG00000072501	ENST00000322213	T	0.77750	-1.12	4.65	4.65	0.58169	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.85066	0.5612	M	0.64997	1.995	0.80722	D	1	D;P	0.67145	0.996;0.723	D;P	0.64237	0.923;0.541	D	0.86768	0.1971	10	0.62326	D	0.03	.	15.7658	0.78126	0.0:0.0:1.0:0.0	.	283;305	Q6MZR8;Q14683	.;SMC1A_HUMAN	N	305	ENSP00000323421:T305N	ENSP00000323421:T305N	T	-	2	0	SMC1A	53455869	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.734000	0.84928	2.053000	0.61076	0.600000	0.82982	ACC		0.498	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306	
TAF1	6872	broad.mit.edu	37	X	70627913	70627913	+	Silent	SNP	C	C	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chrX:70627913C>T	ENST00000373790.4	+	28	4344	c.4293C>T	c.(4291-4293)cgC>cgT	p.R1431R	TAF1_ENST00000449580.1_Silent_p.R1431R|TAF1_ENST00000276072.3_Silent_p.R1452R|TAF1_ENST00000423759.1_Silent_p.R1452R	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1431	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.|Interaction with ASF1A and ASF1B.|Protein kinase 2.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				AAACACTCCGCGAAAACGTGC	0.443																																						uc004dzu.3																			0				ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17						c.(4291-4293)CGC>CGT		TBP-associated factor 1 isoform 2							168.0	121.0	137.0					X																	70627913		2203	4300	6503	SO:0001819	synonymous_variant	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70627913C>T		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.4293C>T	X.37:g.70627913C>T						BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Silent_p.R1452R|TAF1_uc004dzv.3_Silent_p.R605R|TAF1_uc010nld.1_RNA|TAF1_uc010nle.1_RNA|TAF1_uc010nlf.1_5'UTR|TAF1_uc004dzx.2_RNA|TAF1_uc004dzy.2_RNA	p.R1431R	NM_138923	NP_620278	P21675	TAF1_HUMAN			28	4344	+	Renal(35;0.156)	all_lung(315;0.000321)	1431			Bromo 1.|Interaction with ASF1A and ASF1B.|Protein kinase 2.		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Silent	SNP	ENST00000373790.4	37	c.4293C>T	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	5.800	0.331827	0.10956	.	.	ENSG00000147133	ENST00000463163;ENST00000437147	.	.	.	4.16	-0.0393	0.13876	.	.	.	.	.	T	0.42063	0.1186	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23655	-1.0182	4	.	.	.	.	1.8995	0.03264	0.1517:0.0934:0.3024:0.4525	.	.	.	.	V	97;86	.	.	A	+	2	0	TAF1	70544638	1.000000	0.71417	0.999000	0.59377	0.639000	0.38242	1.542000	0.36137	0.016000	0.14998	-0.965000	0.02619	GCG		0.443	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606	
PGK1	5230	broad.mit.edu	37	X	77378404	77378404	+	Silent	SNP	T	T	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chrX:77378404T>A	ENST00000373316.4	+	7	881	c.714T>A	c.(712-714)ggT>ggA	p.G238G	PGK1_ENST00000537456.1_Silent_p.G210G|PGK1_ENST00000442431.1_Silent_p.G102G	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	238					carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24					Lamivudine(DB00709)	TTATTGGTGGTGGAATGGCTT	0.398																																						uc004ecz.3																			0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(712-714)GGT>GGA		phosphoglycerate kinase 1							160.0	128.0	139.0					X																	77378404		2203	4300	6503	SO:0001819	synonymous_variant	5230				gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chrX:77378404T>A	L00159	CCDS14438.1	Xq13.3	2011-03-17			ENSG00000102144	ENSG00000102144	2.7.2.3		8896	protein-coding gene	gene with protein product		311800				6188151, 6099325	Standard	NM_000291		Approved		uc004ecz.4	P00558	OTTHUMG00000021888	ENST00000373316.4:c.714T>A	X.37:g.77378404T>A						PGK1_uc010nlz.2_RNA|PGK1_uc011mqq.1_Silent_p.G210G	p.G238G	NM_000291	NP_000282	P00558	PGK1_HUMAN			7	886	+			238					A8K4W6|B7Z7A9|Q5J7W1|Q6IBT6|Q8NI87	Silent	SNP	ENST00000373316.4	37	c.714T>A	CCDS14438.1																																																																																				0.398	PGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057310.1		
