#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
DOCK7	85440	broad.mit.edu	37	1	62943474	62943474	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr1:62943474C>A	ENST00000340370.5	-	43	5455	c.5438G>T	c.(5437-5439)cGt>cTt	p.R1813L	DOCK7_ENST00000489185.1_5'UTR|DOCK7_ENST00000251157.5_Missense_Mutation_p.R1833L	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1844	DHR-2.				activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						AAAACCAACACGAAAATAGGT	0.363																																						uc001daq.2		NA																	0				ovary(2)	2						c.(5497-5499)CGT>CTT		dedicator of cytokinesis 7							113.0	112.0	112.0					1																	62943474		2203	4300	6503	SO:0001583	missense	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:62943474C>A		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.5438G>T	1.37:g.62943474C>A	ENSP00000340742:p.Arg1813Leu					DOCK7_uc001dan.2_Missense_Mutation_p.R1696L|DOCK7_uc001dao.2_Missense_Mutation_p.R1694L|DOCK7_uc001dap.2_Missense_Mutation_p.R1813L|DOCK7_uc001dam.2_Missense_Mutation_p.R1015L|DOCK7_uc010oov.1_Missense_Mutation_p.R574L|DOCK7_uc001dar.1_Missense_Mutation_p.R7L	p.R1833L	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN			43	5532	-			1844			DHR-2.		Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	c.5498G>T	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	C	33	5.233796	0.95207	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000395441	T;T	0.26373	1.75;1.74	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.66416	0.2787	H	0.96489	3.83	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;0.999;0.999;1.0;1.0	T	0.78826	-0.2051	10	0.87932	D	0	.	18.8868	0.92381	0.0:1.0:0.0:0.0	.	1844;1833;1813;1802;1804;1835	Q96N67;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6	DOCK7_HUMAN;.;.;.;.;.	L	1844;1833;1813;574	ENSP00000251157:R1833L;ENSP00000340742:R1813L	ENSP00000251157:R1833L	R	-	2	0	DOCK7	62716062	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.531000	0.85337	0.585000	0.79938	CGT		0.363	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		30	44	1	0	1.71e-08	2.13e-08	30	44				
LPAR3	23566	broad.mit.edu	37	1	85331581	85331581	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr1:85331581C>T	ENST00000440886.1	-	1	261	c.223G>A	c.(223-225)Gcc>Acc	p.A75T	LPAR3_ENST00000370611.3_Missense_Mutation_p.A75T|LPAR3_ENST00000491034.1_5'UTR			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	75					activation of MAPK activity (GO:0000187)|bleb assembly (GO:0032060)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|synaptic transmission (GO:0007268)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						AAGAAATCGGCAGCAGCTAAA	0.423																																						uc001dkl.2		NA																	0				lung(3)|ovary(2)	5						c.(223-225)GCC>ACC		lysophosphatidic acid receptor 3							92.0	98.0	96.0					1																	85331581		2203	4300	6503	SO:0001583	missense	23566				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle		g.chr1:85331581C>T	AF127138	CCDS700.1	1p22.3	2012-08-08	2008-04-11	2008-04-11	ENSG00000171517	ENSG00000171517		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	14298	protein-coding gene	gene with protein product		605106	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7"""	EDG7		10488122	Standard	NM_012152		Approved	LP-A3, Edg-7, RP4-678I3, HOFNH30, LPA3	uc009wcj.1	Q9UBY5	OTTHUMG00000009925	ENST00000440886.1:c.223G>A	1.37:g.85331581C>T	ENSP00000395389:p.Ala75Thr					LPAR3_uc009wcj.1_Missense_Mutation_p.A75T	p.A75T	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN			1	262	-			75			Helical; Name=2; (Potential).		A0AVA3	Missense_Mutation	SNP	ENST00000440886.1	37	c.223G>A	CCDS700.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.607430	0.87157	.	.	ENSG00000171517	ENST00000440886;ENST00000370611	T;T	0.78003	-1.14;-1.14	5.95	5.95	0.96441	GPCR, rhodopsin-like superfamily (1);	0.050349	0.85682	D	0.000000	D	0.82375	0.5023	M	0.70275	2.135	0.51012	D	0.999908	P	0.52842	0.956	P	0.53006	0.715	D	0.83650	0.0155	10	0.87932	D	0	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	75	Q9UBY5	LPAR3_HUMAN	T	75	ENSP00000395389:A75T;ENSP00000359643:A75T	ENSP00000359643:A75T	A	-	1	0	LPAR3	85104169	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.801000	0.55545	2.824000	0.97209	0.655000	0.94253	GCC		0.423	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027467.1	NM_012152		22	108	0	0	0	0	22	108				
BARHL2	343472	broad.mit.edu	37	1	91180103	91180103	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr1:91180103C>T	ENST00000370445.4	-	2	877	c.836G>A	c.(835-837)tGg>tAg	p.W279*		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	279					cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	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)			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		GTTCTGGTACCAGGTCTTGAC	0.547																																					GBM(199;3561 4100 22440)	uc001dns.2		NA																	0				ovary(1)	1						c.(835-837)TGG>TAG		BarH-like homeobox 2							115.0	108.0	110.0					1																	91180103		2203	4300	6503	SO:0001587	stop_gained	343472					nucleus	sequence-specific DNA binding	g.chr1:91180103C>T	AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032		"""Homeoboxes / ANTP class : NKL subclass"""	954	protein-coding gene	gene with protein product		605212	"""BarH (Drosophila)-like 2"""				Standard	NM_020063		Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.836G>A	1.37:g.91180103C>T	ENSP00000359474:p.Trp279*						p.W279*	NM_020063	NP_064447	Q9NY43	BARH2_HUMAN		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)	2	878	-		all_lung(203;0.0263)|Lung SC(238;0.128)	279			Homeobox.		A0AVP2|Q7Z4N7	Nonsense_Mutation	SNP	ENST00000370445.4	37	c.836G>A	CCDS730.1	.	.	.	.	.	.	.	.	.	.	C	38	6.682849	0.97759	.	.	ENSG00000143032	ENST00000370445	.	.	.	5.67	5.67	0.87782	.	0.120558	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.3479	0.90328	0.0:1.0:0.0:0.0	.	.	.	.	X	279	.	ENSP00000359474:W279X	W	-	2	0	BARHL2	90952691	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.659000	0.90383	0.655000	0.94253	TGG		0.547	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027728.2			43	52	0	0	0	0	43	52				
KIRREL	55243	broad.mit.edu	37	1	158047873	158047873	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr1:158047873G>T	ENST00000359209.6	+	3	362	c.295G>T	c.(295-297)Gag>Tag	p.E99*	KIRREL_ENST00000392272.2_Nonsense_Mutation_p.E99*|KIRREL_ENST00000416935.2_Intron|KIRREL_ENST00000360089.4_Nonsense_Mutation_p.E38*|KIRREL_ENST00000368173.3_Nonsense_Mutation_p.E99*			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	99	Ig-like C2-type 1.				excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CGCCTCTTACGAGTGCCAGGC	0.627																																						uc001frn.3		NA																	0				ovary(1)	1						c.(295-297)GAG>TAG		kin of IRRE like precursor							113.0	104.0	107.0					1																	158047873		2203	4300	6503	SO:0001587	stop_gained	55243					integral to membrane		g.chr1:158047873G>T	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.295G>T	1.37:g.158047873G>T	ENSP00000352138:p.Glu99*					KIRREL_uc010pib.1_Intron|KIRREL_uc009wsq.2_Nonsense_Mutation_p.E38*	p.E99*	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN			3	699	+	all_hematologic(112;0.0378)		99			Extracellular (Potential).|Ig-like C2-type 1.		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Nonsense_Mutation	SNP	ENST00000359209.6	37	c.295G>T	CCDS1172.2	.	.	.	.	.	.	.	.	.	.	G	42	9.597823	0.99216	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209	.	.	.	4.41	4.41	0.53225	.	0.000000	0.35870	N	0.002926	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-29.2972	14.9095	0.70746	0.0:0.0:1.0:0.0	.	.	.	.	X	38;99;99;99	.	ENSP00000352138:E99X	E	+	1	0	KIRREL	156314497	1.000000	0.71417	0.982000	0.44146	0.972000	0.66771	9.461000	0.97646	2.449000	0.82847	0.563000	0.77884	GAG		0.627	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240		35	87	1	0	1.6e-16	2.14e-16	35	87				
CRP	1401	broad.mit.edu	37	1	159683905	159683905	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr1:159683905A>G	ENST00000255030.5	-	2	188	c.85T>C	c.(85-87)Ttt>Ctt	p.F29L	CRP_ENST00000368110.1_Missense_Mutation_p.F29L|CRP_ENST00000473196.1_5'Flank|CRP_ENST00000368111.1_Missense_Mutation_p.F29L|CRP_ENST00000343919.2_Missense_Mutation_p.F29L|CRP_ENST00000368112.1_Missense_Mutation_p.F29L|CRP_ENST00000437342.1_Intron	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	29	Pentaxin.				acute-phase response (GO:0006953)|aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|complement activation, classical pathway (GO:0006958)|defense response to Gram-positive bacterium (GO:0050830)|inflammatory response (GO:0006954)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|opsonization (GO:0008228)|positive regulation of dendrite development (GO:1900006)|protein polymerization (GO:0051258)|regulation of interleukin-8 secretion (GO:2000482)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lead ion (GO:0010288)|wound healing (GO:0042060)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|growth cone (GO:0030426)	calcium ion binding (GO:0005509)|cholesterol binding (GO:0015485)|choline binding (GO:0033265)|complement component C1q binding (GO:0001849)|low-density lipoprotein particle binding (GO:0030169)			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				inhaled insulin(DB05278)	TCTTTGGGAAACACAAAAGCC	0.458																																						uc001ftw.2		NA																	0				ovary(1)	1						c.(85-87)TTT>CTT		C-reactive protein, pentraxin-related precursor	Atorvastatin(DB01076)|Bezafibrate(DB01393)						81.0	86.0	84.0					1																	159683905		2202	4297	6499	SO:0001583	missense	1401				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding	g.chr1:159683905A>G	M11725	CCDS30911.1	1q23.2	2013-05-13			ENSG00000132693	ENSG00000132693			2367	protein-coding gene	gene with protein product	"""pentraxin 1"""	123260				3840479, 6857266	Standard	NM_000567		Approved	PTX1	uc001ftw.3	P02741	OTTHUMG00000035344	ENST00000255030.5:c.85T>C	1.37:g.159683905A>G	ENSP00000255030:p.Phe29Leu					CRP_uc001ftx.1_Missense_Mutation_p.F29L|CRP_uc001fty.1_5'Flank	p.F29L	NM_000567	NP_000558	P02741	CRP_HUMAN			2	189	-	all_hematologic(112;0.0429)		29			Pentaxin.		A8K078|D3DVD9|D3DVE0|Q08AK3|Q8WW75	Missense_Mutation	SNP	ENST00000255030.5	37	c.85T>C	CCDS30911.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.737287	0.89482	.	.	ENSG00000132693	ENST00000255030;ENST00000368112;ENST00000368111;ENST00000368110;ENST00000343919	T;T;T;T;T	0.75050	-0.86;-0.9;-0.9;-0.9;-0.9	5.13	5.13	0.70059	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.86343	0.5910	M	0.92169	3.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.88905	0.3355	10	0.54805	T	0.06	-20.8345	12.9095	0.58173	1.0:0.0:0.0:0.0	.	29;29	P02741-2;P02741	.;CRP_HUMAN	L	29	ENSP00000255030:F29L;ENSP00000357093:F29L;ENSP00000357092:F29L;ENSP00000357091:F29L;ENSP00000340882:F29L	ENSP00000255030:F29L	F	-	1	0	CRP	157950529	1.000000	0.71417	0.956000	0.39512	0.852000	0.48524	8.279000	0.89901	1.910000	0.55303	0.533000	0.62120	TTT		0.458	CRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085553.1	NM_000567		11	78	0	0	0	0	11	78				
PRRC2C	23215	broad.mit.edu	37	1	171505303	171505303	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr1:171505303C>T	ENST00000338920.4	+	14	2410	c.2173C>T	c.(2173-2175)Cct>Tct	p.P725S	PRRC2C_ENST00000392078.3_Missense_Mutation_p.P727S|PRRC2C_ENST00000426496.2_Missense_Mutation_p.P725S|PRRC2C_ENST00000367742.3_Missense_Mutation_p.P727S	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	725	Pro-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										GCAGCCTCATCCTCAGCATTT	0.493																																						uc010pmg.1		NA																	0					0						c.(2173-2175)CCT>TCT		HBxAg transactivated protein 2							155.0	110.0	126.0					1																	171505303		2203	4300	6503	SO:0001583	missense	23215						protein C-terminus binding	g.chr1:171505303C>T	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.2173C>T	1.37:g.171505303C>T	ENSP00000343629:p.Pro725Ser						p.P725S	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN			14	2439	+			725			Pro-rich.		Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	c.2173C>T	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	C	16.42	3.117340	0.56505	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080;ENST00000483654	T;T;T;T	0.17370	2.28;2.28;2.28;2.28	5.81	5.81	0.92471	.	0.000000	0.45361	D	0.000374	T	0.35508	0.0934	M	0.73217	2.22	0.51233	D	0.99991	D	0.89917	1.0	D	0.66351	0.943	T	0.07121	-1.0789	10	0.72032	D	0.01	.	20.0784	0.97758	0.0:1.0:0.0:0.0	.	725	Q9Y520-4	.	S	727;726;725;727;725;482;484	ENSP00000375928:P727S;ENSP00000410219:P725S;ENSP00000356716:P727S;ENSP00000343629:P725S	ENSP00000343629:P725S	P	+	1	0	PRRC2C	169771927	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.190000	0.77755	2.736000	0.93811	0.655000	0.94253	CCT		0.493	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		6	15	0	0	0	0	6	15				
PAPPA2	60676	broad.mit.edu	37	1	176563768	176563768	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr1:176563768G>T	ENST00000367662.3	+	3	2192	c.1028G>T	c.(1027-1029)tGc>tTc	p.C343F	PAPPA2_ENST00000367661.3_Missense_Mutation_p.C343F	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	343					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTCTCCCTCTGCACCGACCGC	0.577																																						uc001gkz.2		NA																	0				ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(1027-1029)TGC>TTC		pappalysin 2 isoform 1							58.0	60.0	59.0					1																	176563768		2086	4224	6310	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176563768G>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1028G>T	1.37:g.176563768G>T	ENSP00000356634:p.Cys343Phe					PAPPA2_uc001gky.1_Missense_Mutation_p.C343F|PAPPA2_uc009www.2_RNA	p.C343F	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			3	2192	+			343					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.1028G>T	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.843152	0.51057	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.73258	-0.73;-0.73	5.45	5.45	0.79879	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.107647	0.64402	D	0.000004	T	0.54854	0.1884	N	0.08118	0	0.43971	D	0.996656	B;B	0.15473	0.002;0.013	B;B	0.04013	0.001;0.001	T	0.51188	-0.8737	10	0.48119	T	0.1	-15.8365	18.8948	0.92419	0.0:0.0:1.0:0.0	.	343;343	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	F	343	ENSP00000356634:C343F;ENSP00000356633:C343F	ENSP00000356633:C343F	C	+	2	0	PAPPA2	174830391	1.000000	0.71417	0.990000	0.47175	0.708000	0.40852	5.595000	0.67563	2.555000	0.86185	0.650000	0.86243	TGC		0.577	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			14	55	1	0	6.32e-08	7.72e-08	14	55				
BRINP2	57795	broad.mit.edu	37	1	177245369	177245369	+	Missense_Mutation	SNP	C	C	G	rs145109858	byFrequency	TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr1:177245369C>G	ENST00000361539.4	+	6	1123	c.811C>G	c.(811-813)Cgc>Ggc	p.R271G	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	271	MACPF.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											TCTGCGTGAGCGCTTTGTAGC	0.562																																						uc001glf.2		NA																	0				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(811-813)CGC>GGC		family with sequence similarity 5, member B							68.0	61.0	64.0					1																	177245369		2203	4300	6503	SO:0001583	missense	57795					extracellular region		g.chr1:177245369C>G		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.811C>G	1.37:g.177245369C>G	ENSP00000354481:p.Arg271Gly					FAM5B_uc010pna.1_Missense_Mutation_p.R21G|FAM5B_uc001glg.2_Missense_Mutation_p.R166G	p.R271G	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN			6	1123	+			271					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	c.811C>G	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.492442	0.64074	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.15487	2.42	6.07	6.07	0.98685	Membrane attack complex component/perforin (MACPF) domain (1);	0.000000	0.85682	D	0.000000	T	0.17831	0.0428	L	0.45228	1.405	0.54753	D	0.999983	B;B;B	0.25563	0.129;0.018;0.001	B;B;B	0.24541	0.054;0.024;0.003	T	0.01326	-1.1384	10	0.46703	T	0.11	-25.4339	15.0142	0.71570	0.1424:0.8576:0.0:0.0	.	21;166;271	F5H8E0;Q9C0B6-2;Q9C0B6	.;.;FAM5B_HUMAN	G	21;271	ENSP00000354481:R271G	ENSP00000354481:R271G	R	+	1	0	FAM5B	175511992	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	0.813000	0.27225	2.884000	0.98904	0.655000	0.94253	CGC		0.562	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		9	61	0	0	0	0	9	61				
AXDND1	126859	broad.mit.edu	37	1	179363133	179363133	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr1:179363133T>A	ENST00000367618.3	+	10	1346	c.959T>A	c.(958-960)tTa>tAa	p.L320*	AXDND1_ENST00000457238.2_Nonsense_Mutation_p.L320*|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	320										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						CAGCGCATTTTAGAAGAATTG	0.373																																						uc001gmo.2		NA																	0					0						c.(958-960)TTA>TAA		hypothetical protein LOC126859 isoform 1							141.0	140.0	140.0					1																	179363133		2203	4300	6503	SO:0001587	stop_gained	126859							g.chr1:179363133T>A	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.959T>A	1.37:g.179363133T>A	ENSP00000356590:p.Leu320*					C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmn.1_Nonsense_Mutation_p.L108*|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Nonsense_Mutation_p.L320*	p.L320*	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN			10	1086	+			320			Potential.		Q6AWB2|Q96LJ3|Q96M01	Nonsense_Mutation	SNP	ENST00000367618.3	37	c.959T>A	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	T	36	5.804281	0.96967	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000457238;ENST00000434088	.	.	.	5.33	5.33	0.75918	.	0.492439	0.20464	N	0.091835	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	-13.3977	7.9347	0.29923	0.0:0.0909:0.0:0.9091	.	.	.	.	X	320;278;320;254	.	ENSP00000353471:L278X	L	+	2	0	AXDND1	177629756	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.782000	0.47758	2.019000	0.59389	0.523000	0.50628	TTA		0.373	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		22	52	0	0	0	0	22	52				
CFHR2	3080	broad.mit.edu	37	1	196883745	196883745	+	Intron	SNP	C	C	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr1:196883745C>G	ENST00000367421.3	+	2	135				CFHR4_ENST00000367416.2_Missense_Mutation_p.T433S|CFHR4_ENST00000367418.2_Missense_Mutation_p.T187S|CFHR4_ENST00000251424.4_Missense_Mutation_p.T187S|CFHR4_ENST00000608469.1_Intron			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						TATGGAAACACCACAGGTTCC	0.363																																						uc001gto.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(559-561)ACC>AGC		complement factor H-related 4 precursor							97.0	90.0	92.0					1																	196883745		1918	4159	6077	SO:0001627	intron_variant	10877					extracellular region	lipid transporter activity	g.chr1:196883745C>G	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-34840C>G	1.37:g.196883745C>G						CFHR4_uc009wyy.2_Missense_Mutation_p.T433S|CFHR4_uc001gtp.2_Missense_Mutation_p.T434S	p.T187S	NM_006684	NP_006675	Q92496	FHR4_HUMAN			4	629	+			187			Sushi 3.		Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367421.3	37	c.560C>G		.	.	.	.	.	.	.	.	.	.	C	7.407	0.633954	0.14322	.	.	ENSG00000134365	ENST00000367416;ENST00000367418;ENST00000251424;ENST00000538553	T;T;T	0.73363	-0.74;1.03;-0.74	3.31	2.36	0.29203	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.75496	0.3857	L	0.38175	1.15	0.09310	N	1	B;D;P	0.63046	0.439;0.992;0.924	B;D;P	0.69142	0.157;0.962;0.722	T	0.62196	-0.6905	9	0.21540	T	0.41	.	8.4	0.32581	0.0:0.757:0.243:0.0	.	433;434;187	C9J7J7;Q5DVJ7;Q92496	.;.;FHR4_HUMAN	S	433;187;187;187	ENSP00000356386:T433S;ENSP00000356388:T187S;ENSP00000251424:T187S	ENSP00000251424:T187S	T	+	2	0	CFHR4	195150368	0.000000	0.05858	0.017000	0.16124	0.392000	0.30506	0.113000	0.15499	0.698000	0.31739	0.406000	0.27484	ACC		0.363	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005666		7	43	0	0	0	0	7	43				
ZNF281	23528	broad.mit.edu	37	1	200378334	200378334	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr1:200378334T>A	ENST00000294740.3	-	2	624	c.500A>T	c.(499-501)gAa>gTa	p.E167V	ZNF281_ENST00000367353.1_Missense_Mutation_p.E167V|ZNF281_ENST00000367352.3_Missense_Mutation_p.E131V	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	167					embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						ACTCCCCCCTTCACCGCCTCC	0.607																																						uc001gve.2		NA																	0				ovary(1)|breast(1)	2						c.(499-501)GAA>GTA		zinc finger protein 281							55.0	51.0	53.0					1																	200378334		2203	4300	6503	SO:0001583	missense	23528				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200378334T>A	AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"""Zinc fingers, C2H2-type"""	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.500A>T	1.37:g.200378334T>A	ENSP00000294740:p.Glu167Val					uc010ppi.1_5'Flank|ZNF281_uc001gvf.1_Missense_Mutation_p.E167V|ZNF281_uc001gvg.1_Missense_Mutation_p.E131V	p.E167V	NM_012482	NP_036614	Q9Y2X9	ZN281_HUMAN			2	607	-			167					A6NF48|B3KMX2|Q5RKW5|Q9NY92	Missense_Mutation	SNP	ENST00000294740.3	37	c.500A>T	CCDS1402.1	.	.	.	.	.	.	.	.	.	.	T	10.60	1.394971	0.25205	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352	T;T;T	0.81415	3.14;3.14;-1.49	5.64	5.64	0.86602	.	0.473265	0.21349	N	0.075989	T	0.64897	0.2640	N	0.14661	0.345	0.35735	D	0.818223	B;B	0.14438	0.01;0.01	B;B	0.15870	0.014;0.014	T	0.66799	-0.5832	10	0.59425	D	0.04	-15.6407	7.0889	0.25273	0.0:0.0742:0.1491:0.7768	.	131;167	A6NF48;Q9Y2X9	.;ZN281_HUMAN	V	167;167;131	ENSP00000294740:E167V;ENSP00000356322:E167V;ENSP00000356321:E131V	ENSP00000294740:E167V	E	-	2	0	ZNF281	198644957	0.962000	0.33011	0.998000	0.56505	0.987000	0.75469	2.010000	0.40913	2.136000	0.66102	0.533000	0.62120	GAA		0.607	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086879.2	NM_012482		10	67	0	0	0	0	10	67				
KLHL12	59349	broad.mit.edu	37	1	202887471	202887471	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr1:202887471G>A	ENST00000367261.3	-	4	613	c.395C>T	c.(394-396)cCt>cTt	p.P132L	KLHL12_ENST00000435533.3_Missense_Mutation_p.P170L	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	132					COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|protein monoubiquitination (GO:0006513)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|ER to Golgi transport vesicle (GO:0030134)|Golgi membrane (GO:0000139)				NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			GCAATTAGAAGGGTCCAACTG	0.448																																						uc001gyo.1		NA																	0					0						c.(394-396)CCT>CTT		kelch-like 12							95.0	89.0	91.0					1																	202887471		2203	4298	6501	SO:0001583	missense	59349				Wnt receptor signaling pathway		protein binding	g.chr1:202887471G>A	AF190900	CCDS1429.1	1q32.1	2013-01-30	2013-01-30		ENSG00000117153	ENSG00000117153		"""Kelch-like"", ""BTB/POZ domain containing"""	19360	protein-coding gene	gene with protein product		614522	"""kelch-like 12 (Drosophila)"""			12477932	Standard	NM_021633		Approved	C3IP1	uc001gyo.1	Q53G59	OTTHUMG00000041385	ENST00000367261.3:c.395C>T	1.37:g.202887471G>A	ENSP00000356230:p.Pro132Leu					KLHL12_uc001gyn.1_5'UTR|KLHL12_uc010pqc.1_Missense_Mutation_p.P170L|KLHL12_uc009xah.1_Missense_Mutation_p.P132L	p.P132L	NM_021633	NP_067646	Q53G59	KLH12_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		4	595	-			132					A6NEN8|B7Z7B8|Q9HBX5	Missense_Mutation	SNP	ENST00000367261.3	37	c.395C>T	CCDS1429.1	.	.	.	.	.	.	.	.	.	.	G	33	5.256509	0.95336	.	.	ENSG00000117153	ENST00000367261;ENST00000435533;ENST00000367258	T;T;T	0.68025	-0.3;-0.3;-0.24	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.81786	0.4896	M	0.66297	2.02	0.80722	D	1	D;D;D	0.71674	0.996;0.998;0.998	P;D;D	0.76071	0.885;0.981;0.987	T	0.81936	-0.0705	10	0.72032	D	0.01	.	20.2786	0.98501	0.0:0.0:1.0:0.0	.	170;170;132	B7Z7B8;A6NEN8;Q53G59	.;.;KLH12_HUMAN	L	132;170;170	ENSP00000356230:P132L;ENSP00000416886:P170L;ENSP00000356227:P170L	ENSP00000356227:P170L	P	-	2	0	KLHL12	201154094	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.868000	0.98415	0.557000	0.71058	CCT		0.448	KLHL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099151.1	NM_021633		12	57	0	0	0	0	12	57				
EDARADD	128178	broad.mit.edu	37	1	236590709	236590709	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr1:236590709A>G	ENST00000334232.4	+	4	345	c.178A>G	c.(178-180)Att>Gtt	p.I60V	EDARADD_ENST00000359362.5_Missense_Mutation_p.I50V	NM_145861.2	NP_665860.2	Q8WWZ3	EDAD_HUMAN	EDAR-associated death domain	60					cell differentiation (GO:0030154)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)|trachea gland development (GO:0061153)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ATGTGATACAATTACTTTGAA	0.299																																						uc001hxu.1		NA																	0					0						c.(178-180)ATT>GTT		EDAR-associated death domain isoform A							33.0	35.0	34.0					1																	236590709		2201	4293	6494	SO:0001583	missense	128178				cell differentiation|signal transduction	cytoplasm		g.chr1:236590709A>G	AY028914	CCDS1610.1, CCDS31065.1	1q42.3	2013-05-22			ENSG00000186197	ENSG00000186197			14341	protein-coding gene	gene with protein product		606603				11780064	Standard	NM_145861		Approved		uc001hxu.1	Q8WWZ3	OTTHUMG00000039954	ENST00000334232.4:c.178A>G	1.37:g.236590709A>G	ENSP00000335076:p.Ile60Val					EDARADD_uc001hxv.1_Missense_Mutation_p.I50V	p.I60V	NM_145861	NP_665860	Q8WWZ3	EDAD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		4	243	+	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	60					A2VCK5|A8K7B5|B1AL54|B9ZVW5|Q5VYJ7	Missense_Mutation	SNP	ENST00000334232.4	37	c.178A>G	CCDS1610.1	.	.	.	.	.	.	.	.	.	.	A	0.008	-1.905168	0.00512	.	.	ENSG00000186197	ENST00000439430;ENST00000334232;ENST00000359362	T;T;T	0.75704	1.22;-0.4;-0.96	4.08	-7.78	0.01223	.	0.775369	0.10615	N	0.654053	T	0.52613	0.1745	L	0.41824	1.3	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.51888	-0.8648	10	0.02654	T	1	.	8.8104	0.34963	0.65:0.1216:0.2284:0.0	.	50;60	A8K7B5;Q8WWZ3	.;EDAD_HUMAN	V	38;60;50	ENSP00000405815:I38V;ENSP00000335076:I60V;ENSP00000352320:I50V	ENSP00000335076:I60V	I	+	1	0	EDARADD	234657332	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.537000	0.06128	-1.747000	0.01333	-0.912000	0.02778	ATT		0.299	EDARADD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000096368.1	NM_145861		3	8	0	0	0	0	3	8				
CHRM3	1131	broad.mit.edu	37	1	240071629	240071629	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr1:240071629A>G	ENST00000255380.4	+	5	1657	c.878A>G	c.(877-879)tAc>tGc	p.Y293C		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	293					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TGCAGCAGTTACGAACTTCAA	0.547																																						uc001hyp.2		NA																	0				ovary(4)|skin(1)	5						c.(877-879)TAC>TGC		cholinergic receptor, muscarinic 3	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)						42.0	46.0	45.0					1																	240071629		2203	4300	6503	SO:0001583	missense	1131				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr1:240071629A>G	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.878A>G	1.37:g.240071629A>G	ENSP00000255380:p.Tyr293Cys						p.Y293C	NM_000740	NP_000731	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	1657	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	293			Cytoplasmic (By similarity).		Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	ENST00000255380.4	37	c.878A>G	CCDS1616.1	.	.	.	.	.	.	.	.	.	.	A	9.889	1.203761	0.22121	.	.	ENSG00000133019	ENST00000255380	T	0.59502	0.26	5.88	5.88	0.94601	GPCR, rhodopsin-like superfamily (1);	0.222187	0.39020	N	0.001499	T	0.53690	0.1812	L	0.48642	1.525	0.58432	D	0.999997	B	0.15141	0.012	B	0.20184	0.028	T	0.47971	-0.9075	10	0.38643	T	0.18	-12.3792	16.2762	0.82644	1.0:0.0:0.0:0.0	.	293	P20309	ACM3_HUMAN	C	293	ENSP00000255380:Y293C	ENSP00000255380:Y293C	Y	+	2	0	CHRM3	238138252	1.000000	0.71417	0.981000	0.43875	0.815000	0.46073	7.211000	0.77933	2.243000	0.73865	0.482000	0.46254	TAC		0.547	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		7	63	0	0	0	0	7	63				
FMN2	56776	broad.mit.edu	37	1	240492727	240492727	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr1:240492727T>A	ENST00000319653.9	+	10	4626	c.4396T>A	c.(4396-4398)Tca>Aca	p.S1466T	FMN2_ENST00000545751.1_Missense_Mutation_p.S62T	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1466	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.S1609T(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AAGCATTTGCTCAATTCGTCG	0.408																																						uc010pyd.1		NA																	1	Substitution - Missense(1)		kidney(1)	ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(4396-4398)TCA>ACA		formin 2							155.0	144.0	148.0					1																	240492727		2203	4300	6503	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240492727T>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.4396T>A	1.37:g.240492727T>A	ENSP00000318884:p.Ser1466Thr					FMN2_uc010pye.1_Missense_Mutation_p.S1470T|FMN2_uc010pyf.1_Missense_Mutation_p.S112T|FMN2_uc010pyg.1_Missense_Mutation_p.S62T	p.S1466T	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		10	4621	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1466			FH2.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.4396T>A	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	T	21.0	4.085405	0.76642	.	.	ENSG00000155816	ENST00000319653;ENST00000545751;ENST00000537355	T;T	0.17528	2.27;2.27	5.65	5.65	0.86999	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.49916	D	0.000132	T	0.35219	0.0924	L	0.42686	1.345	0.80722	D	1	D;P;D;B	0.76494	0.999;0.739;0.957;0.392	D;B;P;B	0.81914	0.995;0.396;0.806;0.444	T	0.04840	-1.0923	10	0.66056	D	0.02	.	15.8761	0.79162	0.0:0.0:0.0:1.0	.	62;112;95;1466	B4DP05;F5H2C1;B4DN09;Q9NZ56	.;.;.;FMN2_HUMAN	T	1466;62;93	ENSP00000318884:S1466T;ENSP00000437918:S62T	ENSP00000318884:S1466T	S	+	1	0	FMN2	238559350	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.081000	0.57627	2.139000	0.66308	0.533000	0.62120	TCA		0.408	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		13	78	0	0	0	0	13	78				
ANKRD16	54522	broad.mit.edu	37	10	5929887	5929887	+	Missense_Mutation	SNP	A	A	G	rs112121948		TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr10:5929887A>G	ENST00000380094.5	-	2	1001	c.458T>C	c.(457-459)cTc>cCc	p.L153P	FBXO18_ENST00000362091.4_5'Flank|FBXO18_ENST00000397269.3_5'Flank|ANKRD16_ENST00000191063.8_Missense_Mutation_p.L153P|ANKRD16_ENST00000380092.4_Missense_Mutation_p.L153P	NM_019046.2	NP_061919.1	Q6P6B7	ANR16_HUMAN	ankyrin repeat domain 16	153										breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2)	12						CAGGTACTGGAGGATCAGAGG	0.532																																						uc010qat.1		NA																	0					0						c.(457-459)CTC>CCC		ankyrin repeat domain 16 isoform a							128.0	113.0	119.0					10																	5929887		2203	4300	6503	SO:0001583	missense	54522							g.chr10:5929887A>G	AL137614	CCDS31136.1, CCDS31137.1	10p15.1	2013-01-10			ENSG00000134461	ENSG00000134461		"""Ankyrin repeat domain containing"""	23471	protein-coding gene	gene with protein product							Standard	NM_019046		Approved	DKFZP434N1511	uc010qat.2	Q6P6B7	OTTHUMG00000017610	ENST00000380094.5:c.458T>C	10.37:g.5929887A>G	ENSP00000369436:p.Leu153Pro					ANKRD16_uc009xie.2_Missense_Mutation_p.L153P|ANKRD16_uc009xif.2_Missense_Mutation_p.L153P|ANKRD16_uc001iiq.2_Missense_Mutation_p.L153P|FBXO18_uc001iir.2_5'Flank|FBXO18_uc001iis.2_5'Flank|FBXO18_uc009xig.2_5'Flank	p.L153P	NM_019046	NP_061919	Q6P6B7	ANR16_HUMAN			2	1001	-			153			ANK 4.		A6NEF0|F8WEI4|Q9NT01	Missense_Mutation	SNP	ENST00000380094.5	37	c.458T>C	CCDS31136.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.149746	0.78001	.	.	ENSG00000134461	ENST00000380094;ENST00000380092;ENST00000191063	T;T;T	0.68181	-0.31;-0.31;-0.31	4.85	4.85	0.62838	Ankyrin repeat-containing domain (4);	0.149013	0.48286	D	0.000196	D	0.82995	0.5158	M	0.86740	2.835	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.71870	0.958;0.975;0.942	D	0.86538	0.1826	10	0.87932	D	0	-10.4281	14.4334	0.67266	1.0:0.0:0.0:0.0	.	153;153;153	Q6P6B7;C9JP28;F8WEI4	ANR16_HUMAN;.;.	P	153	ENSP00000369436:L153P;ENSP00000369434:L153P;ENSP00000352361:L153P	ENSP00000352361:L153P	L	-	2	0	ANKRD16	5969893	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.818000	0.91991	1.961000	0.56991	0.456000	0.33151	CTC		0.532	ANKRD16-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046611.2	XM_166138		13	54	0	0	0	0	13	54				
ARMC4	55130	broad.mit.edu	37	10	28151364	28151364	+	Splice_Site	SNP	G	G	C			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr10:28151364G>C	ENST00000305242.5	-	18	2890	c.2798C>G	c.(2797-2799)aCa>aGa	p.T933R	ARMC4_ENST00000545014.1_Splice_Site_p.T458R|ARMC4_ENST00000537576.1_Splice_Site_p.T625R	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	933					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.T933K(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GTTACTTACTGTATTTGCCAG	0.358																																						uc009xky.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)	6						c.(2797-2799)ACA>AGA		armadillo repeat containing 4							162.0	141.0	148.0					10																	28151364		2202	4300	6502	SO:0001630	splice_region_variant	55130						binding	g.chr10:28151364G>C	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.2799+1C>G	10.37:g.28151364G>C						ARMC4_uc010qds.1_Missense_Mutation_p.T458R|ARMC4_uc010qdt.1_Missense_Mutation_p.T625R|ARMC4_uc001itz.2_Missense_Mutation_p.T933R	p.T933R	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN			18	2896	-			933			ARM 8.		A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	c.2798C>G	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.368435	0.82463	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000545014	D;D;T	0.95035	-3.59;-3.59;-0.13	5.9	5.9	0.94986	Armadillo-like helical (1);Armadillo-type fold (1);	0.089924	0.85682	D	0.000000	D	0.96150	0.8745	M	0.73598	2.24	0.80722	D	1	P;P	0.49559	0.738;0.925	P;P	0.52343	0.696;0.619	D	0.95210	0.8324	10	0.44086	T	0.13	-31.3113	20.2789	0.98501	0.0:0.0:1.0:0.0	.	458;933	B7Z7I1;Q5T2S8	.;ARMC4_HUMAN	R	625;933;458	ENSP00000443208:T625R;ENSP00000306410:T933R;ENSP00000441076:T458R	ENSP00000306410:T933R	T	-	2	0	ARMC4	28191370	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	9.653000	0.98506	2.788000	0.95919	0.650000	0.86243	ACA		0.358	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076	Missense_Mutation	16	36	0	0	0	0	16	36				
KIAA1462	57608	broad.mit.edu	37	10	30317109	30317109	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr10:30317109T>A	ENST00000375377.1	-	3	2069	c.1968A>T	c.(1966-1968)gaA>gaT	p.E656D		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	656					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GTCTGTCTTCTTCTGGTTCCC	0.522																																						uc001iux.2		NA																	0				ovary(4)	4						c.(1966-1968)GAA>GAT		hypothetical protein LOC57608							158.0	148.0	151.0					10																	30317109		1952	4155	6107	SO:0001583	missense	57608							g.chr10:30317109T>A	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.1968A>T	10.37:g.30317109T>A	ENSP00000364526:p.Glu656Asp					KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.E518D|KIAA1462_uc009xle.1_Missense_Mutation_p.E656D	p.E656D	NM_020848	NP_065899	Q9P266	K1462_HUMAN			2	2027	-			656					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	c.1968A>T	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.062637	0.76187	.	.	ENSG00000165757	ENST00000375377	T	0.15017	2.46	5.52	1.74	0.24563	.	0.560750	0.19858	N	0.104490	T	0.13586	0.0329	L	0.55481	1.735	0.20196	N	0.999924	B	0.22003	0.063	B	0.22601	0.04	T	0.26467	-1.0102	10	0.22706	T	0.39	-6.4042	5.0312	0.14411	0.0:0.2262:0.1439:0.6299	.	656	Q9P266	K1462_HUMAN	D	656	ENSP00000364526:E656D	ENSP00000364526:E656D	E	-	3	2	KIAA1462	30357115	0.440000	0.25618	0.008000	0.14137	0.601000	0.36947	0.503000	0.22610	0.365000	0.24400	0.402000	0.26972	GAA		0.522	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		11	47	0	0	0	0	11	47				
EGR2	1959	broad.mit.edu	37	10	64575770	64575770	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr10:64575770A>G	ENST00000242480.3	-	1	345	c.20T>C	c.(19-21)gTa>gCa	p.V7A	EGR2_ENST00000439032.1_Missense_Mutation_p.V7A|EGR2_ENST00000411732.1_Intron|EGR2_ENST00000493899.2_Intron	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	7					brain development (GO:0007420)|brain segmentation (GO:0035284)|cell death (GO:0008219)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|facial nerve structural organization (GO:0021612)|fat cell differentiation (GO:0045444)|learning or memory (GO:0007611)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein sumoylation (GO:0016925)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ossification (GO:0030278)|response to insulin (GO:0032868)|rhombomere 3 formation (GO:0021660)|rhombomere 5 formation (GO:0021666)|rhythmic behavior (GO:0007622)|Schwann cell differentiation (GO:0014037)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					GATTTTGTCTACGGCCTTGGC	0.562																																						uc010qim.1		NA																	0				ovary(2)	2						c.(19-21)GTA>GCA		early growth response 2 protein isoform a							206.0	189.0	194.0					10																	64575770		2203	4300	6503	SO:0001583	missense	1959				fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	g.chr10:64575770A>G	BC035625	CCDS7267.1, CCDS44409.1	10q21.1	2014-09-17	2009-04-23		ENSG00000122877	ENSG00000122877		"""Zinc fingers, C2H2-type"""	3239	protein-coding gene	gene with protein product	"""Krox-20 homolog, Drosophila"""	129010	"""early growth response 2 (Krox-20 homolog, Drosophila)"""	KROX20			Standard	NM_000399		Approved		uc001jmi.3	P11161	OTTHUMG00000018308	ENST00000242480.3:c.20T>C	10.37:g.64575770A>G	ENSP00000242480:p.Val7Ala					EGR2_uc010qin.1_Intron|EGR2_uc001jmi.2_Missense_Mutation_p.V7A|EGR2_uc010qio.1_Intron|EGR2_uc009xph.2_Missense_Mutation_p.V7A	p.V7A	NM_001136177	NP_001129649	P11161	EGR2_HUMAN			2	174	-	Prostate(12;0.0297)|all_hematologic(501;0.228)		7					B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	Missense_Mutation	SNP	ENST00000242480.3	37	c.20T>C	CCDS7267.1	.	.	.	.	.	.	.	.	.	.	A	6.675	0.493159	0.12702	.	.	ENSG00000122877	ENST00000242480;ENST00000439032	T;T	0.11495	2.77;2.77	5.14	5.14	0.70334	.	0.152805	0.44097	D	0.000499	T	0.05640	0.0148	N	0.05441	-0.05	0.80722	D	1	B	0.19073	0.033	B	0.12156	0.007	T	0.28235	-1.0050	10	0.08179	T	0.78	-4.1894	14.2229	0.65839	1.0:0.0:0.0:0.0	.	7	P11161	EGR2_HUMAN	A	7	ENSP00000242480:V7A;ENSP00000402040:V7A	ENSP00000242480:V7A	V	-	2	0	EGR2	64245776	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.234000	0.65343	2.064000	0.61679	0.459000	0.35465	GTA		0.562	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048245.2	NM_000399		72	90	0	0	0	0	72	90				
JMJD1C	221037	broad.mit.edu	37	10	64974163	64974163	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr10:64974163G>C	ENST00000399262.2	-	8	1982	c.1764C>G	c.(1762-1764)caC>caG	p.H588Q	JMJD1C_ENST00000542921.1_Missense_Mutation_p.H406Q|JMJD1C_ENST00000489372.2_5'Flank|JMJD1C_ENST00000402544.1_Missense_Mutation_p.H369Q|JMJD1C_ENST00000399251.1_Missense_Mutation_p.H369Q	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	588					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CCATGTTCAAGTGATCATTTC	0.393																																						uc001jmn.2		NA																	0				ovary(4)|breast(1)|central_nervous_system(1)	6						c.(1762-1764)CAC>CAG		jumonji domain containing 1C isoform a							90.0	81.0	84.0					10																	64974163		1886	4128	6014	SO:0001583	missense	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64974163G>C	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.1764C>G	10.37:g.64974163G>C	ENSP00000382204:p.His588Gln					JMJD1C_uc001jml.2_Missense_Mutation_p.H369Q|JMJD1C_uc001jmm.2_Missense_Mutation_p.H300Q|JMJD1C_uc010qiq.1_Missense_Mutation_p.H406Q|JMJD1C_uc009xpi.2_Missense_Mutation_p.H406Q|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmp.1_Missense_Mutation_p.H300Q	p.H588Q	NM_032776	NP_116165	Q15652	JHD2C_HUMAN			8	2064	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		588					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	c.1764C>G	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	G	8.782	0.928438	0.18131	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	6.03	-4.66	0.03329	.	0.572400	0.19782	N	0.106189	T	0.21962	0.0529	L	0.36672	1.1	0.09310	N	1	B;B	0.21688	0.059;0.047	B;B	0.20577	0.03;0.022	T	0.07366	-1.0776	10	0.34782	T	0.22	0.2525	2.2987	0.04156	0.4118:0.0916:0.3127:0.1839	.	588;406	Q15652;A0T124	JHD2C_HUMAN;.	Q	588;369;369;406	ENSP00000382204:H588Q;ENSP00000384990:H369Q;ENSP00000382195:H369Q;ENSP00000444682:H406Q	ENSP00000382195:H369Q	H	-	3	2	JMJD1C	64644169	0.673000	0.27539	0.002000	0.10522	0.897000	0.52465	0.239000	0.18023	-0.684000	0.05183	0.655000	0.94253	CAC		0.393	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		5	35	0	0	0	0	5	35				
PLCE1	51196	broad.mit.edu	37	10	95791986	95791986	+	Silent	SNP	C	C	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr10:95791986C>T	ENST00000371380.3	+	1	1418	c.1183C>T	c.(1183-1185)Ctg>Ttg	p.L395L	PLCE1_ENST00000260766.3_Silent_p.L395L			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	395					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GAGCCAACGTCTGTCAGAAGC	0.408																																						uc001kjk.2		NA																	0				ovary(2)|skin(1)	3						c.(1183-1185)CTG>TTG		phospholipase C, epsilon 1 isoform 1							93.0	94.0	94.0					10																	95791986		1905	4131	6036	SO:0001819	synonymous_variant	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:95791986C>T		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.1183C>T	10.37:g.95791986C>T						PLCE1_uc010qnx.1_Silent_p.L395L	p.L395L	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN			2	1817	+		Colorectal(252;0.0458)	395					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Silent	SNP	ENST00000371380.3	37	c.1183C>T	CCDS41552.1																																																																																				0.408	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		5	37	0	0	0	0	5	37				
CC2D2B	387707	broad.mit.edu	37	10	97769618	97769618	+	Missense_Mutation	SNP	A	A	G	rs552645367		TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr10:97769618A>G	ENST00000344386.3	+	3	222	c.58A>G	c.(58-60)Ata>Gta	p.I20V	RP11-690P14.4_ENST00000475252.2_3'UTR|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|CC2D2B_ENST00000410012.2_Missense_Mutation_p.I20V|ENTPD1-AS1_ENST00000454638.1_RNA|CC2D2B_ENST00000371198.2_Missense_Mutation_p.I111V	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	20										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		TCACTCATATATAAGAAAGAA	0.318													A|||	1	0.000199681	0.0	0.0	5008	,	,		17807	0.0		0.0	False		,,,				2504	0.001					uc001kll.2		NA																	0				ovary(1)	1						c.(58-60)ATA>GTA		coiled-coil and C2 domain containing 2B isoform							150.0	138.0	141.0					10																	97769618		1848	4080	5928	SO:0001583	missense	387707							g.chr10:97769618A>G	BC075861	CCDS41555.1, CCDS53560.1	10q23.33	2008-11-06	2007-10-19	2007-10-19	ENSG00000188649	ENSG00000188649			31666	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 130"""	C10orf130			Standard	NM_001001732		Approved	bA248J23.4	uc010qop.2	Q6DHV5	OTTHUMG00000018820	ENST00000344386.3:c.58A>G	10.37:g.97769618A>G	ENSP00000343747:p.Ile20Val					uc001klg.1_Intron|uc001klj.1_Intron|CC2D2B_uc001klk.2_RNA|CC2D2B_uc010qop.1_Missense_Mutation_p.I20V	p.I20V	NM_001001732	NP_001001732	Q6DHV5	C2D2B_HUMAN		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)	3	257	+		Colorectal(252;0.158)	20					A2A3E9|B4DYD4|E9PCC3|Q5VUS0	Missense_Mutation	SNP	ENST00000344386.3	37	c.58A>G	CCDS41555.1	.	.	.	.	.	.	.	.	.	.	A	10.84	1.464902	0.26335	.	.	ENSG00000188649	ENST00000371198;ENST00000424464;ENST00000451649;ENST00000410012;ENST00000344386	D;D;D;T	0.93811	-3.29;-3.29;-1.65;-0.99	5.59	-4.49	0.03504	.	.	.	.	.	D	0.86301	0.5900	L	0.42686	1.345	0.18873	N	0.999985	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.70809	-0.4771	9	0.32370	T	0.25	.	3.9394	0.09319	0.3001:0.1262:0.4508:0.1229	.	20;20	E9PCC3;Q6DHV5	.;C2D2B_HUMAN	V	111;20;20;20;20	ENSP00000360241:I111V;ENSP00000391834:I20V;ENSP00000386988:I20V;ENSP00000343747:I20V	ENSP00000343747:I20V	I	+	1	0	CC2D2B	97759608	0.364000	0.24997	0.711000	0.30485	0.894000	0.52154	-0.506000	0.06359	-1.122000	0.02945	0.524000	0.50904	ATA		0.318	CC2D2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049573.3	NM_001001732		4	30	0	0	0	0	4	30				
ABCC2	1244	broad.mit.edu	37	10	101578649	101578649	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr10:101578649G>T	ENST00000370449.4	+	18	2487	c.2374G>T	c.(2374-2376)Gat>Tat	p.D792Y		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	792	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	GTCTGCAGTGGATGCTCATGT	0.433																																						uc001kqf.2		NA																	0				ovary(1)	1						c.(2374-2376)GAT>TAT		ATP-binding cassette, sub-family C (CFTR/MRP),	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						69.0	73.0	72.0					10																	101578649		2203	4300	6503	SO:0001583	missense	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101578649G>T	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.2374G>T	10.37:g.101578649G>T	ENSP00000359478:p.Asp792Tyr						p.D792Y	NM_000392	NP_000383	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	18	2513	+		Colorectal(252;0.234)	792			Cytoplasmic (By similarity).|ABC transporter 1.		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	c.2374G>T	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079900	0.76528	.	.	ENSG00000023839	ENST00000370449	D	0.96073	-3.9	6.08	5.17	0.71159	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.98985	0.9654	H	0.99874	4.875	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.98858	1.0761	10	0.87932	D	0	-5.9431	16.6493	0.85185	0.0:0.1297:0.8703:0.0	.	792	Q92887	MRP2_HUMAN	Y	792	ENSP00000359478:D792Y	ENSP00000359478:D792Y	D	+	1	0	ABCC2	101568639	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	9.866000	0.99616	1.571000	0.49722	0.655000	0.94253	GAT		0.433	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		30	22	1	0	4.43e-23	6.11e-23	30	22				
PAX2	5076	broad.mit.edu	37	10	102584502	102584502	+	Silent	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr10:102584502G>A	ENST00000428433.1	+	9	1636	c.1086G>A	c.(1084-1086)gtG>gtA	p.V362V	PAX2_ENST00000361791.3_Silent_p.V339V|PAX2_ENST00000355243.3_Silent_p.V339V|PAX2_ENST00000556085.1_Silent_p.V338V|PAX2_ENST00000370296.2_Silent_p.V362V	NM_003987.3|NM_003990.3	NP_003978|NP_003981.2	Q02962	PAX2_HUMAN	paired box 2	362					aging (GO:0007568)|axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cell fate determination (GO:0001709)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucose stimulus (GO:0071333)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|glial cell differentiation (GO:0010001)|inner ear morphogenesis (GO:0042472)|mesenchymal to epithelial transition (GO:0060231)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|mesonephric duct development (GO:0072177)|mesonephric tubule formation (GO:0072172)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric nephron tubule formation (GO:0072289)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytolysis (GO:0045918)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of programmed cell death (GO:0043069)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|neural tube closure (GO:0001843)|optic chiasma development (GO:0061360)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|optic nerve development (GO:0021554)|optic nerve morphogenesis (GO:0021631)|optic nerve structural organization (GO:0021633)|pancreas development (GO:0031016)|paramesonephric duct development (GO:0061205)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of optic nerve formation (GO:2000597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|protein kinase B signaling (GO:0043491)|reactive oxygen species metabolic process (GO:0072593)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of metanephros size (GO:0035566)|response to nutrient levels (GO:0031667)|retinal pigment epithelium development (GO:0003406)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|ureter development (GO:0072189)|ureter maturation (GO:0035799)|ureter morphogenesis (GO:0072197)|urogenital system development (GO:0001655)|vestibulocochlear nerve formation (GO:0021650)|visual perception (GO:0007601)	centriolar satellite (GO:0034451)|lysosome (GO:0005764)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|superoxide-generating NADPH oxidase activity (GO:0016175)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		CAGGAATGGTGCCTGGTAGGT	0.617																																						uc001krk.3		NA																	0					0						c.(1084-1086)GTG>GTA		paired box protein 2 isoform e							79.0	72.0	75.0					10																	102584502		2203	4300	6503	SO:0001819	synonymous_variant	5076				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity	g.chr10:102584502G>A		CCDS7499.1, CCDS41561.1	10q24.31	2011-06-20	2007-07-12		ENSG00000075891	ENSG00000075891		"""Paired boxes"", ""Homeoboxes / PRD class"""	8616	protein-coding gene	gene with protein product		167409	"""paired box gene 2"""			8431641, 7981748	Standard	NM_003990		Approved		uc001krk.4	Q02962	OTTHUMG00000018913	ENST00000428433.1:c.1086G>A	10.37:g.102584502G>A						PAX2_uc001krl.3_Silent_p.V339V|PAX2_uc001krm.3_Silent_p.V362V|PAX2_uc001kro.3_Silent_p.V339V|PAX2_uc001krn.3_Silent_p.V339V|PAX2_uc010qps.1_Silent_p.V338V|PAX2_uc001krp.1_Silent_p.V335V	p.V362V	NM_003990	NP_003981	Q02962	PAX2_HUMAN		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)	9	1636	+		Colorectal(252;0.234)	362					Q15105|Q15110|Q15837|Q5SZP2|Q5SZP3	Silent	SNP	ENST00000428433.1	37	c.1086G>A	CCDS53569.1																																																																																				0.617	PAX2-202	KNOWN	basic|CCDS	protein_coding	protein_coding				21	99	0	0	0	0	21	99				
POLL	27343	broad.mit.edu	37	10	103342623	103342623	+	Missense_Mutation	SNP	C	C	A	rs146112511		TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr10:103342623C>A	ENST00000370162.3	-	7	1585	c.1091G>T	c.(1090-1092)cGc>cTc	p.R364L	POLL_ENST00000339310.3_Missense_Mutation_p.R87L|POLL_ENST00000370158.3_Missense_Mutation_p.R89L|POLL_ENST00000299206.4_Missense_Mutation_p.R364L|POLL_ENST00000456836.2_Missense_Mutation_p.R101L|POLL_ENST00000463515.1_5'Flank|DPCD_ENST00000416979.2_Intron|DPCD_ENST00000470165.1_Intron|POLL_ENST00000370169.1_Missense_Mutation_p.R364L|POLL_ENST00000370168.3_Missense_Mutation_p.R37L|POLL_ENST00000370172.1_Missense_Mutation_p.R276L	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	364					DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|nucleotide-excision repair (GO:0006289)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		GGCCTGGCTGCGGATGTCTTC	0.552								DNA polymerases (catalytic subunits)																														uc001ktg.1		NA																	0					0						c.(1090-1092)CGC>CTC	DNA_polymerases_(catalytic_subunits)	DNA-directed DNA polymerase lambda							96.0	86.0	89.0					10																	103342623		2203	4300	6503	SO:0001583	missense	27343				DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding	g.chr10:103342623C>A	AF161019	CCDS7513.1	10q23	2012-05-18			ENSG00000166169	ENSG00000166169		"""DNA polymerases"""	9184	protein-coding gene	gene with protein product		606343				17686665	Standard	NM_001174084		Approved		uc001kti.2	Q9UGP5	OTTHUMG00000018933	ENST00000370162.3:c.1091G>T	10.37:g.103342623C>A	ENSP00000359181:p.Arg364Leu					DPCD_uc010qpz.1_Intron|POLL_uc001ktd.1_Missense_Mutation_p.R37L|POLL_uc001kte.1_Missense_Mutation_p.R56L|POLL_uc001kth.1_Missense_Mutation_p.R89L|POLL_uc001kti.1_Missense_Mutation_p.R364L|POLL_uc001ktj.1_Missense_Mutation_p.R364L|POLL_uc001ktf.2_Missense_Mutation_p.R272L|POLL_uc001ktk.1_Missense_Mutation_p.R103L|POLL_uc010qqa.1_Missense_Mutation_p.R103L|POLL_uc010qqb.1_RNA|POLL_uc001ktm.2_Missense_Mutation_p.R364L|POLL_uc001ktl.2_Missense_Mutation_p.R276L|POLL_uc010qqc.1_Missense_Mutation_p.R56L	p.R364L	NM_013274	NP_037406	Q9UGP5	DPOLL_HUMAN		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)	6	1857	-		Colorectal(252;0.234)	364					D3DR76|Q5JQP5|Q6NUM2|Q9BTN8|Q9HA10|Q9HB35	Missense_Mutation	SNP	ENST00000370162.3	37	c.1091G>T	CCDS7513.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.067637	0.55539	.	.	ENSG00000166169	ENST00000299206;ENST00000370174;ENST00000370169;ENST00000339310;ENST00000370172;ENST00000370168;ENST00000370162;ENST00000370158;ENST00000370157;ENST00000456836;ENST00000415897;ENST00000429502	T;T;T;T;T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81	5.61	1.09	0.20402	DNA-directed DNA polymerase X (1);DNA polymerase lambda, fingers domain (2);	0.162814	0.56097	D	0.000024	T	0.55673	0.1935	M	0.66378	2.025	0.80722	D	1	B;P;P;D;D;P	0.56287	0.02;0.763;0.94;0.96;0.975;0.6	B;B;B;B;P;B	0.53861	0.032;0.123;0.34;0.406;0.736;0.166	T	0.60687	-0.7214	10	0.87932	D	0	-29.7121	11.8579	0.52449	0.0:0.7193:0.0:0.2807	.	87;101;89;364;272;37	Q5JQP4;B4DEF5;Q9BTN8;Q9UGP5;A8K860;Q9HBN3	.;.;.;DPOLL_HUMAN;.;.	L	364;364;364;87;276;37;364;89;364;101;272;87	ENSP00000299206:R364L;ENSP00000359188:R364L;ENSP00000343102:R87L;ENSP00000359191:R276L;ENSP00000359187:R37L;ENSP00000359181:R364L;ENSP00000359177:R89L;ENSP00000390810:R101L;ENSP00000400676:R272L;ENSP00000406791:R87L	ENSP00000299206:R364L	R	-	2	0	POLL	103332613	1.000000	0.71417	0.691000	0.30163	0.953000	0.61014	1.076000	0.30729	0.307000	0.22880	0.555000	0.69702	CGC		0.552	POLL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049946.1	NM_013274		14	89	1	0	3.27e-08	4.03e-08	14	89				
GBF1	8729	broad.mit.edu	37	10	104018750	104018750	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr10:104018750G>A	ENST00000369983.3	+	2	315	c.55G>A	c.(55-57)Gcc>Acc	p.A19T	AL160011.1_ENST00000516180.2_RNA	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	19					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TGTGGTTGGGGCCATCAAACG	0.408																																						uc001kux.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(55-57)GCC>ACC		golgi-specific brefeldin A resistant guanine							136.0	144.0	141.0					10																	104018750		2203	4300	6503	SO:0001583	missense	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104018750G>A	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.55G>A	10.37:g.104018750G>A	ENSP00000359000:p.Ala19Thr					GBF1_uc001kuw.2_Missense_Mutation_p.A19T|GBF1_uc001kuy.1_Missense_Mutation_p.A19T|GBF1_uc001kuz.1_Missense_Mutation_p.A19T	p.A19T	NM_004193	NP_004184	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	2	295	+		Colorectal(252;0.0236)	19					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	c.55G>A	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	G	36	5.642840	0.96704	.	.	ENSG00000107862	ENST00000369983	T	0.11930	2.73	5.95	5.95	0.96441	.	0.061602	0.64402	D	0.000007	T	0.35566	0.0936	L	0.56199	1.76	0.80722	D	1	D;D;D;P	0.71674	0.994;0.998;0.996;0.865	P;D;D;P	0.72338	0.868;0.914;0.977;0.521	T	0.00265	-1.1865	10	0.44086	T	0.13	-12.8157	20.3931	0.98965	0.0:0.0:1.0:0.0	.	19;19;19;19	Q149P1;Q149P0;Q92538;Q504U7	.;.;GBF1_HUMAN;.	T	19	ENSP00000359000:A19T	ENSP00000359000:A19T	A	+	1	0	GBF1	104008740	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.735000	0.91549	2.824000	0.97209	0.655000	0.94253	GCC		0.408	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			19	138	0	0	0	0	19	138				
GFRA1	2674	broad.mit.edu	37	10	117849257	117849257	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr10:117849257A>T	ENST00000355422.6	-	9	1742	c.1192T>A	c.(1192-1194)Tta>Ata	p.L398I	GFRA1_ENST00000369236.1_Missense_Mutation_p.L393I|GFRA1_ENST00000544592.1_Missense_Mutation_p.L277I|GFRA1_ENST00000439649.3_Missense_Mutation_p.L393I	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	398					axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		CTCACCTGTAAATTTGCACAC	0.547																																					Ovarian(128;329 1725 45498 46808 50759)	uc001lcj.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1192-1194)TTA>ATA		GDNF family receptor alpha 1 isoform a							100.0	98.0	99.0					10																	117849257		2203	4300	6503	SO:0001583	missense	2674				axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	g.chr10:117849257A>T	AF038421	CCDS7593.1, CCDS44481.1	10q25-q26	2011-01-25			ENSG00000151892	ENSG00000151892			4243	protein-coding gene	gene with protein product		601496		GDNFRA		9465905, 9545641	Standard	NM_005264		Approved	RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1	uc001lcj.3	P56159	OTTHUMG00000019097	ENST00000355422.6:c.1192T>A	10.37:g.117849257A>T	ENSP00000347591:p.Leu398Ile					GFRA1_uc001lci.2_Missense_Mutation_p.L393I|GFRA1_uc009xyr.2_Missense_Mutation_p.L393I	p.L398I	NM_005264	NP_005255	P56159	GFRA1_HUMAN		all cancers(201;0.0337)	9	1890	-		Lung NSC(174;0.21)	398					A8KA21|O15507|O43912	Missense_Mutation	SNP	ENST00000355422.6	37	c.1192T>A	CCDS44481.1	.	.	.	.	.	.	.	.	.	.	A	11.38	1.621525	0.28889	.	.	ENSG00000151892	ENST00000439649;ENST00000369236;ENST00000355422;ENST00000544592;ENST00000369234	T;T;T	0.52754	1.41;1.28;0.65	5.91	3.57	0.40892	.	0.000000	0.85682	D	0.000000	T	0.28962	0.0719	L	0.45228	1.405	0.80722	D	1	B;B	0.32829	0.386;0.319	B;B	0.26416	0.052;0.069	T	0.05801	-1.0863	10	0.10377	T	0.69	-9.2175	4.3782	0.11281	0.6481:0.0:0.3519:0.0	.	398;393	P56159;P56159-2	GFRA1_HUMAN;.	I	398;393;393;277;393	ENSP00000393725:L398I;ENSP00000358239:L393I;ENSP00000442179:L277I	ENSP00000347591:L393I	L	-	1	2	GFRA1	117839247	1.000000	0.71417	0.998000	0.56505	0.885000	0.51271	1.393000	0.34497	1.050000	0.40346	0.533000	0.62120	TTA		0.547	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050512.2	NM_145793		19	126	0	0	0	0	19	126				
KCNK18	338567	broad.mit.edu	37	10	118957108	118957108	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr10:118957108G>T	ENST00000334549.1	+	1	109	c.109G>T	c.(109-111)Ggt>Tgt	p.G37C		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	37					cellular response to pH (GO:0071467)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CGCCCTGGTGGGTGCTGTGGT	0.597																																						uc010qsr.1		NA																	0				upper_aerodigestive_tract(1)	1						c.(109-111)GGT>TGT		potassium channel, subfamily K, member 18							94.0	77.0	83.0					10																	118957108		2203	4300	6503	SO:0001583	missense	338567					integral to membrane|plasma membrane		g.chr10:118957108G>T	AB087138	CCDS7598.1	10q26.11	2012-03-07			ENSG00000186795	ENSG00000186795		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	19439	protein-coding gene	gene with protein product	"""TWIK related spinal cord K+ channel"""	613655				16382106	Standard	NM_181840		Approved	K2p18.1, TRESK-2, TRESK2, TRESK, TRIK	uc010qsr.2	Q7Z418	OTTHUMG00000019120	ENST00000334549.1:c.109G>T	10.37:g.118957108G>T	ENSP00000334650:p.Gly37Cys						p.G37C	NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN		all cancers(201;0.0211)	1	109	+		Colorectal(252;0.19)	37			Helical; (Potential).		Q5SQQ8	Missense_Mutation	SNP	ENST00000334549.1	37	c.109G>T	CCDS7598.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.856105	0.51376	.	.	ENSG00000186795	ENST00000334549	T	0.28895	1.59	4.27	4.27	0.50696	.	0.000000	0.85682	D	0.000000	T	0.39436	0.1078	L	0.34521	1.04	0.51482	D	0.999928	D	0.58620	0.983	P	0.58721	0.844	T	0.24728	-1.0152	10	0.87932	D	0	.	14.517	0.67826	0.0:0.0:1.0:0.0	.	37	Q7Z418	KCNKI_HUMAN	C	37	ENSP00000334650:G37C	ENSP00000334650:G37C	G	+	1	0	KCNK18	118947098	1.000000	0.71417	0.872000	0.34217	0.884000	0.51177	4.418000	0.59828	2.665000	0.90641	0.561000	0.74099	GGT		0.597	KCNK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050562.2	NM_181840		29	27	1	0	9.39e-14	1.24e-13	29	27				
PWWP2B	170394	broad.mit.edu	37	10	134218293	134218293	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr10:134218293A>C	ENST00000305233.5	+	2	348	c.289A>C	c.(289-291)Acc>Ccc	p.T97P	PWWP2B_ENST00000368609.4_Missense_Mutation_p.T97P	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	97	Pro-rich.									central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CCCCGAGACCACCCGCCCCGA	0.756																																						uc001lll.3		NA																	0					0						c.(289-291)ACC>CCC		PWWP domain containing 2 isoform 1							8.0	10.0	9.0					10																	134218293		2012	4035	6047	SO:0001583	missense	170394							g.chr10:134218293A>C	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"""PWWP domain containing 2"""	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.289A>C	10.37:g.134218293A>C	ENSP00000306324:p.Thr97Pro					PWWP2B_uc009ybe.2_Missense_Mutation_p.T97P	p.T97P	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)	2	318	+		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)	97			Pro-rich.		A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Missense_Mutation	SNP	ENST00000305233.5	37	c.289A>C	CCDS7667.2	.	.	.	.	.	.	.	.	.	.	A	5.486	0.274753	0.10403	.	.	ENSG00000171813	ENST00000305233;ENST00000368609	T;T	0.56275	0.47;1.46	2.52	-4.44	0.03557	.	0.656446	0.13135	U	0.411121	T	0.27027	0.0662	N	0.19112	0.55	0.09310	N	1	B	0.27192	0.171	B	0.18263	0.021	T	0.06899	-1.0801	10	0.37606	T	0.19	2.6811	4.8705	0.13629	0.4748:0.0:0.3827:0.1425	.	97	Q6NUJ5	PWP2B_HUMAN	P	97	ENSP00000306324:T97P;ENSP00000357598:T97P	ENSP00000306324:T97P	T	+	1	0	PWWP2B	134068283	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.981000	0.00662	-0.950000	0.03659	-1.114000	0.02060	ACC		0.756	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499		6	17	0	0	0	0	6	17				
INPP5A	3632	broad.mit.edu	37	10	134464009	134464009	+	Splice_Site	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr10:134464009G>T	ENST00000368594.3	+	4	583	c.306G>T	c.(304-306)acG>acT	p.T102T	INPP5A_ENST00000368593.3_Splice_Site_p.T102T	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	102					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|PH domain binding (GO:0042731)			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		AGCACTTCACGGTGAGTCCCT	0.542																																					Pancreas(63;823 1267 11107 20380 51626)	uc001llp.2		NA																	0				skin(1)	1						c.(304-306)ACG>ACT		inositol polyphosphate-5-phosphatase A							125.0	127.0	127.0					10																	134464009		2203	4300	6503	SO:0001630	splice_region_variant	3632				cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding	g.chr10:134464009G>T	X77567	CCDS7669.2	10q26.3	2008-08-07	2002-08-29		ENSG00000068383	ENSG00000068383	3.1.3.56		6076	protein-coding gene	gene with protein product	"""CTCL tumor antigen HD-CL-02"", ""43 kDa inositol polyphosphate 5-phophatase"", ""inositol polyphosphate 5-phophatase, 40kDa"", ""InsP3 5-phosphatase"", ""type I inositol-1,4,5-trisphosphate 5-phosphatase"""	600106	"""inositol polyphosphate-5-phosphatase, 40kD"""			8013665	Standard	NM_005539		Approved	5PTASE	uc001llp.3	Q14642	OTTHUMG00000019293	ENST00000368594.3:c.306+1G>T	10.37:g.134464009G>T						INPP5A_uc001llo.1_Silent_p.T102T|INPP5A_uc001llq.2_Silent_p.T54T	p.T102T	NM_005539	NP_005530	Q14642	I5P1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)	4	554	+		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)	102					D3DXI3|Q14640|Q5JSF1	Silent	SNP	ENST00000368594.3	37	c.306G>T	CCDS7669.2	.	.	.	.	.	.	.	.	.	.	G	8.762	0.923817	0.18056	.	.	ENSG00000068383	ENST00000342652	.	.	.	4.91	-3.77	0.04346	.	.	.	.	.	T	0.50394	0.1613	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45877	-0.9231	4	.	.	.	-19.368	7.5067	0.27549	0.5246:0.1161:0.3593:0.0	.	.	.	.	C	74	.	.	G	+	1	0	INPP5A	134313999	0.992000	0.36948	0.494000	0.27515	0.823000	0.46562	0.305000	0.19254	-0.967000	0.03582	-0.136000	0.14681	GGC		0.542	INPP5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051085.1	NM_005539	Silent	62	70	1	0	3.74e-36	5.27e-36	62	70				
CYP2E1	1571	broad.mit.edu	37	10	135346244	135346244	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr10:135346244A>T	ENST00000463117.2	+	7	969	c.697A>T	c.(697-699)Aga>Tga	p.R233*	SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Nonsense_Mutation_p.R233*			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	233					drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organonitrogen compound (GO:0010243)|response to ozone (GO:0010193)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|triglyceride metabolic process (GO:0006641)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TGGAAGCCACAGAAAAGTCAT	0.408									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																													uc001lnj.1		NA																	0				central_nervous_system(3)	3						c.(697-699)AGA>TGA		cytochrome P450, family 2, subfamily E,	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)						120.0	131.0	128.0					10																	135346244		2203	4300	6503	SO:0001587	stop_gained	1571	Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Familial Cancer Database	incl.: Familial Head and Neck Cancer	drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding	g.chr10:135346244A>T	J02843	CCDS7686.1	10q26.3	2013-05-03	2003-01-14	2002-09-13	ENSG00000130649	ENSG00000130649		"""Cytochrome P450s"""	2631	protein-coding gene	gene with protein product		124040	"""cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1"""	CYP2E			Standard	NM_000773		Approved		uc001lnj.1	P05181	OTTHUMG00000019322	ENST00000463117.2:c.697A>T	10.37:g.135346244A>T	ENSP00000440689:p.Arg233*					CYP2E1_uc001lnk.1_Nonsense_Mutation_p.R96*|CYP2E1_uc009ybl.1_Nonsense_Mutation_p.R34*|CYP2E1_uc009ybm.1_5'UTR|CYP2E1_uc001lnl.1_Nonsense_Mutation_p.R34*	p.R233*	NM_000773	NP_000764	P05181	CP2E1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	5	730	+		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	233					Q5VZD5|Q6NWT9|Q9UK47	Nonsense_Mutation	SNP	ENST00000463117.2	37	c.697A>T	CCDS7686.1	.	.	.	.	.	.	.	.	.	.	A	16.16	3.045767	0.55110	.	.	ENSG00000130649	ENST00000463117;ENST00000252945;ENST00000421586;ENST00000418356	.	.	.	4.48	4.48	0.54585	.	0.236251	0.50627	D	0.000112	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.3962	0.55386	1.0:0.0:0.0:0.0	.	.	.	.	X	233;233;146;96	.	ENSP00000252945:R233X	R	+	1	2	CYP2E1	135196234	0.000000	0.05858	0.013000	0.15412	0.191000	0.23601	0.340000	0.19892	2.246000	0.74042	0.533000	0.62120	AGA		0.408	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051161.2	NM_000773		26	174	0	0	0	0	26	174				
MOB2	81532	broad.mit.edu	37	11	1491670	1491670	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr11:1491670C>G	ENST00000329957.6	-	5	728	c.539G>C	c.(538-540)aGa>aCa	p.R180T	MOB2_ENST00000526462.1_5'UTR	NM_001172223.1	NP_001165694.1	Q70IA6	MOB2_HUMAN	MOB kinase activator 2	149					actin cytoskeleton organization (GO:0030036)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein phosphorylation (GO:0001934)	cytoplasm (GO:0005737)|neuron projection terminus (GO:0044306)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|kidney(2)|lung(1)	4						GAACAGGTGTCTGCAGATCTT	0.587																																						uc010qwz.1		NA																	0					0						c.(538-540)AGA>ACA		HCCA2 protein							95.0	103.0	100.0					11																	1491670		2102	4208	6310	SO:0001583	missense	81532					nucleus|perinuclear region of cytoplasm	metal ion binding	g.chr11:1491670C>G		CCDS53591.1	11p15.5	2011-09-28			ENSG00000182208	ENSG00000182208		"""MOB kinase activators"""	24904	protein-coding gene	gene with protein product	"""MOB2 Mps One Binder homolog (yeast)"""	611969				11223154, 15067004	Standard	NM_053005		Approved	HCCA2	uc010qwz.2	Q70IA6	OTTHUMG00000165545	ENST00000329957.6:c.539G>C	11.37:g.1491670C>G	ENSP00000328694:p.Arg180Thr					MOB2_uc001lto.1_Missense_Mutation_p.R64T|MOB2_uc001ltp.1_5'UTR|MOB2_uc001ltq.1_Missense_Mutation_p.R143T|MOB2_uc010qwy.1_Missense_Mutation_p.R64T	p.R180T	NM_053005	NP_443731	Q70IA6	MOB2_HUMAN			5	729	-			149					B4DKP3|Q96M67	Missense_Mutation	SNP	ENST00000329957.6	37	c.539G>C	CCDS53591.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.155201	0.38021	.	.	ENSG00000182208	ENST00000329957	.	.	.	4.05	-4.46	0.03536	.	0.373633	0.26103	N	0.026333	T	0.56016	0.1957	L	0.45051	1.395	0.37305	D	0.908861	P;P	0.50528	0.936;0.89	P;P	0.54210	0.744;0.745	T	0.61888	-0.6970	9	0.46703	T	0.11	-18.7144	14.3017	0.66357	0.0:0.6409:0.0:0.3591	.	180;149	E9PDA5;Q70IA6	.;MOB2_HUMAN	T	180	.	ENSP00000328694:R180T	R	-	2	0	AC091196.1	1448246	0.866000	0.29940	0.949000	0.38748	0.150000	0.21749	0.001000	0.13038	-0.832000	0.04251	-0.379000	0.06801	AGA		0.587	MOB2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000384770.1	NM_053005		27	54	0	0	0	0	27	54				
OR52E2	119678	broad.mit.edu	37	11	5080588	5080588	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr11:5080588G>T	ENST00000321522.2	-	1	269	c.270C>A	c.(268-270)aaC>aaA	p.N90K		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	90						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N90K(1)|p.N90_L91>KI(1)		endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		TCCCTCTGAGGTTGATCCAGA	0.483																																						uc010qyw.1		NA																	2	Substitution - Missense(1)|Complex - compound substitution(1)		lung(2)	ovary(2)|skin(1)	3						c.(268-270)AAC>AAA		olfactory receptor, family 52, subfamily E,							85.0	79.0	81.0					11																	5080588		2201	4298	6499	SO:0001583	missense	119678				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5080588G>T	AB065800	CCDS31371.1	11p15.4	2012-08-09			ENSG00000176787	ENSG00000176787		"""GPCR / Class A : Olfactory receptors"""	14769	protein-coding gene	gene with protein product							Standard	NM_001005164		Approved		uc010qyw.2	Q8NGJ4	OTTHUMG00000066608	ENST00000321522.2:c.270C>A	11.37:g.5080588G>T	ENSP00000322088:p.Asn90Lys						p.N90K	NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)	1	270	-		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	90			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000321522.2	37	c.270C>A	CCDS31371.1	.	.	.	.	.	.	.	.	.	.	G	0.590	-0.833289	0.02713	.	.	ENSG00000176787	ENST00000321522	T	0.02944	4.1	3.77	-5.65	0.02459	GPCR, rhodopsin-like superfamily (1);	1.075640	0.07129	N	0.845210	T	0.01870	0.0059	L	0.28458	0.855	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.47724	-0.9095	10	0.33940	T	0.23	.	0.9694	0.01413	0.3528:0.1131:0.3069:0.2272	.	90	Q8NGJ4	O52E2_HUMAN	K	90	ENSP00000322088:N90K	ENSP00000322088:N90K	N	-	3	2	OR52E2	5037164	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.971000	0.01503	-1.147000	0.02851	-0.127000	0.14921	AAC		0.483	OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142815.1	NM_001005164		15	25	1	0	2.32e-05	2.62e-05	15	25				
SLC5A12	159963	broad.mit.edu	37	11	26695058	26695058	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr11:26695058T>G	ENST00000396005.3	-	14	1907	c.1598A>C	c.(1597-1599)gAt>gCt	p.D533A		NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	533					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TGGTTGAATATCCTCACCTCT	0.373																																						uc001mra.2		NA																	0				ovary(1)|skin(1)	2						c.(1597-1599)GAT>GCT		solute carrier family 5 (sodium/glucose							111.0	109.0	110.0					11																	26695058		1947	4142	6089	SO:0001583	missense	159963				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr11:26695058T>G	BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"""Solute carriers"""	28750	protein-coding gene	gene with protein product		612455	"""solute carrier family 5 (sodium/glucose cotransporter), member 12"""			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.1598A>C	11.37:g.26695058T>G	ENSP00000379326:p.Asp533Ala					SLC5A12_uc001mrb.2_RNA	p.D533A	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN			14	1911	-			533			Cytoplasmic (Potential).		Q86UC7	Missense_Mutation	SNP	ENST00000396005.3	37	c.1598A>C	CCDS7860.2	.	.	.	.	.	.	.	.	.	.	T	8.552	0.875707	0.17395	.	.	ENSG00000148942	ENST00000396005	D	0.85171	-1.95	5.62	4.46	0.54185	.	0.421947	0.19656	U	0.109091	T	0.76300	0.3968	L	0.39397	1.21	0.32027	N	0.599996	B	0.06786	0.001	B	0.06405	0.002	T	0.67787	-0.5580	10	0.09084	T	0.74	.	10.7857	0.46403	0.0:0.0:0.1592:0.8408	.	533	Q1EHB4	SC5AC_HUMAN	A	533	ENSP00000379326:D533A	ENSP00000379326:D533A	D	-	2	0	SLC5A12	26651634	0.740000	0.28207	0.021000	0.16686	0.785000	0.44390	3.356000	0.52269	1.036000	0.39998	0.477000	0.44152	GAT		0.373	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498		13	103	0	0	0	0	13	103				
EXT2	2132	broad.mit.edu	37	11	44228424	44228424	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr11:44228424A>G	ENST00000343631.3	+	10	1706	c.1577A>G	c.(1576-1578)tAt>tGt	p.Y526C	EXT2_ENST00000533608.1_Missense_Mutation_p.Y526C|EXT2_ENST00000395673.3_Missense_Mutation_p.Y559C|EXT2_ENST00000358681.4_Missense_Mutation_p.Y536C			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	526					carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|cellular polysaccharide biosynthetic process (GO:0033692)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm formation (GO:0001707)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						TTCTTCCCTTATGATGAAATC	0.413			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses																													uc001mxz.2		NA	yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	Mis|N|F|S	multiple exostoses type 2 gene			M		exostoses|osteosarcoma			0				lung(2)|breast(2)|skin(1)	5						c.(1576-1578)TAT>TGT		exostosin 2 isoform 2							150.0	145.0	147.0					11																	44228424		2203	4299	6502	SO:0001583	missense	2132	Hereditary_Multiple_Exostoses	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	g.chr11:44228424A>G		CCDS7908.1, CCDS53618.1, CCDS53619.1	11p12-p11	2014-09-17	2013-03-01		ENSG00000151348	ENSG00000151348	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3513	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608210	"""exostoses (multiple) 2"", ""exostosin 2"""			8162019, 9576285	Standard	NM_000401		Approved	SOTV	uc001mya.3	Q93063	OTTHUMG00000166498	ENST00000343631.3:c.1577A>G	11.37:g.44228424A>G	ENSP00000342656:p.Tyr526Cys					EXT2_uc010rfo.1_Missense_Mutation_p.Y554C|EXT2_uc001mxy.2_Missense_Mutation_p.Y539C|EXT2_uc009ykt.2_Missense_Mutation_p.Y536C|EXT2_uc001mya.2_Missense_Mutation_p.Y559C	p.Y526C	NM_207122	NP_997005	Q93063	EXT2_HUMAN			10	1911	+			526			Lumenal (Potential).		B2R5Z6|C9JU51|J3KPT2|O15288	Missense_Mutation	SNP	ENST00000343631.3	37	c.1577A>G	CCDS7908.1	.	.	.	.	.	.	.	.	.	.	A	13.97	2.397153	0.42512	.	.	ENSG00000151348	ENST00000533608;ENST00000358681;ENST00000395673;ENST00000343631	T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05	5.91	5.91	0.95273	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.061993	0.64402	D	0.000003	D	0.89255	0.6663	M	0.84948	2.725	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.76575	0.947;0.988;0.98;0.984;0.984	D	0.90842	0.4724	10	0.87932	D	0	-1.2422	16.3483	0.83171	1.0:0.0:0.0:0.0	.	526;536;536;526;539	Q6NUL1;C9JU51;Q93063-2;Q93063;D3DR24	.;.;.;EXT2_HUMAN;.	C	526;536;559;526	ENSP00000431173:Y526C;ENSP00000351509:Y536C;ENSP00000379032:Y559C;ENSP00000342656:Y526C	ENSP00000342656:Y526C	Y	+	2	0	EXT2	44185000	1.000000	0.71417	0.086000	0.20670	0.122000	0.20287	7.087000	0.76893	2.254000	0.74563	0.533000	0.62120	TAT		0.413	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390074.1	NM_000401		28	52	0	0	0	0	28	52				
CHST1	8534	broad.mit.edu	37	11	45672189	45672189	+	Silent	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr11:45672189G>A	ENST00000308064.2	-	4	955	c.285C>T	c.(283-285)caC>caT	p.H95H	RP11-495O11.1_ENST00000525563.1_RNA|CHST1_ENST00000533673.1_5'Flank	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	95					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	keratan sulfotransferase activity (GO:0045130)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		TGTTCTGGACGTGGTAGAGGG	0.657																																						uc001mys.1		NA																	0				skin(4)|pancreas(1)	5						c.(283-285)CAC>CAT		carbohydrate (keratan sulfate Gal-6)							61.0	65.0	63.0					11																	45672189		2203	4299	6502	SO:0001819	synonymous_variant	8534				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity	g.chr11:45672189G>A	U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264		"""Sulfotransferases, membrane-bound"""	1969	protein-coding gene	gene with protein product		603797				9405439, 9639683	Standard	NM_003654		Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.285C>T	11.37:g.45672189G>A							p.H95H	NM_003654	NP_003645	O43916	CHST1_HUMAN		GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)	4	956	-			95			Lumenal (Potential).		D3DQP2	Silent	SNP	ENST00000308064.2	37	c.285C>T	CCDS7913.1																																																																																				0.657	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390127.1	NM_003654		30	72	0	0	0	0	30	72				
CREB3L1	90993	broad.mit.edu	37	11	46332681	46332681	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr11:46332681A>G	ENST00000529193.1	+	5	1145	c.694A>G	c.(694-696)Agg>Ggg	p.R232G	CREB3L1_ENST00000288400.3_Missense_Mutation_p.R232G			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	232					regulation of bone mineralization (GO:0030500)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|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)		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		CAGCCCTGTCAGGCCCATGGC	0.667			T	FUS	myxofibrosarcoma																																Pancreas(3;159 194 19597 26278 47995)	uc001ncf.2		NA		Dom	yes		11	11p11.2	90993	T	cAMP responsive element binding protein 3-like 1			M	FUS		myxofibrosarcoma	FUS/CREB3L1(6)	0				soft_tissue(6)|ovary(2)	8						c.(694-696)AGG>GGG		cAMP responsive element binding protein 3-like							25.0	30.0	29.0					11																	46332681		1971	4141	6112	SO:0001583	missense	90993				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:46332681A>G		CCDS53620.1	11q11	2013-01-10				ENSG00000157613		"""basic leucine zipper proteins"""	18856	protein-coding gene	gene with protein product	"""BBF-2 homolog (drosophila)"""						Standard	NM_052854		Approved	OASIS	uc021qil.1	Q96BA8		ENST00000529193.1:c.694A>G	11.37:g.46332681A>G	ENSP00000434939:p.Arg232Gly						p.R232G	NM_052854	NP_443086	Q96BA8	CR3L1_HUMAN		GBM - Glioblastoma multiforme(35;0.0285)	5	1129	+			232			Cytoplasmic (Potential).		Q8N2D5|Q96CP0	Missense_Mutation	SNP	ENST00000529193.1	37	c.694A>G	CCDS53620.1	.	.	.	.	.	.	.	.	.	.	A	16.12	3.034141	0.54896	.	.	ENSG00000157613	ENST00000529193;ENST00000288400;ENST00000446415	T;T	0.76186	-1.0;-1.0	5.22	4.3	0.51218	.	0.159274	0.42682	D	0.000674	T	0.67590	0.2909	L	0.58101	1.795	0.43766	D	0.996281	P	0.38020	0.615	B	0.32211	0.142	T	0.65413	-0.6174	10	0.23891	T	0.37	-35.346	15.1848	0.72993	0.1439:0.8561:0.0:0.0	.	232	Q96BA8	CR3L1_HUMAN	G	232;232;144	ENSP00000434939:R232G;ENSP00000288400:R232G	ENSP00000288400:R232G	R	+	1	2	CREB3L1	46289257	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	3.485000	0.53208	1.201000	0.43203	-0.173000	0.13275	AGG		0.667	CREB3L1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389702.1	NM_052854		3	70	0	0	0	0	3	70				
MADD	8567	broad.mit.edu	37	11	47306595	47306595	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr11:47306595G>A	ENST00000311027.5	+	13	2426	c.2261G>A	c.(2260-2262)cGt>cAt	p.R754H	MADD_ENST00000402192.2_Missense_Mutation_p.R754H|MADD_ENST00000342922.4_Missense_Mutation_p.R754H|MADD_ENST00000407859.3_Missense_Mutation_p.R754H|MADD_ENST00000349238.3_Missense_Mutation_p.R754H|MADD_ENST00000406482.1_Missense_Mutation_p.R754H|MADD_ENST00000402799.1_Missense_Mutation_p.R754H|MADD_ENST00000395344.3_Missense_Mutation_p.R754H|MADD_ENST00000395336.3_Missense_Mutation_p.R754H	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		GTGGACAGACGTCAGGCAGAA	0.557																																						uc001ner.1		NA																	0				ovary(5)|skin(4)|central_nervous_system(2)	11						c.(2260-2262)CGT>CAT		MAP-kinase activating death domain-containing							94.0	90.0	91.0					11																	47306595		2201	4298	6499	SO:0001583	missense	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47306595G>A	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.2261G>A	11.37:g.47306595G>A	ENSP00000310933:p.Arg754His					MADD_uc001neq.2_Missense_Mutation_p.R754H|MADD_uc001nev.1_Missense_Mutation_p.R754H|MADD_uc001nes.1_Missense_Mutation_p.R754H|MADD_uc001net.1_Missense_Mutation_p.R754H|MADD_uc009yln.1_Missense_Mutation_p.R754H|MADD_uc001neu.1_Missense_Mutation_p.R754H|MADD_uc001nex.2_Missense_Mutation_p.R754H|MADD_uc001nez.2_Missense_Mutation_p.R754H|MADD_uc001new.2_Missense_Mutation_p.R754H	p.R754H	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	13	2452	+			754						Missense_Mutation	SNP	ENST00000311027.5	37	c.2261G>A	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.675050	0.47781	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192	T;T;T;T;T;T;T;T;T	0.06294	3.39;3.32;3.32;3.42;3.42;3.34;3.32;3.42;3.39	5.88	-2.01	0.07410	.	0.378221	0.29956	N	0.010772	T	0.09730	0.0239	L	0.54323	1.7	0.58432	D	0.999999	D;P;B;P;P;D;B;B;B;B	0.76494	0.998;0.757;0.001;0.843;0.922;0.999;0.003;0.001;0.003;0.003	P;B;B;P;P;P;B;B;B;B	0.60068	0.742;0.21;0.003;0.57;0.522;0.868;0.003;0.002;0.001;0.003	T	0.41734	-0.9492	10	0.22706	T	0.39	5.0231	2.4689	0.04560	0.2373:0.2074:0.4484:0.107	.	754;754;754;754;754;754;754;754;754;754	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	H	754	ENSP00000343902:R754H;ENSP00000385585:R754H;ENSP00000384435:R754H;ENSP00000304505:R754H;ENSP00000310933:R754H;ENSP00000384204:R754H;ENSP00000378753:R754H;ENSP00000378745:R754H;ENSP00000384287:R754H	ENSP00000310933:R754H	R	+	2	0	MADD	47263171	0.857000	0.29778	0.058000	0.19502	0.962000	0.63368	0.978000	0.29488	-0.686000	0.05170	0.655000	0.94253	CGT		0.557	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			6	90	0	0	0	0	6	90				