RPA4	29935	broad.mit.edu	37	X	96139791	96139791	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chrX:96139791C>T	ENST00000373040.3	+	1	885	c.482C>T	c.(481-483)aCg>aTg	p.T161M	DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000373054.4_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	161					DNA damage checkpoint (GO:0000077)|DNA recombination (GO:0006310)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						ATTCTGGAAACGGTCAATGCA	0.458								Other identified genes with known or suspected DNA repair function																														uc004efv.3																			0					0						c.(481-483)ACG>ATG	Other_identified_genes_with_known_or_suspected_DNA_repair_function	replication protein A4, 34kDa							136.0	110.0	119.0					X																	96139791		2203	4300	6503	SO:0001583	missense	29935				DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding	g.chrX:96139791C>T	U24186	CCDS35345.1	Xq21	2010-04-09	2010-04-09		ENSG00000204086	ENSG00000204086			30305	protein-coding gene	gene with protein product		300767	"""replication protein A4, 34kDa"""			7760808	Standard	NM_013347		Approved	HSU24186	uc004efv.4	Q13156	OTTHUMG00000021987	ENST00000373040.3:c.482C>T	X.37:g.96139791C>T	ENSP00000362131:p.Thr161Met					DIAPH2_uc004eft.3_Intron|DIAPH2_uc004efu.3_Intron|DIAPH2_uc004efs.2_Intron	p.T161M	NM_013347	NP_037479	Q13156	RFA4_HUMAN			1	780	+			161					Q3SY03	Missense_Mutation	SNP	ENST00000373040.3	37	c.482C>T	CCDS35345.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.224341	0.39300	.	.	ENSG00000204086	ENST00000373040	T	0.44083	0.93	3.81	-3.86	0.04230	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.28267	0.0698	L	0.38175	1.15	0.09310	N	1	B	0.31209	0.313	B	0.16722	0.016	T	0.05903	-1.0857	9	0.72032	D	0.01	-10.4585	11.4156	0.49949	0.0:0.1957:0.0:0.8043	.	161	Q13156	RFA4_HUMAN	M	161	ENSP00000362131:T161M	ENSP00000362131:T161M	T	+	2	0	RPA4	96026447	0.000000	0.05858	0.000000	0.03702	0.160000	0.22226	-1.187000	0.03067	-1.225000	0.02578	0.600000	0.82982	ACG		0.458	RPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057464.1	NM_013347	
PCDH19	57526	broad.mit.edu	37	X	99662858	99662858	+	Silent	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chrX:99662858G>A	ENST00000373034.4	-	1	2413	c.738C>T	c.(736-738)agC>agT	p.S246S	PCDH19_ENST00000255531.7_Silent_p.S246S|PCDH19_ENST00000420881.2_Silent_p.S246S	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	246	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TTTCTGGCACGCTCACCGCGT	0.617																																						uc010nmz.2																			0				ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						c.(736-738)AGC>AGT		protocadherin 19 isoform b							135.0	138.0	137.0					X																	99662858		2181	4268	6449	SO:0001819	synonymous_variant	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99662858G>A	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.738C>T	X.37:g.99662858G>A						PCDH19_uc004efw.3_Silent_p.S246S|PCDH19_uc004efx.3_Silent_p.S246S	p.S246S	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN			1	2414	-			246			Cadherin 3.|Extracellular (Potential).		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Silent	SNP	ENST00000373034.4	37	c.738C>T	CCDS55462.1																																																																																				0.617	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766	
MID2	11043	broad.mit.edu	37	X	107084402	107084402	+	Silent	SNP	G	G	A	rs376601333		TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chrX:107084402G>A	ENST00000262843.6	+	2	1055	c.507G>A	c.(505-507)acG>acA	p.T169T	MID2_ENST00000443968.2_Silent_p.T169T	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	169					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						TGCGGGCCACGCACCCCAACA	0.552																																						uc004enl.2																			0				ovary(1)	1						c.(505-507)ACG>ACA		midline 2 isoform 1							57.0	49.0	52.0					X																	107084402		2203	4300	6503	SO:0001819	synonymous_variant	11043					centrosome|microtubule	ligase activity|zinc ion binding	g.chrX:107084402G>A		CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.507G>A	X.37:g.107084402G>A						MID2_uc004enk.2_Silent_p.T169T	p.T169T	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN			2	1080	+			169			B box-type 1; degenerate.		A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Silent	SNP	ENST00000262843.6	37	c.507G>A	CCDS14532.2																																																																																				0.552	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2	NM_012216	