CLP1	10978	broad.mit.edu	37	11	57428484	57428484	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr11:57428484T>C	ENST00000302731.4	+	3	782	c.662T>C	c.(661-663)gTg>gCg	p.V221A	CLP1_ENST00000529430.1_Missense_Mutation_p.V296A|CLP1_ENST00000525602.1_Missense_Mutation_p.V285A|CLP1_ENST00000533682.1_Missense_Mutation_p.V285A	NM_001142597.1|NM_006831.2	NP_001136069.1|NP_006822.1	Q5KU26	COL12_HUMAN	cleavage and polyadenylation factor I subunit 1	0					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1)	15						TCTGGGGGTGTGGTGGAGCGC	0.512																																						uc001nkw.2		NA																	0				ovary(1)	1						c.(853-855)GTG>GCG		ATP/GTP-binding protein isoform 1							133.0	133.0	133.0					11																	57428484		2201	4296	6497	SO:0001583	missense	10978				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription|tRNA splicing, via endonucleolytic cleavage and ligation	nucleoplasm|tRNA-intron endonuclease complex	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity	g.chr11:57428484T>C	BC000446	CCDS7964.1, CCDS44600.1	11q12.1	2012-10-02	2012-10-02		ENSG00000172409	ENSG00000172409	2.7.1.78		16999	protein-coding gene	gene with protein product	"""ATP/GTPbinding protein"", ""polyribonucleotide 5'-hydroxyl-kinase"""	608757	"""CLP1, cleavage and polyadenylation factor I subunit, homolog (S. cerevisiae)"""			8896421, 11060040	Standard	NM_006831		Approved	HEAB, hClp1	uc001nkw.3	Q92989	OTTHUMG00000167146	ENST00000302731.4:c.662T>C	11.37:g.57428484T>C	ENSP00000304704:p.Val221Ala					CLP1_uc010rjw.1_Missense_Mutation_p.V221A|CLP1_uc009yml.2_Missense_Mutation_p.V285A	p.V285A	NM_006831	NP_006822	Q92989	CLP1_HUMAN			3	993	+			285					Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000302731.4	37	c.854T>C	CCDS44600.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.322656	0.81580	.	.	ENSG00000172409	ENST00000529430;ENST00000533682;ENST00000525602;ENST00000302731	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.9	5.9	0.94986	Pre-mRNA cleavage complex II Clp1 (1);	0.054276	0.64402	D	0.000001	T	0.46795	0.1411	L	0.50847	1.595	0.80722	D	1	P;B	0.42296	0.775;0.039	P;B	0.45449	0.481;0.107	T	0.41324	-0.9515	10	0.34782	T	0.22	-25.4451	10.3617	0.43998	0.0:0.0735:0.0:0.9265	.	221;285	Q92989-2;Q92989	.;CLP1_HUMAN	A	296;285;285;221	ENSP00000433406:V296A;ENSP00000434995:V285A;ENSP00000436066:V285A;ENSP00000304704:V221A	ENSP00000304704:V221A	V	+	2	0	CLP1	57185060	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.155000	0.71833	2.266000	0.75297	0.528000	0.53228	GTG		0.512	CLP1-003	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000393465.1	NM_006831		3	144	0	0	0	0	3	144				
MPEG1	219972	broad.mit.edu	37	11	58979531	58979531	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr11:58979531G>A	ENST00000361050.3	-	1	893	c.808C>T	c.(808-810)Cga>Tga	p.R270*	RN7SL42P_ENST00000579786.1_RNA	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	270	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.					integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GAGTTGGTTCGGTTTGAGAGG	0.532																																						uc001nnu.3		NA																	0				ovary(1)|skin(1)	2						c.(808-810)CGA>TGA		macrophage expressed gene 1 precursor							33.0	31.0	32.0					11																	58979531		1884	4100	5984	SO:0001587	stop_gained	219972					integral to membrane		g.chr11:58979531G>A	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"""macrophage expressed gene 1"""	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.808C>T	11.37:g.58979531G>A	ENSP00000354335:p.Arg270*						p.R270*	NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN			1	964	-		all_epithelial(135;0.125)	270			MACPF.|Extracellular (Potential).		Q2M1T6|Q8TEF8	Nonsense_Mutation	SNP	ENST00000361050.3	37	c.808C>T	CCDS41650.1	.	.	.	.	.	.	.	.	.	.	G	32	5.177423	0.94846	.	.	ENSG00000197629	ENST00000361050	.	.	.	5.38	2.21	0.28008	.	0.080599	0.50627	D	0.000113	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-7.8646	11.8556	0.52435	0.0:0.0:0.5287:0.4712	.	.	.	.	X	270	.	ENSP00000354335:R270X	R	-	1	2	MPEG1	58736107	1.000000	0.71417	0.977000	0.42913	0.983000	0.72400	1.002000	0.29796	0.609000	0.30018	-0.158000	0.13435	CGA		0.532	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		4	16	0	0	0	0	4	16				
AHNAK	79026	broad.mit.edu	37	11	62293536	62293536	+	Missense_Mutation	SNP	C	C	A	rs182198867		TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr11:62293536C>A	ENST00000378024.4	-	5	8627	c.8353G>T	c.(8353-8355)Gat>Tat	p.D2785Y	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2785					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ACGTCCACATCTGGACCTTCT	0.498																																						uc001ntl.2		NA																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(8353-8355)GAT>TAT		AHNAK nucleoprotein isoform 1							209.0	206.0	207.0					11																	62293536		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62293536C>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.8353G>T	11.37:g.62293536C>A	ENSP00000367263:p.Asp2785Tyr					AHNAK_uc001ntk.1_Intron	p.D2785Y	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	8653	-		Melanoma(852;0.155)	2785					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.8353G>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	11.30	1.597208	0.28445	.	.	ENSG00000124942	ENST00000378024	T	0.01705	4.68	3.91	2.97	0.34412	.	.	.	.	.	T	0.06050	0.0157	M	0.85945	2.785	0.36224	D	0.852155	P	0.47191	0.891	P	0.47528	0.549	T	0.17961	-1.0352	9	0.72032	D	0.01	.	11.7075	0.51605	0.0:0.9084:0.0:0.0915	.	2785	Q09666	AHNK_HUMAN	Y	2785	ENSP00000367263:D2785Y	ENSP00000367263:D2785Y	D	-	1	0	AHNAK	62050112	0.996000	0.38824	0.156000	0.22583	0.026000	0.11368	2.577000	0.46042	0.709000	0.31976	0.298000	0.19748	GAT		0.498	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		66	135	1	0	1.32e-23	1.82e-23	66	135				
MTL5	9633	broad.mit.edu	37	11	68506204	68506204	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr11:68506204G>C	ENST00000255087.5	-	6	1064	c.881C>G	c.(880-882)tCa>tGa	p.S294*	MTL5_ENST00000443940.2_3'UTR|MTL5_ENST00000540869.1_5'UTR|MTL5_ENST00000544963.1_Nonsense_Mutation_p.S294*	NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	294	CRC. {ECO:0000255|PROSITE- ProRule:PRU00971}.				cell differentiation (GO:0030154)|cellular metal ion homeostasis (GO:0006875)|multicellular organismal development (GO:0007275)|response to metal ion (GO:0010038)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			TGGAAGAGTTGATCCCGAGGG	0.408																																						uc001ooc.2		NA																	0				ovary(2)|breast(1)	3						c.(880-882)TCA>TGA		metallothionein-like 5, testis-specific isoform							107.0	100.0	103.0					11																	68506204		2200	4294	6494	SO:0001587	stop_gained	9633				cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding	g.chr11:68506204G>C	U86074	CCDS8184.1, CCDS44661.1	11q13.2-q13.3	2007-01-03			ENSG00000132749	ENSG00000132749			7446	protein-coding gene	gene with protein product	"""CXC domain containing 2"""	604374				1091092	Standard	XR_428932		Approved	CXCDC2	uc001ooc.3	Q9Y4I5	OTTHUMG00000167891	ENST00000255087.5:c.881C>G	11.37:g.68506204G>C	ENSP00000255087:p.Ser294*					MTL5_uc001ood.1_Nonsense_Mutation_p.S294*|MTL5_uc009ysi.1_3'UTR	p.S294*	NM_004923	NP_004914	Q9Y4I5	MTL5_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)		6	1021	-	Esophageal squamous(3;4.37e-12)		294					A8K8J3|Q4G182|Q6P2E2|Q8NCC8	Nonsense_Mutation	SNP	ENST00000255087.5	37	c.881C>G	CCDS8184.1	.	.	.	.	.	.	.	.	.	.	G	36	5.648933	0.96714	.	.	ENSG00000132749	ENST00000255087;ENST00000544963	.	.	.	5.16	5.16	0.70880	.	0.555807	0.15154	N	0.277527	.	.	.	.	.	.	0.36987	D	0.894604	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-1.7285	15.5588	0.76223	0.0:0.0:1.0:0.0	.	.	.	.	X	294	.	ENSP00000255087:S294X	S	-	2	0	MTL5	68262780	0.667000	0.27484	0.034000	0.17996	0.886000	0.51366	3.405000	0.52630	2.433000	0.82419	0.561000	0.74099	TCA		0.408	MTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396844.1	NM_004923		93	174	0	0	0	0	93	174				
MTL5	9633	broad.mit.edu	37	11	68506237	68506237	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr11:68506237G>A	ENST00000255087.5	-	6	1031	c.848C>T	c.(847-849)tCg>tTg	p.S283L	MTL5_ENST00000443940.2_3'UTR|MTL5_ENST00000540869.1_5'UTR|MTL5_ENST00000544963.1_Missense_Mutation_p.S283L	NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	283					cell differentiation (GO:0030154)|cellular metal ion homeostasis (GO:0006875)|multicellular organismal development (GO:0007275)|response to metal ion (GO:0010038)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			GTTGACTACCGATGGTAAGGC	0.438																																						uc001ooc.2		NA																	0				ovary(2)|breast(1)	3						c.(847-849)TCG>TTG		metallothionein-like 5, testis-specific isoform							89.0	84.0	86.0					11																	68506237		2200	4294	6494	SO:0001583	missense	9633				cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding	g.chr11:68506237G>A	U86074	CCDS8184.1, CCDS44661.1	11q13.2-q13.3	2007-01-03			ENSG00000132749	ENSG00000132749			7446	protein-coding gene	gene with protein product	"""CXC domain containing 2"""	604374				1091092	Standard	XR_428932		Approved	CXCDC2	uc001ooc.3	Q9Y4I5	OTTHUMG00000167891	ENST00000255087.5:c.848C>T	11.37:g.68506237G>A	ENSP00000255087:p.Ser283Leu					MTL5_uc001ood.1_Missense_Mutation_p.S283L|MTL5_uc009ysi.1_3'UTR	p.S283L	NM_004923	NP_004914	Q9Y4I5	MTL5_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)		6	988	-	Esophageal squamous(3;4.37e-12)		283					A8K8J3|Q4G182|Q6P2E2|Q8NCC8	Missense_Mutation	SNP	ENST00000255087.5	37	c.848C>T	CCDS8184.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.532645	0.64972	.	.	ENSG00000132749	ENST00000255087;ENST00000544963	T;T	0.38722	1.31;1.12	5.16	5.16	0.70880	.	0.892439	0.09407	N	0.806395	T	0.31482	0.0798	L	0.32530	0.975	0.09310	N	1	P	0.37997	0.614	B	0.22753	0.041	T	0.22487	-1.0215	10	0.54805	T	0.06	-1.4198	14.1421	0.65327	0.0:0.0:1.0:0.0	.	283	Q9Y4I5	MTL5_HUMAN	L	283	ENSP00000255087:S283L;ENSP00000440968:S283L	ENSP00000255087:S283L	S	-	2	0	MTL5	68262813	0.124000	0.22315	0.004000	0.12327	0.752000	0.42762	3.551000	0.53698	2.433000	0.82419	0.561000	0.74099	TCG		0.438	MTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396844.1	NM_004923		78	157	0	0	0	0	78	157				
MYEOV	26579	broad.mit.edu	37	11	69063820	69063820	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr11:69063820C>A	ENST00000308946.3	+	3	1353	c.903C>A	c.(901-903)caC>caA	p.H301Q	MYEOV_ENST00000441339.2_Missense_Mutation_p.H301Q|MYEOV_ENST00000535407.1_Missense_Mutation_p.H243Q	NM_138768.2	NP_620123.2	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	301										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		tcctccaccacctcctcctcc	0.587																																						uc001oov.2		NA																	0					0						c.(901-903)CAC>CAA		myeloma overexpressed							40.0	36.0	37.0					11																	69063820		2197	4289	6486	SO:0001583	missense	26579							g.chr11:69063820C>A	AJ223366	CCDS8190.1, CCDS73340.1	11q13.2	2013-03-27	2013-03-27			ENSG00000172927			7563	protein-coding gene	gene with protein product		605625	"""myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas)"""			10753852	Standard	XM_005273908		Approved	OCIM	uc001oov.3	Q96EZ4		ENST00000308946.3:c.903C>A	11.37:g.69063820C>A	ENSP00000308330:p.His301Gln					MYEOV_uc001oox.2_Intron|MYEOV_uc009ysl.2_Missense_Mutation_p.H301Q|MYEOV_uc001oow.2_Missense_Mutation_p.H243Q	p.H301Q	NM_138768	NP_620123	Q96EZ4	MYEOV_HUMAN	LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)	3	1353	+	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		301					Q9UGN6|Q9UGN7	Missense_Mutation	SNP	ENST00000308946.3	37	c.903C>A	CCDS8190.1	.	.	.	.	.	.	.	.	.	.	C	1.835	-0.468766	0.04445	.	.	ENSG00000172927	ENST00000441339;ENST00000308946;ENST00000535407	T;T;T	0.22539	1.96;1.96;1.95	1.23	-0.892	0.10570	.	.	.	.	.	T	0.08758	0.0217	N	0.08118	0	0.09310	N	1	B	0.25272	0.122	B	0.15052	0.012	T	0.26677	-1.0096	9	0.87932	D	0	.	3.9528	0.09377	0.0:0.5176:0.0:0.4824	.	301	Q96EZ4	MYEOV_HUMAN	Q	301;301;243	ENSP00000412482:H301Q;ENSP00000308330:H301Q;ENSP00000438100:H243Q	ENSP00000308330:H301Q	H	+	3	2	MYEOV	68820396	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.823000	0.04443	-0.287000	0.09064	-0.339000	0.08088	CAC		0.587	MYEOV-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396548.1			19	8	1	0	0.00074312	0.000812307	19	8				
TRIM49	57093	broad.mit.edu	37	11	89537595	89537595	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr11:89537595A>G	ENST00000329758.1	-	3	371	c.43T>C	c.(43-45)Tgc>Cgc	p.C15R	TRIM49_ENST00000532501.2_Missense_Mutation_p.C15R	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	15						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CACAGGGGGCAGATGAGTTCC	0.473																																						uc001pdb.2		NA																	0					0						c.(43-45)TGC>CGC		ring finger protein 18							17.0	17.0	17.0					11																	89537595		2174	4267	6441	SO:0001583	missense	57093					intracellular	zinc ion binding	g.chr11:89537595A>G	AB037682	CCDS8287.1	11p11.12-q12	2012-05-21	2011-01-25	2004-11-17	ENSG00000168930	ENSG00000168930		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	13431	protein-coding gene	gene with protein product		606124	"""ring finger protein 18"", ""tripartite motif-containing 49"""	RNF18		11018261	Standard	NM_020358		Approved	TRIM49A	uc001pdb.3	P0CI25		ENST00000329758.1:c.43T>C	11.37:g.89537595A>G	ENSP00000327604:p.Cys15Arg						p.C15R	NM_020358	NP_065091	P0CI25	TRI49_HUMAN			3	372	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	15			RING-type.		A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Missense_Mutation	SNP	ENST00000329758.1	37	c.43T>C	CCDS8287.1	.	.	.	.	.	.	.	.	.	.	A	10.17	1.276055	0.23307	.	.	ENSG00000168930	ENST00000329758;ENST00000532501	T	0.54866	0.55	0.821	0.821	0.18799	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	.	.	.	.	T	0.78052	0.4223	H	0.98199	4.17	0.09310	N	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.63042	-0.6725	8	.	.	.	.	3.9394	0.09319	1.0:0.0:0.0:0.0	.	15	P0CI25	TRI49_HUMAN	R	15	ENSP00000327604:C15R	.	C	-	1	0	TRIM49	89177243	0.688000	0.27680	0.002000	0.10522	0.019000	0.09904	4.146000	0.58072	0.629000	0.30376	0.163000	0.16589	TGC		0.473	TRIM49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395435.1	NM_020358		12	31	0	0	0	0	12	31				
Unknown	0	broad.mit.edu	37	11	89819398	89819398	+	IGR	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr11:89819398G>T								TRIM49C (12840 upstream) : SNORD56 (32160 downstream)																							CAAAAATACAGGAACGGTCCA	0.423																																						uc010rub.1		NA																	0					0						c.(280-282)AGG>ATG		upstream binding transcription factor, RNA							120.0	88.0	98.0					11																	89819398		686	1564	2250	SO:0001628	intergenic_variant	642623				multicellular organismal development	cytoplasm|nucleus	DNA binding	g.chr11:89819398G>T																													11.37:g.89819398G>T							p.R94M	NM_001143975	NP_001137447	P0CB47	UBFL1_HUMAN			1	281	+			94						Missense_Mutation	SNP		37	c.281G>T																																																																																				0	0.423									10	9	1	0	4.69e-08	5.75e-08	10	9				
FAT3	120114	broad.mit.edu	37	11	92088310	92088310	+	Missense_Mutation	SNP	G	G	T	rs181670458		TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr11:92088310G>T	ENST00000298047.6	+	1	3049	c.3032G>T	c.(3031-3033)cGg>cTg	p.R1011L	FAT3_ENST00000525166.1_Missense_Mutation_p.R861L|FAT3_ENST00000409404.2_Missense_Mutation_p.R1011L|FAT3_ENST00000541502.1_Missense_Mutation_p.R1011L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1011	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTTACTGTGCGGGCCAAAGAC	0.453										TCGA Ovarian(4;0.039)																												uc001pdj.3		NA																	0				ovary(4)|pancreas(1)	5						c.(3031-3033)CGG>CTG		FAT tumor suppressor homolog 3							83.0	83.0	83.0					11																	92088310		1937	4142	6079	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92088310G>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.3032G>T	11.37:g.92088310G>T	ENSP00000298047:p.Arg1011Leu	TCGA Ovarian(4;0.039)					p.R1011L	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			1	3049	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1011			Cadherin 9.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.3032G>T		.	.	.	.	.	.	.	.	.	.	G	13.28	2.190211	0.38707	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.19105	4.7;4.7;2.17;4.7	5.82	5.82	0.92795	.	.	.	.	.	T	0.19644	0.0472	L	0.33753	1.03	0.41753	D	0.989677	B	0.19583	0.037	B	0.15484	0.013	T	0.03221	-1.1059	9	0.27785	T	0.31	.	19.0835	0.93192	0.0:0.0:1.0:0.0	.	1011	Q8TDW7-3	.	L	1011;1011;1011;861	ENSP00000298047:R1011L;ENSP00000387040:R1011L;ENSP00000443786:R1011L;ENSP00000432586:R861L	ENSP00000298047:R1011L	R	+	2	0	FAT3	91727958	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.334000	0.65923	2.767000	0.95098	0.655000	0.94253	CGG		0.453	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		12	24	1	0	5.51e-06	6.36e-06	12	24				
FAT3	120114	broad.mit.edu	37	11	92523307	92523307	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr11:92523307G>T	ENST00000298047.6	+	7	4551	c.4534G>T	c.(4534-4536)Gac>Tac	p.D1512Y	FAT3_ENST00000525166.1_Missense_Mutation_p.D1362Y|FAT3_ENST00000409404.2_Missense_Mutation_p.D1512Y			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1512	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATTCCGGATTGACCCTAGCAC	0.488										TCGA Ovarian(4;0.039)																												uc001pdj.3		NA																	0				ovary(4)|pancreas(1)	5						c.(4534-4536)GAC>TAC		FAT tumor suppressor homolog 3							173.0	168.0	169.0					11																	92523307		2062	4214	6276	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92523307G>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.4534G>T	11.37:g.92523307G>T	ENSP00000298047:p.Asp1512Tyr	TCGA Ovarian(4;0.039)					p.D1512Y	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			7	4551	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1512			Cadherin 14.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.4534G>T		.	.	.	.	.	.	.	.	.	.	G	24.0	4.486864	0.84854	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.48522	0.81;0.81;0.81	6.17	6.17	0.99709	.	.	.	.	.	T	0.80347	0.4606	H	0.98802	4.335	0.80722	D	1	D	0.61080	0.989	P	0.56398	0.797	D	0.87460	0.2407	9	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1512	Q8TDW7-3	.	Y	1512;1512;1362	ENSP00000298047:D1512Y;ENSP00000387040:D1512Y;ENSP00000432586:D1362Y	ENSP00000298047:D1512Y	D	+	1	0	FAT3	92162955	1.000000	0.71417	0.973000	0.42090	0.930000	0.56654	6.350000	0.73017	2.941000	0.99782	0.655000	0.94253	GAC		0.488	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		20	107	1	0	2.38e-13	3.11e-13	20	107				
FAT3	120114	broad.mit.edu	37	11	92573756	92573756	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr11:92573756T>C	ENST00000298047.6	+	17	10414	c.10397T>C	c.(10396-10398)tTg>tCg	p.L3466S	FAT3_ENST00000525166.1_Missense_Mutation_p.L3316S|FAT3_ENST00000409404.2_Missense_Mutation_p.L3466S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3466	Cadherin 32. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACCAGCATCTTGCAGCTGGTG	0.398										TCGA Ovarian(4;0.039)																												uc001pdj.3		NA																	0				ovary(4)|pancreas(1)	5						c.(10396-10398)TTG>TCG		FAT tumor suppressor homolog 3							68.0	66.0	66.0					11																	92573756		1868	4111	5979	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92573756T>C	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.10397T>C	11.37:g.92573756T>C	ENSP00000298047:p.Leu3466Ser	TCGA Ovarian(4;0.039)				FAT3_uc001pdi.3_5'UTR	p.L3466S	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			17	10414	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3466			Cadherin 32.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.10397T>C		.	.	.	.	.	.	.	.	.	.	T	23.1	4.377754	0.82682	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.01629	4.72;4.72;4.72	5.2	5.2	0.72013	.	.	.	.	.	T	0.11410	0.0278	M	0.83312	2.635	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.00353	-1.1795	9	0.87932	D	0	.	15.0995	0.72262	0.0:0.0:0.0:1.0	.	3466	Q8TDW7-3	.	S	3466;3466;3316	ENSP00000298047:L3466S;ENSP00000387040:L3466S;ENSP00000432586:L3316S	ENSP00000298047:L3466S	L	+	2	0	FAT3	92213404	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.975000	0.88055	1.963000	0.57068	0.533000	0.62120	TTG		0.398	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		12	28	0	0	0	0	12	28				
OR6M1	390261	broad.mit.edu	37	11	123676665	123676665	+	Silent	SNP	C	C	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr11:123676665C>A	ENST00000309154.2	-	1	430	c.393G>T	c.(391-393)acG>acT	p.T131T		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	131						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T131T(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		TCATGATGACCGTGTAGTGCA	0.517																																						uc010rzz.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(391-393)ACG>ACT		olfactory receptor, family 6, subfamily M,							46.0	49.0	48.0					11																	123676665		2202	4298	6500	SO:0001819	synonymous_variant	390261				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123676665C>A	AB065762	CCDS31696.1	11q24.1	2012-08-09			ENSG00000196099	ENSG00000196099		"""GPCR / Class A : Olfactory receptors"""	14711	protein-coding gene	gene with protein product							Standard	NM_001005325		Approved		uc010rzz.2	Q8NGM8	OTTHUMG00000166012	ENST00000309154.2:c.393G>T	11.37:g.123676665C>A							p.T131T	NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)	1	393	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	131			Cytoplasmic (Potential).		B2RNK0|Q6IEW9|Q96R37	Silent	SNP	ENST00000309154.2	37	c.393G>T	CCDS31696.1																																																																																				0.517	OR6M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387437.1	NM_001005325		19	20	1	0	1.64e-05	1.87e-05	19	20				
CD163L1	283316	broad.mit.edu	37	12	7556294	7556294	+	Silent	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr12:7556294G>A	ENST00000313599.3	-	6	1302	c.1245C>T	c.(1243-1245)agC>agT	p.S415S	CD163L1_ENST00000416109.2_Silent_p.S425S|CD163L1_ENST00000396630.1_Silent_p.S415S			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	415	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGCCAAAGACGCTGAACGGAC	0.458																																						uc001qsy.2		NA																	0				ovary(8)|skin(2)|central_nervous_system(1)	11						c.(1243-1245)AGC>AGT		scavenger receptor cysteine-rich type 1							186.0	170.0	176.0					12																	7556294		2203	4300	6503	SO:0001819	synonymous_variant	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7556294G>A	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.1245C>T	12.37:g.7556294G>A						CD163L1_uc010sge.1_Silent_p.S425S	p.S415S	NM_174941	NP_777601	Q9NR16	C163B_HUMAN			6	1271	-			415			SRCR 4.|Extracellular (Potential).		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Silent	SNP	ENST00000313599.3	37	c.1245C>T	CCDS8577.1																																																																																				0.458	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		42	128	0	0	0	0	42	128				
PZP	5858	broad.mit.edu	37	12	9317736	9317736	+	Splice_Site	SNP	C	C	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr12:9317736C>A	ENST00000261336.2	-	19	2514	c.2486G>T	c.(2485-2487)cGg>cTg	p.R829L	PZP_ENST00000539983.1_5'UTR|PZP_ENST00000381997.2_Splice_Site_p.R698L	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	829					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TTTCCTTACCCGGATGCATTT	0.463																																					Melanoma(125;1402 1695 4685 34487 38571)	uc001qvl.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						c.(2485-2487)CGG>CTG		pregnancy-zone protein precursor							115.0	110.0	112.0					12																	9317736		2203	4300	6503	SO:0001630	splice_region_variant	5858							g.chr12:9317736C>A	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.2487+1G>T	12.37:g.9317736C>A						PZP_uc009zgl.2_Missense_Mutation_p.R698L|PZP_uc010sgo.1_RNA|PZP_uc009zgm.1_Missense_Mutation_p.R161L	p.R829L	NM_002864	NP_002855					19	2515	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	c.2486G>T	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.305579	0.60305	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.26067	1.76;1.76	3.7	-1.91	0.07641	Alpha-2-macroglobulin (1);	0.106553	0.37955	U	0.001873	T	0.41073	0.1143	M	0.64997	1.995	0.25474	N	0.987796	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.72338	0.977;0.931;0.977	T	0.32134	-0.9918	10	0.72032	D	0.01	.	10.8197	0.46597	0.0:0.3223:0.0:0.6777	.	829;698;829	B2R950;P20742-2;P20742	.;.;PZP_HUMAN	L	829;698	ENSP00000261336:R829L;ENSP00000371427:R698L	ENSP00000261336:R829L	R	-	2	0	PZP	9209003	0.000000	0.05858	0.842000	0.33263	0.944000	0.59088	-0.988000	0.03739	-0.568000	0.06038	0.467000	0.42956	CGG		0.463	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864	Missense_Mutation	17	71	1	0	5.35e-07	6.43e-07	17	71				
PRB3	5544	broad.mit.edu	37	12	11420652	11420652	+	Silent	SNP	C	C	T	rs74786167	byFrequency	TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr12:11420652C>T	ENST00000279573.7	-	3	666	c.531G>A	c.(529-531)ccG>ccA	p.P177P	PRB3_ENST00000538488.1_Silent_p.P156P|PRB3_ENST00000440870.3_Intron|PRB3_ENST00000381842.3_Silent_p.P177P			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	177	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.		Missing (in allele S).		defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			CCGGATGAGGCGGGGGACCTT	0.642																																						uc001qzs.2		NA																	0				skin(1)	1						c.(529-531)CCG>CCA		proline-rich protein BstNI subfamily 3																																				SO:0001819	synonymous_variant	5544					extracellular region	Gram-negative bacterial cell surface binding	g.chr12:11420652C>T			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.531G>A	12.37:g.11420652C>T						PRB4_uc001qzf.1_Intron	p.P177P	NM_006249	NP_006240	Q04118	PRB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.201)		3	569	-			177		Missing (in allele S).	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.|6.		Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	Silent	SNP	ENST00000279573.7	37	c.531G>A																																																																																					0.642	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5	NM_006249		7	186	0	0	0	0	7	186				
PTPRO	5800	broad.mit.edu	37	12	15637161	15637161	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr12:15637161G>T	ENST00000281171.4	+	2	659	c.329G>T	c.(328-330)aGa>aTa	p.R110I	PTPRO_ENST00000348962.2_Missense_Mutation_p.R110I|PTPRO_ENST00000543886.1_Missense_Mutation_p.R110I	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	110	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				AAGCCATCCAGATCAATCACT	0.413																																						uc001rcv.1		NA																	0				skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9						c.(328-330)AGA>ATA		receptor-type protein tyrosine phosphatase O							95.0	95.0	95.0					12																	15637161		2203	4300	6503	SO:0001583	missense	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15637161G>T	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.329G>T	12.37:g.15637161G>T	ENSP00000281171:p.Arg110Ile					PTPRO_uc001rcw.1_Missense_Mutation_p.R110I|PTPRO_uc001rcu.1_Missense_Mutation_p.R110I	p.R110I	NM_030667	NP_109592	Q16827	PTPRO_HUMAN			2	503	+		Hepatocellular(102;0.244)	110			Fibronectin type-III 1.|Extracellular (Potential).		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	c.329G>T	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.917556	0.52546	.	.	ENSG00000151490	ENST00000281171;ENST00000543886;ENST00000348962	T;T	0.05025	3.54;3.51	5.58	4.69	0.59074	Fibronectin, type III (1);	0.000000	0.56097	D	0.000029	T	0.09642	0.0237	N	0.14661	0.345	0.80722	D	1	B;B;D	0.71674	0.11;0.067;0.998	B;B;P	0.61940	0.031;0.014;0.896	T	0.08493	-1.0719	10	0.87932	D	0	.	10.1372	0.42715	0.1479:0.0:0.8521:0.0	.	110;110;110	Q16827-2;Q16827;Q8IYG3	.;PTPRO_HUMAN;.	I	110	ENSP00000281171:R110I;ENSP00000343434:R110I	ENSP00000281171:R110I	R	+	2	0	PTPRO	15528428	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.889000	0.56212	2.630000	0.89119	0.655000	0.94253	AGA		0.413	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			10	38	1	0	7.48e-07	8.95e-07	10	38				
SLCO1B3	28234	broad.mit.edu	37	12	21030851	21030851	+	Silent	SNP	T	T	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr12:21030851T>A	ENST00000381545.3	+	10	1335	c.1116T>A	c.(1114-1116)tcT>tcA	p.S372S	LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Silent_p.S372S|LST3_ENST00000540229.1_Silent_p.S372S|SLCO1B3_ENST00000553473.1_Silent_p.S372S	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	372					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	AGTCTGCATCTCATGCTAACT	0.328																																						uc001rek.2		NA																	0				large_intestine(2)|ovary(1)|skin(1)	4						c.(1114-1116)TCT>TCA		solute carrier organic anion transporter family,							131.0	131.0	131.0					12																	21030851		2202	4300	6502	SO:0001819	synonymous_variant	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21030851T>A		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.1116T>A	12.37:g.21030851T>A						SLCO1B3_uc001rel.2_Silent_p.S372S|SLCO1B3_uc010sil.1_Silent_p.S372S|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Silent_p.S197S	p.S372S	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN			9	1242	+	Esophageal squamous(101;0.149)		372			Extracellular (Potential).		E7EMT8|Q5JAR4	Silent	SNP	ENST00000381545.3	37	c.1116T>A	CCDS8684.1																																																																																				0.328	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		17	53	0	0	0	0	17	53				
LMNTD1	160492	broad.mit.edu	37	12	25672821	25672821	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr12:25672821C>A	ENST00000282881.6	-	6	1073	c.924G>T	c.(922-924)caG>caT	p.Q308H	IFLTD1_ENST00000539744.1_Missense_Mutation_p.Q211H|IFLTD1_ENST00000458174.2_Missense_Mutation_p.Q329H|IFLTD1_ENST00000413632.2_Missense_Mutation_p.Q289H|IFLTD1_ENST00000445693.1_Missense_Mutation_p.Q245H	NM_152590.3	NP_689803.2	Q8N9Z9	LMTD1_HUMAN		308					cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					CTTGTTCCACCTGATAATTTG	0.388																																						uc001rgs.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(922-924)CAG>CAT		intermediate filament tail domain containing 1							206.0	185.0	192.0					12																	25672821		2203	4300	6503	SO:0001583	missense	160492					intermediate filament	structural molecule activity	g.chr12:25672821C>A																												ENST00000282881.6:c.924G>T	12.37:g.25672821C>A	ENSP00000282881:p.Gln308His					IFLTD1_uc001rgt.1_Missense_Mutation_p.Q211H|IFLTD1_uc010sji.1_Missense_Mutation_p.Q329H|IFLTD1_uc010sjj.1_Missense_Mutation_p.Q245H|IFLTD1_uc009zjc.2_Missense_Mutation_p.Q289H	p.Q308H	NM_152590	NP_689803	Q8N9Z9	ILFT1_HUMAN			6	1074	-	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)		308					B4DL27|B4DY70|Q8IY38	Missense_Mutation	SNP	ENST00000282881.6	37	c.924G>T	CCDS8704.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.509|8.509	0.865966|0.865966	0.17250|0.17250	.|.	.|.	ENSG00000152936|ENSG00000152936	ENST00000543629|ENST00000282881;ENST00000539744;ENST00000458174;ENST00000445693;ENST00000413632;ENST00000539523;ENST00000545543	.|T;T;T;T;T;T;T	.|0.25250	.|2.62;2.65;2.61;2.62;2.41;1.81;2.4	4.84|4.84	-0.553|-0.553	0.11815|0.11815	.|.	.|.	.|.	.|.	.|.	T|T	0.12987|0.12987	0.0315|0.0315	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.14805	.|0.004;0.004;0.011;0.002	.|B;B;B;B	.|0.12156	.|0.007;0.007;0.007;0.003	T|T	0.26883|0.26883	-1.0090|-1.0090	5|9	.|0.46703	.|T	.|0.11	-4.2875|-4.2875	2.0343|2.0343	0.03536|0.03536	0.1464:0.4006:0.2856:0.1673|0.1464:0.4006:0.2856:0.1673	.|.	.|245;329;289;308	.|Q8N9Z9-3;Q8N9Z9-5;Q8N9Z9-4;Q8N9Z9	.|.;.;.;ILFT1_HUMAN	C|H	83|308;211;329;245;289;25;138	.|ENSP00000282881:Q308H;ENSP00000443132:Q211H;ENSP00000407353:Q329H;ENSP00000407043:Q245H;ENSP00000393150:Q289H;ENSP00000438160:Q25H;ENSP00000443596:Q138H	.|ENSP00000282881:Q308H	G|Q	-|-	1|3	0|2	IFLTD1|IFLTD1	25564088|25564088	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.023000|0.023000	0.10783|0.10783	-0.604000|-0.604000	0.05667|0.05667	-0.280000|-0.280000	0.09154|0.09154	-0.291000|-0.291000	0.09656|0.09656	GGT|CAG		0.388	IFLTD1-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402279.1			6	32	1	0	1.07e-07	1.3e-07	6	32				
OVCH1	341350	broad.mit.edu	37	12	29597152	29597152	+	Silent	SNP	A	A	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr12:29597152A>G	ENST00000318184.5	-	24	2942	c.2943T>C	c.(2941-2943)ccT>ccC	p.P981P	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	981						extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CATCCTCACAAGGGACCAAGT	0.403																																						uc001rix.1		NA																	0				ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10						c.(2941-2943)CCT>CCC		ovochymase 1 precursor							149.0	149.0	149.0					12																	29597152		1834	4093	5927	SO:0001819	synonymous_variant	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29597152A>G	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.2943T>C	12.37:g.29597152A>G							p.P981P	NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN			24	2943	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		981						Silent	SNP	ENST00000318184.5	37	c.2943T>C																																																																																					0.403	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		3	178	0	0	0	0	3	178				
CNTN1	1272	broad.mit.edu	37	12	41312540	41312540	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr12:41312540G>T	ENST00000551295.2	+	4	311	c.194G>T	c.(193-195)tGt>tTt	p.C65F	CNTN1_ENST00000360099.3_Missense_Mutation_p.C65F|CNTN1_ENST00000547702.1_Missense_Mutation_p.C65F|CNTN1_ENST00000347616.1_Missense_Mutation_p.C65F|CNTN1_ENST00000547849.1_Missense_Mutation_p.C65F|CNTN1_ENST00000348761.2_Missense_Mutation_p.C54F	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	65	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TCACTCAACTGTAGGGCACGA	0.438																																						uc001rmm.1		NA																	0				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9						c.(193-195)TGT>TTT		contactin 1 isoform 1 precursor							92.0	99.0	96.0					12																	41312540		2203	4300	6503	SO:0001583	missense	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41312540G>T	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.194G>T	12.37:g.41312540G>T	ENSP00000447006:p.Cys65Phe					CNTN1_uc009zjy.1_Missense_Mutation_p.C65F|CNTN1_uc001rmn.1_Missense_Mutation_p.C54F|CNTN1_uc001rmo.2_Missense_Mutation_p.C65F	p.C65F	NM_001843	NP_001834	Q12860	CNTN1_HUMAN			4	307	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	65			Ig-like C2-type 1.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	c.194G>T	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.679723	0.88542	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000548005;ENST00000552248;ENST00000547849;ENST00000552913;ENST00000347616;ENST00000360099;ENST00000348761	D;D;T;T;D;D;D;D	0.94537	-3.45;-3.45;-0.35;-0.35;-3.45;-3.45;-3.45;-3.45	5.1	5.1	0.69264	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.98726	0.9572	H	0.99475	4.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.994;1.0;1.0	D	0.99564	1.0969	10	0.87932	D	0	.	18.897	0.92427	0.0:0.0:1.0:0.0	.	65;54;65	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	F	65;65;65;65;65;65;65;65;54	ENSP00000448004:C65F;ENSP00000447006:C65F;ENSP00000447862:C65F;ENSP00000447860:C65F;ENSP00000448653:C65F;ENSP00000325660:C65F;ENSP00000353213:C65F;ENSP00000261160:C54F	ENSP00000325660:C65F	C	+	2	0	CNTN1	39598807	1.000000	0.71417	0.981000	0.43875	0.993000	0.82548	9.015000	0.93640	2.533000	0.85409	0.585000	0.79938	TGT		0.438	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		8	60	1	0	3.1e-07	3.74e-07	8	60				
IRAK4	51135	broad.mit.edu	37	12	44180289	44180289	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr12:44180289G>A	ENST00000448290.2	+	11	1347	c.1276G>A	c.(1276-1278)Gtt>Att	p.V426I	IRAK4_ENST00000431837.1_Missense_Mutation_p.V302I|IRAK4_ENST00000440781.2_Missense_Mutation_p.V302I|IRAK4_ENST00000551736.1_Missense_Mutation_p.V426I	NM_016123.3	NP_057207.2	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	426	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		TTCCACTTCAGTTGAAGCTAT	0.284																																						uc001rnu.3		NA																	0					0						c.(1276-1278)GTT>ATT		interleukin-1 receptor-associated kinase 4							67.0	77.0	74.0					12																	44180289		2203	4295	6498	SO:0001583	missense	51135				innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr12:44180289G>A	AF155118	CCDS8744.1, CCDS44862.1	12q12	2014-09-17				ENSG00000198001			17967	protein-coding gene	gene with protein product		606883				3772297, 10508479	Standard	NM_001114182		Approved	NY-REN-64	uc001rnt.3	Q9NWZ3		ENST00000448290.2:c.1276G>A	12.37:g.44180289G>A	ENSP00000390651:p.Val426Ile					IRAK4_uc001rnt.3_Missense_Mutation_p.V426I|IRAK4_uc001rnx.3_Missense_Mutation_p.V302I|IRAK4_uc001rny.3_Missense_Mutation_p.V302I|IRAK4_uc010sky.1_Missense_Mutation_p.V302I|IRAK4_uc001rnv.3_Missense_Mutation_p.V302I|IRAK4_uc001rnw.3_Missense_Mutation_p.V302I	p.V426I	NM_001114182	NP_001107654	Q9NWZ3	IRAK4_HUMAN		GBM - Glioblastoma multiforme(48;0.04)	12	1406	+	all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)	426			Protein kinase.		Q69FE1|Q8TDF7|Q9Y589	Missense_Mutation	SNP	ENST00000448290.2	37	c.1276G>A	CCDS8744.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.066080	0.36470	.	.	ENSG00000198001	ENST00000440781;ENST00000431837;ENST00000448290;ENST00000551736	T;T;T;T	0.77877	-1.1;-1.1;-1.13;-1.13	6.02	3.09	0.35607	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.267040	0.36034	N	0.002831	T	0.52709	0.1751	N	0.05534	-0.03	0.37904	D	0.931155	B	0.02656	0.0	B	0.09377	0.004	T	0.33777	-0.9855	10	0.19590	T	0.45	-11.8354	5.8873	0.18888	0.2651:0.0:0.5979:0.137	.	426	Q9NWZ3	IRAK4_HUMAN	I	302;302;426;426	ENSP00000408734:V302I;ENSP00000390327:V302I;ENSP00000390651:V426I;ENSP00000446490:V426I	ENSP00000390327:V302I	V	+	1	0	IRAK4	42466556	0.998000	0.40836	0.959000	0.39883	0.997000	0.91878	1.162000	0.31786	0.347000	0.23924	0.650000	0.86243	GTT		0.284	IRAK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403947.1			16	87	0	0	0	0	16	87				
SCN8A	6334	broad.mit.edu	37	12	52056869	52056869	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr12:52056869A>T	ENST00000354534.6	+	2	446	c.268A>T	c.(268-270)Acg>Tcg	p.T90S	SCN8A_ENST00000545061.1_Missense_Mutation_p.T90S|SCN8A_ENST00000550891.1_Missense_Mutation_p.T90S	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	90					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	ATACTATTTGACGCAGAAAGT	0.527																																						uc001ryw.2		NA																	0				ovary(7)	7						c.(268-270)ACG>TCG		sodium channel, voltage gated, type VIII, alpha	Lamotrigine(DB00555)						127.0	125.0	126.0					12																	52056869		1967	4153	6120	SO:0001583	missense	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52056869A>T	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.268A>T	12.37:g.52056869A>T	ENSP00000346534:p.Thr90Ser						p.T90S	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	2	446	+			90					B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.268A>T	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	A	16.42	3.119353	0.56505	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133	D;D;D;D	0.95821	-3.79;-3.82;-3.8;-3.66	5.12	5.12	0.69794	.	.	.	.	.	D	0.89863	0.6838	N	0.11000	0.08	0.37949	D	0.932593	B	0.19817	0.039	B	0.12156	0.007	D	0.87926	0.2707	9	0.62326	D	0.03	.	15.4003	0.74834	1.0:0.0:0.0:0.0	.	90	Q9UQD0	SCN8A_HUMAN	S	90	ENSP00000448415:T90S;ENSP00000346534:T90S;ENSP00000440360:T90S;ENSP00000347255:T90S	ENSP00000346534:T90S	T	+	1	0	SCN8A	50343136	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.678000	0.68153	2.288000	0.76882	0.533000	0.62120	ACG		0.527	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		51	92	0	0	0	0	51	92				
MBD6	114785	broad.mit.edu	37	12	57918502	57918502	+	Splice_Site	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr12:57918502G>A	ENST00000355673.3	+	4	469		c.e4-1		MBD6_ENST00000431731.2_Splice_Site|MBD6_ENST00000549231.1_3'UTR	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6							chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						TCCTCTCGCAGTCCAAGTGGC	0.542																																						uc001soj.1		NA																	0				central_nervous_system(3)|ovary(1)	4						c.e4-1		methyl-CpG binding domain protein 6							70.0	65.0	67.0					12																	57918502		2203	4300	6503	SO:0001630	splice_region_variant	114785					chromosome|nucleus	chromatin binding|DNA binding	g.chr12:57918502G>A	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.114-1G>A	12.37:g.57918502G>A						MBD6_uc001sok.1_5'Flank|MBD6_uc001sol.1_5'Flank	p.S38_splice	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN			4	338	+								Q8N3M0|Q8NA81|Q96Q00	Splice_Site	SNP	ENST00000355673.3	37	c.114_splice	CCDS8944.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.593614	0.46214	.	.	ENSG00000166987	ENST00000548887;ENST00000551351;ENST00000546805;ENST00000355673;ENST00000546632;ENST00000431731;ENST00000552255;ENST00000552659	.	.	.	4.56	4.56	0.56223	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6263	0.84971	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MBD6	56204769	1.000000	0.71417	0.999000	0.59377	0.616000	0.37450	8.056000	0.89455	2.519000	0.84933	0.561000	0.74099	.		0.542	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1		Intron	39	47	0	0	0	0	39	47				
TRHDE	29953	broad.mit.edu	37	12	72956711	72956711	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr12:72956711A>G	ENST00000261180.4	+	9	1894	c.1798A>G	c.(1798-1800)Atc>Gtc	p.I600V	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	600					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TTATCCTGTTATCACCATCTT	0.328																																						uc001sxa.2		NA																	0				ovary(2)|skin(1)	3						c.(1798-1800)ATC>GTC		thyrotropin-releasing hormone degrading enzyme							93.0	97.0	96.0					12																	72956711		2203	4295	6498	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72956711A>G	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.1798A>G	12.37:g.72956711A>G	ENSP00000261180:p.Ile600Val						p.I600V	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN			9	1828	+			600			Extracellular (Potential).		A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.1798A>G	CCDS9004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.193|7.193	0.591828|0.591828	0.13812|0.13812	.|.	.|.	ENSG00000072657|ENSG00000072657	ENST00000261180|ENST00000547300	T|.	0.03982|.	3.74|.	6.17|6.17	5.04|5.04	0.67666|0.67666	.|.	0.228696|.	0.46145|.	N|.	0.000314|.	T|T	0.30696|0.30696	0.0773|0.0773	N|N	0.02985|0.02985	-0.445|-0.445	0.48632|0.48632	D|D	0.999682|0.999682	B|.	0.06786|.	0.001|.	B|.	0.04013|.	0.001|.	T|T	0.23119|0.23119	-1.0197|-1.0197	10|5	0.02654|.	T|.	1|.	.|.	11.8368|11.8368	0.52330|0.52330	0.9327:0.0:0.0673:0.0|0.9327:0.0:0.0673:0.0	.|.	600|.	Q9UKU6|.	TRHDE_HUMAN|.	V|C	600|187	ENSP00000261180:I600V|.	ENSP00000261180:I600V|.	I|Y	+|+	1|2	0|0	TRHDE|TRHDE	71242978|71242978	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	4.018000|4.018000	0.57174|0.57174	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	ATC|TAT		0.328	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		9	70	0	0	0	0	9	70				
KCNC2	3747	broad.mit.edu	37	12	75601187	75601187	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr12:75601187C>G	ENST00000549446.1	-	2	1257	c.577G>C	c.(577-579)Gag>Cag	p.E193Q	KCNC2_ENST00000550433.1_Missense_Mutation_p.E193Q|KCNC2_ENST00000393288.2_Missense_Mutation_p.E193Q|KCNC2_ENST00000540018.1_Missense_Mutation_p.E193Q|KCNC2_ENST00000350228.2_Missense_Mutation_p.E193Q|KCNC2_ENST00000341669.3_Missense_Mutation_p.E193Q|KCNC2_ENST00000548513.1_Missense_Mutation_p.E193Q|KCNC2_ENST00000298972.1_Missense_Mutation_p.E193Q	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	193					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	GCCGCGTCCTCGATGCCCAGC	0.721																																						uc001sxg.1		NA																	0		p.E193D(1)		breast(2)|pancreas(2)|skin(1)|lung(1)	6						c.(577-579)GAG>CAG		Shaw-related voltage-gated potassium channel																																				SO:0001583	missense	3747				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:75601187C>G	AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.577G>C	12.37:g.75601187C>G	ENSP00000449253:p.Glu193Gln					KCNC2_uc009zry.2_Missense_Mutation_p.E193Q|KCNC2_uc001sxe.2_Missense_Mutation_p.E193Q|KCNC2_uc001sxf.2_Missense_Mutation_p.E193Q|KCNC2_uc010stw.1_Missense_Mutation_p.E193Q	p.E193Q	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN			2	1121	-			193			Cytoplasmic (Potential).		B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Missense_Mutation	SNP	ENST00000549446.1	37	c.577G>C	CCDS9007.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.395251	0.42512	.	.	ENSG00000166006	ENST00000550433;ENST00000548513;ENST00000549446;ENST00000341669;ENST00000298972;ENST00000350228;ENST00000540018;ENST00000393288	D;D;D;D;D;D;D;D	0.97505	-4.41;-4.41;-4.4;-4.41;-4.41;-4.4;-4.39;-4.41	4.44	4.44	0.53790	.	3.319730	0.01249	N	0.008838	D	0.96340	0.8806	L	0.42529	1.33	0.80722	D	1	B;B;B;B;B	0.28324	0.071;0.115;0.052;0.015;0.207	B;B;B;B;B	0.31686	0.07;0.07;0.018;0.041;0.134	T	0.77059	-0.2728	10	0.41790	T	0.15	.	17.6084	0.88045	0.0:1.0:0.0:0.0	.	193;193;193;193;193	F5H030;Q96PR1-2;Q96PR1;Q96PR1-4;Q96PR1-3	.;.;KCNC2_HUMAN;.;.	Q	193	ENSP00000448301:E193Q;ENSP00000449941:E193Q;ENSP00000449253:E193Q;ENSP00000340121:E193Q;ENSP00000298972:E193Q;ENSP00000319877:E193Q;ENSP00000438423:E193Q;ENSP00000376966:E193Q	ENSP00000298972:E193Q	E	-	1	0	KCNC2	73887454	0.970000	0.33590	0.998000	0.56505	0.973000	0.67179	2.342000	0.43992	2.438000	0.82558	0.655000	0.94253	GAG		0.721	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748		4	22	0	0	0	0	4	22				
GLIPR1	11010	broad.mit.edu	37	12	75892486	75892486	+	Missense_Mutation	SNP	G	G	A	rs3736392	byFrequency	TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr12:75892486G>A	ENST00000266659.3	+	5	833	c.632G>A	c.(631-633)cGa>cAa	p.R211Q	KRR1_ENST00000229214.4_3'UTR	NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	211			R -> Q (in dbSNP:rs3736392).		cellular lipid metabolic process (GO:0044255)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						AACCGACAGCGAGACCAAGTC	0.323													G|||	2	0.000399361	0.0	0.0	5008	,	,		16720	0.002		0.0	False		,,,				2504	0.0					uc001sxs.2		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(631-633)CGA>CAA		GLI pathogenesis-related 1 precursor		G	GLN/ARG,	0,4406		0,0,2203	90.0	91.0	91.0		632,	5.3	1.0	12	dbSNP_107	91	2,8598	2.2+/-6.3	0,2,4298	no	missense,utr-3	GLIPR1,KRR1	NM_006851.2,NM_007043.6	43,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,	211/267,	75892486	2,13004	2203	4300	6503	SO:0001583	missense	11010				cellular lipid metabolic process	extracellular region|integral to membrane		g.chr12:75892486G>A	U16307	CCDS9011.1	12q14.1	2008-08-15	2008-08-15			ENSG00000139278			17001	protein-coding gene	gene with protein product		602692	"""GLI pathogenesis-related 1 (glioma)"""			7607567, 8973356	Standard	NM_006851		Approved	RTVP1, GliPR	uc001sxs.3	P48060	OTTHUMG00000169757	ENST00000266659.3:c.632G>A	12.37:g.75892486G>A	ENSP00000266659:p.Arg211Gln					GLIPR1_uc009zsb.1_Missense_Mutation_p.E235K|KRR1_uc001sxt.2_3'UTR|KRR1_uc009zsc.2_3'UTR	p.R211Q	NM_006851	NP_006842	P48060	GLIP1_HUMAN			5	780	+			211					A7YET6|F8VUC2|Q15409|Q969K2	Missense_Mutation	SNP	ENST00000266659.3	37	c.632G>A	CCDS9011.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	G|G	17.17|17.17	3.321314|3.321314	0.60634|0.60634	0.0|0.0	2.33E-4|2.33E-4	ENSG00000139278|ENSG00000139278	ENST00000456650|ENST00000266659	T|T	0.13778|0.08102	2.56|3.13	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	.|0.152448	.|0.41294	.|D	.|0.000910	T|T	0.24198|0.24198	0.0586|0.0586	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	D|D	0.89917|0.76494	1.0|0.999	D|D	0.66716|0.63597	0.946|0.916	T|T	0.00054|0.00054	-1.2184|-1.2184	9|10	0.87932|0.44086	D|T	0|0.13	.|.	14.3344|14.3344	0.66578|0.66578	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	rs3736392;rs52804364;rs3736392|rs3736392;rs52804364;rs3736392	235|211	F6VVE8|P48060	.|GLIP1_HUMAN	K|Q	235|211	ENSP00000391144:E235K|ENSP00000266659:R211Q	ENSP00000391144:E235K|ENSP00000266659:R211Q	E|R	+|+	1|2	0|0	GLIPR1|GLIPR1	74178753|74178753	0.998000|0.998000	0.40836|0.40836	0.995000|0.995000	0.50966|0.50966	0.222000|0.222000	0.24845|0.24845	3.303000|3.303000	0.51858|0.51858	2.758000|2.758000	0.94735|0.94735	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.323	GLIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405722.1	NM_006851		11	34	0	0	0	0	11	34				
PPP1R12A	4659	broad.mit.edu	37	12	80226236	80226236	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr12:80226236G>A	ENST00000450142.2	-	4	789	c.523C>T	c.(523-525)Cgg>Tgg	p.R175W	PPP1R12A_ENST00000437004.2_Missense_Mutation_p.R175W|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.R88W|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.R175W|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.R175W	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	175					centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						AGCATGATCCGTTCTTCTTCC	0.388																																						uc001syz.2		NA																	0				ovary(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(523-525)CGG>TGG		protein phosphatase 1, regulatory (inhibitor)							157.0	148.0	150.0					12																	80226236		1892	4121	6013	SO:0001583	missense	4659					contractile fiber	protein binding|signal transducer activity	g.chr12:80226236G>A	D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7618	protein-coding gene	gene with protein product	"""myosin phosphatase-targeting subunit 1"", ""myosin binding subunit"""	602021	"""protein phosphatase 1, regulatory (inhibitor) subunit 12A"""	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.523C>T	12.37:g.80226236G>A	ENSP00000389168:p.Arg175Trp					PPP1R12A_uc010suc.1_Missense_Mutation_p.R88W|PPP1R12A_uc001sza.2_Missense_Mutation_p.R175W|PPP1R12A_uc010sud.1_Missense_Mutation_p.R175W|PPP1R12A_uc001szb.2_Missense_Mutation_p.R175W|PPP1R12A_uc001szc.2_Missense_Mutation_p.R175W	p.R175W	NM_002480	NP_002471	O14974	MYPT1_HUMAN			4	790	-			175					B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	Missense_Mutation	SNP	ENST00000450142.2	37	c.523C>T	CCDS44947.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.278738	0.80692	.	.	ENSG00000058272	ENST00000261207;ENST00000546189;ENST00000360825;ENST00000341878;ENST00000312727;ENST00000450142;ENST00000437004;ENST00000546369;ENST00000550107;ENST00000547330;ENST00000550510;ENST00000548318	T;T;T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62	5.49	5.49	0.81192	Ankyrin repeat-containing domain (3);	0.061993	0.64402	D	0.000004	T	0.63640	0.2528	L	0.58101	1.795	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;P;D	0.75020	0.983;0.985;0.848;0.975	T	0.65821	-0.6075	10	0.87932	D	0	.	12.967	0.58490	0.0:0.0:0.7171:0.2829	.	175;175;175;175	F8W8Q6;O14974-2;O14974-3;O14974	.;.;.;MYPT1_HUMAN	W	175;175;175;175;175;175;175;88;175;175;103;25	ENSP00000261207:R175W;ENSP00000389168:R175W;ENSP00000416769:R175W;ENSP00000449514:R88W;ENSP00000446855:R175W;ENSP00000446816:R175W;ENSP00000447338:R103W;ENSP00000449843:R25W	ENSP00000261207:R175W	R	-	1	2	PPP1R12A	78750367	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	2.004000	0.40854	2.562000	0.86427	0.650000	0.86243	CGG		0.388	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407254.2	NM_002480		21	114	0	0	0	0	21	114				
ACSS3	79611	broad.mit.edu	37	12	81472018	81472018	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr12:81472018C>T	ENST00000548058.1	+	1	1029	c.119C>T	c.(118-120)cCg>cTg	p.P40L	ACSS3_ENST00000261206.3_Missense_Mutation_p.P40L			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	40						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TTAGTGGTCCCGGGCCCGCGG	0.731																																						uc001szl.1		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(118-120)CCG>CTG		acyl-CoA synthetase short-chain family member 3							6.0	8.0	7.0					12																	81472018		2021	4031	6052	SO:0001583	missense	79611					mitochondrion	acetate-CoA ligase activity|ATP binding	g.chr12:81472018C>T		CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.119C>T	12.37:g.81472018C>T	ENSP00000449535:p.Pro40Leu					ACSS3_uc001szm.1_Missense_Mutation_p.P40L	p.P40L	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN			1	210	+			40					Q8NC66	Missense_Mutation	SNP	ENST00000548058.1	37	c.119C>T	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.251093	0.39797	.	.	ENSG00000111058	ENST00000548058;ENST00000261206	T;T	0.25579	1.79;1.79	3.98	3.98	0.46160	.	0.112125	0.37530	N	0.002058	T	0.12092	0.0294	N	0.08118	0	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.07065	-1.0792	10	0.44086	T	0.13	-1.2375	7.4507	0.27237	0.0:0.883:0.0:0.117	.	40	Q9H6R3	ACSS3_HUMAN	L	40	ENSP00000449535:P40L;ENSP00000261206:P40L	ENSP00000261206:P40L	P	+	2	0	ACSS3	79996149	0.976000	0.34144	0.866000	0.34008	0.013000	0.08279	3.180000	0.50895	2.057000	0.61298	0.563000	0.77884	CCG		0.731	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560		3	19	0	0	0	0	3	19				
TMTC2	160335	broad.mit.edu	37	12	83250841	83250841	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr12:83250841A>G	ENST00000321196.3	+	2	843	c.136A>G	c.(136-138)Att>Gtt	p.I46V	TMTC2_ENST00000548305.1_Missense_Mutation_p.I46V|TMTC2_ENST00000549919.1_Missense_Mutation_p.I40V	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	46					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						ATGGACGCACATTTTCTACAA	0.428																																						uc001szt.2		NA																	0				ovary(2)	2						c.(136-138)ATT>GTT		transmembrane and tetratricopeptide repeat							127.0	136.0	133.0					12																	83250841		2203	4300	6503	SO:0001583	missense	160335					endoplasmic reticulum|integral to membrane	binding	g.chr12:83250841A>G	AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"""Tetratricopeptide (TTC) repeat domain containing"""	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.136A>G	12.37:g.83250841A>G	ENSP00000322300:p.Ile46Val					TMTC2_uc001szr.1_Missense_Mutation_p.I46V|TMTC2_uc001szs.1_Missense_Mutation_p.I46V|TMTC2_uc010suk.1_Intron	p.I46V	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN			2	568	+			46					B2RCU7|Q8N2K8	Missense_Mutation	SNP	ENST00000321196.3	37	c.136A>G	CCDS9025.1	.	.	.	.	.	.	.	.	.	.	A	17.39	3.378243	0.61735	.	.	ENSG00000179104	ENST00000321196;ENST00000548305;ENST00000549919	T;T;T	0.61859	0.71;0.07;0.62	6.16	6.16	0.99307	.	0.049023	0.85682	D	0.000000	T	0.52306	0.1726	L	0.43757	1.38	0.80722	D	1	B;P	0.36768	0.264;0.569	B;B	0.38683	0.074;0.279	T	0.48246	-0.9052	10	0.23891	T	0.37	-19.4197	15.3771	0.74615	1.0:0.0:0.0:0.0	.	46;46	Q8N394;F8VSH2	TMTC2_HUMAN;.	V	46;46;40	ENSP00000322300:I46V;ENSP00000448292:I46V;ENSP00000447609:I40V	ENSP00000322300:I46V	I	+	1	0	TMTC2	81774972	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.576000	0.82467	2.367000	0.80283	0.528000	0.53228	ATT		0.428	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588		61	117	0	0	0	0	61	117				
APAF1	317	broad.mit.edu	37	12	99056319	99056319	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr12:99056319G>T	ENST00000551964.1	+	6	1532	c.796G>T	c.(796-798)Gac>Tac	p.D266Y	APAF1_ENST00000359972.2_Missense_Mutation_p.D255Y|APAF1_ENST00000552268.1_Missense_Mutation_p.D266Y|APAF1_ENST00000339433.3_Missense_Mutation_p.D266Y|APAF1_ENST00000547045.1_Missense_Mutation_p.D266Y|APAF1_ENST00000357310.1_Missense_Mutation_p.D266Y|APAF1_ENST00000549007.1_Missense_Mutation_p.D266Y|APAF1_ENST00000550527.1_Missense_Mutation_p.D255Y|APAF1_ENST00000333991.1_Missense_Mutation_p.D266Y	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	266	NB-ARC.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)	p.D266Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TACAACCAGAGACAAGAGTGT	0.313																																						uc001tfz.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(2)|lung(1)	3						c.(796-798)GAC>TAC		apoptotic peptidase activating factor 1 isoform	Adenosine triphosphate(DB00171)						114.0	111.0	112.0					12																	99056319		2203	4300	6503	SO:0001583	missense	317				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	g.chr12:99056319G>T	AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.796G>T	12.37:g.99056319G>T	ENSP00000448165:p.Asp266Tyr					APAF1_uc001tfy.2_Missense_Mutation_p.D255Y|APAF1_uc001tga.2_Missense_Mutation_p.D255Y|APAF1_uc001tgb.2_Missense_Mutation_p.D266Y|APAF1_uc001tgc.2_Missense_Mutation_p.D266Y	p.D266Y	NM_181861	NP_863651	O14727	APAF_HUMAN			6	1373	+			266			NB-ARC.		B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Missense_Mutation	SNP	ENST00000551964.1	37	c.796G>T	CCDS9069.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.819196	0.71028	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000333991;ENST00000552268;ENST00000550527;ENST00000547045;ENST00000549007	T;T;T;T;T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22	5.87	5.87	0.94306	NB-ARC (1);	0.084638	0.85682	D	0.000000	D	0.87148	0.6105	M	0.64170	1.965	0.54753	D	0.999983	D;D;D;D;D	0.89917	0.997;1.0;1.0;1.0;0.998	P;D;D;D;D	0.91635	0.864;0.995;0.999;0.999;0.932	D	0.84470	0.0599	10	0.36615	T	0.2	-7.7563	20.206	0.98277	0.0:0.0:1.0:0.0	.	266;266;255;266;255	O14727-6;O14727-4;O14727-3;O14727;O14727-2	.;.;.;APAF_HUMAN;.	Y	266;255;266;266;266;266;255;266;266	ENSP00000448165:D266Y;ENSP00000353059:D255Y;ENSP00000349862:D266Y;ENSP00000341830:D266Y;ENSP00000334558:D266Y;ENSP00000448826:D266Y;ENSP00000448449:D255Y;ENSP00000449791:D266Y;ENSP00000448161:D266Y	ENSP00000334558:D266Y	D	+	1	0	APAF1	97580450	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.967000	0.70403	2.785000	0.95823	0.655000	0.94253	GAC		0.313	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1		17	25	1	0	2.49e-13	3.25e-13	17	25				
ANO4	121601	broad.mit.edu	37	12	101381432	101381432	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr12:101381432C>A	ENST00000392977.3	+	8	928	c.718C>A	c.(718-720)Cag>Aag	p.Q240K	ANO4_ENST00000392979.3_Missense_Mutation_p.Q205K|ANO4_ENST00000538618.1_3'UTR|ANO4_ENST00000299222.9_5'UTR			Q32M45	ANO4_HUMAN	anoctamin 4	240					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CCCTTTCAGCCAGCAAAGGAT	0.527										HNSCC(74;0.22)	OREG0022059	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010svm.1		NA																	0				ovary(4)|skin(2)	6						c.(718-720)CAG>AAG		anoctamin 4							193.0	157.0	169.0					12																	101381432		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101381432C>A	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.718C>A	12.37:g.101381432C>A	ENSP00000376703:p.Gln240Lys	HNSCC(74;0.22)	OREG0022059	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1358	ANO4_uc010svl.1_RNA|ANO4_uc001thw.2_Missense_Mutation_p.Q205K|ANO4_uc001thx.2_Missense_Mutation_p.Q240K	p.Q240K	NM_178826	NP_849148	Q32M45	ANO4_HUMAN			8	1290	+			240			Extracellular (Potential).		Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.718C>A		.	.	.	.	.	.	.	.	.	.	C	10.43	1.348554	0.24426	.	.	ENSG00000151572	ENST00000392979;ENST00000392977	T;T	0.62941	-0.01;-0.01	5.33	5.33	0.75918	.	0.077287	0.53938	D	0.000050	T	0.37348	0.1000	N	0.02120	-0.675	0.80722	D	1	B;B	0.13145	0.004;0.007	B;B	0.12837	0.004;0.008	T	0.32188	-0.9916	10	0.13853	T	0.58	.	19.0483	0.93030	0.0:1.0:0.0:0.0	.	240;205	Q32M45;Q32M45-2	ANO4_HUMAN;.	K	205;240	ENSP00000376705:Q205K;ENSP00000376703:Q240K	ENSP00000376703:Q240K	Q	+	1	0	ANO4	99905563	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.540000	0.53611	2.495000	0.84180	0.655000	0.94253	CAG		0.527	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		27	142	1	0	8.17e-17	1.09e-16	27	142				
CCDC92	80212	broad.mit.edu	37	12	124421993	124421993	+	Missense_Mutation	SNP	C	C	T	rs200976444		TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr12:124421993C>T	ENST00000238156.3	-	5	962	c.608G>A	c.(607-609)cGc>cAc	p.R203H	CCDC92_ENST00000544798.1_Intron|CCDC92_ENST00000545135.1_Missense_Mutation_p.R186H|DNAH10OS_ENST00000514254.2_5'Flank|RP11-380L11.3_ENST00000602292.1_RNA|CCDC92_ENST00000545891.1_Missense_Mutation_p.R186H	NM_025140.1	NP_079416.1	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	203						centriole (GO:0005814)				large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		CATGCGGCGGCGAGGCGTTTC	0.612													c|||	1	0.000199681	0.0	0.0	5008	,	,		15378	0.0		0.001	False		,,,				2504	0.0					uc001ufw.1		NA																	0					0						c.(607-609)CGC>CAC		coiled-coil domain containing 92		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	45.0	50.0	49.0		608	3.7	0.9	12		49	0,8600		0,0,4300	no	missense	CCDC92	NM_025140.1	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	203/332	124421993	1,13005	2203	4300	6503	SO:0001583	missense	80212							g.chr12:124421993C>T	AK026124	CCDS9256.1	12q24.31	2011-09-02			ENSG00000119242	ENSG00000119242			29563	protein-coding gene	gene with protein product	"""limkain beta 2"""					12477932	Standard	NM_025140		Approved	FLJ22471	uc001ufw.1	Q53HC0	OTTHUMG00000168725	ENST00000238156.3:c.608G>A	12.37:g.124421993C>T	ENSP00000238156:p.Arg203His					CCDC92_uc001ufv.1_Missense_Mutation_p.R186H|CCDC92_uc001ufx.1_Missense_Mutation_p.R203H|CCDC92_uc001ufy.1_Missense_Mutation_p.R186H	p.R203H	NM_025140	NP_079416	Q53HC0	CCD92_HUMAN		Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)	5	755	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		203					B3KNQ0|Q9H697	Missense_Mutation	SNP	ENST00000238156.3	37	c.608G>A	CCDS9256.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	c	23.6	4.434688	0.83885	2.27E-4	0.0	ENSG00000119242	ENST00000238156;ENST00000545135;ENST00000545891	T;T;T	0.30714	1.52;1.55;1.55	5.56	3.73	0.42828	.	0.051553	0.85682	D	0.000000	T	0.40171	0.1106	L	0.32530	0.975	0.53005	D	0.999961	D	0.76494	0.999	P	0.62014	0.897	T	0.19943	-1.0290	10	0.62326	D	0.03	-20.5851	12.8031	0.57596	0.1311:0.7433:0.1257:0.0	.	203	Q53HC0	CCD92_HUMAN	H	203;186;186	ENSP00000238156:R203H;ENSP00000439526:R186H;ENSP00000440024:R186H	ENSP00000238156:R203H	R	-	2	0	CCDC92	122987946	1.000000	0.71417	0.936000	0.37596	0.618000	0.37518	4.444000	0.60001	0.707000	0.31934	-0.225000	0.12378	CGC		0.612	CCDC92-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400780.2	NM_025140		33	51	0	0	0	0	33	51				
N6AMT2	221143	broad.mit.edu	37	13	21311925	21311925	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr13:21311925T>C	ENST00000382758.1	-	3	211	c.164A>G	c.(163-165)tAt>tGt	p.Y55C	N6AMT2_ENST00000382754.4_Missense_Mutation_p.Y55C			Q8WVE0	N6MT2_HUMAN	N-6 adenine-specific DNA methyltransferase 2 (putative)	55						extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(3)|lung(3)	7		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)		TTCCTGACTATACCAAAACTG	0.393																																						uc001uno.1		NA																	0					0						c.(163-165)TAT>TGT		N-6 adenine-specific DNA methyltransferase 2							62.0	50.0	54.0					13																	21311925		2203	4300	6503	SO:0001583	missense	221143						methyltransferase activity|nucleic acid binding	g.chr13:21311925T>C	AK055408	CCDS9293.1	13q12.11	2006-12-14			ENSG00000150456	ENSG00000150456			27351	protein-coding gene	gene with protein product						12477932	Standard	NM_174928		Approved		uc001uno.1	Q8WVE0	OTTHUMG00000016519	ENST00000382758.1:c.164A>G	13.37:g.21311925T>C	ENSP00000372206:p.Tyr55Cys					N6AMT2_uc009zzr.1_Missense_Mutation_p.Y55C|N6AMT2_uc001unp.2_Intron	p.Y55C	NM_174928	NP_777588	Q8WVE0	N6MT2_HUMAN		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)	3	245	-		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)	55					B5G4V1	Missense_Mutation	SNP	ENST00000382758.1	37	c.164A>G	CCDS9293.1	.	.	.	.	.	.	.	.	.	.	T	14.89	2.670203	0.47677	.	.	ENSG00000150456	ENST00000382758;ENST00000382754	T;T	0.60548	0.18;0.18	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.83271	0.5218	H	0.95224	3.64	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88438	0.3040	10	0.87932	D	0	.	16.1819	0.81915	0.0:0.0:0.0:1.0	.	55	Q8WVE0	N6MT2_HUMAN	C	55	ENSP00000372206:Y55C;ENSP00000372202:Y55C	ENSP00000372202:Y55C	Y	-	2	0	N6AMT2	20209925	1.000000	0.71417	0.934000	0.37439	0.007000	0.05969	7.060000	0.76692	2.279000	0.76181	0.533000	0.62120	TAT		0.393	N6AMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044083.1	NM_174928		13	16	0	0	0	0	13	16				
FLT1	2321	broad.mit.edu	37	13	28931821	28931821	+	Splice_Site	SNP	T	T	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr13:28931821T>A	ENST00000282397.4	-	15	2369	c.2118A>T	c.(2116-2118)ggA>ggT	p.G706G		NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	706	Ig-like C2-type 7.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTAAAATAATTCCTGAGGGGT	0.443																																						uc001usb.3		NA																	0				lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24						c.(2116-2118)GGA>GGT		fms-related tyrosine kinase 1 isoform 1	Sunitinib(DB01268)						133.0	126.0	128.0					13																	28931821		2203	4300	6503	SO:0001630	splice_region_variant	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28931821T>A	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.2117-1A>T	13.37:g.28931821T>A							p.G706G	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	15	2403	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	706			Ig-like C2-type 7.|Extracellular (Potential).		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Silent	SNP	ENST00000282397.4	37	c.2118A>T	CCDS9330.1																																																																																				0.443	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1		Silent	64	50	0	0	0	0	64	50				
SIAH3	283514	broad.mit.edu	37	13	46357673	46357673	+	Missense_Mutation	SNP	G	G	A	rs370343302		TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr13:46357673G>A	ENST00000400405.2	-	2	761	c.655C>T	c.(655-657)Cgg>Tgg	p.R219W		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	219					multicellular organismal development (GO:0007275)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						AGAACAGACCGGGGCGTGGCC	0.617																																						uc001vap.2		NA																	0				ovary(1)|skin(1)	2						c.(655-657)CGG>TGG		seven in absentia homolog 3							50.0	56.0	54.0					13																	46357673		1998	4157	6155	SO:0001583	missense	283514				multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding	g.chr13:46357673G>A		CCDS41883.1	13q14.12	2012-02-23	2012-02-23		ENSG00000215475	ENSG00000215475			30553	protein-coding gene	gene with protein product		615609	"""seven in absentia homolog 3 (Drosophila)"""			12477932	Standard	NM_198849		Approved	FLJ39203	uc001vap.3	Q8IW03	OTTHUMG00000016862	ENST00000400405.2:c.655C>T	13.37:g.46357673G>A	ENSP00000383256:p.Arg219Trp						p.R219W	NM_198849	NP_942146	Q8IW03	SIAH3_HUMAN			2	737	-			219					B7ZBP0|Q8N8M6	Missense_Mutation	SNP	ENST00000400405.2	37	c.655C>T	CCDS41883.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.520551	0.44866	.	.	ENSG00000215475	ENST00000400405	T	0.30981	1.51	5.07	-0.623	0.11556	TRAF-type (1);Seven-in-absentia protein, TRAF-like domain (1);TRAF-like (1);	0.000000	0.85682	U	0.000000	T	0.52821	0.1758	M	0.75615	2.305	0.32750	N	0.506461	D	0.89917	1.0	D	0.97110	1.0	T	0.67542	-0.5644	10	0.87932	D	0	-15.8518	15.5687	0.76317	0.0:0.0:0.4102:0.5898	.	219	Q8IW03	SIAH3_HUMAN	W	219	ENSP00000383256:R219W	ENSP00000383256:R219W	R	-	1	2	SIAH3	45255674	0.865000	0.29922	0.357000	0.25798	0.310000	0.27922	1.036000	0.30228	-0.026000	0.13895	0.561000	0.74099	CGG		0.617	SIAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044788.2	NM_198849		22	26	0	0	0	0	22	26				
SLITRK5	26050	broad.mit.edu	37	13	88329467	88329467	+	Silent	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr13:88329467G>A	ENST00000325089.6	+	2	2043	c.1824G>A	c.(1822-1824)tcG>tcA	p.S608S	SLITRK5_ENST00000400028.3_Silent_p.S367S	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	608	LRRCT 2.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CCATTAAGTCGGAGCTGCTGT	0.582																																						uc001vln.2		NA																	0				ovary(2)|pancreas(2)|central_nervous_system(1)	5						c.(1822-1824)TCG>TCA		SLIT and NTRK-like family, member 5 precursor							157.0	145.0	149.0					13																	88329467		2203	4300	6503	SO:0001819	synonymous_variant	26050					integral to membrane		g.chr13:88329467G>A	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1824G>A	13.37:g.88329467G>A						SLITRK5_uc010tic.1_Silent_p.S367S	p.S608S	NM_015567	NP_056382	O94991	SLIK5_HUMAN			2	2043	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		608			LRRCT 2.|Extracellular (Potential).		B3KNB8|B4DSH5|Q5VT81	Silent	SNP	ENST00000325089.6	37	c.1824G>A	CCDS9465.1																																																																																				0.582	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			23	154	0	0	0	0	23	154				
NALCN	259232	broad.mit.edu	37	13	101997697	101997697	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr13:101997697G>T	ENST00000251127.6	-	7	800	c.719C>A	c.(718-720)cCa>cAa	p.P240Q	NALCN_ENST00000376196.3_Missense_Mutation_p.P240Q|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	240					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAATCCAGGTGGGCACTGGTA	0.448																																						uc001vox.1		NA																	0				ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(718-720)CCA>CAA		voltage gated channel like 1							180.0	159.0	166.0					13																	101997697		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101997697G>T	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.719C>A	13.37:g.101997697G>T	ENSP00000251127:p.Pro240Gln					NALCN_uc001voy.2_5'UTR|NALCN_uc001voz.2_Missense_Mutation_p.P240Q|NALCN_uc001vpa.2_Missense_Mutation_p.P240Q	p.P240Q	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			7	908	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		240			Extracellular (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.719C>A	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.825486	0.90955	.	.	ENSG00000102452	ENST00000251127;ENST00000376196	D;D	0.98876	-4.97;-5.2	5.75	5.75	0.90469	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99001	0.9659	M	0.67953	2.075	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.77557	0.974;0.99	D	0.99898	1.1152	10	0.87932	D	0	.	19.9662	0.97271	0.0:0.0:1.0:0.0	.	240;240	F2Z323;Q8IZF0	.;NALCN_HUMAN	Q	240	ENSP00000251127:P240Q;ENSP00000365367:P240Q	ENSP00000251127:P240Q	P	-	2	0	NALCN	100795698	1.000000	0.71417	0.990000	0.47175	0.998000	0.95712	9.476000	0.97823	2.701000	0.92244	0.650000	0.86243	CCA		0.448	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		51	42	1	0	5.14e-22	7.04e-22	51	42				
IRS2	8660	broad.mit.edu	37	13	110436062	110436062	+	Missense_Mutation	SNP	G	G	A	rs199672355		TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr13:110436062G>A	ENST00000375856.3	-	1	2853	c.2339C>T	c.(2338-2340)cCg>cTg	p.P780L		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	780					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			GAAGTCGGGCGGGGTGCCCGT	0.692																																					Melanoma(100;613 2409 40847)	uc001vqv.2		NA																	0				large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|skin(1)|ovary(1)|kidney(1)	8						c.(2338-2340)CCG>CTG		insulin receptor substrate 2							12.0	9.0	10.0					13																	110436062		2147	4232	6379	SO:0001583	missense	8660				fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity	g.chr13:110436062G>A	AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"""Pleckstrin homology (PH) domain containing"""	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.2339C>T	13.37:g.110436062G>A	ENSP00000365016:p.Pro780Leu						p.P780L	NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)		1	2853	-	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	780					Q96RR2|Q9BZG0|Q9Y6I5	Missense_Mutation	SNP	ENST00000375856.3	37	c.2339C>T	CCDS9510.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.069253	0.55539	.	.	ENSG00000185950	ENST00000375856	T	0.70986	-0.53	4.56	4.56	0.56223	.	0.061962	0.64402	D	0.000003	T	0.81692	0.4876	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.65010	0.931	D	0.83863	0.0269	10	0.72032	D	0.01	-12.7934	12.0352	0.53420	0.0834:0.0:0.9166:0.0	.	780	Q9Y4H2	IRS2_HUMAN	L	780	ENSP00000365016:P780L	ENSP00000365016:P780L	P	-	2	0	IRS2	109234063	1.000000	0.71417	0.909000	0.35828	0.198000	0.23893	5.784000	0.68990	2.360000	0.80028	0.549000	0.68633	CCG		0.692	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045755.1	NM_003749		7	3	0	0	0	0	7	3				
METTL17	64745	broad.mit.edu	37	14	21464756	21464757	+	Missense_Mutation	DNP	GC	GC	AT	rs375740638		TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr14:21464756_21464757GC>AT	ENST00000339374.6	+	13	1384_1385	c.1151_1152GC>AT	c.(1150-1152)cGC>cAT	p.R384H	SLC39A2_ENST00000554422.1_5'Flank|SLC39A2_ENST00000298681.4_5'Flank|RP11-84C10.4_ENST00000557335.1_RNA|METTL17_ENST00000382985.4_Missense_Mutation_p.R384H|METTL17_ENST00000556670.2_Missense_Mutation_p.R384H	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	384					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	copper ion binding (GO:0005507)|methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						GAGGCTCATCGCTGGCCCCGTA	0.515																																						uc001vyn.2		NA																	0					0						c.(1150-1152)CGC>CAT		methyltransferase 11 domain containing 1 isoform																																				SO:0001583	missense	64745				translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity	g.chr14:21464756_21464757GC>AT	AK024512	CCDS9562.1, CCDS41913.1	14q11.2	2011-03-03	2011-03-02	2011-03-02	ENSG00000165792	ENSG00000165792			19280	protein-coding gene	gene with protein product			"""methyltransferase 11 domain containing 1"""	METT11D1		11278769	Standard	XM_006720235		Approved	FLJ20859	uc001vyn.3	Q9H7H0	OTTHUMG00000029610	Exception_encountered	14.37:g.21464756_21464757delinsAT	ENSP00000343041:p.Arg384His					METT11D1_uc001vym.2_Missense_Mutation_p.R384H|METT11D1_uc001vyo.2_Missense_Mutation_p.R384H|METT11D1_uc001vyp.2_Missense_Mutation_p.R226H|METT11D1_uc001vyq.2_Missense_Mutation_p.R226H|SLC39A2_uc001vyr.2_5'Flank|SLC39A2_uc001vys.2_5'Flank	p.R384H	NM_022734	NP_073571	Q9H7H0	MET17_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0191)	13	1348_1349	+	all_cancers(95;0.00267)		384					Q9BSH1|Q9BZH2|Q9BZH3	Missense_Mutation	DNP	ENST00000339374.6	37	c.1151_1152GC>AT	CCDS9562.1																																																																																				0.515	METTL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073804.4	NM_022734		16	28	0	0	0	0	16	28				
JPH4	84502	broad.mit.edu	37	14	24045142	24045142	+	Silent	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr14:24045142G>A	ENST00000397118.3	-	4	1805	c.903C>T	c.(901-903)aaC>aaT	p.N301N	JPH4_ENST00000544177.1_5'Flank|JPH4_ENST00000356300.4_Silent_p.N301N	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	301					calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)		p.N301K(1)		endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		AGCGCAGCCCGTTGGAGCGCT	0.746																																						uc001wkq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(901-903)AAC>AAT		junctophilin 4							7.0	8.0	8.0					14																	24045142		1798	3677	5475	SO:0001819	synonymous_variant	84502				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane		g.chr14:24045142G>A	AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"""junctophilin like 1"""	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.903C>T	14.37:g.24045142G>A						JPH4_uc010tnr.1_5'Flank|JPH4_uc001wkr.2_Silent_p.N301N|JPH4_uc001wks.2_Silent_p.N301N	p.N301N	NM_032452	NP_115828	Q96JJ6	JPH4_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	4	1821	-	all_cancers(95;0.000251)		301			Cytoplasmic (Potential).		D3DS53|Q8ND44|Q96DQ0	Silent	SNP	ENST00000397118.3	37	c.903C>T	CCDS9603.1																																																																																				0.746	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413853.1	NM_032452		5	25	0	0	0	0	5	25				
NOP9	161424	broad.mit.edu	37	14	24769788	24769788	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr14:24769788G>C	ENST00000267425.3	+	2	515	c.422G>C	c.(421-423)tGc>tCc	p.C141S	NOP9_ENST00000396802.3_Missense_Mutation_p.C141S|DHRS1_ENST00000396813.1_5'Flank|DHRS1_ENST00000288111.7_5'Flank	NM_174913.1	NP_777573.1	Q86U38	NOP9_HUMAN	NOP9 nucleolar protein	141							poly(A) RNA binding (GO:0044822)										TGTCACCGATGCGGGGTCCAT	0.567																																						uc001wol.1		NA																	0				breast(2)|central_nervous_system(1)|skin(1)	4						c.(421-423)TGC>TCC		hypothetical protein LOC161424							219.0	193.0	202.0					14																	24769788		2203	4300	6503	SO:0001583	missense	161424						RNA binding	g.chr14:24769788G>C		CCDS9624.1, CCDS66616.1	14q12	2012-12-10	2012-12-10	2012-06-06	ENSG00000196943	ENSG00000196943			19826	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 21"", ""NOP9 nucleolar protein homolog (yeast)"""	C14orf21		21653694	Standard	XM_005267385		Approved		uc001wol.1	Q86U38	OTTHUMG00000029342	ENST00000267425.3:c.422G>C	14.37:g.24769788G>C	ENSP00000267425:p.Cys141Ser					C14orf21_uc001wom.1_5'Flank|DHRS1_uc001woj.1_5'Flank|DHRS1_uc001wok.2_5'Flank	p.C141S	NM_174913	NP_777573	Q86U38	CN021_HUMAN		GBM - Glioblastoma multiforme(265;0.0185)	2	485	+			141					A8MY76|Q8IVF0|Q8TBS6	Missense_Mutation	SNP	ENST00000267425.3	37	c.422G>C	CCDS9624.1	.	.	.	.	.	.	.	.	.	.	G	10.04	1.242351	0.22796	.	.	ENSG00000196943	ENST00000267425;ENST00000396802	T;T	0.12984	2.63;2.63	4.96	3.04	0.35103	Armadillo-like helical (1);Armadillo-type fold (1);	0.241346	0.41500	D	0.000864	T	0.09024	0.0223	N	0.16903	0.455	0.38485	D	0.947819	B	0.13145	0.007	B	0.12156	0.007	T	0.16335	-1.0406	10	0.34782	T	0.22	-12.8271	12.6193	0.56594	0.0:0.0:0.6983:0.3017	.	141	Q86U38	CN021_HUMAN	S	141	ENSP00000267425:C141S;ENSP00000380020:C141S	ENSP00000267425:C141S	C	+	2	0	C14orf21	23839628	0.941000	0.31946	0.790000	0.31976	0.934000	0.57294	2.544000	0.45761	0.597000	0.29811	0.655000	0.94253	TGC		0.567	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073186.2			48	128	0	0	0	0	48	128				
NPAS3	64067	broad.mit.edu	37	14	33684540	33684540	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr14:33684540T>A	ENST00000356141.4	+	3	293	c.293T>A	c.(292-294)aTt>aAt	p.I98N	NPAS3_ENST00000341321.4_Missense_Mutation_p.I98N|NPAS3_ENST00000551492.1_Missense_Mutation_p.I105N|NPAS3_ENST00000357798.5_Missense_Mutation_p.I68N|NPAS3_ENST00000547068.1_5'UTR|NPAS3_ENST00000346562.2_Missense_Mutation_p.I68N|NPAS3_ENST00000551008.1_5'UTR|NPAS3_ENST00000548645.1_Missense_Mutation_p.I68N			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	98	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CGACTTACAATTAGCTATCTG	0.463																																						uc001wru.2		NA																	0				ovary(1)|skin(1)	2						c.(292-294)ATT>AAT		neuronal PAS domain protein 3 isoform 3							130.0	125.0	127.0					14																	33684540		2203	4300	6503	SO:0001583	missense	64067				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr14:33684540T>A	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.293T>A	14.37:g.33684540T>A	ENSP00000348460:p.Ile98Asn					NPAS3_uc001wrs.2_Missense_Mutation_p.I68N|NPAS3_uc001wrt.2_Missense_Mutation_p.I68N|NPAS3_uc001wrv.2_Missense_Mutation_p.I68N|NPAS3_uc001wrw.2_5'UTR	p.I98N	NM_173159	NP_071406	Q8IXF0	NPAS3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)	3	357	+	Breast(36;0.0102)|Hepatocellular(127;0.133)		98			Helix-loop-helix motif.		Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Missense_Mutation	SNP	ENST00000356141.4	37	c.293T>A	CCDS53891.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.382130	0.82792	.	.	ENSG00000151322	ENST00000551634;ENST00000551492;ENST00000346562;ENST00000341321;ENST00000548645;ENST00000356141;ENST00000357798;ENST00000546849	T;T;T;D;T;T;T	0.98531	3.26;3.1;3.14;-4.98;3.13;3.13;2.95	5.83	5.83	0.93111	Helix-loop-helix DNA-binding (4);	0.000000	0.64402	D	0.000003	D	0.98883	0.9622	M	0.80616	2.505	0.80722	D	1	D;D;D;D	0.76494	0.997;0.995;0.997;0.999	D;D;D;D	0.81914	0.984;0.963;0.963;0.995	D	0.99850	1.1070	10	0.87932	D	0	.	16.194	0.82011	0.0:0.0:0.0:1.0	.	68;98;68;68	Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3	.;NPAS3_HUMAN;.;.	N	75;105;68;98;68;98;68;8	ENSP00000448373:I75N;ENSP00000450392:I105N;ENSP00000319610:I68N;ENSP00000344158:I98N;ENSP00000448916:I68N;ENSP00000348460:I98N;ENSP00000350446:I68N	ENSP00000344158:I98N	I	+	2	0	NPAS3	32754291	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.040000	0.89188	2.225000	0.72522	0.460000	0.39030	ATT		0.463	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1			34	66	0	0	0	0	34	66				
LRFN5	145581	broad.mit.edu	37	14	42360587	42360587	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr14:42360587A>G	ENST00000298119.4	+	4	2709	c.1520A>G	c.(1519-1521)cAg>cGg	p.Q507R	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	507						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GGTTGCATCCAGTTTACTACG	0.433										HNSCC(30;0.082)																												uc001wvm.2		NA																	0				ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(1519-1521)CAG>CGG		leucine rich repeat and fibronectin type III							243.0	220.0	227.0					14																	42360587		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42360587A>G	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1520A>G	14.37:g.42360587A>G	ENSP00000298119:p.Gln507Arg	HNSCC(30;0.082)				LRFN5_uc010ana.2_Intron	p.Q507R	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	4	2718	+			507			Extracellular (Potential).		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.1520A>G	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	A	14.59	2.579463	0.46006	.	.	ENSG00000165379	ENST00000298119	T	0.48522	0.81	5.87	5.87	0.94306	.	0.000000	0.53938	D	0.000054	T	0.40839	0.1133	L	0.38838	1.175	0.80722	D	1	B	0.24823	0.112	B	0.26202	0.067	T	0.22521	-1.0214	10	0.40728	T	0.16	.	14.2151	0.65788	1.0:0.0:0.0:0.0	.	507	Q96NI6	LRFN5_HUMAN	R	507	ENSP00000298119:Q507R	ENSP00000298119:Q507R	Q	+	2	0	LRFN5	41430337	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.239000	0.73571	0.528000	0.53228	CAG		0.433	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		25	95	0	0	0	0	25	95				