MAGEA6	4105	broad.mit.edu	37	X	151869622	151869622	+	Missense_Mutation	SNP	G	G	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chrX:151869622G>T	ENST00000329342.5	+	3	537	c.312G>T	c.(310-312)gaG>gaT	p.E104D		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	104										breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TGGAGTCTGAGTTCCAAGCAG	0.547																																						uc004ffq.1																			0					0						c.(310-312)GAG>GAT		melanoma antigen family A, 6							137.0	122.0	127.0					X																	151869622		2202	4300	6502	SO:0001583	missense	4105						protein binding	g.chrX:151869622G>T		CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"""MAGE-6 antigen"", ""melanoma-associated antigen 6"", ""melanoma antigen family A 6"", ""cancer/testis antigen family 1, member 6"""	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.312G>T	X.37:g.151869622G>T	ENSP00000329199:p.Glu104Asp					MAGEA6_uc004ffr.1_Missense_Mutation_p.E104D|MAGEA2_uc010nto.2_Intron	p.E104D	NM_005363	NP_005354	P43360	MAGA6_HUMAN			3	506	+	Acute lymphoblastic leukemia(192;6.56e-05)		104					A8IF93|Q6NW44	Missense_Mutation	SNP	ENST00000329342.5	37	c.312G>T	CCDS14708.1	.	.	.	.	.	.	.	.	.	.	c	0	-2.665627	0.00105	.	.	ENSG00000197172	ENST00000329342;ENST00000412733;ENST00000457643	T;T;T	0.02177	4.7;4.41;4.48	0.605	-1.21	0.09524	.	3.014390	0.00991	N	0.003531	T	0.02119	0.0066	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48364	-0.9042	9	0.42905	T	0.14	.	.	.	.	.	104	P43360	MAGA6_HUMAN	D	104	ENSP00000329199:E104D;ENSP00000403303:E104D;ENSP00000401806:E104D	ENSP00000329199:E104D	E	+	3	2	MAGEA6	151620278	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.951000	0.00327	-2.372000	0.00601	-1.143000	0.01870	GAG		0.547	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363	
DKC1	1736	broad.mit.edu	37	X	154004585	154004585	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chrX:154004585G>A	ENST00000369550.5	+	14	1672	c.1462G>A	c.(1462-1464)Gag>Aag	p.E488K	SNORA56_ENST00000383966.1_RNA	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	488	Nuclear and nucleolar localization.				cell proliferation (GO:0008283)|pseudouridine synthesis (GO:0001522)|RNA processing (GO:0006396)|rRNA processing (GO:0006364)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)|telomerase activity (GO:0003720)			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GAGCGGGGCCGAGCCTGGAGA	0.532									Congenital Dyskeratosis																													uc004fmm.2																			0					0						c.(1462-1464)GAG>AAG		dyskerin isoform 1							53.0	45.0	47.0					X																	154004585		2201	4296	6497	SO:0001583	missense	1736	Congenital_Dyskeratosis	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity	g.chrX:154004585G>A	AJ224481	CCDS14761.1, CCDS76062.1	Xq28	2014-09-17			ENSG00000130826	ENSG00000130826			2890	protein-coding gene	gene with protein product		300126		DKC		9590285, 9888995	Standard	NM_001142463		Approved	XAP101, dyskerin, NAP57, NOLA4	uc004fmm.3	O60832	OTTHUMG00000024242	ENST00000369550.5:c.1462G>A	X.37:g.154004585G>A	ENSP00000358563:p.Glu488Lys					DKC1_uc010nvf.2_Missense_Mutation_p.E483K	p.E488K	NM_001363	NP_001354	O60832	DKC1_HUMAN			14	1672	+	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		488			Nuclear and nucleolar localization.		F5BSB3|O43845|Q96G67|Q9Y505	Missense_Mutation	SNP	ENST00000369550.5	37	c.1462G>A	CCDS14761.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.024702	0.35701	.	.	ENSG00000130826	ENST00000369550	D	0.97430	-4.38	4.76	3.89	0.44902	.	11.960700	0.00397	N	0.000044	D	0.93792	0.8015	N	0.19112	0.55	0.19775	N	0.999954	B;B	0.24533	0.105;0.105	B;B	0.12156	0.005;0.007	D	0.85111	0.0963	10	0.38643	T	0.18	-24.7084	9.9674	0.41732	0.1019:0.0:0.8981:0.0	.	488;488	A8MUT5;O60832	.;DKC1_HUMAN	K	488	ENSP00000358563:E488K	ENSP00000358563:E488K	E	+	1	0	DKC1	153657779	0.626000	0.27120	0.021000	0.16686	0.024000	0.10985	2.584000	0.46102	1.082000	0.41137	0.600000	0.82982	GAG		0.532	DKC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061180.5	NM_001363	