GPR137C	283554	broad.mit.edu	37	14	53020234	53020234	+	Silent	SNP	C	C	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr14:53020234C>A	ENST00000321662.6	+	1	369	c.369C>A	c.(367-369)ccC>ccA	p.P123P	TXNDC16_ENST00000554399.1_5'Flank|TXNDC16_ENST00000281741.4_5'Flank	NM_001099652.1	NP_001093122.1	Q8N3F9	G137C_HUMAN	G protein-coupled receptor 137C	123						integral component of membrane (GO:0016021)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8	Breast(41;0.0716)					ACTTCTTCCCCCACTGGCTGC	0.672																																						uc001wzu.3		NA																	0					0						c.(367-369)CCC>CCA		G protein-coupled receptor 137C							43.0	51.0	49.0					14																	53020234		2094	4211	6305	SO:0001819	synonymous_variant	283554					integral to membrane		g.chr14:53020234C>A	BX647179	CCDS45106.1	14q22.1	2012-08-10				ENSG00000180998			25445	protein-coding gene	gene with protein product							Standard	NM_001099652		Approved	DKFZp762F0713, TM7SF1L2	uc001wzu.4	Q8N3F9		ENST00000321662.6:c.369C>A	14.37:g.53020234C>A						TXNDC16_uc010tqu.1_5'Flank|TXNDC16_uc001wzs.2_5'Flank|TXNDC16_uc010aoe.2_5'Flank|GPR137C_uc001wzt.3_Silent_p.P123P	p.P123P	NM_001099652	NP_001093122	Q8N3F9	G137C_HUMAN			1	369	+	Breast(41;0.0716)		123			Helical; (Potential).		Q86SM2	Silent	SNP	ENST00000321662.6	37	c.369C>A	CCDS45106.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.485|0.485	-0.878147|-0.878147	0.02550|0.02550	.|.	.|.	ENSG00000180998|ENSG00000180998	ENST00000555622|ENST00000542169	T|T	0.47177|0.44083	0.85|0.93	4.79|4.79	1.68|1.68	0.24146|0.24146	.|.	0.126969|0.126969	0.52532|0.52532	D|D	0.000074|0.000074	T|T	0.51975|0.51975	0.1706|0.1706	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.48364|0.48364	-0.9042|-0.9042	6|6	.|.	.|.	.|.	-8.4686|-8.4686	15.3309|15.3309	0.74208|0.74208	0.0:0.4446:0.5554:0.0|0.0:0.4446:0.5554:0.0	.|.	.|.	.|.	.|.	H|T	33|77	ENSP00000452563:P33H|ENSP00000439165:P77T	.|.	P|P	+|+	2|1	0|0	GPR137C|GPR137C	52089984|52089984	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.069000|0.069000	0.16628|0.16628	1.250000|1.250000	0.32850|0.32850	0.005000|0.005000	0.14708|0.14708	0.484000|0.484000	0.47621|0.47621	CCC|CCA		0.672	GPR137C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411685.1	XM_290615		12	56	1	0	7.04e-09	8.79e-09	12	56				
PSMC6	5706	broad.mit.edu	37	14	53173987	53173987	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr14:53173987T>C	ENST00000606149.1	+	1	66	c.50T>C	c.(49-51)cTt>cCt	p.L17P	PSMC6_ENST00000445930.2_Missense_Mutation_p.L31P	NM_002806.3	NP_002797.3	P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	17					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein binding, bridging (GO:0030674)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					AAGAAGTTGCTTGAACACAAG	0.537																																						uc010tqx.1		NA																	0				lung(1)	1						c.(91-93)CTT>CCT		proteasome 26S ATPase subunit 6							62.0	53.0	56.0					14																	53173987		2203	4300	6503	SO:0001583	missense	5706				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging	g.chr14:53173987T>C		CCDS9710.2	14q22.1	2010-04-21			ENSG00000100519	ENSG00000100519		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9553	protein-coding gene	gene with protein product		602708				8674546, 9473509	Standard	NM_002806		Approved	p42	uc010tqx.2	P62333	OTTHUMG00000152333	ENST00000606149.1:c.50T>C	14.37:g.53173987T>C	ENSP00000475721:p.Leu17Pro					PSMC6_uc010tqv.1_Missense_Mutation_p.L31P|PSMC6_uc010tqw.1_Silent_p.L24L	p.L31P	NM_002806	NP_002797	P62333	PRS10_HUMAN			1	92	+	Breast(41;0.176)		17					B2R975|P49719|Q6IBU3|Q92524	Missense_Mutation	SNP	ENST00000606149.1	37	c.92T>C		.	.	.	.	.	.	.	.	.	.	T	23.5	4.425958	0.83667	.	.	ENSG00000100519	ENST00000445930	D	0.94184	-3.37	4.64	4.64	0.57946	.	0.068874	0.64402	D	0.000011	D	0.94434	0.8209	M	0.88105	2.93	0.80722	D	1	B	0.32543	0.375	B	0.37047	0.24	D	0.94876	0.8034	10	0.66056	D	0.02	.	14.1646	0.65469	0.0:0.0:0.0:1.0	.	17	P62333	PRS10_HUMAN	P	31	ENSP00000401802:L31P	ENSP00000401802:L31P	L	+	2	0	PSMC6	52243737	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.659000	0.74412	2.071000	0.62044	0.459000	0.35465	CTT		0.537	PSMC6-018	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470741.1	NM_002806		7	30	0	0	0	0	7	30				
RIN3	79890	broad.mit.edu	37	14	93118018	93118018	+	Silent	SNP	C	C	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr14:93118018C>G	ENST00000216487.7	+	6	783	c.624C>G	c.(622-624)tcC>tcG	p.S208S	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	208					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CCCTAGTCTCCAGCCTCAGGC	0.572																																						uc001yap.2		NA																	0				lung(2)|ovary(1)	3						c.(622-624)TCC>TCG		Ras and Rab interactor 3							66.0	70.0	68.0					14																	93118018		2203	4300	6503	SO:0001819	synonymous_variant	79890				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	g.chr14:93118018C>G	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.624C>G	14.37:g.93118018C>G						RIN3_uc010auk.2_5'UTR|RIN3_uc001yaq.2_Silent_p.S133S|RIN3_uc001yar.1_5'UTR|RIN3_uc001yas.1_5'UTR	p.S208S	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN			6	776	+		all_cancers(154;0.0701)	208					Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Silent	SNP	ENST00000216487.7	37	c.624C>G	CCDS32144.1																																																																																				0.572	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1			17	65	0	0	0	0	17	65				
NPAP1	23742	broad.mit.edu	37	15	24923749	24923749	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr15:24923749G>T	ENST00000329468.2	+	1	3209	c.2735G>T	c.(2734-2736)aGt>aTt	p.S912I		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	912					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											AAGTCTGACAGTTCTTTTATT	0.488																																						uc001ywo.2		NA																	0				ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(2734-2736)AGT>ATT		hypothetical protein LOC23742							115.0	123.0	120.0					15																	24923749		2203	4300	6503	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24923749G>T	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.2735G>T	15.37:g.24923749G>T	ENSP00000333735:p.Ser912Ile						p.S912I	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	3209	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	912						Missense_Mutation	SNP	ENST00000329468.2	37	c.2735G>T	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	14.49	2.550746	0.45383	.	.	ENSG00000185823	ENST00000329468	T	0.08008	3.14	2.04	-2.42	0.06542	.	4.605520	0.00397	N	0.000045	T	0.05731	0.0150	L	0.39898	1.24	0.09310	N	1	P	0.43024	0.798	B	0.28385	0.089	T	0.33979	-0.9847	10	0.62326	D	0.03	.	3.0196	0.06071	0.394:0.2488:0.3572:0.0	.	912	Q9NZP6	CO002_HUMAN	I	912	ENSP00000333735:S912I	ENSP00000333735:S912I	S	+	2	0	C15orf2	22474842	0.000000	0.05858	0.000000	0.03702	0.608000	0.37181	-0.018000	0.12568	-0.597000	0.05813	0.313000	0.20887	AGT		0.488	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		42	114	1	0	1.07e-22	1.47e-22	42	114				
ATP10A	57194	broad.mit.edu	37	15	25940059	25940059	+	Missense_Mutation	SNP	G	G	A	rs147432497	byFrequency	TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr15:25940059G>A	ENST00000356865.6	-	14	3106	c.2995C>T	c.(2995-2997)Cgc>Tgc	p.R999C		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	999					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		AGGACGGAGCGGCACTGCTTG	0.597																																						uc010ayu.2		NA																	0				pancreas(2)|ovary(1)|breast(1)|liver(1)	5						c.(2995-2997)CGC>TGC		ATPase, class V, type 10A		G	CYS/ARG	0,4406		0,0,2203	80.0	77.0	78.0		2995	4.5	1.0	15	dbSNP_134	78	5,8595	4.3+/-15.6	0,5,4295	yes	missense	ATP10A	NM_024490.3	180	0,5,6498	AA,AG,GG		0.0581,0.0,0.0384	probably-damaging	999/1500	25940059	5,13001	2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25940059G>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2995C>T	15.37:g.25940059G>A	ENSP00000349325:p.Arg999Cys						p.R999C	NM_024490	NP_077816	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	14	3101	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	999			Cytoplasmic (Potential).		Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.2995C>T	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.334863	0.81801	0.0	5.81E-4	ENSG00000206190	ENST00000356865	T	0.68331	-0.32	5.43	4.52	0.55395	HAD-like domain (1);	0.048522	0.85682	D	0.000000	T	0.81019	0.4736	M	0.78344	2.41	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.82717	-0.0319	10	0.54805	T	0.06	-24.4256	14.0335	0.64632	0.0727:0.0:0.9273:0.0	.	999	O60312	AT10A_HUMAN	C	999	ENSP00000349325:R999C	ENSP00000349325:R999C	R	-	1	0	ATP10A	23491152	1.000000	0.71417	0.993000	0.49108	0.898000	0.52572	3.516000	0.53436	1.300000	0.44818	0.563000	0.77884	CGC		0.597	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		12	42	0	0	0	0	12	42				
ARHGAP11A	9824	broad.mit.edu	37	15	32921915	32921915	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr15:32921915G>T	ENST00000361627.3	+	8	1779	c.1057G>T	c.(1057-1059)Gag>Tag	p.E353*	ARHGAP11A_ENST00000567348.1_Nonsense_Mutation_p.E353*|ARHGAP11A_ENST00000563864.1_Nonsense_Mutation_p.E353*|ARHGAP11A_ENST00000565905.1_Nonsense_Mutation_p.E164*|ARHGAP11A_ENST00000543522.1_Nonsense_Mutation_p.E164*	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	353					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		TTTTAACTTTGAGCTGTTGCC	0.353																																					Colon(45;757 1134 30003 36652)	uc001zgy.1		NA																	0				skin(3)|breast(2)|urinary_tract(1)	6						c.(1057-1059)GAG>TAG		Rho GTPase activating protein 11A isoform 1							84.0	84.0	84.0					15																	32921915		2201	4300	6501	SO:0001587	stop_gained	9824				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr15:32921915G>T	D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"""Rho GTPase activating proteins"""	15783	protein-coding gene	gene with protein product	"""GAP (1-12)"""	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.1057G>T	15.37:g.32921915G>T	ENSP00000355090:p.Glu353*					ARHGAP11A_uc010ubw.1_Nonsense_Mutation_p.E164*|ARHGAP11A_uc001zgw.2_Nonsense_Mutation_p.E353*|ARHGAP11A_uc001zgx.2_Nonsense_Mutation_p.E353*|ARHGAP11A_uc010ubx.1_Nonsense_Mutation_p.E164*	p.E353*	NM_014783	NP_055598	Q6P4F7	RHGBA_HUMAN		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	8	1779	+		all_lung(180;1.3e-11)	353					B4DZN9|Q6PI96|Q9Y3S6	Nonsense_Mutation	SNP	ENST00000361627.3	37	c.1057G>T	CCDS10028.1	.	.	.	.	.	.	.	.	.	.	.	45	11.958314	0.99621	.	.	ENSG00000198826	ENST00000361627;ENST00000543522	.	.	.	5.66	5.66	0.87406	.	0.000000	0.56097	D	0.000031	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	19.7468	0.96255	0.0:0.0:1.0:0.0	.	.	.	.	X	353;164	.	ENSP00000355090:E353X	E	+	1	0	ARHGAP11A	30709207	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.035000	0.93752	2.678000	0.91216	0.563000	0.77884	GAG		0.353	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251417.1	NM_014783		11	33	1	0	1.09e-07	1.32e-07	11	33				
THBS1	7057	broad.mit.edu	37	15	39886511	39886511	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr15:39886511G>T	ENST00000260356.5	+	21	3540	c.3375G>T	c.(3373-3375)atG>atT	p.M1125I	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1125	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		GAGTGGTGATGTATGAAGGGA	0.388																																						uc001zkh.2		NA																	0				ovary(3)|central_nervous_system(3)	6						c.(3373-3375)ATG>ATT		thrombospondin 1 precursor	Becaplermin(DB00102)						114.0	111.0	112.0					15																	39886511		2200	4297	6497	SO:0001583	missense	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39886511G>T		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.3375G>T	15.37:g.39886511G>T	ENSP00000260356:p.Met1125Ile					THBS1_uc010bbi.2_Missense_Mutation_p.M597I	p.M1125I	NM_003246	NP_003237	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	21	3554	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	1125			TSP C-terminal.		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	c.3375G>T	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.176390	0.78564	.	.	ENSG00000137801	ENST00000260356	D	0.95137	-3.62	5.59	5.59	0.84812	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.000000	0.41938	D	0.000788	D	0.94221	0.8145	N	0.16862	0.45	0.80722	D	1	P;D	0.57571	0.725;0.98	P;D	0.74674	0.465;0.984	D	0.91599	0.5293	10	0.15952	T	0.53	-28.9281	19.9253	0.97100	0.0:0.0:1.0:0.0	.	1040;1125	B4E3J7;P07996	.;TSP1_HUMAN	I	1125	ENSP00000260356:M1125I	ENSP00000260356:M1125I	M	+	3	0	THBS1	37673803	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.786000	0.95864	0.591000	0.81541	ATG		0.388	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		23	40	1	0	1.87e-06	2.2e-06	23	40				
DLL4	54567	broad.mit.edu	37	15	41228746	41228746	+	Missense_Mutation	SNP	G	G	A	rs189323864	byFrequency	TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr15:41228746G>A	ENST00000249749.5	+	9	1837	c.1561G>A	c.(1561-1563)Gtg>Atg	p.V521M		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	521					angiogenesis (GO:0001525)|blood circulation (GO:0008015)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac atrium morphogenesis (GO:0003209)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|dorsal aorta morphogenesis (GO:0035912)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of neural precursor cell proliferation (GO:2000179)|regulation of neural retina development (GO:0061074)|regulation of neurogenesis (GO:0050767)|signal transduction (GO:0007165)|ventral spinal cord interneuron fate commitment (GO:0060579)|ventricular trabecula myocardium morphogenesis (GO:0003222)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CGAGTTCCCCGTGGGCTTGCC	0.652													G|||	14	0.00279553	0.0	0.0	5008	,	,		15251	0.0129		0.001	False		,,,				2504	0.0					uc001zng.1		NA																	0				breast(2)	2						c.(1561-1563)GTG>ATG		delta-like 4 protein precursor																																				SO:0001583	missense	54567				blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding	g.chr15:41228746G>A	AF253468	CCDS45232.1	15q14	2008-07-03	2001-12-03			ENSG00000128917			2910	protein-coding gene	gene with protein product		605185	"""delta-like 4 homolog (Drosophila)"""			10837024	Standard	NM_019074		Approved		uc001zng.2	Q9NR61		ENST00000249749.5:c.1561G>A	15.37:g.41228746G>A	ENSP00000249749:p.Val521Met						p.V521M	NM_019074	NP_061947	Q9NR61	DLL4_HUMAN		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)	9	1881	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	521			Extracellular (Potential).		Q3KP23|Q9NQT9	Missense_Mutation	SNP	ENST00000249749.5	37	c.1561G>A	CCDS45232.1	7	0.003205128205128205	0	0.0	0	0.0	7	0.012237762237762238	0	0.0	G	10.20	1.285887	0.23478	.	.	ENSG00000128917	ENST00000249749	D	0.88354	-2.37	6.06	-3.64	0.04515	.	0.795993	0.12145	N	0.495444	T	0.75503	0.3858	L	0.39633	1.23	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.65606	-0.6127	10	0.59425	D	0.04	.	7.612	0.28135	0.525:0.0:0.3672:0.1078	.	521	Q9NR61	DLL4_HUMAN	M	521	ENSP00000249749:V521M	ENSP00000249749:V521M	V	+	1	0	DLL4	39016038	0.067000	0.21026	0.004000	0.12327	0.461000	0.32589	0.346000	0.19997	-0.670000	0.05282	-0.355000	0.07637	GTG		0.652	DLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418859.1			7	13	0	0	0	0	7	13				
LTK	4058	broad.mit.edu	37	15	41804997	41804997	+	Silent	SNP	C	C	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr15:41804997C>T	ENST00000263800.6	-	3	363	c.267G>A	c.(265-267)gcG>gcA	p.A89A	LTK_ENST00000355166.5_Silent_p.A89A|LTK_ENST00000561619.1_Intron|LTK_ENST00000453182.2_Silent_p.A89A	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	89					cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		TCCCCGCGTACGCCCCGTCAC	0.692										TSP Lung(18;0.14)																												uc001zoa.3		NA																	0				lung(6)|central_nervous_system(1)	7						c.(265-267)GCG>GCA		leukocyte receptor tyrosine kinase isoform 1							14.0	15.0	15.0					15																	41804997		2194	4281	6475	SO:0001819	synonymous_variant	4058				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:41804997C>T	D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"""leukocyte tyrosine kinase"""			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.267G>A	15.37:g.41804997C>T		TSP Lung(18;0.14)				LTK_uc001zob.3_Silent_p.A89A|LTK_uc010ucx.1_Silent_p.A89A|LTK_uc010bcg.2_Intron	p.A89A	NM_002344	NP_002335	P29376	LTK_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)	3	445	-		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)	89			Extracellular (Potential).		A6NNJ8|B4DL89|E9PFX4	Silent	SNP	ENST00000263800.6	37	c.267G>A	CCDS10077.1																																																																																				0.692	LTK-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252690.2			5	26	0	0	0	0	5	26				
ADAL	161823	broad.mit.edu	37	15	43638089	43638089	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr15:43638089G>A	ENST00000562188.1	+	6	479	c.463G>A	c.(463-465)Gta>Ata	p.V155I	ADAL_ENST00000422466.2_Missense_Mutation_p.V155I|ADAL_ENST00000428046.3_Missense_Mutation_p.V155I|ADAL_ENST00000389651.4_Missense_Mutation_p.V155I			Q6DHV7	ADAL_HUMAN	adenosine deaminase-like	155					adenosine catabolic process (GO:0006154)|drug metabolic process (GO:0017144)|inosine biosynthetic process (GO:0046103)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	adenosine deaminase activity (GO:0004000)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)	7		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;9.31e-07)		TGGCCCTTTAGTAGCCAAGGA	0.408																																						uc010udo.1		NA																	0					0						c.(463-465)GTA>ATA		adenosine deaminase-like isoform 1							135.0	130.0	132.0					15																	43638089		2201	4299	6500	SO:0001583	missense	161823				adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process		adenosine deaminase activity|metal ion binding	g.chr15:43638089G>A		CCDS32214.1, CCDS53936.1	15q15.3	2014-08-08			ENSG00000168803	ENSG00000168803			31853	protein-coding gene	gene with protein product							Standard	NM_001012969		Approved		uc010udo.2	Q6DHV7	OTTHUMG00000176646	ENST00000562188.1:c.463G>A	15.37:g.43638089G>A	ENSP00000456242:p.Val155Ile					ADAL_uc001zrh.2_Missense_Mutation_p.V155I|ADAL_uc001zri.1_Missense_Mutation_p.V40I	p.V155I	NM_001159280	NP_001152752	Q6DHV7	ADAL_HUMAN		GBM - Glioblastoma multiforme(94;9.31e-07)	9	1037	+		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)	155					A6NHZ3|B4DQM8	Missense_Mutation	SNP	ENST00000562188.1	37	c.463G>A		.	.	.	.	.	.	.	.	.	.	G	15.86	2.957164	0.53293	.	.	ENSG00000168803	ENST00000422466;ENST00000428046;ENST00000389651	D;D;D	0.94966	-3.57;-3.57;-3.57	5.87	4.95	0.65309	Adenosine/AMP deaminase (1);	0.336546	0.34959	N	0.003558	D	0.93562	0.7945	M	0.77103	2.36	0.38674	D	0.95237	B;B;B	0.15719	0.003;0.014;0.011	B;B;B	0.18871	0.02;0.016;0.023	D	0.91843	0.5485	10	0.35671	T	0.21	-4.2854	13.5623	0.61797	0.0764:0.0:0.9236:0.0	.	155;155;155	B4DQM8;Q6DHV7;Q6DHV7-2	.;ADAL_HUMAN;.	I	155	ENSP00000398744:V155I;ENSP00000413074:V155I;ENSP00000374302:V155I	ENSP00000374302:V155I	V	+	1	0	ADAL	41425381	1.000000	0.71417	0.639000	0.29394	0.938000	0.57974	7.377000	0.79668	1.596000	0.50062	0.655000	0.94253	GTA		0.408	ADAL-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432960.1	XM_091156		28	49	0	0	0	0	28	49				
SPG11	80208	broad.mit.edu	37	15	44890998	44890998	+	Silent	SNP	C	C	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr15:44890998C>A	ENST00000261866.7	-	22	3739	c.3723G>T	c.(3721-3723)ggG>ggT	p.G1241G	SPG11_ENST00000535302.2_Silent_p.G1241G|SPG11_ENST00000558319.1_Silent_p.G1241G|SPG11_ENST00000427534.2_Silent_p.G1241G	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1241					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		AGGAGGAGAGCCCTATAACAT	0.418																																						uc001ztx.2		NA																	0				ovary(4)|skin(1)	5						c.(3721-3723)GGG>GGT		spatacsin isoform 1							99.0	88.0	91.0					15																	44890998		2198	4298	6496	SO:0001819	synonymous_variant	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44890998C>A		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.3723G>T	15.37:g.44890998C>A						SPG11_uc010ueh.1_Silent_p.G1241G|SPG11_uc010uei.1_Silent_p.G1241G|SPG11_uc001zty.1_5'UTR	p.G1241G	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	22	3754	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	1241			Helical; (Potential).		A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Silent	SNP	ENST00000261866.7	37	c.3723G>T	CCDS10112.1																																																																																				0.418	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			18	37	1	0	3.41e-10	4.38e-10	18	37				
HERC1	8925	broad.mit.edu	37	15	63986610	63986610	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr15:63986610T>A	ENST00000443617.2	-	29	5468	c.5381A>T	c.(5380-5382)cAg>cTg	p.Q1794L	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1794					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CTGCAGGGGCTGTCCTAGCAT	0.473																																						uc002amp.2		NA																	0				ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						c.(5380-5382)CAG>CTG		hect domain and RCC1-like domain 1							84.0	81.0	82.0					15																	63986610		1951	4140	6091	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63986610T>A	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.5381A>T	15.37:g.63986610T>A	ENSP00000390158:p.Gln1794Leu						p.Q1794L	NM_003922	NP_003913	Q15751	HERC1_HUMAN			29	5529	-			1794					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.5381A>T	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	T	19.28	3.796742	0.70567	.	.	ENSG00000103657	ENST00000443617	T	0.54071	0.59	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000001	T	0.60612	0.2282	L	0.27053	0.805	0.80722	D	1	D	0.54601	0.967	D	0.65140	0.932	T	0.64424	-0.6411	10	0.72032	D	0.01	.	16.3662	0.83325	0.0:0.0:0.0:1.0	.	1794	Q15751	HERC1_HUMAN	L	1794	ENSP00000390158:Q1794L	ENSP00000390158:Q1794L	Q	-	2	0	HERC1	61773663	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.928000	0.87587	2.274000	0.75844	0.533000	0.62120	CAG		0.473	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		18	40	0	0	0	0	18	40				
IGDCC3	9543	broad.mit.edu	37	15	65667661	65667661	+	Silent	SNP	C	C	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr15:65667661C>A	ENST00000327987.4	-	2	434	c.183G>T	c.(181-183)ctG>ctT	p.L61L		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	61	Ig-like C2-type 1.				neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCCTGCAGTCCAGCACTATAG	0.592																																						uc002aos.2		NA																	0				ovary(3)	3						c.(181-183)CTG>CTT		putative neuronal cell adhesion molecule							50.0	39.0	43.0					15																	65667661		2201	4299	6500	SO:0001819	synonymous_variant	9543							g.chr15:65667661C>A	AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9700	protein-coding gene	gene with protein product		604184	"""putative neuronal cell adhesion molecule"""	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.183G>T	15.37:g.65667661C>A							p.L61L	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN			2	435	-			61			Extracellular (Potential).|Ig-like C2-type 1.		O95215	Silent	SNP	ENST00000327987.4	37	c.183G>T	CCDS10205.1																																																																																				0.592	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884		9	28	1	0	3.07e-06	3.57e-06	9	28				
MAP2K5	5607	broad.mit.edu	37	15	67873104	67873104	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr15:67873104G>T	ENST00000178640.5	+	4	892	c.265G>T	c.(265-267)Gta>Tta	p.V89L	MAP2K5_ENST00000560591.1_3'UTR|MAP2K5_ENST00000395476.2_Missense_Mutation_p.V89L|MAP2K5_ENST00000354498.5_Missense_Mutation_p.V53L	NM_145160.2	NP_660143.1	Q13163	MP2K5_HUMAN	mitogen-activated protein kinase kinase 5	89	OPR.				activation of MAPK activity (GO:0000187)|cellular response to growth factor stimulus (GO:0071363)|cellular response to laminar fluid shear stress (GO:0071499)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000342)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						TTATTCCACAGTAATGGAACA	0.333																																						uc002aqu.2		NA																	0				lung(2)	2						c.(265-267)GTA>TTA		mitogen-activated protein kinase kinase 5							136.0	138.0	138.0					15																	67873104		2201	4296	6497	SO:0001583	missense	5607				nerve growth factor receptor signaling pathway		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr15:67873104G>T	U25265	CCDS10224.1, CCDS42051.1, CCDS55970.1	15q22.31	2011-06-09			ENSG00000137764	ENSG00000137764		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6845	protein-coding gene	gene with protein product		602520		PRKMK5		7759517	Standard	NM_002757		Approved	MEK5, MAPKK5, HsT17454	uc002aqu.3	Q13163	OTTHUMG00000133264	ENST00000178640.5:c.265G>T	15.37:g.67873104G>T	ENSP00000178640:p.Val89Leu					MAP2K5_uc002aqt.1_Missense_Mutation_p.V89L|MAP2K5_uc002aqv.2_Missense_Mutation_p.V89L|MAP2K5_uc010ujw.1_Missense_Mutation_p.V53L	p.V89L	NM_145160	NP_660143	Q13163	MP2K5_HUMAN			4	918	+			89			OPR.		B4DE43|Q92961|Q92962	Missense_Mutation	SNP	ENST00000178640.5	37	c.265G>T	CCDS10224.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.250454	0.39797	.	.	ENSG00000137764	ENST00000541298;ENST00000395476;ENST00000178640;ENST00000354498;ENST00000439036	T;T;T;T	0.71222	-0.36;-0.55;-0.53;0.95	5.82	4.91	0.64330	Phox/Bem1p (1);	0.166361	0.53938	D	0.000046	T	0.57213	0.2038	N	0.19112	0.55	0.80722	D	1	B;B;B;B	0.14438	0.004;0.008;0.004;0.01	B;B;B;B	0.10450	0.002;0.003;0.004;0.005	T	0.52351	-0.8587	10	0.37606	T	0.19	-12.3226	14.9483	0.71050	0.0684:0.0:0.9316:0.0	.	53;89;89;89	B4DE43;Q13163-2;Q13163;B2RD76	.;.;MP2K5_HUMAN;.	L	89;89;89;53;22	ENSP00000378859:V89L;ENSP00000178640:V89L;ENSP00000346493:V53L;ENSP00000390196:V22L	ENSP00000178640:V89L	V	+	1	0	MAP2K5	65660158	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.613000	0.54152	1.475000	0.48197	0.563000	0.77884	GTA		0.333	MAP2K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257041.1	NM_145162		22	54	1	0	4.48e-21	6.1e-21	22	54				
ARNT2	9915	broad.mit.edu	37	15	80867386	80867386	+	Missense_Mutation	SNP	C	C	T	rs370262135		TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr15:80867386C>T	ENST00000303329.4	+	14	1613	c.1448C>T	c.(1447-1449)gCg>gTg	p.A483V	ARNT2_ENST00000527771.1_Missense_Mutation_p.A472V|ARNT2_ENST00000533983.1_Missense_Mutation_p.A472V	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	483					central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			GTGGAAAAGGCGGATGCAATC	0.473																																						uc002bfr.2		NA																	0				central_nervous_system(3)|ovary(1)|pancreas(1)	5						c.(1447-1449)GCG>GTG		aryl hydrocarbon receptor nuclear translocator		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	185.0	180.0	182.0		1448	4.3	0.9	15		182	2,8598	2.2+/-6.3	0,2,4298	no	missense	ARNT2	NM_014862.3	64	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign	483/718	80867386	3,13003	2203	4300	6503	SO:0001583	missense	9915				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr15:80867386C>T	AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"""Basic helix-loop-helix proteins"""	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.1448C>T	15.37:g.80867386C>T	ENSP00000307479:p.Ala483Val					ARNT2_uc010unm.1_Missense_Mutation_p.A472V|ARNT2_uc002bfs.2_Missense_Mutation_p.A472V	p.A483V	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.134)		14	1614	+			483					B4DIS7|O15024|Q8IYC2	Missense_Mutation	SNP	ENST00000303329.4	37	c.1448C>T	CCDS32307.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.358890	0.61403	2.27E-4	2.33E-4	ENSG00000172379	ENST00000360062;ENST00000303329;ENST00000540859	T	0.06768	3.26	5.24	4.31	0.51392	.	0.791425	0.11863	N	0.522154	T	0.06508	0.0167	N	0.24115	0.695	0.39108	D	0.961426	P	0.40476	0.718	B	0.29440	0.102	T	0.42599	-0.9442	10	0.46703	T	0.11	.	15.7313	0.77807	0.0:0.8631:0.1369:0.0	.	483	Q9HBZ2	ARNT2_HUMAN	V	472;483;483	ENSP00000307479:A483V	ENSP00000307479:A483V	A	+	2	0	ARNT2	78654441	1.000000	0.71417	0.896000	0.35187	0.810000	0.45777	5.331000	0.65905	1.166000	0.42689	0.655000	0.94253	GCG		0.473	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2			5	131	0	0	0	0	5	131				
SH3GL3	6457	broad.mit.edu	37	15	84255793	84255793	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr15:84255793A>T	ENST00000427482.2	+	7	989	c.683A>T	c.(682-684)cAg>cTg	p.Q228L	SH3GL3_ENST00000434347.1_Missense_Mutation_p.Q236L|SH3GL3_ENST00000324537.5_Missense_Mutation_p.Q236L|SH3GL3_ENST00000535412.1_Missense_Mutation_p.Q228L	NM_003027.3	NP_003018.3	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	228	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.|Interaction with ARC. {ECO:0000250}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						TATCACAGACAGTCCACAGAG	0.502																																						uc002bjw.2		NA																	0				pancreas(1)|central_nervous_system(1)|skin(1)	3						c.(682-684)CAG>CTG		SH3-domain GRB2-like 3							71.0	61.0	64.0					15																	84255793		2203	4300	6503	SO:0001583	missense	6457				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding	g.chr15:84255793A>T	AF036271	CCDS10325.2, CCDS73772.1	15q24	2006-11-24			ENSG00000140600	ENSG00000140600			10832	protein-coding gene	gene with protein product		603362				9169142	Standard	NR_026799		Approved	SH3D2C, SH3P13, CNSA3, EEN-B2, HsT19371	uc002bjw.3	Q99963	OTTHUMG00000147361	ENST00000427482.2:c.683A>T	15.37:g.84255793A>T	ENSP00000391372:p.Gln228Leu					SH3GL3_uc010uot.1_Missense_Mutation_p.Q228L|SH3GL3_uc002bjx.2_Missense_Mutation_p.Q159L|SH3GL3_uc002bju.2_Missense_Mutation_p.Q236L|SH3GL3_uc002bjv.2_RNA	p.Q228L	NM_003027	NP_003018	Q99963	SH3G3_HUMAN			7	878	+			228			BAR.|Interaction with ARC (By similarity).		O43553|O43554	Missense_Mutation	SNP	ENST00000427482.2	37	c.683A>T	CCDS10325.2	.	.	.	.	.	.	.	.	.	.	A	17.73	3.460855	0.63513	.	.	ENSG00000140600	ENST00000427482;ENST00000535412;ENST00000324537;ENST00000434347	T;T;T;T	0.34859	1.34;1.34;1.34;1.34	5.83	5.83	0.93111	BAR (3);	0.133058	0.53938	D	0.000045	T	0.66436	0.2789	M	0.88241	2.94	0.80722	D	1	D;B;P	0.89917	1.0;0.275;0.464	D;B;B	0.83275	0.996;0.148;0.103	T	0.72843	-0.4170	10	0.62326	D	0.03	-16.6902	15.0284	0.71687	1.0:0.0:0.0:0.0	.	228;228;236	Q8IVP1;Q99963;Q99963-3	.;SH3G3_HUMAN;.	L	228;228;236;236	ENSP00000391372:Q228L;ENSP00000439239:Q228L;ENSP00000320092:Q236L;ENSP00000397871:Q236L	ENSP00000320092:Q236L	Q	+	2	0	SH3GL3	82046797	1.000000	0.71417	0.834000	0.33040	0.777000	0.43975	6.645000	0.74343	2.226000	0.72624	0.460000	0.39030	CAG		0.502	SH3GL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347797.1	NM_003027		5	17	0	0	0	0	5	17				
ADAMTSL3	57188	broad.mit.edu	37	15	84506852	84506852	+	Nonsense_Mutation	SNP	C	C	A	rs538714996		TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr15:84506852C>A	ENST00000286744.5	+	7	836	c.612C>A	c.(610-612)tgC>tgA	p.C204*	ADAMTSL3_ENST00000567476.1_Nonsense_Mutation_p.C204*	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	204						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CAGTGGGCTGCGATCGGCAAC	0.567																																						uc002bjz.3		NA																	0				ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27						c.(610-612)TGC>TGA		ADAMTS-like 3 precursor							70.0	66.0	67.0					15																	84506852		2203	4300	6503	SO:0001587	stop_gained	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84506852C>A	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.612C>A	15.37:g.84506852C>A	ENSP00000286744:p.Cys204*					ADAMTSL3_uc002bjy.1_Nonsense_Mutation_p.C204*|ADAMTSL3_uc010bmt.1_Nonsense_Mutation_p.C204*|ADAMTSL3_uc010bmu.1_Nonsense_Mutation_p.C204*	p.C204*	NM_207517	NP_997400	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		7	836	+			204					A1A566|A1A567|Q9ULI7	Nonsense_Mutation	SNP	ENST00000286744.5	37	c.612C>A	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.436678	0.83885	.	.	ENSG00000156218	ENST00000286744	.	.	.	5.5	-8.58	0.00897	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.8423	0.92189	0.0:0.3623:0.0:0.6377	.	.	.	.	X	204	.	ENSP00000286744:C204X	C	+	3	2	ADAMTSL3	82297856	0.128000	0.22383	0.098000	0.21074	0.650000	0.38633	-0.640000	0.05440	-1.925000	0.01063	-0.961000	0.02630	TGC		0.567	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		15	62	1	0	3.27e-08	4.03e-08	15	62				
AXIN1	8312	broad.mit.edu	37	16	339603	339603	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr16:339603T>C	ENST00000262320.3	-	10	2670	c.2299A>G	c.(2299-2301)Aga>Gga	p.R767G	AXIN1_ENST00000354866.3_Missense_Mutation_p.R731G	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	767	Interaction with PPP2CA.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CTCTGCGATCTTGTCCTGGGG	0.637																																						uc002cgp.1		NA																	0				breast(1)|liver(1)	2						c.(2299-2301)AGA>GGA		axin 1 isoform a							42.0	40.0	41.0					16																	339603		2199	4299	6498	SO:0001583	missense	8312				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr16:339603T>C	AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	903	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 49"""	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.2299A>G	16.37:g.339603T>C	ENSP00000262320:p.Arg767Gly					AXIN1_uc002cgq.1_Missense_Mutation_p.R731G	p.R767G	NM_003502	NP_003493	O15169	AXIN1_HUMAN			10	2476	-		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)	767			Interaction with PPP2CA.		Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Missense_Mutation	SNP	ENST00000262320.3	37	c.2299A>G	CCDS10405.1	.	.	.	.	.	.	.	.	.	.	T	15.39	2.820788	0.50633	.	.	ENSG00000103126	ENST00000262320;ENST00000354866	T;T	0.61274	0.2;0.12	4.44	4.44	0.53790	.	0.121441	0.52532	D	0.000075	T	0.38295	0.1035	N	0.08118	0	0.09310	N	1	B;B	0.19445	0.027;0.036	B;B	0.20577	0.03;0.021	T	0.41662	-0.9496	10	0.72032	D	0.01	-10.4653	12.8746	0.57984	0.0:0.0:0.0:1.0	.	731;767	O15169-2;O15169	.;AXIN1_HUMAN	G	767;731	ENSP00000262320:R767G;ENSP00000346935:R731G	ENSP00000262320:R767G	R	-	1	2	AXIN1	279604	0.999000	0.42202	0.004000	0.12327	0.007000	0.05969	3.966000	0.56795	1.659000	0.50751	0.260000	0.18958	AGA		0.637	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3			8	28	0	0	0	0	8	28				
MAPK8IP3	23162	broad.mit.edu	37	16	1818367	1818367	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr16:1818367G>T	ENST00000250894.4	+	30	3884	c.3727G>T	c.(3727-3729)Gtc>Ttc	p.V1243F	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.V1237F	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	1243					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						GAAGTTCTTTGTCTCGGTGCC	0.652																																						uc002cmk.2		NA																	0				breast(2)|central_nervous_system(1)	3						c.(3727-3729)GTC>TTC		mitogen-activated protein kinase 8 interacting							46.0	51.0	49.0					16																	1818367		2136	4248	6384	SO:0001583	missense	23162				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	g.chr16:1818367G>T	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.3727G>T	16.37:g.1818367G>T	ENSP00000250894:p.Val1243Phe					MAPK8IP3_uc002cml.2_Missense_Mutation_p.V1237F|MAPK8IP3_uc010uvl.1_Missense_Mutation_p.V1244F	p.V1243F	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN			30	3847	+			1243					A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	37	c.3727G>T	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	G	16.54	3.151159	0.57151	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.42900	0.96;0.97	4.46	3.42	0.39159	.	0.000000	0.64402	D	0.000001	T	0.63260	0.2496	M	0.76838	2.35	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.85130	0.979;0.991;0.997	T	0.69176	-0.5214	10	0.87932	D	0	-34.3691	12.7413	0.57255	0.0:0.0:0.8349:0.1651	.	1244;1237;1243	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	F	1243;1237	ENSP00000250894:V1243F;ENSP00000348290:V1237F	ENSP00000250894:V1243F	V	+	1	0	MAPK8IP3	1758368	1.000000	0.71417	0.876000	0.34364	0.785000	0.44390	5.992000	0.70609	2.037000	0.60232	0.462000	0.41574	GTC		0.652	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	NM_001040439		27	60	1	0	1.55e-18	2.1e-18	27	60				
E4F1	1877	broad.mit.edu	37	16	2273689	2273689	+	Silent	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr16:2273689G>A	ENST00000301727.4	+	1	123	c.75G>A	c.(73-75)gcG>gcA	p.A25A	E4F1_ENST00000564139.1_Silent_p.A25A|E4F1_ENST00000565090.1_Silent_p.A25A	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	25					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|mitotic cell cycle arrest (GO:0071850)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell cycle process (GO:0010564)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle, embryonic (GO:0009794)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			ovary(1)	1						GGCGGGAAGCGGGCGAGGGTG	0.741																																						uc002cpm.2		NA																	0				ovary(1)	1						c.(73-75)GCG>GCA		p120E4F							11.0	15.0	14.0					16																	2273689		2169	4265	6434	SO:0001819	synonymous_variant	1877				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr16:2273689G>A	U87269	CCDS32370.1, CCDS73809.1, CCDS73810.1	16p13.3	2013-01-08				ENSG00000167967		"""Zinc fingers, C2H2-type"""	3121	protein-coding gene	gene with protein product		603022				9763670, 8828041	Standard	XM_005255155		Approved	E4F	uc002cpm.3	Q66K89		ENST00000301727.4:c.75G>A	16.37:g.2273689G>A						E4F1_uc010bsi.2_Silent_p.A25A|E4F1_uc010bsj.2_Silent_p.A25A	p.A25A	NM_004424	NP_004415	Q66K89	E4F1_HUMAN			1	123	+			25					A8K2R4|O00146	Silent	SNP	ENST00000301727.4	37	c.75G>A	CCDS32370.1																																																																																				0.741	E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435225.1	NM_004424		4	18	0	0	0	0	4	18				
ABCA3	21	broad.mit.edu	37	16	2333222	2333222	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr16:2333222C>A	ENST00000301732.5	-	26	4700	c.4000G>T	c.(4000-4002)Ggc>Tgc	p.G1334C	ABCA3_ENST00000382381.3_Missense_Mutation_p.G1276C	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1334					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	CAGAGGATGCCCCTGAGTCTC	0.672																																						uc002cpy.1		NA																	0				breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16						c.(4000-4002)GGC>TGC		ATP-binding cassette, sub-family A member 3							43.0	48.0	46.0					16																	2333222		2198	4300	6498	SO:0001583	missense	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2333222C>A	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.4000G>T	16.37:g.2333222C>A	ENSP00000301732:p.Gly1334Cys					ABCA3_uc010bsk.1_Missense_Mutation_p.G1276C	p.G1334C	NM_001089	NP_001080	Q99758	ABCA3_HUMAN			26	4712	-		Ovarian(90;0.17)	1334					B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	c.4000G>T	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.464521	0.26335	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.90676	-2.71	5.78	-1.71	0.08133	.	0.713570	0.14643	N	0.307073	T	0.68869	0.3048	N	0.02539	-0.55	0.09310	N	1	B;B	0.34147	0.438;0.0	B;B	0.22880	0.042;0.001	T	0.64334	-0.6432	10	0.38643	T	0.18	.	5.8848	0.18876	0.1153:0.2926:0.0:0.5921	.	1338;1334	Q4LE27;Q99758	.;ABCA3_HUMAN	C	1334;1338	ENSP00000301732:G1334C	ENSP00000301732:G1334C	G	-	1	0	ABCA3	2273223	0.016000	0.18221	0.000000	0.03702	0.001000	0.01503	0.569000	0.23638	-0.443000	0.07180	-1.119000	0.02030	GGC		0.672	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		23	39	1	0	3.88e-16	5.17e-16	23	39				
SRL	6345	broad.mit.edu	37	16	4242554	4242554	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr16:4242554C>G	ENST00000399609.3	-	6	1034	c.1022G>C	c.(1021-1023)cGc>cCc	p.R341P	SRL_ENST00000537996.1_Missense_Mutation_p.R299P	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	800	Acidic domain, probably binds calcium. {ECO:0000250}.					sarcoplasmic reticulum (GO:0016529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R341H(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						GGCGTGGATGCGGACCCGGAT	0.512																																						uc002cvz.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(1021-1023)CGC>CCC		sarcalumenin							129.0	138.0	135.0					16																	4242554		2120	4235	6355	SO:0001583	missense	6345					sarcoplasmic reticulum lumen	GTP binding|GTPase activity	g.chr16:4242554C>G	AK056588	CCDS42113.1	16p13.3	2008-02-05				ENSG00000185739			11295	protein-coding gene	gene with protein product		604992				2762314	Standard	NM_001098814		Approved		uc002cvz.4	Q86TD4		ENST00000399609.3:c.1022G>C	16.37:g.4242554C>G	ENSP00000382518:p.Arg341Pro					SRL_uc002cvy.3_RNA	p.R341P	NM_001098814	NP_001092284	Q86TD4	SRCA_HUMAN			6	1035	-			800						Missense_Mutation	SNP	ENST00000399609.3	37	c.1022G>C	CCDS42113.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.714611	0.89112	.	.	ENSG00000185739	ENST00000399609;ENST00000330063;ENST00000537996	D;D	0.85629	-2.01;-2.01	5.97	5.97	0.96955	.	0.000000	0.85682	U	0.000000	D	0.92958	0.7759	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92826	0.6276	10	0.87932	D	0	-11.4353	20.4239	0.99064	0.0:1.0:0.0:0.0	.	341	Q86TD4-2	.	P	341;799;299	ENSP00000382518:R341P;ENSP00000440350:R299P	ENSP00000333285:R799P	R	-	2	0	SRL	4182555	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.818000	0.86416	2.828000	0.97474	0.655000	0.94253	CGC		0.512	SRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438087.1	XM_064152		45	138	0	0	0	0	45	138				
FAM86A	196483	broad.mit.edu	37	16	5143491	5143491	+	Silent	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr16:5143491G>T	ENST00000427587.4	-	3	302	c.234C>A	c.(232-234)atC>atA	p.I78I	FAM86A_ENST00000587133.1_Intron|FAM86A_ENST00000458008.4_Silent_p.I78I	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	78						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						TGACCTTTTTGATGAGTTCTG	0.577																																						uc002cyo.2		NA																	0					0						c.(232-234)ATC>ATA		hypothetical protein LOC196483 isoform 1							52.0	50.0	51.0					16																	5143491		2197	4299	6496	SO:0001819	synonymous_variant	196483							g.chr16:5143491G>T	BC010084	CCDS10529.1, CCDS10530.1, CCDS73823.1	16p13.3	2012-11-07			ENSG00000118894	ENSG00000118894			32221	protein-coding gene	gene with protein product		615263					Standard	NM_201400		Approved	SB153, MGC19636	uc002cyo.2	Q96G04	OTTHUMG00000129527	ENST00000427587.4:c.234C>A	16.37:g.5143491G>T						FAM86A_uc002cyp.2_Silent_p.I78I	p.I78I	NM_201400	NP_958802	Q96G04	FA86A_HUMAN			3	283	-			78					D3DUF0|Q96S85	Silent	SNP	ENST00000427587.4	37	c.234C>A	CCDS10529.1																																																																																				0.577	FAM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251713.1	NM_201400		9	43	1	0	2.74e-10	3.53e-10	9	43				
RBBP6	5930	broad.mit.edu	37	16	24567192	24567192	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr16:24567192G>A	ENST00000319715.4	+	6	920	c.488G>A	c.(487-489)cGt>cAt	p.R163H	RBBP6_ENST00000348022.2_Missense_Mutation_p.R163H|RBBP6_ENST00000381039.3_Missense_Mutation_p.R163H	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	163					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		ACGTGTTTCCGTTGTGGTAAA	0.358																																						uc002dmh.2		NA																	0				ovary(3)|pancreas(1)	4						c.(487-489)CGT>CAT		retinoblastoma-binding protein 6 isoform 1							80.0	78.0	79.0					16																	24567192		2197	4300	6497	SO:0001583	missense	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24567192G>A		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.488G>A	16.37:g.24567192G>A	ENSP00000317872:p.Arg163His					RBBP6_uc010vcb.1_Missense_Mutation_p.R30H|RBBP6_uc002dmi.2_Missense_Mutation_p.R163H|RBBP6_uc010bxr.2_Missense_Mutation_p.R163H|RBBP6_uc002dmk.2_Missense_Mutation_p.R30H	p.R163H	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	6	1528	+			163			CCHC-type.		Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	37	c.488G>A	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	G	36	5.715640	0.96830	.	.	ENSG00000122257	ENST00000381039;ENST00000319715;ENST00000348022	T;T;T	0.76578	-1.03;-1.03;-1.03	5.91	5.91	0.95273	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (3);	0.000000	0.85682	D	0.000000	D	0.89417	0.6709	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.89527	0.3782	10	0.72032	D	0.01	-11.924	20.3011	0.98612	0.0:0.0:1.0:0.0	.	163;163;163	Q7Z6E9-4;Q7Z6E9-2;Q7Z6E9	.;.;RBBP6_HUMAN	H	163	ENSP00000370427:R163H;ENSP00000317872:R163H;ENSP00000316291:R163H	ENSP00000317872:R163H	R	+	2	0	RBBP6	24474693	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	9.869000	0.99810	2.804000	0.96469	0.650000	0.86243	CGT		0.358	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		10	19	0	0	0	0	10	19				
CDIPT	10423	broad.mit.edu	37	16	29872572	29872572	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr16:29872572A>T	ENST00000219789.6	-	3	1065	c.187T>A	c.(187-189)Ttt>Att	p.F63I	CDIPT_ENST00000566113.1_Missense_Mutation_p.F18I|CDIPT_ENST00000567459.1_5'Flank|CDIPT_ENST00000570016.1_Missense_Mutation_p.F63I|CDIPT_ENST00000563415.1_Missense_Mutation_p.F63I|CDIPT_ENST00000569956.1_Missense_Mutation_p.F63I|CDIPT-AS1_ENST00000565014.1_RNA|CDIPT_ENST00000561555.1_Missense_Mutation_p.F87I|CDIPT-AS1_ENST00000398859.3_RNA	NM_006319.3	NP_006310.1	O14735	CDIPT_HUMAN	CDP-diacylglycerol--inositol 3-phosphatidyltransferase	63					CDP-diacylglycerol metabolic process (GO:0046341)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alcohol binding (GO:0043178)|carbohydrate binding (GO:0030246)|CDP-diacylglycerol-inositol 3-phosphatidyltransferase activity (GO:0003881)|diacylglycerol binding (GO:0019992)|manganese ion binding (GO:0030145)			endometrium(1)|lung(3)	4						ATGGCCCCAAACCGGGTTCCT	0.562																																						uc002dum.2		NA																	0					0						c.(187-189)TTT>ATT		CDP-diacylglycerol-inositol							70.0	61.0	64.0					16																	29872572		2197	4300	6497	SO:0001583	missense	10423					endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	CDP-diacylglycerol-inositol 3-phosphatidyltransferase activity|phosphatidylinositol transporter activity	g.chr16:29872572A>T	AF014807	CCDS10657.1, CCDS67002.1	16p11.2	2012-11-19	2010-04-29		ENSG00000103502	ENSG00000103502	2.7.8.11		1769	protein-coding gene	gene with protein product	"""phosphatidylinositol synthase"""	605893	"""CDP-diacylglycerol--inositol 3-phosphatidyltransferase (phosphatidylinositol synthase)"""			9407135	Standard	NM_006319		Approved	PIS1, PIS	uc002dum.3	O14735	OTTHUMG00000177144	ENST00000219789.6:c.187T>A	16.37:g.29872572A>T	ENSP00000219789:p.Phe63Ile					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|CDIPT_uc002duk.2_Missense_Mutation_p.F87I|CDIPT_uc002dul.2_Missense_Mutation_p.F35I|CDIPT_uc002dun.2_Missense_Mutation_p.F18I|LOC440356_uc010veb.1_5'Flank|LOC440356_uc002duo.2_5'Flank	p.F63I	NM_006319	NP_006310	O14735	CDIPT_HUMAN			3	587	-			63					B4DUV0|H3BTV1|Q6FGU1|Q6ZN70	Missense_Mutation	SNP	ENST00000219789.6	37	c.187T>A	CCDS10657.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.439960	0.83885	.	.	ENSG00000103502	ENST00000219789;ENST00000403894	T	0.47177	0.85	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.64616	0.2614	M	0.76328	2.33	0.80722	D	1	P;P;P	0.51537	0.675;0.722;0.946	P;P;P	0.58172	0.612;0.834;0.462	T	0.68965	-0.5270	10	0.87932	D	0	-16.7936	14.0659	0.64828	1.0:0.0:0.0:0.0	.	18;63;87	B4DUV0;O14735;B3KY94	.;CDIPT_HUMAN;.	I	63;116	ENSP00000219789:F63I	ENSP00000219789:F63I	F	-	1	0	CDIPT	29780073	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.822000	0.86651	2.220000	0.72140	0.533000	0.62120	TTT		0.562	CDIPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255147.3	NM_006319		10	25	0	0	0	0	10	25				
ITGAL	3683	broad.mit.edu	37	16	30490651	30490651	+	Splice_Site	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr16:30490651G>A	ENST00000356798.6	+	6	625		c.e6-1		ITGAL_ENST00000433423.2_Intron|RP11-297C4.2_ENST00000569459.1_RNA|RP11-297C4.3_ENST00000562525.1_RNA|ITGAL_ENST00000358164.5_Intron|ITGAL_ENST00000454514.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)						activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	GGCTTCTGCAGAATGTATCAA	0.473																																					NSCLC(110;1462 1641 3311 33990 49495)	uc002dyi.3		NA																	0				ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10						c.e6-1		integrin alpha L isoform a precursor	Efalizumab(DB00095)						100.0	92.0	94.0					16																	30490651		2197	4300	6497	SO:0001630	splice_region_variant	3683				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30490651G>A		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.446-1G>A	16.37:g.30490651G>A						ITGAL_uc010veu.1_Intron|ITGAL_uc002dyj.3_Intron|ITGAL_uc010vev.1_Intron	p.E149_splice	NM_002209	NP_002200	P20701	ITAL_HUMAN			6	622	+								O43746|Q45H73|Q96HB1|Q9UBC8	Splice_Site	SNP	ENST00000356798.6	37	c.446_splice	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.332735	0.81801	.	.	ENSG00000005844	ENST00000356798	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3632	0.87357	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ITGAL	30398152	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	6.370000	0.73114	2.838000	0.97847	0.514000	0.50259	.		0.473	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2		Intron	23	40	0	0	0	0	23	40				
NLRC5	84166	broad.mit.edu	37	16	57067576	57067576	+	Silent	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr16:57067576G>A	ENST00000262510.6	+	12	2763	c.2538G>A	c.(2536-2538)acG>acA	p.T846T	NLRC5_ENST00000308149.7_Silent_p.T846T|NLRC5_ENST00000436936.1_Silent_p.T846T|NLRC5_ENST00000539144.1_Silent_p.T846T	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	846					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GAAGCTTGACGCTCAGGTACC	0.547																																						uc002ekk.1		NA																	0				ovary(4)|skin(2)|breast(1)	7						c.(2536-2538)ACG>ACA		nucleotide-binding oligomerization domains 27							98.0	87.0	91.0					16																	57067576		2198	4300	6498	SO:0001819	synonymous_variant	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57067576G>A	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.2538G>A	16.37:g.57067576G>A						NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Silent_p.T595T|NLRC5_uc002ekl.2_Silent_p.T651T|NLRC5_uc002ekm.2_Silent_p.T651T|NLRC5_uc010ccr.1_RNA|NLRC5_uc010ccs.1_5'Flank	p.T846T	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN			12	2763	+		all_neural(199;0.225)	846					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Silent	SNP	ENST00000262510.6	37	c.2538G>A	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	G	0.378	-0.930366	0.02359	.	.	ENSG00000140853	ENST00000538805	.	.	.	4.14	-7.69	0.01263	.	.	.	.	.	T	0.21103	0.0508	.	.	.	0.28835	N	0.896925	.	.	.	.	.	.	T	0.22347	-1.0219	4	.	.	.	.	3.7135	0.08428	0.1991:0.5044:0.1724:0.1241	.	.	.	.	T	599	.	.	A	+	1	0	NLRC5	55625077	0.000000	0.05858	0.002000	0.10522	0.139000	0.21198	-1.269000	0.02834	-1.568000	0.01670	-0.247000	0.11927	GCT		0.547	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		21	54	0	0	0	0	21	54				
CHST6	4166	broad.mit.edu	37	16	75512874	75512874	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr16:75512874G>A	ENST00000332272.4	-	3	1032	c.853C>T	c.(853-855)Cgt>Tgt	p.R285C	CHST6_ENST00000390664.2_Missense_Mutation_p.R285C|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	285					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TAGAGCGCACGGATTTCTGCC	0.677																																						uc002fef.2		NA																	0					0						c.(853-855)CGT>TGT		carbohydrate (N-acetylglucosamine 6-O)							45.0	45.0	45.0					16																	75512874		2198	4300	6498	SO:0001583	missense	4166				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75512874G>A	AF280086	CCDS10918.1	16q22	2008-02-05			ENSG00000183196	ENSG00000183196		"""Sulfotransferases, membrane-bound"""	6938	protein-coding gene	gene with protein product		605294		MCDC1		8644739, 11017086	Standard	NM_021615		Approved		uc002fef.3	Q9GZX3	OTTHUMG00000137612	ENST00000332272.4:c.853C>T	16.37:g.75512874G>A	ENSP00000328983:p.Arg285Cys					CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Missense_Mutation_p.R285C	p.R285C	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN			3	1033	-			285			Lumenal (Potential).		D3DUK3	Missense_Mutation	SNP	ENST00000332272.4	37	c.853C>T	CCDS10918.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.190655	0.38707	.	.	ENSG00000183196	ENST00000332272;ENST00000390664	D;D	0.99809	-6.86;-6.86	4.73	4.73	0.59995	Sulfotransferase domain (1);	0.828357	0.11177	N	0.591362	D	0.99635	0.9866	M	0.73962	2.25	0.37826	D	0.928561	D	0.76494	0.999	D	0.64877	0.93	D	0.98164	1.0448	10	0.72032	D	0.01	.	10.463	0.44592	0.0:0.0:0.8054:0.1946	.	285	Q9GZX3	CHST6_HUMAN	C	285	ENSP00000328983:R285C;ENSP00000375079:R285C	ENSP00000328983:R285C	R	-	1	0	CHST6	74070375	0.891000	0.30450	0.992000	0.48379	0.364000	0.29643	1.374000	0.34283	2.194000	0.70268	0.591000	0.81541	CGT		0.677	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435478.1	NM_021615		6	85	0	0	0	0	6	85				
HSDL1	83693	broad.mit.edu	37	16	84163848	84163848	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr16:84163848G>A	ENST00000219439.4	-	4	585	c.409C>T	c.(409-411)Cga>Tga	p.R137*	HSDL1_ENST00000434463.3_Intron	NM_001146051.1|NM_031463.4	NP_001139523.1|NP_113651.4	Q3SXM5	HSDL1_HUMAN	hydroxysteroid dehydrogenase like 1	137						mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						AGGGCTTCTCGAATTGGAAGG	0.473																																						uc002fhk.2		NA																	0					0						c.(409-411)CGA>TGA		hydroxysteroid dehydrogenase like 1 isoform a							146.0	133.0	137.0					16																	84163848		2200	4300	6500	SO:0001587	stop_gained	83693					mitochondrion	oxidoreductase activity|protein binding	g.chr16:84163848G>A	AF237684	CCDS10942.1, CCDS54046.1	16q24	2011-09-20			ENSG00000103160	ENSG00000103160		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	16475	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 12C, member 3"""					12153137, 19027726	Standard	NM_031463		Approved	SDR12C3	uc002fhk.2	Q3SXM5	OTTHUMG00000137635	ENST00000219439.4:c.409C>T	16.37:g.84163848G>A	ENSP00000219439:p.Arg137*					HSDL1_uc010vnv.1_Intron	p.R137*	NM_031463	NP_113651	Q3SXM5	HSDL1_HUMAN			4	593	-			137					B4DSL2|D3DUL4|Q3SXM4|Q8NC98|Q9BY22	Nonsense_Mutation	SNP	ENST00000219439.4	37	c.409C>T	CCDS10942.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.256145	0.59321	.	.	ENSG00000103160	ENST00000219439	.	.	.	5.25	1.61	0.23674	.	0.328103	0.34268	N	0.004106	.	.	.	.	.	.	0.30028	N	0.813764	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-5.9412	7.7235	0.28746	0.0:0.3318:0.34:0.3282	.	.	.	.	X	137	.	ENSP00000219439:R137X	R	-	1	2	HSDL1	82721349	1.000000	0.71417	0.168000	0.22838	0.355000	0.29361	1.938000	0.40203	0.680000	0.31366	0.655000	0.94253	CGA		0.473	HSDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269076.3	NM_031463		8	151	0	0	0	0	8	151				
VPS53	55275	broad.mit.edu	37	17	465756	465756	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr17:465756C>A	ENST00000571805.1	-	14	1679	c.1543G>T	c.(1543-1545)Ggc>Tgc	p.G515C	VPS53_ENST00000291074.5_Missense_Mutation_p.G486C|VPS53_ENST00000401468.3_Missense_Mutation_p.G238C|VPS53_ENST00000446250.2_Missense_Mutation_p.G317C|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000437048.2_Missense_Mutation_p.G515C|VPS53_ENST00000576149.1_5'UTR			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	515					protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		GGCAGGTTGCCAGAGAGGATT	0.478																																						uc002frn.2		NA																	0					0						c.(1543-1545)GGC>TGC		vacuolar protein sorting 53 isoform 2							81.0	77.0	78.0					17																	465756		2203	4300	6503	SO:0001583	missense	55275				protein transport	endosome membrane|Golgi apparatus		g.chr17:465756C>A		CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252			25608	protein-coding gene	gene with protein product		615850	"""vacuolar protein sorting 53 (yeast)"""			15878329	Standard	NM_018289		Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000571805.1:c.1543G>T	17.37:g.465756C>A	ENSP00000459312:p.Gly515Cys					VPS53_uc002frk.2_Missense_Mutation_p.G34C|VPS53_uc010cjo.1_Missense_Mutation_p.G515C|VPS53_uc002frl.2_RNA|VPS53_uc002frm.2_Missense_Mutation_p.G486C|VPS53_uc002fro.2_Missense_Mutation_p.G317C|VPS53_uc010cjp.1_Missense_Mutation_p.G238C	p.G515C	NM_018289	NP_060759	Q5VIR6	VPS53_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)	14	1690	-			515					A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Missense_Mutation	SNP	ENST00000571805.1	37	c.1543G>T		.	.	.	.	.	.	.	.	.	.	C	27.0	4.792689	0.90453	.	.	ENSG00000141252	ENST00000437048;ENST00000446250;ENST00000291074;ENST00000401468;ENST00000389040	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.57858	0.2082	M	0.70595	2.14	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;0.998	D;D;D;D;D	0.74674	0.984;0.983;0.981;0.91;0.967	T	0.56505	-0.7968	10	0.72032	D	0.01	-22.8224	19.6321	0.95713	0.0:1.0:0.0:0.0	.	238;515;317;515;486	E7EVT8;Q5VIR6-4;G3V0H8;Q5VIR6;Q5VIR6-2	.;.;.;VPS53_HUMAN;.	C	515;317;486;238;467	ENSP00000401435:G515C;ENSP00000394386:G317C;ENSP00000291074:G486C;ENSP00000384294:G238C;ENSP00000373692:G467C	ENSP00000291074:G486C	G	-	1	0	VPS53	412506	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.427000	0.80284	2.884000	0.98904	0.655000	0.94253	GGC		0.478	VPS53-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000436940.2	NM_018289		22	59	1	0	1.85e-09	2.33e-09	22	59				
ZZEF1	23140	broad.mit.edu	37	17	3926063	3926063	+	Silent	SNP	C	C	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr17:3926063C>G	ENST00000381638.2	-	44	7276	c.7152G>C	c.(7150-7152)ctG>ctC	p.L2384L		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2384							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						ACTTTTTCACCAGCAACTTCA	0.517																																						uc002fxe.2		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(7150-7152)CTG>CTC		zinc finger, ZZ type with EF hand domain 1							112.0	100.0	104.0					17																	3926063		2203	4300	6503	SO:0001819	synonymous_variant	23140						calcium ion binding|zinc ion binding	g.chr17:3926063C>G	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.7152G>C	17.37:g.3926063C>G						ZZEF1_uc002fxh.2_Silent_p.L698L|ZZEF1_uc002fxi.2_Silent_p.L619L	p.L2384L	NM_015113	NP_055928	O43149	ZZEF1_HUMAN			44	7216	-			2384					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Silent	SNP	ENST00000381638.2	37	c.7152G>C	CCDS11043.1																																																																																				0.517	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		15	44	0	0	0	0	15	44				
TP53	7157	broad.mit.edu	37	17	7577046	7577046	+	Nonsense_Mutation	SNP	C	C	A	rs201744589		TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr17:7577046C>A	ENST00000269305.4	-	8	1081	c.892G>T	c.(892-894)Gag>Tag	p.E298*	TP53_ENST00000359597.4_Nonsense_Mutation_p.E298*|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.E298*|TP53_ENST00000420246.2_Nonsense_Mutation_p.E298*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Nonsense_Mutation_p.E298*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	298	Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E298*(49)|p.0?(8)|p.?(2)|p.E298K(1)|p.L299fs*2(1)|p.L265_K305del41(1)|p.E298fs*53(1)|p.G293fs*1(1)|p.E298Q(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGGGGCAGCTCGTGGTGAGGC	0.567		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		67	Substitution - Nonsense(49)|Whole gene deletion(8)|Deletion - In frame(3)|Unknown(2)|Deletion - Frameshift(2)|Substitution - Missense(2)|Insertion - Frameshift(1)	p.E298*(35)|p.0?(7)|p.E298K(2)|p.?(2)|p.E298V(2)|p.L299fs*2(1)|p.L265_K305del41(1)|p.E298A(1)|p.E298fs*53(1)|p.G293fs*1(1)|p.E298fs*47(1)|p.E298E(1)|p.E298Q(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(1)	lung(21)|upper_aerodigestive_tract(13)|breast(6)|bone(5)|haematopoietic_and_lymphoid_tissue(4)|urinary_tract(4)|central_nervous_system(2)|oesophagus(2)|ovary(2)|pancreas(2)|liver(2)|large_intestine(1)|stomach(1)|salivary_gland(1)|skin(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM031387	TP53	M		c.(892-894)GAG>TAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							110.0	96.0	101.0					17																	7577046		2203	4300	6503	SO:0001587	stop_gained	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577046C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.892G>T	17.37:g.7577046C>A	ENSP00000269305:p.Glu298*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.E298*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.E166*|TP53_uc010cng.1_Nonsense_Mutation_p.E166*|TP53_uc002gii.1_Nonsense_Mutation_p.E166*|TP53_uc010cnh.1_Nonsense_Mutation_p.E298*|TP53_uc010cni.1_Nonsense_Mutation_p.E298*|TP53_uc002gij.2_Nonsense_Mutation_p.E298*	p.E298*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1086	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	298		E -> V (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> A (in a sporadic cancer; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).	Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.892G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.603544	0.66445	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.26	-4.03	0.04021	.	0.553557	0.18174	N	0.149346	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-12.8318	5.9489	0.19234	0.0:0.2155:0.4162:0.3682	.	.	.	.	X	298;298;298;298;298;287;166	.	ENSP00000269305:E298X	E	-	1	0	TP53	7517771	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.837000	0.04377	-0.441000	0.07201	-0.218000	0.12543	GAG		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		25	54	1	0	3.65e-15	4.85e-15	25	54				
MYH13	8735	broad.mit.edu	37	17	10263357	10263357	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr17:10263357T>C	ENST00000418404.3	-	6	728	c.565A>G	c.(565-567)Acc>Gcc	p.T189A	MYH13_ENST00000252172.4_Missense_Mutation_p.T189A			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	189	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ACACGCTTGGTGTTCACAGTC	0.512																																						uc002gmk.1		NA																	0				ovary(4)|skin(2)	6						c.(565-567)ACC>GCC		myosin, heavy polypeptide 13, skeletal muscle							109.0	111.0	110.0					17																	10263357		2203	4300	6503	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10263357T>C	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.565A>G	17.37:g.10263357T>C	ENSP00000404570:p.Thr189Ala						p.T189A	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			7	655	-			189			Myosin head-like.		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.565A>G	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.514432	0.85389	.	.	ENSG00000006788	ENST00000252172	D	0.87412	-2.25	4.12	4.12	0.48240	Myosin head, motor domain (3);	.	.	.	.	D	0.93374	0.7887	M	0.76727	2.345	0.46564	D	0.9991	B	0.30584	0.286	P	0.58970	0.849	D	0.93790	0.7091	9	0.87932	D	0	.	13.5946	0.61982	0.0:0.0:0.0:1.0	.	189	Q9UKX3	MYH13_HUMAN	A	189	ENSP00000252172:T189A	ENSP00000252172:T189A	T	-	1	0	MYH13	10204082	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.705000	0.84606	1.864000	0.54056	0.533000	0.62120	ACC		0.512	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		15	57	0	0	0	0	15	57				
MYH3	4621	broad.mit.edu	37	17	10535187	10535187	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr17:10535187T>A	ENST00000583535.1	-	35	5190	c.5103A>T	c.(5101-5103)aaA>aaT	p.K1701N	MYH3_ENST00000226209.7_Missense_Mutation_p.K1701N	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1701					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GTTCCGCCAGTTTCCGGGCCC	0.637																																						uc002gmq.1		NA																	0				ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(5101-5103)AAA>AAT		myosin, heavy chain 3, skeletal muscle,							57.0	59.0	58.0					17																	10535187		2203	4300	6503	SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10535187T>A		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.5103A>T	17.37:g.10535187T>A	ENSP00000464317:p.Lys1701Asn						p.K1701N	NM_002470	NP_002461	P11055	MYH3_HUMAN			34	5180	-			1701			Potential.		Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	c.5103A>T	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	T	14.27	2.485322	0.44147	.	.	ENSG00000109063	ENST00000226209	D	0.83419	-1.72	4.99	-9.55	0.00569	Myosin tail (1);	.	.	.	.	D	0.93197	0.7833	H	0.97635	4.045	0.21445	N	0.999688	D	0.64830	0.994	D	0.73708	0.981	D	0.90579	0.4528	9	0.87932	D	0	.	18.8368	0.92165	0.0:0.1397:0.0:0.8603	.	1701	P11055	MYH3_HUMAN	N	1701	ENSP00000226209:K1701N	ENSP00000226209:K1701N	K	-	3	2	MYH3	10475912	0.000000	0.05858	0.173000	0.22940	0.045000	0.14185	-0.888000	0.04148	-1.720000	0.01380	-0.912000	0.02778	AAA		0.637	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		10	61	0	0	0	0	10	61				
ELAC2	60528	broad.mit.edu	37	17	12905653	12905653	+	Silent	SNP	C	C	A	rs374895815		TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr17:12905653C>A	ENST00000338034.4	-	14	1481	c.1242G>T	c.(1240-1242)gtG>gtT	p.V414V	ELAC2_ENST00000609345.1_5'Flank|ELAC2_ENST00000395962.2_Silent_p.V395V|ELAC2_ENST00000426905.3_Silent_p.V374V	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	414					mitochondrial tRNA 3'-trailer cleavage, endonucleolytic (GO:0072684)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						GAACCATGGGCACACTGAGGG	0.567																																						uc002gnz.3		NA																	0					0						c.(1240-1242)GTG>GTT		elaC homolog 2 isoform 1							83.0	78.0	79.0					17																	12905653		2203	4300	6503	SO:0001819	synonymous_variant	60528	Hereditary_Prostate_Cancer			tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding	g.chr17:12905653C>A	AF304370	CCDS11164.1, CCDS54093.1	17p11.2	2013-05-24	2013-05-24		ENSG00000006744	ENSG00000006744	3.1.26.11		14198	protein-coding gene	gene with protein product	"""tRNase Z (long form)"""	605367	"""elaC (E. coli) homolog 2"", ""elaC homolog 2 (E. coli)"""			10986046, 16636667, 21559454	Standard	NM_018127		Approved	FLJ10530, HPC2	uc010vvr.2	Q9BQ52	OTTHUMG00000058764	ENST00000338034.4:c.1242G>T	17.37:g.12905653C>A						ELAC2_uc002gnu.3_5'Flank|ELAC2_uc002gnv.3_Silent_p.V42V|ELAC2_uc002gnw.3_Silent_p.V72V|ELAC2_uc002gnx.3_Silent_p.V174V|ELAC2_uc010vvo.1_Silent_p.V212V|ELAC2_uc010vvp.1_Silent_p.V395V|ELAC2_uc010vvq.1_Silent_p.V413V|ELAC2_uc010vvr.1_Silent_p.V374V	p.V414V	NM_018127	NP_060597	Q9BQ52	RNZ2_HUMAN			14	1337	-			414					B4DPL9|Q6IA94|Q9HAS8|Q9HAS9|Q9NVT1	Silent	SNP	ENST00000338034.4	37	c.1242G>T	CCDS11164.1	.	.	.	.	.	.	.	.	.	.	C	9.615	1.132373	0.21041	.	.	ENSG00000006744	ENST00000446899	.	.	.	5.67	-0.159	0.13379	.	.	.	.	.	T	0.43612	0.1255	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27938	-1.0059	4	.	.	.	-24.2311	3.5726	0.07922	0.2285:0.5148:0.112:0.1447	.	.	.	.	S	194	.	.	A	-	1	0	ELAC2	12846378	0.943000	0.32029	0.909000	0.35828	0.021000	0.10359	0.040000	0.13905	0.329000	0.23460	0.563000	0.77884	GCC		0.567	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129934.5			21	54	1	0	1.28e-07	1.55e-07	21	54				
MYO18A	399687	broad.mit.edu	37	17	27447762	27447762	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr17:27447762C>T	ENST00000527372.1	-	7	1780	c.1600G>A	c.(1600-1602)Gct>Act	p.A534T	MYO18A_ENST00000531253.1_Missense_Mutation_p.A534T|MYO18A_ENST00000354329.4_Missense_Mutation_p.A534T|MYO18A_ENST00000533112.1_Missense_Mutation_p.A534T	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	534	Myosin motor.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GTGTACAGAGCCTGCCACTTC	0.567																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	uc002hdt.1		NA																	0					0						c.(1600-1602)GCT>ACT		myosin 18A isoform a							59.0	68.0	65.0					17																	27447762		2047	4188	6235	SO:0001583	missense	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27447762C>T	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.1600G>A	17.37:g.27447762C>T	ENSP00000437073:p.Ala534Thr					MYO18A_uc010wbc.1_Missense_Mutation_p.A76T|MYO18A_uc002hds.2_Missense_Mutation_p.A76T|MYO18A_uc010csa.1_Missense_Mutation_p.A534T|MYO18A_uc002hdu.1_Missense_Mutation_p.A534T|MYO18A_uc010wbd.1_Missense_Mutation_p.A203T	p.A534T	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		7	1758	-			534			Myosin head-like.		Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	c.1600G>A	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	C	36	5.865900	0.97043	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000458428	D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28	5.93	5.93	0.95920	Myosin head, motor domain (2);	0.046616	0.85682	D	0.000000	D	0.92919	0.7747	M	0.64404	1.975	0.58432	D	0.999999	D;D;P;P;D	0.76494	0.999;0.996;0.86;0.86;0.99	D;P;P;P;P	0.76575	0.988;0.892;0.536;0.536;0.89	D	0.92805	0.6259	10	0.87932	D	0	.	19.9643	0.97261	0.0:1.0:0.0:0.0	.	203;146;534;534;534	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	T	534;534;534;534;534;146	ENSP00000346291:A534T;ENSP00000435932:A534T;ENSP00000434228:A534T;ENSP00000437073:A534T	ENSP00000346291:A534T	A	-	1	0	MYO18A	24471888	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.453000	0.80700	2.826000	0.97356	0.655000	0.94253	GCT		0.567	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		25	49	0	0	0	0	25	49				
KRT28	162605	broad.mit.edu	37	17	38948796	38948796	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr17:38948796C>A	ENST00000306658.7	-	8	1343	c.1278G>T	c.(1276-1278)aaG>aaT	p.K426N		NM_181535.3	NP_853513.2			keratin 28											NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				CAACCACTGTCTTTACCAGTG	0.348																																					Melanoma(19;789 869 15380 26882 39836)	uc002hvh.1		NA																	0				ovary(1)	1						c.(1276-1278)AAG>AAT		keratin 25D							110.0	102.0	104.0					17																	38948796		2203	4300	6503	SO:0001583	missense	162605					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38948796C>A	AK129827	CCDS11376.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000173908	ENSG00000173908		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30842	protein-coding gene	gene with protein product			"""keratin 25D"""	KRT25D		16831889	Standard	NM_181535		Approved		uc002hvh.1	Q7Z3Y7	OTTHUMG00000133365	ENST00000306658.7:c.1278G>T	17.37:g.38948796C>A	ENSP00000305263:p.Lys426Asn						p.K426N	NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN			8	1344	-		Breast(137;0.000301)	426			Tail.			Missense_Mutation	SNP	ENST00000306658.7	37	c.1278G>T	CCDS11376.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.626382	0.87560	.	.	ENSG00000173908	ENST00000306658	D	0.84944	-1.92	6.1	6.1	0.99115	.	0.000000	0.64402	D	0.000005	D	0.92054	0.7482	M	0.81614	2.55	0.45216	D	0.998222	D	0.60160	0.987	D	0.64687	0.928	D	0.92299	0.5848	10	0.72032	D	0.01	.	16.2147	0.82198	0.0:1.0:0.0:0.0	.	426	Q7Z3Y7	K1C28_HUMAN	N	426	ENSP00000305263:K426N	ENSP00000305263:K426N	K	-	3	2	KRT28	36202322	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.611000	0.24268	2.902000	0.99343	0.650000	0.86243	AAG		0.348	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257201.2	NM_181535		10	25	1	0	3.86e-05	4.33e-05	10	25				
CDK5RAP3	80279	broad.mit.edu	37	17	46051295	46051295	+	Splice_Site	SNP	A	A	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr17:46051295A>G	ENST00000338399.4	+	4	290		c.e4-1		RP11-6N17.9_ENST00000582262.1_RNA|CDK5RAP3_ENST00000536708.2_Splice_Site	NM_176096.1	NP_788276.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3						brain development (GO:0007420)|protein ufmylation (GO:0071569)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of neuron differentiation (GO:0045664)	membrane (GO:0016020)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						CTTGCTTTCTAGACATTCACT	0.443																																						uc002imr.2		NA																	0					0						c.e4-2		CDK5 regulatory subunit associated protein 3							118.0	116.0	117.0					17																	46051295		1900	4112	6012	SO:0001630	splice_region_variant	80279				brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding	g.chr17:46051295A>G	AF110322	CCDS42356.1, CCDS62232.1	17q21.2	2008-07-18				ENSG00000108465			18673	protein-coding gene	gene with protein product	"""ischemic heart CDK5 activator-binding protein C53"", ""LXXLL/leucine-zipper-containing ARFbinding protein"""	608202				10721722	Standard	NM_176096		Approved	MST016, FLJ13660, C53, IC53, HSF-27, OK/SW-cl.114, LZAP	uc010wlc.3	Q96JB5		ENST00000338399.4:c.185-1A>G	17.37:g.46051295A>G						CDK5RAP3_uc010wlc.1_Splice_Site_p.Y82_splice|CDK5RAP3_uc002imq.1_Splice_Site|CDK5RAP3_uc002imu.2_Splice_Site|CDK5RAP3_uc002ims.2_Splice_Site|CDK5RAP3_uc002imv.2_Splice_Site|CDK5RAP3_uc002imw.2_Splice_Site|CDK5RAP3_uc002imx.2_Splice_Site	p.Y62_splice	NM_176096	NP_788276	Q96JB5	CK5P3_HUMAN			4	269	+								B7Z6N4|D3DTU1|D3DTU2|F5H3I5|Q53FA2|Q9H3F8|Q9H8G0|Q9HBR9	Splice_Site	SNP	ENST00000338399.4	37	c.185_splice	CCDS42356.1	.	.	.	.	.	.	.	.	.	.	A	17.21	3.331799	0.60853	.	.	ENSG00000108465	ENST00000536708;ENST00000338399	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0485	0.71846	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDK5RAP3	43406294	1.000000	0.71417	0.981000	0.43875	0.633000	0.38033	6.952000	0.75989	2.200000	0.70718	0.533000	0.62120	.		0.443	CDK5RAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442913.1	NM_176096	Intron	35	115	0	0	0	0	35	115				
SDK2	54549	broad.mit.edu	37	17	71390387	71390387	+	Silent	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr17:71390387G>A	ENST00000392650.3	-	26	3669	c.3669C>T	c.(3667-3669)gtC>gtT	p.V1223V	SDK2_ENST00000388726.3_Silent_p.V1223V	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1223	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CAGCCTCGGGGACCTCGCTCC	0.652																																						uc010dfm.2		NA																	0				ovary(2)	2						c.(3667-3669)GTC>GTT		sidekick 2							46.0	41.0	43.0					17																	71390387		2203	4300	6503	SO:0001819	synonymous_variant	54549				cell adhesion	integral to membrane		g.chr17:71390387G>A	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.3669C>T	17.37:g.71390387G>A						SDK2_uc002jjt.3_Silent_p.V382V|SDK2_uc010dfn.2_Silent_p.V902V	p.V1223V	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN			26	3669	-			1223			Fibronectin type-III 7.|Extracellular (Potential).		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Silent	SNP	ENST00000392650.3	37	c.3669C>T	CCDS45769.1																																																																																				0.652	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		5	19	0	0	0	0	5	19				
MGAT5B	146664	broad.mit.edu	37	17	74901400	74901400	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr17:74901400G>T	ENST00000569840.2	+	7	1414	c.840G>T	c.(838-840)caG>caT	p.Q280H	MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000428789.2_Missense_Mutation_p.Q291H|MGAT5B_ENST00000301618.4_Missense_Mutation_p.Q280H	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	280					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGGCCACCCAGAGGGACCAGA	0.627																																						uc002jti.2		NA																	0				ovary(2)|skin(1)	3						c.(871-873)CAG>CAT		N-acetylglucosaminyltranferase VB isoform 2							17.0	21.0	20.0					17																	74901400		2190	4287	6477	SO:0001583	missense	146664					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr17:74901400G>T	AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	24140	protein-coding gene	gene with protein product		612441	"""mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"""			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.840G>T	17.37:g.74901400G>T	ENSP00000456037:p.Gln280His					MGAT5B_uc002jth.2_Missense_Mutation_p.Q280H	p.Q291H	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN			6	976	+			280			Lumenal (Potential).		Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	ENST00000569840.2	37	c.873G>T	CCDS59299.1	.	.	.	.	.	.	.	.	.	.	G	8.542	0.873407	0.17322	.	.	ENSG00000167889	ENST00000374998;ENST00000301618;ENST00000428789	T;T	0.45668	0.9;0.89	5.22	4.23	0.50019	.	0.704408	0.14730	N	0.301787	T	0.27933	0.0688	N	0.14661	0.345	0.18873	N	0.999986	B;B	0.33512	0.415;0.164	B;B	0.30401	0.115;0.115	T	0.10989	-1.0606	10	0.39692	T	0.17	-7.1486	14.6446	0.68751	0.0:0.1465:0.8535:0.0	.	291;280	Q3V5L5-2;Q3V5L5-5	.;.	H	280;280;291	ENSP00000301618:Q280H;ENSP00000391227:Q291H	ENSP00000301618:Q280H	Q	+	3	2	MGAT5B	72412995	0.994000	0.37717	0.649000	0.29536	0.102000	0.19082	2.189000	0.42621	1.140000	0.42260	0.514000	0.50259	CAG		0.627	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2	NM_144677		12	35	1	0	5.17e-11	6.7e-11	12	35				
CIDEA	1149	broad.mit.edu	37	18	12262964	12262964	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr18:12262964G>T	ENST00000320477.9	+	2	244	c.179G>T	c.(178-180)aGc>aTc	p.S60I	CIDEA_ENST00000521296.1_3'UTR	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a	60	CIDE-N. {ECO:0000255|PROSITE- ProRule:PRU00447}.				apoptotic process (GO:0006915)|cell death (GO:0008219)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of sequestering of triglyceride (GO:0010890)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|response to stilbenoid (GO:0035634)|temperature homeostasis (GO:0001659)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|mitochondrial envelope (GO:0005740)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.S94I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						GAGCTCATCAGCAAGGTGCCC	0.642																																						uc002kqt.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(178-180)AGC>ATC		cell death-inducing DFFA-like effector a isoform							36.0	36.0	36.0					18																	12262964		2203	4300	6503	SO:0001583	missense	1149				DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity	g.chr18:12262964G>T	AF041378	CCDS11856.1	18p11.21	2008-08-01			ENSG00000176194	ENSG00000176194			1976	protein-coding gene	gene with protein product		604440				9564035, 18509062	Standard	NM_001279		Approved	CIDE-A	uc002kqt.4	O60543	OTTHUMG00000131691	ENST00000320477.9:c.179G>T	18.37:g.12262964G>T	ENSP00000320209:p.Ser60Ile					CIDEA_uc002kqu.3_Missense_Mutation_p.S94I|CIDEA_uc010dlc.2_RNA	p.S60I	NM_001279	NP_001270	O60543	CIDEA_HUMAN			2	244	+			60			CIDE-N.		B0YIY7|Q6UPR7	Missense_Mutation	SNP	ENST00000320477.9	37	c.179G>T	CCDS11856.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.607985	0.46527	.	.	ENSG00000176194	ENST00000320477	T	0.42513	0.97	5.31	-0.515	0.11954	Caspase-activated nuclease CIDE-N (3);	0.378999	0.30235	N	0.010096	T	0.35098	0.0920	L	0.47190	1.495	0.36437	D	0.865268	B;P	0.51653	0.336;0.947	B;P	0.47075	0.227;0.536	T	0.33163	-0.9879	10	0.42905	T	0.14	-16.8136	6.6523	0.22969	0.2822:0.2242:0.4935:0.0	.	94;60	Q8N5P9;O60543	.;CIDEA_HUMAN	I	60	ENSP00000320209:S60I	ENSP00000320209:S60I	S	+	2	0	CIDEA	12252964	1.000000	0.71417	0.945000	0.38365	0.562000	0.35680	0.702000	0.25631	-0.036000	0.13669	0.655000	0.94253	AGC		0.642	CIDEA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254599.2	NM_001279		8	26	1	0	0.00307968	0.00333764	8	26				
MC2R	4158	broad.mit.edu	37	18	13884633	13884633	+	Missense_Mutation	SNP	C	C	G	rs147683219		TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr18:13884633C>G	ENST00000327606.3	-	2	1065	c.885G>C	c.(883-885)agG>agC	p.R295S		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	295					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	TCTACCAGTACCTGCTGCAGA	0.478																																					Colon(141;1584 1782 35999 48227 48692)	uc002ksp.1		NA																	0				ovary(4)|skin(1)	5						c.(883-885)AGG>AGC		melanocortin 2 receptor	Corticotropin(DB01285)|Cosyntropin(DB01284)						116.0	112.0	114.0					18																	13884633		2203	4300	6503	SO:0001583	missense	4158				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	g.chr18:13884633C>G		CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"""GPCR / Class A : Melanocortin receptors"""	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.885G>C	18.37:g.13884633C>G	ENSP00000333821:p.Arg295Ser						p.R295S	NM_000529	NP_000520	Q01718	ACTHR_HUMAN			2	1062	-			295			Cytoplasmic (By similarity).		A8K016|Q3MI45|Q504X6	Missense_Mutation	SNP	ENST00000327606.3	37	c.885G>C	CCDS11869.1	.	.	.	.	.	.	.	.	.	.	C	8.822	0.937781	0.18206	.	.	ENSG00000185231	ENST00000327606;ENST00000399821	T	0.37915	1.17	4.96	0.373	0.16178	.	0.389170	0.27298	N	0.020007	T	0.23054	0.0557	L	0.43923	1.385	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25572	-1.0128	10	0.12103	T	0.63	.	7.3891	0.26899	0.2371:0.614:0.0:0.1489	.	295	Q01718	ACTHR_HUMAN	S	295	ENSP00000333821:R295S	ENSP00000333821:R295S	R	-	3	2	MC2R	13874633	0.002000	0.14202	0.001000	0.08648	0.005000	0.04900	1.067000	0.30616	0.146000	0.19002	0.644000	0.83932	AGG		0.478	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2			18	57	0	0	0	0	18	57				
TCEB3B	51224	broad.mit.edu	37	18	44559713	44559713	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr18:44559713C>T	ENST00000332567.4	-	1	2275	c.1923G>A	c.(1921-1923)atG>atA	p.M641I	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	641	Activation domain. {ECO:0000250}.				regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TGAAACAGATCATCTTTGCCT	0.537																																						uc002lcr.1		NA																	0				ovary(2)|large_intestine(1)|pancreas(1)	4						c.(1921-1923)ATG>ATA		elongin A2							132.0	132.0	132.0					18																	44559713		2203	4300	6503	SO:0001583	missense	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44559713C>T	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.1923G>A	18.37:g.44559713C>T	ENSP00000331302:p.Met641Ile					KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	p.M641I	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN			1	2276	-			641			Activation domain (By similarity).		Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	c.1923G>A	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	C	7.781	0.709431	0.15239	.	.	ENSG00000206181	ENST00000332567	T	0.10668	2.85	1.4	1.4	0.22301	.	0.000000	0.64402	D	0.000011	T	0.12220	0.0297	M	0.75777	2.31	0.09310	N	1	B	0.12630	0.006	B	0.17979	0.02	T	0.15122	-1.0448	10	0.45353	T	0.12	-22.2771	6.2432	0.20803	0.0:1.0:0.0:0.0	.	641	Q8IYF1	ELOA2_HUMAN	I	641	ENSP00000331302:M641I	ENSP00000331302:M641I	M	-	3	0	TCEB3B	42813711	0.046000	0.20272	0.008000	0.14137	0.011000	0.07611	0.391000	0.20784	1.090000	0.41315	0.609000	0.83330	ATG		0.537	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		68	80	0	0	0	0	68	80				
DCC	1630	broad.mit.edu	37	18	50450075	50450075	+	Splice_Site	SNP	A	A	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr18:50450075A>G	ENST00000442544.2	+	4	1313		c.e4-1		DCC_ENST00000412726.1_Splice_Site	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor						anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TTCCCCTCATAGATCCAGGAC	0.343																																						uc002lfe.1		NA																	0				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.e4-2		netrin receptor DCC precursor							101.0	89.0	93.0					18																	50450075		2203	4300	6503	SO:0001630	splice_region_variant	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50450075A>G	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.698-1A>G	18.37:g.50450075A>G						DCC_uc010xdr.1_Splice_Site_p.D81_splice	p.D233_splice	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	4	1285	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)							Splice_Site	SNP	ENST00000442544.2	37	c.698_splice	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	A	14.00	2.403571	0.42613	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8912	0.70609	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DCC	48704073	1.000000	0.71417	0.945000	0.38365	0.546000	0.35178	6.672000	0.74477	2.164000	0.68074	0.533000	0.62120	.		0.343	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215	Intron	14	18	0	0	0	0	14	18				
MUC16	94025	broad.mit.edu	37	19	9062563	9062563	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr19:9062563G>A	ENST00000397910.4	-	3	25086	c.24883C>T	c.(24883-24885)Cct>Tct	p.P8295S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8297	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						GAAGTCACAGGAAGAGAAGCG	0.512																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(24883-24885)CCT>TCT		mucin 16							80.0	80.0	80.0					19																	9062563		1978	4157	6135	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9062563G>A	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.24883C>T	19.37:g.9062563G>A	ENSP00000381008:p.Pro8295Ser						p.P8295S	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	25087	-			8297			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.24883C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	5.546	0.285599	0.10513	.	.	ENSG00000181143	ENST00000397910	T	0.22743	1.94	2.78	-4.43	0.03568	.	.	.	.	.	T	0.18718	0.0449	L	0.50333	1.59	.	.	.	B	0.16603	0.018	B	0.26310	0.068	T	0.33701	-0.9858	8	0.87932	D	0	.	8.9194	0.35601	0.7373:0.0:0.2627:0.0	.	8295	B5ME49	.	S	8295	ENSP00000381008:P8295S	ENSP00000381008:P8295S	P	-	1	0	MUC16	8923563	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.110000	0.10824	-0.985000	0.03503	0.385000	0.25706	CCT		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		22	50	0	0	0	0	22	50				
MUC16	94025	broad.mit.edu	37	19	9086084	9086084	+	Nonsense_Mutation	SNP	G	G	A	rs371327216		TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr19:9086084G>A	ENST00000397910.4	-	1	5934	c.5731C>T	c.(5731-5733)Cga>Tga	p.R1911*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1911	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						GTCTCAGGTCGGGGATGGATT	0.488																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(5731-5733)CGA>TGA		mucin 16		G	stop/ARG	0,3940		0,0,1970	102.0	98.0	99.0		5731	0.2	0.0	19		99	1,8315		0,1,4157	no	stop-gained	MUC16	NM_024690.2		0,1,6127	AA,AG,GG		0.012,0.0,0.0082		1911/14508	9086084	1,12255	1970	4158	6128	SO:0001587	stop_gained	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9086084G>A	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.5731C>T	19.37:g.9086084G>A	ENSP00000381008:p.Arg1911*						p.R1911*	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	5935	-			1911			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	37	c.5731C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	45	11.395958	0.99556	0.0	1.2E-4	ENSG00000181143	ENST00000397910	.	.	.	0.235	0.235	0.15431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	.	.	.	.	.	.	.	X	1911	.	ENSP00000381008:R1911X	R	-	1	2	MUC16	8947084	0.001000	0.12720	0.004000	0.12327	0.007000	0.05969	0.834000	0.27518	0.308000	0.22923	0.313000	0.20887	CGA		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		11	27	0	0	0	0	11	27				
OR7G2	390882	broad.mit.edu	37	19	9213532	9213532	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr19:9213532G>T	ENST00000305456.2	-	1	450	c.451C>A	c.(451-453)Ctt>Att	p.L151I		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	130						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						GTGTATCTAAGGGGGTGACAA	0.498																																					Esophageal Squamous(67;143 1448 28637 40648)	uc010xkk.1		NA																	0				skin(1)	1						c.(451-453)CTT>ATT		olfactory receptor, family 7, subfamily G,							70.0	65.0	67.0					19																	9213532		2203	4300	6503	SO:0001583	missense	390882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9213532G>T		CCDS32897.1	19p13.2	2013-09-24			ENSG00000170923	ENSG00000170923		"""GPCR / Class A : Olfactory receptors"""	8466	protein-coding gene	gene with protein product							Standard	NM_001005193		Approved	OST260	uc010xkk.2	Q8NG99	OTTHUMG00000179931	ENST00000305456.2:c.451C>A	19.37:g.9213532G>T	ENSP00000303822:p.Leu151Ile						p.L151I	NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN			1	451	-			130			Cytoplasmic (Potential).		Q6IFJ4|Q96RA0	Missense_Mutation	SNP	ENST00000305456.2	37	c.451C>A	CCDS32897.1	.	.	.	.	.	.	.	.	.	.	g	16.36	3.102030	0.56183	.	.	ENSG00000170923	ENST00000305456	T	0.01474	4.85	3.33	-1.38	0.09027	GPCR, rhodopsin-like superfamily (1);	0.286605	0.18499	U	0.139401	T	0.12178	0.0296	H	0.99225	4.475	0.09310	N	0.999999	D	0.58268	0.982	P	0.54544	0.755	T	0.05354	-1.0890	10	0.87932	D	0	.	8.4186	0.32687	0.3487:0.0:0.6513:0.0	.	130	Q8NG99	OR7G2_HUMAN	I	151	ENSP00000303822:L151I	ENSP00000303822:L151I	L	-	1	0	OR7G2	9074532	0.539000	0.26402	0.000000	0.03702	0.001000	0.01503	0.732000	0.26072	-0.130000	0.11599	0.552000	0.68991	CTT		0.498	OR7G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448994.1			15	28	1	0	1.05e-09	1.33e-09	15	28				
ZNF563	147837	broad.mit.edu	37	19	12433432	12433432	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr19:12433432T>C	ENST00000293725.5	-	2	302	c.97A>G	c.(97-99)Atg>Gtg	p.M33V	ZNF563_ENST00000595977.1_Missense_Mutation_p.M33V	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	33	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)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GTTTCTTGCATCACATATCTG	0.433																																					GBM(39;623 795 5132 29510 31476)	uc002mtp.2		NA																	0					0						c.(97-99)ATG>GTG		zinc finger protein 563							148.0	130.0	136.0					19																	12433432		2203	4300	6503	SO:0001583	missense	147837				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12433432T>C	BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"""Zinc fingers, C2H2-type"", ""-"""	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.97A>G	19.37:g.12433432T>C	ENSP00000293725:p.Met33Val					ZNF563_uc002mtq.2_Missense_Mutation_p.M33V	p.M33V	NM_145276	NP_660319	Q8TA94	ZN563_HUMAN			2	335	-			33			KRAB.		B2R9E7|Q8NAT7	Missense_Mutation	SNP	ENST00000293725.5	37	c.97A>G	CCDS12270.1	.	.	.	.	.	.	.	.	.	.	T	14.39	2.521534	0.44866	.	.	ENSG00000188868	ENST00000293725;ENST00000318168	T	0.03065	4.06	1.27	1.27	0.21489	Krueppel-associated box (4);	.	.	.	.	T	0.17450	0.0419	M	0.88775	2.98	0.27739	N	0.944547	D;D	0.67145	0.996;0.995	D;D	0.77557	0.99;0.989	T	0.02751	-1.1115	9	0.72032	D	0.01	.	6.2981	0.21097	0.0:0.0:0.0:1.0	.	33;33	Q8TA94-2;Q8TA94	.;ZN563_HUMAN	V	33	ENSP00000293725:M33V	ENSP00000293725:M33V	M	-	1	0	ZNF563	12294432	0.910000	0.30920	0.811000	0.32455	0.362000	0.29581	1.729000	0.38115	0.554000	0.29061	0.254000	0.18369	ATG		0.433	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1	NM_145276		24	49	0	0	0	0	24	49				
MEF2B	100271849	broad.mit.edu	37	19	19258514	19258514	+	Missense_Mutation	SNP	C	C	A	rs372308603		TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr19:19258514C>A	ENST00000602424.2	-	6	1112	c.386G>T	c.(385-387)cGg>cTg	p.R129L	MEF2B_ENST00000162023.5_Missense_Mutation_p.R129L|MEF2BNB-MEF2B_ENST00000514819.3_Missense_Mutation_p.R146L|MEF2B_ENST00000409224.1_Missense_Mutation_p.R132L|MEF2B_ENST00000410050.1_Missense_Mutation_p.R129L|MEF2B_ENST00000424583.2_Missense_Mutation_p.R129L|MEF2BNB-MEF2B_ENST00000602276.1_5'UTR|MEF2BNB-MEF2B_ENST00000444486.3_Missense_Mutation_p.R129L|MEF2B_ENST00000409447.2_Missense_Mutation_p.R129L	NM_005919.3	NP_005910.1	Q02080	MEF2B_HUMAN	myocyte enhancer factor 2B	129					muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			TACATACAGCCGGGGTCGGGG	0.617																																						uc002nlm.2		NA																	0				skin(1)	1						c.(385-387)CGG>CTG		myocyte enhancer factor 2B isoform a							77.0	80.0	79.0					19																	19258514		2203	4300	6503	SO:0001583	missense	100271849							g.chr19:19258514C>A	X63380	CCDS12394.1, CCDS46024.1	19p13.11	2010-05-12	2007-04-24					"""Myocyte enhancer factors"""	6995	protein-coding gene	gene with protein product		600661				1516833, 8575763	Standard	NM_001145785		Approved	RSRFR2	uc002nll.2	Q02080		ENST00000602424.2:c.386G>T	19.37:g.19258514C>A	ENSP00000473308:p.Arg129Leu					MEF2B_uc002nln.2_Missense_Mutation_p.R176L|MEF2B_uc002nll.2_Missense_Mutation_p.R129L|LOC729991-MEF2B_uc010xqo.1_Missense_Mutation_p.R129L|LOC729991-MEF2B_uc010xqp.1_Missense_Mutation_p.R129L|LOC729991-MEF2B_uc002nlo.2_Missense_Mutation_p.R129L|LOC729991-MEF2B_uc002nlp.2_Missense_Mutation_p.R129L|MEF2B_uc002nlk.2_Missense_Mutation_p.R132L	p.R129L	NM_001145785	NP_001139257			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)		4	500	-								A0AV80|B4DVH7|B7ZVY1|G5E9M1	Missense_Mutation	SNP	ENST00000602424.2	37	c.386G>T	CCDS12394.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.589405	0.86851	.	.	ENSG00000213999	ENST00000409224;ENST00000424583;ENST00000410050;ENST00000444486;ENST00000409447;ENST00000162023	D;D;D;D;D	0.88586	-2.3;-2.3;-2.34;-2.4;-2.3	5.15	5.15	0.70609	.	0.165039	0.38272	N	0.001749	D	0.90858	0.7128	L	0.34521	1.04	0.45852	D	0.99871	D;D;D;D;P	0.76494	0.982;0.999;0.999;0.995;0.931	P;D;D;D;P	0.79784	0.694;0.993;0.993;0.909;0.468	D	0.91639	0.5325	10	0.66056	D	0.02	-24.1314	14.1065	0.65093	0.0:1.0:0.0:0.0	.	129;176;129;129;132	Q02080;B8ZZJ5;C9J4J4;G5E9M1;B3KQ23	MEF2B_HUMAN;.;.;.;.	L	132;129;129;129;176;129	ENSP00000386480:R132L;ENSP00000402154:R129L;ENSP00000386374:R129L;ENSP00000390762:R129L;ENSP00000162023:R129L	ENSP00000162023:R129L	R	-	2	0	MEF2B	19119514	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.245000	0.43133	2.401000	0.81631	0.561000	0.74099	CGG		0.617	MEF2B-202	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_005919		19	45	1	0	8.34e-07	9.92e-07	19	45				
RYR1	6261	broad.mit.edu	37	19	38976617	38976617	+	Silent	SNP	G	G	A	rs572516017	byFrequency	TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr19:38976617G>A	ENST00000359596.3	+	34	5322	c.5322G>A	c.(5320-5322)ccG>ccA	p.P1774P	RYR1_ENST00000360985.3_Silent_p.P1774P|RYR1_ENST00000355481.4_Silent_p.P1774P			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1774	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TGAGGCCCCCGCATCATTTCT	0.692													G|||	2	0.000399361	0.0	0.0	5008	,	,		15752	0.002		0.0	False		,,,				2504	0.0					uc002oit.2		NA																	0				ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(5320-5322)CCG>CCA		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						37.0	36.0	36.0					19																	38976617		2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38976617G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5322G>A	19.37:g.38976617G>A						RYR1_uc002oiu.2_Silent_p.P1774P	p.P1774P	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		34	5452	+	all_cancers(60;7.91e-06)		1774			Cytoplasmic.|6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.5322G>A	CCDS33011.1																																																																																				0.692	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			8	81	0	0	0	0	8	81				
MAP4K1	11184	broad.mit.edu	37	19	39100273	39100273	+	Silent	SNP	G	G	C			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr19:39100273G>C	ENST00000591517.1	-	13	997	c.969C>G	c.(967-969)cgC>cgG	p.R323R	MAP4K1_ENST00000586296.1_Silent_p.R323R|MAP4K1_ENST00000589002.1_5'UTR|MAP4K1_ENST00000589130.1_Silent_p.R319R|MAP4K1_ENST00000396857.2_Silent_p.R323R|MAP4K1_ENST00000423454.2_5'UTR	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	323					activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GAGAGCTGGAGCGGTGGGTGG	0.592																																						uc002oix.1		NA																	0				skin(4)|lung(3)|ovary(1)	8						c.(967-969)CGC>CGG		mitogen-activated protein kinase kinase kinase							48.0	52.0	50.0					19																	39100273		1963	4170	6133	SO:0001819	synonymous_variant	11184				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	g.chr19:39100273G>C	U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6863	protein-coding gene	gene with protein product	"""hematopoietic progenitor kinase 1"""	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.969C>G	19.37:g.39100273G>C						MAP4K1_uc002oiw.1_5'Flank|MAP4K1_uc002oiy.1_Silent_p.R323R|MAP4K1_uc010xug.1_5'UTR	p.R323R	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		13	1077	-	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		323						Silent	SNP	ENST00000591517.1	37	c.969C>G	CCDS59385.1																																																																																				0.592	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	NM_001042600		8	29	0	0	0	0	8	29				
SPTBN4	57731	broad.mit.edu	37	19	41062929	41062929	+	Splice_Site	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr19:41062929G>T	ENST00000352632.3	+	26	5376	c.5290G>T	c.(5290-5292)Gtg>Ttg	p.V1764L	SPTBN4_ENST00000595535.1_Splice_Site_p.V1764L|SPTBN4_ENST00000598249.1_Splice_Site_p.V1764L|SPTBN4_ENST00000338932.3_Splice_Site_p.V1764L|SPTBN4_ENST00000392025.1_Splice_Site_p.V507L|SPTBN4_ENST00000392023.1_Splice_Site_p.V440L			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1764					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTGATGGCAGGTGCTGCAGGA	0.547																																						uc002ony.2		NA																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(5290-5292)GTG>TTG		spectrin, beta, non-erythrocytic 4 isoform							26.0	25.0	26.0					19																	41062929		2191	4291	6482	SO:0001630	splice_region_variant	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41062929G>T	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.5290-1G>T	19.37:g.41062929G>T						SPTBN4_uc002onx.2_Missense_Mutation_p.V1764L|SPTBN4_uc002onz.2_Missense_Mutation_p.V1764L|SPTBN4_uc010egx.2_Missense_Mutation_p.V507L|SPTBN4_uc002ooa.2_Missense_Mutation_p.V440L	p.V1764L	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		26	5376	+			1764			Spectrin 15.		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.5290G>T	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	G	4.183	0.032545	0.08101	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000392025;ENST00000392023	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	3.59	3.59	0.41128	.	0.000000	0.56097	D	0.000033	T	0.27027	0.0662	N	0.13168	0.305	0.35059	D	0.761412	P;B;B;B	0.36199	0.543;0.001;0.083;0.008	B;B;B;B	0.34991	0.193;0.008;0.036;0.023	T	0.34551	-0.9824	9	.	.	.	.	10.0027	0.41938	0.0:0.3499:0.6501:0.0	.	507;440;1764;1764	C9JY79;E9PGQ5;Q9H254;Q71S06	.;.;SPTN4_HUMAN;.	L	1764;1764;1764;507;440	ENSP00000263373:V1764L;ENSP00000340345:V1764L;ENSP00000375879:V507L;ENSP00000375877:V440L	.	V	+	1	0	SPTBN4	45754769	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	0.863000	0.27913	2.004000	0.58718	0.455000	0.32223	GTG		0.547	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2		Missense_Mutation	8	31	1	0	1.13e-05	1.29e-05	8	31				
ZNF230	7773	broad.mit.edu	37	19	44515025	44515025	+	Silent	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr19:44515025G>A	ENST00000429154.2	+	5	1062	c.834G>A	c.(832-834)aaG>aaA	p.K278K		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	278					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				CTGGGGAGAAGCCGTTCAAAT	0.423																																					GBM(175;914 2069 22996 47111 52600)	uc002oyb.1		NA																	0					0						c.(832-834)AAG>AAA		zinc finger protein 230							122.0	127.0	125.0					19																	44515025		2203	4300	6503	SO:0001819	synonymous_variant	7773				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44515025G>A	U95044	CCDS33044.1	19q13.31	2013-01-08				ENSG00000159882		"""Zinc fingers, C2H2-type"", ""-"""	13024	protein-coding gene	gene with protein product							Standard	NM_006300		Approved	FDZF2	uc002oyb.1	Q9UIE0		ENST00000429154.2:c.834G>A	19.37:g.44515025G>A							p.K278K	NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN			5	1085	+		Prostate(69;0.0352)	278					O15322|Q504X7|Q86W84|Q9P1U6	Silent	SNP	ENST00000429154.2	37	c.834G>A	CCDS33044.1																																																																																				0.423	ZNF230-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460456.1			21	94	0	0	0	0	21	94				
PNMAL1	55228	broad.mit.edu	37	19	46973549	46973549	+	Silent	SNP	C	C	T	rs554105663|rs200109291	byFrequency	TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr19:46973549C>T	ENST00000313683.10	-	2	1049	c.744G>A	c.(742-744)aaG>aaA	p.K248K	PNMAL1_ENST00000438932.2_Silent_p.K248K|PNMAL1_ENST00000602246.1_Intron	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	248										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		GCCTGGAGTTCTTCTTCTGCT	0.522																																						uc002peq.3		NA																	0					0						c.(742-744)AAG>AAA		PNMA-like 1 isoform a							89.0	90.0	90.0					19																	46973549		2203	4300	6503	SO:0001819	synonymous_variant	55228							g.chr19:46973549C>T	BC026026	CCDS33059.1, CCDS46124.1	19q13.32	2014-02-12	2012-02-09			ENSG00000182013		"""Paraneoplastic Ma antigens"""	25578	protein-coding gene	gene with protein product			"""PNMA-like 1"""			12477932	Standard	NM_018215		Approved	KIAA1183L, FLJ10781	uc002peq.4	Q86V59		ENST00000313683.10:c.744G>A	19.37:g.46973549C>T						PNMAL1_uc002per.3_Silent_p.K248K	p.K248K	NM_018215	NP_060685	Q86V59	PNML1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	2	1050	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	248					A8K2F3|Q5U638|Q8N3H4|Q9NVE8	Silent	SNP	ENST00000313683.10	37	c.744G>A	CCDS33059.1																																																																																				0.522	PNMAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403929.1	NM_018215		20	142	0	0	0	0	20	142				
PLA2G4C	8605	broad.mit.edu	37	19	48601480	48601480	+	Missense_Mutation	SNP	C	C	A	rs189489992		TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr19:48601480C>A	ENST00000599921.1	-	6	841	c.484G>T	c.(484-486)Gtg>Ttg	p.V162L	PLA2G4C_ENST00000354276.3_Missense_Mutation_p.V162L|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.V162L|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.V172L			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	162	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		CCTTCTTCCACGGGCTTCTTC	0.527																																						uc002phx.2		NA																	0				ovary(1)|skin(1)	2						c.(484-486)GTG>TTG		phospholipase A2, group IVC isoform 1 precursor							122.0	103.0	109.0					19																	48601480		2203	4300	6503	SO:0001583	missense	8605				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding	g.chr19:48601480C>A	AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.484G>T	19.37:g.48601480C>A	ENSP00000469473:p.Val162Leu					PLA2G4C_uc002phw.2_Missense_Mutation_p.V97L|PLA2G4C_uc010elr.2_Missense_Mutation_p.V162L|PLA2G4C_uc010xzd.1_Missense_Mutation_p.V172L|PLA2G4C_uc002phy.3_Missense_Mutation_p.V162L	p.V162L	NM_003706	NP_003697	Q9UP65	PA24C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)	6	882	-		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)	162			PLA2c.		B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Missense_Mutation	SNP	ENST00000599921.1	37	c.484G>T	CCDS12710.1	.	.	.	.	.	.	.	.	.	.	C	6.563	0.472188	0.12461	.	.	ENSG00000105499	ENST00000354276;ENST00000413144	T;T	0.11063	2.81;2.81	2.88	1.69	0.24217	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	1.224290	0.06224	U	0.687318	T	0.07324	0.0185	N	0.16066	0.365	0.09310	N	1	B;P;P	0.35124	0.151;0.485;0.485	B;B;B	0.39660	0.097;0.226;0.306	T	0.35025	-0.9805	10	0.12103	T	0.63	-10.866	6.4556	0.21928	0.2899:0.7101:0.0:0.0	.	172;162;162	B4DI40;Q8WWC5;Q9UP65	.;.;PA24C_HUMAN	L	162	ENSP00000346228:V162L;ENSP00000400036:V162L	ENSP00000346228:V162L	V	-	1	0	PLA2G4C	53293292	0.006000	0.16342	0.217000	0.23759	0.207000	0.24258	0.285000	0.18883	1.622000	0.50330	0.405000	0.27470	GTG		0.527	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1			27	82	1	0	1.75e-13	2.3e-13	27	82				
PRR12	57479	broad.mit.edu	37	19	50098459	50098459	+	Silent	SNP	C	C	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr19:50098459C>T	ENST00000418929.2	+	4	879	c.867C>T	c.(865-867)atC>atT	p.I289I		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		ACACGGTCATCAAGCACTACC	0.697																																						uc002poo.3		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(865-867)ATC>ATT		proline rich 12							4.0	5.0	5.0					19																	50098459		1581	3412	4993	SO:0001819	synonymous_variant	57479						DNA binding	g.chr19:50098459C>T	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.867C>T	19.37:g.50098459C>T							p.I289I	NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	4	867	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					E9PB06|Q8N4J6	Silent	SNP	ENST00000418929.2	37	c.867C>T	CCDS46143.1																																																																																				0.697	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		5	12	0	0	0	0	5	12				
ZNF665	79788	broad.mit.edu	37	19	53668172	53668172	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr19:53668172C>A	ENST00000600412.1	-	2	1491	c.1376G>T	c.(1375-1377)aGt>aTt	p.S459I	CTD-2245F17.2_ENST00000600257.1_RNA|ZNF665_ENST00000396424.3_Missense_Mutation_p.S524I			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	459					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TGAATGAACACTAAAGGCTTT	0.393																																						uc010eqm.1		NA																	0				ovary(2)	2						c.(1570-1572)AGT>ATT		zinc finger protein 665							142.0	151.0	148.0					19																	53668172		2203	4300	6503	SO:0001583	missense	79788				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53668172C>A		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.1376G>T	19.37:g.53668172C>A	ENSP00000469154:p.Ser459Ile						p.S524I	NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN		GBM - Glioblastoma multiforme(134;0.0196)	4	1671	-			459			C2H2-type 13.		A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37	c.1571G>T		.	.	.	.	.	.	.	.	.	.	C	14.00	2.405884	0.42715	.	.	ENSG00000197497	ENST00000396424	T	0.07908	3.15	2.26	-4.52	0.03472	.	.	.	.	.	T	0.13586	0.0329	L	0.58354	1.805	0.09310	N	1	D	0.65815	0.995	P	0.61201	0.885	T	0.04360	-1.0957	9	0.28530	T	0.3	.	2.8199	0.05468	0.1194:0.486:0.1734:0.2211	.	524	Q9H7R5-2	.	I	524	ENSP00000379702:S524I	ENSP00000379702:S524I	S	-	2	0	ZNF665	58359984	0.000000	0.05858	0.000000	0.03702	0.724000	0.41520	-2.944000	0.00681	-1.204000	0.02648	0.411000	0.27672	AGT		0.393	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		47	121	1	0	1.62e-14	2.15e-14	47	121				
MBOAT7	79143	broad.mit.edu	37	19	54677883	54677883	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr19:54677883T>G	ENST00000245615.1	-	8	1754	c.1274A>C	c.(1273-1275)tAc>tCc	p.Y425S	TMC4_ENST00000476013.2_5'Flank|TMC4_ENST00000376591.4_5'Flank|MBOAT7_ENST00000431666.2_Missense_Mutation_p.Y352S|MBOAT7_ENST00000338624.6_Missense_Mutation_p.Y352S|TMC4_ENST00000301187.4_5'Flank	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	425					glycerophospholipid biosynthetic process (GO:0046474)|layer formation in cerebral cortex (GO:0021819)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|ventricular system development (GO:0021591)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipid acyltransferase activity (GO:0071617)			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGAGGCCCAGTACCGAAGGGT	0.637																																					NSCLC(97;826 2151 10470 22540)	uc002qdq.2		NA																	0					0						c.(1273-1275)TAC>TCC		membrane bound O-acyltransferase domain							104.0	93.0	97.0					19																	54677883		2203	4300	6503	SO:0001583	missense	79143				phospholipid biosynthetic process	integral to membrane	acyltransferase activity	g.chr19:54677883T>G	AF211969	CCDS12883.1, CCDS54315.1, CCDS54316.1	19q13.4	2008-12-15	2008-01-17	2008-01-17	ENSG00000125505	ENSG00000125505			15505	protein-coding gene	gene with protein product	"""lysophosphatidylinositol acyltransferase"""	606048	"""leukocyte receptor cluster (LRC) member 4"""	LENG4		10941842, 8702217, 18094042	Standard	NM_024298		Approved	BB1, hMBOA-7, LPIAT	uc002qdr.3	Q96N66	OTTHUMG00000066516	ENST00000245615.1:c.1274A>C	19.37:g.54677883T>G	ENSP00000245615:p.Tyr425Ser					TMC4_uc010erf.2_5'Flank|TMC4_uc002qdo.2_5'Flank|MBOAT7_uc010erg.2_Missense_Mutation_p.Y109S|MBOAT7_uc010yem.1_Missense_Mutation_p.Y407S|MBOAT7_uc002qdr.2_Missense_Mutation_p.Y425S|MBOAT7_uc002qds.2_Missense_Mutation_p.Y352S|MBOAT7_uc010yen.1_Missense_Mutation_p.Y352S	p.Y425S	NM_024298	NP_077274	Q96N66	MBOA7_HUMAN			9	1540	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		425					A9C4B6|B0V3I5|B4DQ87|Q05DF0|Q7L5N2|Q99908|Q9BPV2|Q9BRE9	Missense_Mutation	SNP	ENST00000245615.1	37	c.1274A>C	CCDS12883.1	.	.	.	.	.	.	.	.	.	.	t	22.2	4.264762	0.80358	.	.	ENSG00000125505	ENST00000431666;ENST00000338624;ENST00000245615	T;T;T	0.18016	2.24;2.24;2.25	4.79	4.79	0.61399	.	0.256188	0.40222	N	0.001152	T	0.38506	0.1043	L	0.61218	1.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.997;0.999;0.942	T	0.16217	-1.0410	10	0.59425	D	0.04	-20.5566	13.6454	0.62279	0.0:0.0:0.0:1.0	.	407;352;425	B4DDH8;Q96N66-2;Q96N66	.;.;MBOA7_HUMAN	S	352;352;425	ENSP00000410503:Y352S;ENSP00000344377:Y352S;ENSP00000245615:Y425S	ENSP00000245615:Y425S	Y	-	2	0	MBOAT7	59369695	1.000000	0.71417	0.996000	0.52242	0.787000	0.44495	5.297000	0.65704	1.936000	0.56123	0.393000	0.25936	TAC		0.637	MBOAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142203.1	NM_024298		18	103	0	0	0	0	18	103				
VSNL1	7447	broad.mit.edu	37	2	17836566	17836566	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr2:17836566A>T	ENST00000406397.1	+	4	1006	c.481A>T	c.(481-483)Aac>Tac	p.N161Y	VSNL1_ENST00000404666.2_Missense_Mutation_p.N161Y|VSNL1_ENST00000295156.4_Missense_Mutation_p.N161Y			P62760	VISL1_HUMAN	visinin-like 1	161	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium-mediated signaling (GO:0019722)		calcium ion binding (GO:0005509)			NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GATGGATAAGAACAAAGATGA	0.428																																						uc002rcm.2		NA																	0				ovary(1)	1						c.(481-483)AAC>TAC		visinin-like 1							127.0	109.0	115.0					2																	17836566		2203	4300	6503	SO:0001583	missense	7447						calcium ion binding	g.chr2:17836566A>T		CCDS1689.1	2p24.3	2013-01-10			ENSG00000163032	ENSG00000163032		"""EF-hand domain containing"""	12722	protein-coding gene	gene with protein product	"""hippocalcin-like protein 3"""	600817				8530085, 2202488	Standard	NM_003385		Approved	VILIP, HPCAL3, HUVISL1, HLP3, VILIP-1	uc002rcm.3	P62760	OTTHUMG00000090645	ENST00000406397.1:c.481A>T	2.37:g.17836566A>T	ENSP00000384719:p.Asn161Tyr						p.N161Y	NM_003385	NP_003376	P62760	VISL1_HUMAN			4	865	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		161			3 (Potential).|EF-hand 4.		D6W515|P28677|P29103|P42323|Q9UM20	Missense_Mutation	SNP	ENST00000406397.1	37	c.481A>T	CCDS1689.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.159898	0.78226	.	.	ENSG00000163032	ENST00000404666;ENST00000295156;ENST00000406397	T;T;T	0.78481	-1.18;-1.18;-1.18	5.58	5.58	0.84498	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.92463	0.7607	H	0.98849	4.35	0.80722	D	1	D	0.56035	0.974	P	0.62014	0.897	D	0.95376	0.8469	10	0.87932	D	0	.	15.7372	0.77853	1.0:0.0:0.0:0.0	.	161	P62760	VISL1_HUMAN	Y	161	ENSP00000384014:N161Y;ENSP00000295156:N161Y;ENSP00000384719:N161Y	ENSP00000295156:N161Y	N	+	1	0	VSNL1	17700047	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.119000	0.64992	0.528000	0.53228	AAC		0.428	VSNL1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323803.1	NM_003385		26	26	0	0	0	0	26	26				
GTF3C2	2976	broad.mit.edu	37	2	27550056	27550056	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr2:27550056C>G	ENST00000359541.2	-	18	2934	c.2505G>C	c.(2503-2505)gaG>gaC	p.E835D	MPV17_ENST00000357186.6_5'Flank|GTF3C2_ENST00000264720.3_Missense_Mutation_p.E835D			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	835					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TATGAATAGCCTCCAGCTGCA	0.542																																						uc002rjv.1		NA																	0				ovary(1)|skin(1)	2						c.(2503-2505)GAG>GAC		general transcription factor IIIC, polypeptide							72.0	60.0	64.0					2																	27550056		2203	4300	6503	SO:0001583	missense	2976					transcription factor TFIIIC complex		g.chr2:27550056C>G	D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"""General transcription factors"", ""WD repeat domain containing"""	4665	protein-coding gene	gene with protein product		604883	"""general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"""			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.2505G>C	2.37:g.27550056C>G	ENSP00000352536:p.Glu835Asp					MPV17_uc002rjt.2_5'Flank|GTF3C2_uc010eyy.1_Missense_Mutation_p.E290D|GTF3C2_uc002rju.1_Missense_Mutation_p.E846D|GTF3C2_uc002rjw.1_Missense_Mutation_p.E835D	p.E835D	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN			19	2868	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		835			WD 4.		D6W557|Q16632|Q9BWI7	Missense_Mutation	SNP	ENST00000359541.2	37	c.2505G>C	CCDS1749.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	c|c|c	15.39|15.39|15.39	2.819016|2.819016|2.819016	0.50633|0.50633|0.50633	.|.|.	.|.|.	ENSG00000115207|ENSG00000115207|ENSG00000115207	ENST00000359541;ENST00000264720|ENST00000457098|ENST00000431028;ENST00000454704;ENST00000415683	T;T|.|.	0.62232|.|.	0.04;0.04|.|.	4.95|4.95|4.95	1.41|1.41|1.41	0.22369|0.22369|0.22369	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.|.	0.263574|.|.	0.37483|.|.	N|.|.	0.002064|.|.	T|T|T	0.30947|0.30947|0.30947	0.0781|0.0781|0.0781	N|N|N	0.19112|0.19112|0.19112	0.55|0.55|0.55	0.33365|0.33365|0.33365	D|D|D	0.572886|0.572886|0.572886	D|.|.	0.69078|.|.	0.997|.|.	D|.|.	0.72625|.|.	0.978|.|.	T|T|T	0.36792|0.36792|0.36792	-0.9733|-0.9733|-0.9733	10|5|5	0.21540|.|.	T|.|.	0.41|.|.	-17.7436|-17.7436|-17.7436	6.2093|6.2093|6.2093	0.20619|0.20619|0.20619	0.0:0.5624:0.0:0.4376|0.0:0.5624:0.0:0.4376|0.0:0.5624:0.0:0.4376	.|.|.	835|.|.	Q8WUA4|.|.	TF3C2_HUMAN|.|.	D|R|T	835|129|50;344;258	ENSP00000352536:E835D;ENSP00000264720:E835D|.|.	ENSP00000264720:E835D|.|.	E|G|R	-|-|-	3|1|2	2|0|0	GTF3C2|GTF3C2|GTF3C2	27403560|27403560|27403560	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.997000|0.997000|0.997000	0.53966|0.53966|0.53966	0.981000|0.981000|0.981000	0.71138|0.71138|0.71138	0.594000|0.594000|0.594000	0.24014|0.24014|0.24014	0.067000|0.067000|0.067000	0.16545|0.16545|0.16545	0.651000|0.651000|0.651000	0.88453|0.88453|0.88453	GAG|GGC|AGG		0.542	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215028.2			6	42	0	0	0	0	6	42				
LHCGR	3973	broad.mit.edu	37	2	48936097	48936097	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr2:48936097G>T	ENST00000294954.7	-	8	691	c.670C>A	c.(670-672)Ccg>Acg	p.P224T	STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.P224T|LHCGR_ENST00000344775.3_Missense_Mutation_p.P224T|LHCGR_ENST00000403273.1_Missense_Mutation_p.P224T|LHCGR_ENST00000401907.1_Missense_Mutation_p.P224T	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	224					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	AAGGTTTTCGGCCCTGTGGCC	0.542																																						uc002rwu.3		NA																	0				ovary(3)|lung(2)|breast(2)|skin(1)	8						c.(670-672)CCG>ACG		luteinizing hormone/choriogonadotropin receptor	Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)						229.0	196.0	207.0					2																	48936097		2203	4300	6503	SO:0001583	missense	3973	Familial_Male-Limited_Precocious_Puberty			male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	g.chr2:48936097G>T		CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"""GPCR / Class A : Gonadotropin and TSH receptors"""	6585	protein-coding gene	gene with protein product		152790	"""hypergonadotropic hypogonadism"""	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.670C>A	2.37:g.48936097G>T	ENSP00000294954:p.Pro224Thr					GTF2A1L_uc002rwt.2_Intron|LHCGR_uc002rwv.2_RNA	p.P224T	NM_000233	NP_000224	P22888	LSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		8	740	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	224			Extracellular (Potential).|LRR 6.		Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP	ENST00000294954.7	37	c.670C>A	CCDS1842.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.442286	0.63067	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626;ENST00000403273;ENST00000401907	D;D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71;-1.71	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.93112	0.7807	M	0.93375	3.41	0.51482	D	0.999922	D	0.89917	1.0	D	0.97110	1.0	D	0.94513	0.7720	9	.	.	.	.	15.2364	0.73436	0.0:0.0:1.0:0.0	.	224	P22888	LSHR_HUMAN	T	224	ENSP00000344301:P224T;ENSP00000294954:P224T;ENSP00000386033:P224T;ENSP00000385847:P224T;ENSP00000385406:P224T	.	P	-	1	0	LHCGR	48789601	1.000000	0.71417	0.997000	0.53966	0.552000	0.35366	4.584000	0.60971	2.617000	0.88574	0.655000	0.94253	CCG		0.542	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	NM_000233.3		32	149	1	0	6.03e-25	8.38e-25	32	149				
NRXN1	9378	broad.mit.edu	37	2	51255050	51255050	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr2:51255050C>A	ENST00000406316.2	-	2	1838	c.362G>T	c.(361-363)cGc>cTc	p.R121L	NRXN1_ENST00000401669.2_Missense_Mutation_p.R121L|NRXN1_ENST00000405472.3_Missense_Mutation_p.R121L|NRXN1_ENST00000405581.1_Missense_Mutation_p.R121L|NRXN1_ENST00000406859.3_Missense_Mutation_p.R121L|NRXN1_ENST00000402717.3_Missense_Mutation_p.R121L|NRXN1_ENST00000404971.1_Missense_Mutation_p.R121L	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	121	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCGGAACTGGCGGCGGATGCG	0.647																																						uc010fbq.2		NA																	0				ovary(2)	2						c.(361-363)CGC>CTC		neurexin 1 isoform alpha2 precursor							28.0	33.0	31.0					2																	51255050		2110	4209	6319	SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:51255050C>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.362G>T	2.37:g.51255050C>A	ENSP00000384311:p.Arg121Leu					NRXN1_uc002rxe.3_Missense_Mutation_p.R121L|NRXN1_uc002rxd.1_Missense_Mutation_p.R121L	p.R121L	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		2	1839	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	184			Extracellular (Potential).|Laminin G-like.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.362G>T	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.977367	0.92982	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859;ENST00000405581	T;T;T;T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42;-1.42;-1.42;-1.42	4.97	4.97	0.65823	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.26711	U	0.022893	D	0.91597	0.7345	M	0.90705	3.14	0.47659	D	0.999481	D;D;B	0.89917	1.0;0.999;0.029	D;D;B	0.91635	0.999;0.998;0.003	D	0.92546	0.6046	10	0.49607	T	0.09	.	18.2347	0.89946	0.0:1.0:0.0:0.0	.	121;121;121	Q9ULB1-3;F8WB18;Q9ULB1	.;.;NRX1A_HUMAN	L	121	ENSP00000385142:R121L;ENSP00000384311:R121L;ENSP00000434015:R121L;ENSP00000385017:R121L;ENSP00000385434:R121L;ENSP00000385681:R121L;ENSP00000385310:R121L	ENSP00000385017:R121L	R	-	2	0	NRXN1	51108554	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	5.959000	0.70339	2.293000	0.77203	0.563000	0.77884	CGC		0.647	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			22	33	1	0	2.38e-13	3.11e-13	22	33				
DYSF	8291	broad.mit.edu	37	2	71778282	71778282	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr2:71778282G>A	ENST00000258104.3	+	18	1911	c.1634G>A	c.(1633-1635)gGc>gAc	p.G545D	DYSF_ENST00000394120.2_Missense_Mutation_p.G546D|DYSF_ENST00000409366.1_Missense_Mutation_p.G546D|DYSF_ENST00000413539.2_Missense_Mutation_p.G576D|DYSF_ENST00000429174.2_Missense_Mutation_p.G545D|DYSF_ENST00000409582.3_Missense_Mutation_p.G562D|DYSF_ENST00000409762.1_Missense_Mutation_p.G562D|DYSF_ENST00000410020.3_Missense_Mutation_p.G563D|DYSF_ENST00000409651.1_Missense_Mutation_p.G577D|DYSF_ENST00000409744.1_Missense_Mutation_p.G532D|DYSF_ENST00000410041.1_Missense_Mutation_p.G563D	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	545					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CTCAACACAGGCAAGGTAAGC	0.627																																						uc002sie.2		NA																	0				ovary(3)|breast(2)|pancreas(1)|skin(1)	7						c.(1633-1635)GGC>GAC		dysferlin isoform 8							76.0	77.0	77.0					2																	71778282		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71778282G>A	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.1634G>A	2.37:g.71778282G>A	ENSP00000258104:p.Gly545Asp					DYSF_uc010feg.2_Missense_Mutation_p.G576D|DYSF_uc010feh.2_Missense_Mutation_p.G531D|DYSF_uc002sig.3_Missense_Mutation_p.G531D|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.G545D|DYSF_uc010fef.2_Missense_Mutation_p.G562D|DYSF_uc010fei.2_Missense_Mutation_p.G562D|DYSF_uc010fek.2_Missense_Mutation_p.G563D|DYSF_uc010fej.2_Missense_Mutation_p.G532D|DYSF_uc010fel.2_Missense_Mutation_p.G532D|DYSF_uc010feo.2_Missense_Mutation_p.G577D|DYSF_uc010fem.2_Missense_Mutation_p.G546D|DYSF_uc010fen.2_Missense_Mutation_p.G563D|DYSF_uc002sif.2_Missense_Mutation_p.G546D	p.G545D	NM_003494	NP_003485	O75923	DYSF_HUMAN			18	2010	+			545			Cytoplasmic (Potential).		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.1634G>A	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.485850	0.84854	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.85955	-2.05;-2.03;-2.03;-2.02;-2.02;-2.05;-2.02;-2.01;-2.02;-2.03;-2.03	5.23	5.23	0.72850	.	0.056329	0.64402	D	0.000001	D	0.93413	0.7899	M	0.88570	2.965	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.996;1.0;1.0;1.0;1.0;1.0;1.0	D	0.94447	0.7664	10	0.72032	D	0.01	-24.3766	16.3039	0.82841	0.0:0.0:1.0:0.0	.	577;563;546;532;563;532;562;531;576;562;545;531;546;545	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	D	576;562;562;545;545;577;546;532;546;563;563	ENSP00000407046:G576D;ENSP00000387137:G562D;ENSP00000386547:G562D;ENSP00000398305:G545D;ENSP00000258104:G545D;ENSP00000386683:G577D;ENSP00000377678:G546D;ENSP00000386285:G532D;ENSP00000386512:G546D;ENSP00000386881:G563D;ENSP00000386617:G563D	ENSP00000258104:G545D	G	+	2	0	DYSF	71631790	1.000000	0.71417	0.990000	0.47175	0.677000	0.39632	7.957000	0.87870	2.418000	0.82041	0.655000	0.94253	GGC		0.627	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		38	53	0	0	0	0	38	53				
PTCD3	55037	broad.mit.edu	37	2	86352147	86352147	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr2:86352147C>T	ENST00000254630.7	+	10	812	c.746C>T	c.(745-747)tCt>tTt	p.S249F	PTCD3_ENST00000409277.3_Missense_Mutation_p.L208F	NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	249					mitochondrial translation (GO:0032543)|regulation of translation (GO:0006417)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						AGAATCTTTTCTCTAATGCCA	0.368																																						uc002sqw.2		NA																	0				ovary(1)	1						c.(745-747)TCT>TTT		pentatricopeptide repeat domain 3 precursor							94.0	91.0	92.0					2																	86352147		2203	4300	6503	SO:0001583	missense	55037					mitochondrion	protein binding	g.chr2:86352147C>T		CCDS33235.1	2p11.2	2014-02-12	2012-02-24		ENSG00000132300	ENSG00000132300			24717	protein-coding gene	gene with protein product		614918				8889548	Standard	NM_017952		Approved	FLJ20758, DKFZp666K071	uc002sqw.2	Q96EY7	OTTHUMG00000153168	ENST00000254630.7:c.746C>T	2.37:g.86352147C>T	ENSP00000254630:p.Ser249Phe					PTCD3_uc010ytc.1_RNA|PTCD3_uc002sqx.1_5'UTR	p.S249F	NM_017952	NP_060422	Q96EY7	PTCD3_HUMAN			10	812	+			249					A6NHD2|D6W5M1|Q597H0|Q658Y9|Q9BUZ8|Q9NWL0	Missense_Mutation	SNP	ENST00000254630.7	37	c.746C>T	CCDS33235.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.96|19.96	3.923982|3.923982	0.73213|0.73213	.|.	.|.	ENSG00000132300|ENSG00000132300	ENST00000409277|ENST00000254630	T|T	0.56275|0.30981	0.47|1.51	5.63|5.63	3.69|3.69	0.42338|0.42338	.|.	.|0.560887	.|0.21084	.|N	.|0.080426	T|T	0.40815|0.40815	0.1132|0.1132	M|M	0.63208|0.63208	1.945|1.945	0.18873|0.18873	N|N	0.999986|0.999986	.|P	.|0.48764	.|0.915	.|P	.|0.54924	.|0.764	T|T	0.17745|0.17745	-1.0359|-1.0359	6|10	.|0.56958	.|D	.|0.05	-11.1035|-11.1035	7.3939|7.3939	0.26926|0.26926	0.2743:0.4859:0.2398:0.0|0.2743:0.4859:0.2398:0.0	.|.	.|249	.|Q96EY7	.|PTCD3_HUMAN	F|F	208|249	ENSP00000386462:L208F|ENSP00000254630:S249F	.|ENSP00000254630:S249F	L|S	+|+	1|2	0|0	PTCD3|PTCD3	86205658|86205658	0.991000|0.991000	0.36638|0.36638	1.000000|1.000000	0.80357|0.80357	0.950000|0.950000	0.60333|0.60333	2.760000|2.760000	0.47581|0.47581	2.654000|2.654000	0.90174|0.90174	0.655000|0.655000	0.94253|0.94253	CTC|TCT		0.368	PTCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329854.1	NM_017952		5	35	0	0	0	0	5	35				
SMYD1	150572	broad.mit.edu	37	2	88407935	88407935	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr2:88407935G>A	ENST00000419482.2	+	9	1276	c.1191G>A	c.(1189-1191)atG>atA	p.M397I	SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Missense_Mutation_p.M384I	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	397					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						TGGCCGTGATGCGGGCAGGGC	0.542																																						uc002ssr.2		NA																	0				ovary(2)|lung(1)|skin(1)	4						c.(1189-1191)ATG>ATA		SET and MYND domain containing 1							117.0	94.0	102.0					2																	88407935		2203	4300	6503	SO:0001583	missense	150572				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr2:88407935G>A	AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.1191G>A	2.37:g.88407935G>A	ENSP00000393453:p.Met397Ile					SMYD1_uc002ssq.1_Intron|SMYD1_uc002sss.2_Missense_Mutation_p.M93I	p.M397I	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN			9	1193	+			397					A0AV30|A6NE13	Missense_Mutation	SNP	ENST00000419482.2	37	c.1191G>A	CCDS33240.1	.	.	.	.	.	.	.	.	.	.	g	27.3	4.815234	0.90790	.	.	ENSG00000115593	ENST00000419482;ENST00000444564;ENST00000295833	T;T	0.25414	1.8;1.82	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.45558	0.1348	M	0.75447	2.3	0.80722	D	1	P	0.46064	0.872	P	0.52793	0.709	T	0.49312	-0.8953	10	0.66056	D	0.02	-32.1001	17.1527	0.86781	0.0:0.0:1.0:0.0	.	397	Q8NB12	SMYD1_HUMAN	I	397;384;218	ENSP00000393453:M397I;ENSP00000407888:M384I	ENSP00000295833:M218I	M	+	3	0	SMYD1	88189050	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.468000	0.97676	2.288000	0.76882	0.454000	0.30748	ATG		0.542	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338229.2	XM_097915		29	36	0	0	0	0	29	36				
BUB1	699	broad.mit.edu	37	2	111416240	111416240	+	Silent	SNP	C	C	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr2:111416240C>T	ENST00000302759.6	-	12	1474	c.1356G>A	c.(1354-1356)acG>acA	p.T452T	BUB1_ENST00000535254.1_Silent_p.T432T|BUB1_ENST00000409311.1_Silent_p.T452T	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	452					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.T452T(1)		breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		CTTTGGATGGCGTTGCCTGAA	0.433																																						uc002tgc.2		NA																	1	Substitution - coding silent(1)		large_intestine(1)	lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1)	7						c.(1354-1356)ACG>ACA		budding uninhibited by benzimidazoles 1							226.0	192.0	204.0					2																	111416240		2203	4300	6503	SO:0001819	synonymous_variant	699				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:111416240C>T	AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.1356G>A	2.37:g.111416240C>T						BUB1_uc010yxh.1_Silent_p.T432T|BUB1_uc010fkb.2_Silent_p.T452T	p.T452T	NM_004336	NP_004327	O43683	BUB1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0556)	12	1468	-		Ovarian(717;0.0822)	452					E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Silent	SNP	ENST00000302759.6	37	c.1356G>A	CCDS33273.1																																																																																				0.433	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1	NM_004336		17	34	0	0	0	0	17	34				
MAP3K19	80122	broad.mit.edu	37	2	135743820	135743820	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr2:135743820A>T	ENST00000375845.3	-	7	2652	c.2622T>A	c.(2620-2622)aaT>aaA	p.N874K	MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.N891K|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000358371.4_Missense_Mutation_p.N761K|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	874							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										GAGATGCTGTATTCTGCTTTT	0.378																																						uc002tue.1		NA																	0				stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5						c.(2620-2622)AAT>AAA		Yeast Sps1/Ste20-related kinase 4 isoform 1							109.0	109.0	109.0					2																	135743820		2203	4300	6503	SO:0001583	missense	80122						ATP binding|protein serine/threonine kinase activity	g.chr2:135743820A>T	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.2622T>A	2.37:g.135743820A>T	ENSP00000365005:p.Asn874Lys					YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.N761K|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Missense_Mutation_p.N602K|YSK4_uc002tui.3_Missense_Mutation_p.N891K	p.N874K	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	7	2653	-			874					B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.2622T>A	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	A	1.689	-0.504408	0.04261	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915;ENST00000437365	T;T;T;T	0.72282	-0.55;-0.53;1.76;-0.64	4.53	-4.44	0.03557	.	1.262760	0.05471	N	0.553079	T	0.46619	0.1402	N	0.20685	0.6	0.09310	N	0.999999	B;B;B	0.14438	0.01;0.004;0.006	B;B;B	0.14578	0.01;0.011;0.005	T	0.14559	-1.0468	10	0.27785	T	0.31	.	0.268	0.00227	0.321:0.1444:0.2536:0.281	.	761;891;874	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	K	874;761;891;264	ENSP00000365005:N874K;ENSP00000351140:N761K;ENSP00000376647:N891K;ENSP00000392827:N264K	ENSP00000351140:N761K	N	-	3	2	YSK4	135460290	0.000000	0.05858	0.000000	0.03702	0.104000	0.19210	-0.640000	0.05440	-0.940000	0.03705	0.374000	0.22700	AAT		0.378	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		22	42	0	0	0	0	22	42				
CACNB4	785	broad.mit.edu	37	2	152698521	152698521	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr2:152698521G>A	ENST00000539935.1	-	13	1265	c.1198C>T	c.(1198-1200)Cgt>Tgt	p.R400C	CACNB4_ENST00000201943.5_Intron|CACNB4_ENST00000360283.6_Missense_Mutation_p.R367C|CACNB4_ENST00000534999.1_Missense_Mutation_p.R366C|CACNB4_ENST00000397327.2_Missense_Mutation_p.R353C|CACNB4_ENST00000427385.1_Missense_Mutation_p.R382C	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	400					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|cAMP metabolic process (GO:0046058)|cellular calcium ion homeostasis (GO:0006874)|detection of light stimulus involved in visual perception (GO:0050908)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|membrane depolarization (GO:0051899)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|neuronal action potential propagation (GO:0019227)|Peyer's patch development (GO:0048541)|regulation of voltage-gated calcium channel activity (GO:1901385)|spleen development (GO:0048536)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)|transport (GO:0006810)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	TGGGTGGCACGCCAGTACGCC	0.493																																						uc002tya.2		NA																	0				ovary(2)	2						c.(1198-1200)CGT>TGT		calcium channel, voltage-dependent, beta 4	Verapamil(DB00661)						126.0	128.0	128.0					2																	152698521		2082	4216	6298	SO:0001583	missense	785				axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr2:152698521G>A	AF038852	CCDS46426.1, CCDS46427.1, CCDS46428.1, CCDS54409.1	2q22-q23	2009-09-04			ENSG00000182389	ENSG00000182389		"""Calcium channel subunits"""	1404	protein-coding gene	gene with protein product		601949				9628818	Standard	NM_000726		Approved	EJM4	uc002tya.3	O00305	OTTHUMG00000155091	ENST00000539935.1:c.1198C>T	2.37:g.152698521G>A	ENSP00000438949:p.Arg400Cys					CACNB4_uc002txy.2_Missense_Mutation_p.R366C|CACNB4_uc002txz.2_Missense_Mutation_p.R382C|CACNB4_uc010fnz.2_Intron	p.R400C	NM_000726	NP_000717	O00305	CACB4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.156)	13	1266	-			400					A7BJ74|A8K1Y4|B4DG40|O60515|Q6B000|Q96L40	Missense_Mutation	SNP	ENST00000539935.1	37	c.1198C>T	CCDS46426.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183130	0.78677	.	.	ENSG00000182389	ENST00000539935;ENST00000360283;ENST00000439467;ENST00000534999;ENST00000397327;ENST00000427385;ENST00000339254	D;D;D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7;-1.7;-1.7	5.24	4.3	0.51218	.	0.053219	0.64402	D	0.000005	D	0.83211	0.5205	L	0.43152	1.355	0.80722	D	1	D;D;D	0.71674	0.996;0.996;0.998	P;P;P	0.53224	0.65;0.65;0.721	D	0.85116	0.0966	10	0.87932	D	0	-9.3268	13.4494	0.61161	0.0:0.0:0.6603:0.3397	.	400;382;366	O00305;B4DG40;O00305-2	CACB4_HUMAN;.;.	C	400;367;395;366;353;382;401	ENSP00000438949:R400C;ENSP00000353425:R367C;ENSP00000390161:R395C;ENSP00000443893:R366C;ENSP00000380490:R353C;ENSP00000410978:R382C	ENSP00000343563:R401C	R	-	1	0	CACNB4	152406767	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.501000	0.60393	2.609000	0.88269	0.655000	0.94253	CGT		0.493	CACNB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338385.4	NM_000726.3		25	63	0	0	0	0	25	63				
SCN2A	6326	broad.mit.edu	37	2	166172118	166172118	+	Silent	SNP	A	A	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr2:166172118A>G	ENST00000375437.2	+	11	1811	c.1521A>G	c.(1519-1521)aaA>aaG	p.K507K	SCN2A_ENST00000283256.6_Silent_p.K507K|SCN2A_ENST00000375427.2_Silent_p.K507K|SCN2A_ENST00000357398.3_Silent_p.K507K	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	507					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	gaagaaagaaaaagaaacaga	0.388																																						uc002udc.2		NA																	0				ovary(6)|breast(1)|pancreas(1)	8						c.(1519-1521)AAA>AAG		sodium channel, voltage-gated, type II, alpha	Lamotrigine(DB00555)						43.0	46.0	45.0					2																	166172118		2203	4300	6503	SO:0001819	synonymous_variant	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166172118A>G	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.1521A>G	2.37:g.166172118A>G						SCN2A_uc002udd.2_Silent_p.K507K|SCN2A_uc002ude.2_Silent_p.K507K	p.K507K	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN			11	1811	+			507					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	ENST00000375437.2	37	c.1521A>G	CCDS33314.1																																																																																				0.388	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		14	29	0	0	0	0	14	29				
ABCB11	8647	broad.mit.edu	37	2	169787239	169787239	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr2:169787239C>T	ENST00000263817.6	-	25	3471	c.3347G>A	c.(3346-3348)gGa>gAa	p.G1116E		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1116	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TTTGCCACATCCACTGCTCCC	0.463																																						uc002ueo.1		NA																	0				ovary(2)|large_intestine(2)|breast(1)	5						c.(3346-3348)GGA>GAA		ATP-binding cassette, sub-family B (MDR/TAP),	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						79.0	77.0	78.0					2																	169787239		2047	4189	6236	SO:0001583	missense	8647				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	g.chr2:169787239C>T	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.3347G>A	2.37:g.169787239C>T	ENSP00000263817:p.Gly1116Glu					ABCB11_uc010zda.1_Missense_Mutation_p.G558E|ABCB11_uc010zdb.1_Missense_Mutation_p.G592E	p.G1116E	NM_003742	NP_003733	O95342	ABCBB_HUMAN			25	3473	-			1116			Cytoplasmic (Potential).|ATP 2 (Potential).|ABC transporter 2.		Q53TL2|Q9UNB2	Missense_Mutation	SNP	ENST00000263817.6	37	c.3347G>A	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.027135	0.93518	.	.	ENSG00000073734	ENST00000263817	D	0.99494	-6.01	6.08	6.08	0.98989	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.99832	0.9924	H	0.99475	4.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.96754	0.9556	10	0.87932	D	0	-1.9923	20.6647	0.99678	0.0:1.0:0.0:0.0	.	558;1116	B4DZQ8;O95342	.;ABCBB_HUMAN	E	1116	ENSP00000263817:G1116E	ENSP00000263817:G1116E	G	-	2	0	ABCB11	169495485	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	7.776000	0.85560	2.890000	0.99128	0.655000	0.94253	GGA		0.463	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		6	19	0	0	0	0	6	19				
TTN	7273	broad.mit.edu	37	2	179650467	179650467	+	Silent	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr2:179650467G>A	ENST00000591111.1	-	15	2597	c.2373C>T	c.(2371-2373)atC>atT	p.I791I	TTN_ENST00000589042.1_Silent_p.I791I|TTN_ENST00000342992.6_Silent_p.I791I|TTN_ENST00000342175.6_Silent_p.I745I|TTN_ENST00000460472.2_Silent_p.I745I|TTN_ENST00000360870.5_Silent_p.I791I|TTN_ENST00000359218.5_Silent_p.I745I			Q8WZ42	TITIN_HUMAN	titin	33626					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)			TAGTTTTCTTGATCTGCATTG	0.413																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(2371-2373)ATC>ATT		titin isoform N2-A							210.0	203.0	205.0					2																	179650467		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179650467G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.2373C>T	2.37:g.179650467G>A						TTN_uc010zfh.1_Silent_p.I745I|TTN_uc010zfi.1_Silent_p.I745I|TTN_uc010zfj.1_Silent_p.I745I|TTN_uc002unb.2_Silent_p.I791I	p.I791I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		15	2597	-			791					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	Silent	SNP	ENST00000591111.1	37	c.2373C>T																																																																																					0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		12	66	0	0	0	0	12	66				
PGAP1	80055	broad.mit.edu	37	2	197737751	197737751	+	Splice_Site	SNP	C	C	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr2:197737751C>A	ENST00000354764.4	-	17	1667		c.e17-1		PGAP1_ENST00000409475.1_Splice_Site	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1						anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						GTTATTTCTTCTGTTAAAACA	0.249																																						uc002utw.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.e17-1		GPI deacylase							35.0	40.0	38.0					2																	197737751		2155	4210	6365	SO:0001630	splice_region_variant	80055				attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity	g.chr2:197737751C>A		CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"""GPI inositol-deacylase"""	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.1553-1G>T	2.37:g.197737751C>A						PGAP1_uc002utx.2_Splice_Site_p.E344_splice|PGAP1_uc002uty.1_Splice_Site_p.E518_splice	p.E518_splice	NM_024989	NP_079265	Q75T13	PGAP1_HUMAN			17	1667	-								Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Splice_Site	SNP	ENST00000354764.4	37	c.1553_splice	CCDS2318.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.347572	0.24426	.	.	ENSG00000197121	ENST00000422382;ENST00000354764;ENST00000409475	.	.	.	4.85	3.97	0.46021	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.0414	0.14462	0.2005:0.6724:0.0:0.127	.	.	.	.	.	-1	.	.	.	-	.	.	PGAP1	197445996	1.000000	0.71417	0.999000	0.59377	0.530000	0.34684	2.150000	0.42254	1.422000	0.47177	-0.133000	0.14855	.		0.249	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5	NM_024989	Intron	3	11	1	0	0.004672	0.00502894	3	11				
XRCC5	7520	broad.mit.edu	37	2	216986930	216986930	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr2:216986930A>G	ENST00000392133.3	+	8	1098	c.637A>G	c.(637-639)Ata>Gta	p.I213V	XRCC5_ENST00000392132.2_Missense_Mutation_p.I213V			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	213					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		AATGGTGATGATATCTTTAGA	0.383								Non-homologous end-joining																														uc002vfy.2		NA																	0				lung(1)|kidney(1)	2						c.(637-639)ATA>GTA	Direct_reversal_of_damage|NHEJ	ATP-dependent DNA helicase II							104.0	102.0	103.0					2																	216986930		2203	4300	6503	SO:0001583	missense	7520				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding	g.chr2:216986930A>G	AF039597	CCDS2402.1	2q35	2008-07-31	2008-07-31		ENSG00000079246	ENSG00000079246			12833	protein-coding gene	gene with protein product	"""Ku autoantigen, 80kDa"""	194364	"""X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD)"""			9636207, 9214634	Standard	NM_021141		Approved	KU80, KARP-1, Ku86, KUB2	uc002vfy.3	P13010	OTTHUMG00000133059	ENST00000392133.3:c.637A>G	2.37:g.216986930A>G	ENSP00000375978:p.Ile213Val					XRCC5_uc002vfz.2_Missense_Mutation_p.I99V	p.I213V	NM_021141	NP_066964	P13010	XRCC5_HUMAN		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)	6	777	+		Renal(323;0.0328)	213					A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	Missense_Mutation	SNP	ENST00000392133.3	37	c.637A>G	CCDS2402.1	.	.	.	.	.	.	.	.	.	.	A	5.472	0.272100	0.10349	.	.	ENSG00000079246	ENST00000392133;ENST00000392132	T;T	0.27720	1.65;1.65	5.09	-2.25	0.06888	Ku70/Ku80, N-terminal alpha/beta (1);von Willebrand factor, type A (1);	0.778678	0.12614	N	0.453600	T	0.08758	0.0217	N	0.02011	-0.69	0.22001	N	0.999429	B	0.02656	0.0	B	0.01281	0.0	T	0.25537	-1.0129	10	0.27082	T	0.32	.	3.3341	0.07094	0.1825:0.4375:0.0775:0.3025	.	213	P13010	XRCC5_HUMAN	V	213	ENSP00000375978:I213V;ENSP00000375977:I213V	ENSP00000375977:I213V	I	+	1	0	XRCC5	216695175	0.013000	0.17824	0.935000	0.37517	0.891000	0.51852	-1.001000	0.03690	-0.410000	0.07542	-0.341000	0.08007	ATA		0.383	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256675.3	NM_021141		14	49	0	0	0	0	14	49				
SLC4A3	6508	broad.mit.edu	37	2	220493179	220493179	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr2:220493179A>G	ENST00000358055.3	+	3	616	c.104A>G	c.(103-105)gAc>gGc	p.D35G	SLC4A3_ENST00000273063.6_Missense_Mutation_p.D35G|SLC4A3_ENST00000317151.3_Missense_Mutation_p.D35G|SLC4A3_ENST00000373762.3_Missense_Mutation_p.D35G|AC009955.8_ENST00000455896.1_RNA|SLC4A3_ENST00000373760.2_Missense_Mutation_p.D35G			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	35					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGGAGGAGGACGATGACTTG	0.657																																						uc002vmp.3		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	5						c.(103-105)GAC>GGC		solute carrier family 4, anion exchanger, member							53.0	57.0	55.0					2																	220493179		2203	4300	6503	SO:0001583	missense	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220493179A>G		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.104A>G	2.37:g.220493179A>G	ENSP00000350756:p.Asp35Gly					SLC4A3_uc002vmn.2_Missense_Mutation_p.D35G|SLC4A3_uc002vmo.3_Missense_Mutation_p.D35G|SLC4A3_uc010fwm.2_5'UTR	p.D35G	NM_005070	NP_005061	P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	373	+		Renal(207;0.0183)	35			Cytoplasmic.		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	37	c.104A>G	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.946798	0.73672	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000317151	T;T;T;T;T	0.76839	-0.97;-0.97;-1.05;-1.05;-0.97	3.55	3.55	0.40652	.	756.750000	0.00669	N	0.000627	T	0.77909	0.4201	L	0.52573	1.65	0.51767	D	0.999933	P;D	0.54207	0.759;0.965	B;B	0.43386	0.143;0.418	T	0.69957	-0.5004	10	0.66056	D	0.02	.	11.1104	0.48230	1.0:0.0:0.0:0.0	.	35;35	P48751;P48751-3	B3A3_HUMAN;.	G	35	ENSP00000350756:D35G;ENSP00000362865:D35G;ENSP00000273063:D35G;ENSP00000362867:D35G;ENSP00000314006:D35G	ENSP00000273063:D35G	D	+	2	0	SLC4A3	220201423	1.000000	0.71417	0.993000	0.49108	0.910000	0.53928	5.544000	0.67231	1.609000	0.50190	0.260000	0.18958	GAC		0.657	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		5	19	0	0	0	0	5	19				
UGT1A6	54578	broad.mit.edu	37	2	234680964	234680964	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr2:234680964C>T	ENST00000305139.6	+	5	1497	c.1358C>T	c.(1357-1359)cCg>cTg	p.P453L	UGT1A8_ENST00000305208.5_Missense_Mutation_p.P454L|UGT1A1_ENST00000609767.1_Missense_Mutation_p.P455L|UGT1A1_ENST00000608381.1_Missense_Mutation_p.P455L|UGT1A5_ENST00000373414.3_Missense_Mutation_p.P455L|UGT1A7_ENST00000373426.3_Missense_Mutation_p.P451L|UGT1A4_ENST00000373409.3_Missense_Mutation_p.P455L|UGT1A1_ENST00000609637.1_Missense_Mutation_p.P451L|UGT1A3_ENST00000482026.1_Missense_Mutation_p.P455L|UGT1A9_ENST00000354728.4_Missense_Mutation_p.P451L|UGT1A1_ENST00000608383.1_Missense_Mutation_p.P454L|UGT1A10_ENST00000344644.5_Missense_Mutation_p.P451L|UGT1A1_ENST00000373450.4_Missense_Mutation_p.P451L|UGT1A6_ENST00000373424.1_Missense_Mutation_p.P186L	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6	453					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	CCGGTGGAGCCGCTGGACCTG	0.587																																						uc002vuw.2		NA																	0				skin(1)	1						c.(1363-1365)CCG>CTG		UDP glycosyltransferase 1 family, polypeptide A5							59.0	58.0	59.0					2																	234680964		2203	4300	6503	SO:0001583	missense	54579				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr2:234680964C>T	M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"""UDP glucuronosyltransferases"""	12538	other	complex locus constituent		606431	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.1358C>T	2.37:g.234680964C>T	ENSP00000303174:p.Pro453Leu					UGT1A8_uc002vup.2_Missense_Mutation_p.P451L|UGT1A10_uc002vur.2_Missense_Mutation_p.P451L|UGT1A9_uc002vus.2_Missense_Mutation_p.P451L|UGT1A7_uc002vut.2_Missense_Mutation_p.P451L|UGT1A6_uc002vuu.2_Missense_Mutation_p.P186L|UGT1A6_uc002vuv.3_Missense_Mutation_p.P453L|UGT1A4_uc002vux.2_Missense_Mutation_p.P455L|UGT1A3_uc002vuy.2_Missense_Mutation_p.P455L|UGT1A9_uc002vva.2_RNA|UGT1A1_uc002vvb.2_Missense_Mutation_p.P454L	p.P455L	NM_019078	NP_061951	P35504	UD15_HUMAN		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)	5	1364	+		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)	455					A6NKK6|B8K289|Q96TE7	Missense_Mutation	SNP	ENST00000305139.6	37	c.1364C>T	CCDS2507.1	.	.	.	.	.	.	.	.	.	.	C	31	5.074754	0.94000	.	.	ENSG00000242366;ENSG00000242515;ENSG00000241119;ENSG00000244122;ENSG00000167165;ENSG00000167165;ENSG00000240224;ENSG00000244474;ENSG00000243135;ENSG00000241635	ENST00000373450;ENST00000344644;ENST00000354728;ENST00000373426;ENST00000373424;ENST00000305139;ENST00000373414;ENST00000373409;ENST00000482026;ENST00000305208	T;T;T;T;T;T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-0.99	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.92182	0.7521	H	0.97874	4.095	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0;1.0;0.999;0.999;1.0	D	0.94383	0.7606	10	0.87932	D	0	.	20.1338	0.98010	0.0:1.0:0.0:0.0	.	454;455;455;455;453;451;451;451;451	P22309;P35503;P22310;P35504;P19224;Q9HAW7;O60656;Q9HAW8;Q9HAW9	UD11_HUMAN;UD13_HUMAN;UD14_HUMAN;UD15_HUMAN;UD16_HUMAN;UD17_HUMAN;UD19_HUMAN;UD110_HUMAN;UD18_HUMAN	L	451;451;451;451;186;453;455;455;455;454	ENSP00000362549:P451L;ENSP00000343838:P451L;ENSP00000346768:P451L;ENSP00000362525:P451L;ENSP00000362523:P186L;ENSP00000303174:P453L;ENSP00000362513:P455L;ENSP00000362508:P455L;ENSP00000418532:P455L;ENSP00000304845:P454L	ENSP00000343838:P451L	P	+	2	0	UGT1A7;UGT1A6;UGT1A10;UGT1A9;UGT1A8;UGT1A3;UGT1A5;UGT1A4;UGT1A1	234345703	1.000000	0.71417	0.966000	0.40874	0.667000	0.39255	7.701000	0.84566	2.770000	0.95276	0.655000	0.94253	CCG		0.587	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130988.1	NM_205862		15	84	0	0	0	0	15	84				
PLCB1	23236	broad.mit.edu	37	20	8741079	8741079	+	Silent	SNP	A	A	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr20:8741079A>G	ENST00000338037.6	+	25	2709	c.2682A>G	c.(2680-2682)acA>acG	p.T894T	PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378641.3_Silent_p.T894T|PLCB1_ENST00000378637.2_Silent_p.T894T	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	894					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CTGCCAAAACAGAAGATCTTA	0.358																																						uc002wnb.2		NA																	0				ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						c.(2680-2682)ACA>ACG		phosphoinositide-specific phospholipase C beta 1							55.0	53.0	54.0					20																	8741079		2203	4300	6503	SO:0001819	synonymous_variant	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8741079A>G	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.2682A>G	20.37:g.8741079A>G						PLCB1_uc010zrb.1_Silent_p.T793T|PLCB1_uc002wna.2_Silent_p.T894T|PLCB1_uc002wnc.1_Silent_p.T793T|PLCB1_uc002wnd.1_Silent_p.T471T	p.T894T	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN			25	2685	+			894					D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Silent	SNP	ENST00000338037.6	37	c.2682A>G	CCDS13102.1																																																																																				0.358	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			5	14	0	0	0	0	5	14				
CHD6	84181	broad.mit.edu	37	20	40033381	40033381	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr20:40033381G>A	ENST00000373233.3	-	37	8177	c.8000C>T	c.(7999-8001)tCc>tTc	p.S2667F	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2667					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CTCTGGGTGGGAGTTGGGGTT	0.587																																						uc002xka.1		NA																	0				ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14						c.(7999-8001)TCC>TTC		chromodomain helicase DNA binding protein 6							88.0	96.0	93.0					20																	40033381		2203	4300	6503	SO:0001583	missense	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40033381G>A	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.8000C>T	20.37:g.40033381G>A	ENSP00000362330:p.Ser2667Phe					CHD6_uc002xjz.1_Missense_Mutation_p.S204F	p.S2667F	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN			37	8178	-		Myeloproliferative disorder(115;0.00425)	2667					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.8000C>T	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	12.54	1.969524	0.34754	.	.	ENSG00000124177	ENST00000373233	D	0.86297	-2.1	5.99	5.03	0.67393	.	0.110695	0.41001	D	0.000969	T	0.79476	0.4452	N	0.14661	0.345	0.80722	D	1	B	0.18863	0.031	B	0.19148	0.024	T	0.74993	-0.3474	10	0.62326	D	0.03	-9.576	16.8756	0.86051	0.0:0.0:0.8711:0.1289	.	2667	Q8TD26	CHD6_HUMAN	F	2667	ENSP00000362330:S2667F	ENSP00000362330:S2667F	S	-	2	0	CHD6	39466795	1.000000	0.71417	1.000000	0.80357	0.572000	0.35998	6.639000	0.74314	1.513000	0.48852	0.655000	0.94253	TCC		0.587	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			35	101	0	0	0	0	35	101				
PTPN1	5770	broad.mit.edu	37	20	49195149	49195149	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr20:49195149G>A	ENST00000371621.3	+	6	859	c.685G>A	c.(685-687)Gat>Aat	p.D229N	PTPN1_ENST00000541713.1_Missense_Mutation_p.D156N|RP4-530I15.9_ENST00000431019.1_RNA	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1	229	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity (GO:1990264)|platelet activation (GO:0030168)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|regulation of endocytosis (GO:0030100)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of signal transduction (GO:0009966)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|sorting endosome (GO:0097443)	enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Tiludronate(DB01133)	CTGTCTGGCTGATACCTGCCT	0.587																																						uc002xvl.2		NA																	0					0						c.(685-687)GAT>AAT		protein tyrosine phosphatase, non-receptor type	Clodronate(DB00720)|Tiludronate(DB01133)						48.0	50.0	49.0					20																	49195149		2203	4300	6503	SO:0001583	missense	5770				blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|endoplasmic reticulum membrane	protein tyrosine phosphatase activity|zinc ion binding	g.chr20:49195149G>A		CCDS13430.1, CCDS63309.1	20q13.1-q13.2	2011-06-09			ENSG00000196396	ENSG00000196396		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9642	protein-coding gene	gene with protein product		176885		PTP1B		2164224	Standard	NM_002827		Approved		uc002xvl.3	P18031	OTTHUMG00000032729	ENST00000371621.3:c.685G>A	20.37:g.49195149G>A	ENSP00000360683:p.Asp229Asn					PTPN1_uc010zys.1_Missense_Mutation_p.D156N	p.D229N	NM_002827	NP_002818	P18031	PTN1_HUMAN			6	859	+		Lung NSC(126;0.163)	229			Tyrosine-protein phosphatase.		Q5TGD8|Q9BQV9|Q9NQQ4	Missense_Mutation	SNP	ENST00000371621.3	37	c.685G>A	CCDS13430.1	.	.	.	.	.	.	.	.	.	.	G	34	5.378575	0.95945	.	.	ENSG00000196396	ENST00000371621;ENST00000541713	D;D	0.84730	-1.89;-1.89	5.24	5.24	0.73138	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.64402	D	0.000001	D	0.94758	0.8308	H	0.94808	3.585	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.96069	0.9044	10	0.87932	D	0	.	18.8255	0.92117	0.0:0.0:1.0:0.0	.	229	P18031	PTN1_HUMAN	N	229;156	ENSP00000360683:D229N;ENSP00000437732:D156N	ENSP00000360683:D229N	D	+	1	0	PTPN1	48628556	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.790000	0.99075	2.444000	0.82710	0.462000	0.41574	GAT		0.587	PTPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079694.2			7	44	0	0	0	0	7	44				
CASS4	57091	broad.mit.edu	37	20	55026880	55026880	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr20:55026880G>T	ENST00000360314.3	+	6	873	c.648G>T	c.(646-648)caG>caT	p.Q216H	CASS4_ENST00000371336.3_Missense_Mutation_p.Q216H|CASS4_ENST00000434344.1_Intron	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	216					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CACAGGGGCAGGGTGTTCCCC	0.502																																						uc002xxp.2		NA																	0				ovary(2)|skin(1)	3						c.(646-648)CAG>CAT		HEF-like protein isoform a							59.0	56.0	57.0					20																	55026880		2203	4300	6503	SO:0001583	missense	57091				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	g.chr20:55026880G>T	AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"""Cas scaffolding proteins"""	15878	protein-coding gene	gene with protein product	"""HEF-like protein"", ""HEF1-Efs-p130Cas-like"""		"""chromosome 20 open reading frame 32"""	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.648G>T	20.37:g.55026880G>T	ENSP00000353462:p.Gln216His					CASS4_uc002xxq.3_Missense_Mutation_p.Q216H|CASS4_uc002xxr.2_Missense_Mutation_p.Q216H|CASS4_uc010zze.1_Missense_Mutation_p.Q162H|CASS4_uc010gio.2_Intron	p.Q216H	NM_001164116	NP_001157588	Q9NQ75	CASS4_HUMAN			6	873	+			216					E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Missense_Mutation	SNP	ENST00000360314.3	37	c.648G>T	CCDS33492.1	.	.	.	.	.	.	.	.	.	.	G	2.556	-0.303004	0.05495	.	.	ENSG00000087589	ENST00000360314;ENST00000371336	T;T	0.13538	2.58;2.58	4.51	-0.345	0.12624	.	1.986060	0.02432	N	0.083620	T	0.17746	0.0426	L	0.60455	1.87	0.09310	N	1	B;B;B	0.17667	0.006;0.023;0.005	B;B;B	0.14023	0.003;0.01;0.003	T	0.39663	-0.9603	10	0.31617	T	0.26	-0.2619	11.3713	0.49702	0.0821:0.4695:0.4484:0.0	.	162;216;216	B4DII4;Q9NQ75-2;Q9NQ75	.;.;CASS4_HUMAN	H	216	ENSP00000353462:Q216H;ENSP00000360387:Q216H	ENSP00000353462:Q216H	Q	+	3	2	CASS4	54460287	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.116000	0.15561	-0.066000	0.12998	0.563000	0.77884	CAG		0.502	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	NM_020356		18	48	1	0	1.01e-13	1.33e-13	18	48				
SAMSN1	64092	broad.mit.edu	37	21	15870786	15870786	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr21:15870786G>A	ENST00000400566.1	-	7	977	c.896C>T	c.(895-897)gCt>gTt	p.A299V	SAMSN1_ENST00000400564.1_Missense_Mutation_p.A131V|SAMSN1_ENST00000285670.2_Missense_Mutation_p.A367V|SAMSN1_ENST00000463807.1_5'UTR	NM_022136.4	NP_071419.3	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	299	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				negative regulation of adaptive immune response (GO:0002820)|negative regulation of B cell activation (GO:0050869)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)	cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)	phosphotyrosine binding (GO:0001784)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		GAAGTTTTCAGCAGCTGATAG	0.338																																						uc002yju.1		NA																	0				ovary(3)|pancreas(1)	4						c.(895-897)GCT>GTT		SAM domain, SH3 domain and nuclear localization							112.0	102.0	105.0					21																	15870786		1817	4076	5893	SO:0001583	missense	64092				negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding	g.chr21:15870786G>A	AF222927	CCDS42906.1, CCDS58786.1, CCDS74774.1	21q11	2013-01-10	2006-12-13		ENSG00000155307	ENSG00000155307		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	10528	protein-coding gene	gene with protein product	"""nuclear localization signals, SAM and SH3 domain containing 1"", ""SAM and SH3 domain containing 2"", ""hematopoietic adapter-containing SH3 and sterile &#945;-motif (SAM) domains 1"", ""Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2"""	607978				11536050, 11594764	Standard	NM_022136		Approved	NASH1, SASH2, SH3D6B, HACS1, SLy2	uc002yjv.1	Q9NSI8	OTTHUMG00000074317	ENST00000400566.1:c.896C>T	21.37:g.15870786G>A	ENSP00000383411:p.Ala299Val					SAMSN1_uc010gky.1_Missense_Mutation_p.A131V|SAMSN1_uc002yjv.1_Missense_Mutation_p.A367V	p.A299V	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)	7	978	-			299			SAM.		B3KWJ3|F8WAA1|Q8NFF7|Q9C041	Missense_Mutation	SNP	ENST00000400566.1	37	c.896C>T	CCDS42906.1	.	.	.	.	.	.	.	.	.	.	G	8.225	0.803286	0.16397	.	.	ENSG00000155307	ENST00000285670;ENST00000400566;ENST00000400564	D;D;D	0.84223	-1.82;-1.82;-1.82	6.04	6.04	0.98038	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.248541	0.47455	D	0.000225	T	0.70263	0.3204	N	0.21508	0.67	0.37227	D	0.905509	P;P;P	0.52316	0.801;0.952;0.569	B;B;B	0.40444	0.26;0.243;0.329	T	0.70995	-0.4720	10	0.07813	T	0.8	-11.4602	7.9527	0.30025	0.1846:0.0:0.8154:0.0	.	131;367;299	Q9NSI8-2;F8WAA1;Q9NSI8	.;.;SAMN1_HUMAN	V	367;299;131	ENSP00000285670:A367V;ENSP00000383411:A299V;ENSP00000383409:A131V	ENSP00000285670:A367V	A	-	2	0	SAMSN1	14792657	1.000000	0.71417	1.000000	0.80357	0.081000	0.17604	2.579000	0.46059	2.873000	0.98535	0.563000	0.77884	GCT		0.338	SAMSN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157914.1			12	33	0	0	0	0	12	33				
TIAM1	7074	broad.mit.edu	37	21	32582412	32582412	+	Silent	SNP	C	C	G	rs28520154		TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr21:32582412C>G	ENST00000286827.3	-	12	2808	c.2337G>C	c.(2335-2337)acG>acC	p.T779T	TIAM1_ENST00000469412.1_5'Flank|TIAM1_ENST00000541036.1_Silent_p.T754T	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	779	RBD. {ECO:0000255|PROSITE- ProRule:PRU00262}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GCCGGACGACCGTCAGGGCAG	0.547																																						uc002yow.1		NA																	0				lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						c.(2335-2337)ACG>ACC		T-cell lymphoma invasion and metastasis 1							86.0	71.0	76.0					21																	32582412		2203	4300	6503	SO:0001819	synonymous_variant	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32582412C>G		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.2337G>C	21.37:g.32582412C>G						TIAM1_uc011adk.1_Silent_p.T779T|TIAM1_uc011adl.1_Silent_p.T754T	p.T779T	NM_003253	NP_003244	Q13009	TIAM1_HUMAN			12	2809	-			779			RBD.		B7ZLR6|F5GZ53|Q17RT7	Silent	SNP	ENST00000286827.3	37	c.2337G>C	CCDS13609.1																																																																																				0.547	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		12	40	0	0	0	0	12	40				
TIAM1	7074	broad.mit.edu	37	21	32638554	32638554	+	Silent	SNP	T	T	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr21:32638554T>G	ENST00000286827.3	-	5	1206	c.735A>C	c.(733-735)gcA>gcC	p.A245A	TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Silent_p.A245A	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	245					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GCCCCCCGTTTGCTGTCACTC	0.547																																						uc002yow.1		NA																	0				lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						c.(733-735)GCA>GCC		T-cell lymphoma invasion and metastasis 1							68.0	73.0	71.0					21																	32638554		2203	4300	6503	SO:0001819	synonymous_variant	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32638554T>G		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.735A>C	21.37:g.32638554T>G						TIAM1_uc011adk.1_Silent_p.A245A|TIAM1_uc011adl.1_Silent_p.A245A|TIAM1_uc002yox.1_Intron	p.A245A	NM_003253	NP_003244	Q13009	TIAM1_HUMAN			5	1207	-			245					B7ZLR6|F5GZ53|Q17RT7	Silent	SNP	ENST00000286827.3	37	c.735A>C	CCDS13609.1																																																																																				0.547	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		25	80	0	0	0	0	25	80				
TRPM2	7226	broad.mit.edu	37	21	45815335	45815335	+	Silent	SNP	C	C	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr21:45815335C>A	ENST00000397928.1	+	12	2278	c.1833C>A	c.(1831-1833)tcC>tcA	p.S611S	TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Silent_p.S591S|TRPM2_ENST00000300482.5_Silent_p.S611S|TRPM2_ENST00000397932.2_Silent_p.S611S	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	611					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						ACAAGCGTTCCTCAGGCCATG	0.622																																						uc002zet.1		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1831-1833)TCC>TCA		transient receptor potential cation channel,							132.0	117.0	122.0					21																	45815335		2203	4299	6502	SO:0001819	synonymous_variant	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45815335C>A	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.1833C>A	21.37:g.45815335C>A						TRPM2_uc002zeu.1_Silent_p.S611S|TRPM2_uc002zew.1_Silent_p.S611S|TRPM2_uc010gpt.1_Silent_p.S611S|TRPM2_uc002zex.1_Silent_p.S397S|TRPM2_uc002zey.1_Silent_p.S124S	p.S611S	NM_003307	NP_003298	O94759	TRPM2_HUMAN			13	2046	+			611			Cytoplasmic (Potential).		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Silent	SNP	ENST00000397928.1	37	c.1833C>A	CCDS13710.1																																																																																				0.622	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		11	139	1	0	4.38e-07	5.27e-07	11	139				
GNAZ	2781	broad.mit.edu	37	22	23438557	23438557	+	Silent	SNP	T	T	C			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr22:23438557T>C	ENST00000248996.4	+	2	1341	c.675T>C	c.(673-675)tgT>tgC	p.C225C	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	225					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		TCATCTTCTGTGTGGAGCTCA	0.567																																						uc002zwu.1		NA																	0				kidney(1)|skin(1)	2						c.(673-675)TGT>TGC		guanine nucleotide binding protein, alpha z							199.0	220.0	213.0					22																	23438557		2203	4300	6503	SO:0001819	synonymous_variant	2781					endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity	g.chr22:23438557T>C		CCDS13804.1	22q11.1-q11.2	2008-06-10			ENSG00000128266	ENSG00000128266			4395	protein-coding gene	gene with protein product		139160				2115889	Standard	NM_002073		Approved		uc002zwu.1	P19086	OTTHUMG00000150611	ENST00000248996.4:c.675T>C	22.37:g.23438557T>C						RTDR1_uc002zwt.2_Intron	p.C225C	NM_002073	NP_002064	P19086	GNAZ_HUMAN		READ - Rectum adenocarcinoma(21;0.166)	2	1212	+	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		225					B2R6C1|Q4QRJ6	Silent	SNP	ENST00000248996.4	37	c.675T>C	CCDS13804.1																																																																																				0.567	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319073.1	NM_002073		44	205	0	0	0	0	44	205				
SEC14L4	284904	broad.mit.edu	37	22	30887558	30887558	+	Splice_Site	SNP	A	A	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr22:30887558A>G	ENST00000255858.7	-	11	1165		c.e11+1		SEC14L4_ENST00000540456.1_Splice_Site|RP4-539M6.14_ENST00000610156.1_RNA|RP4-539M6.14_ENST00000442126.1_RNA|SEC14L4_ENST00000381982.3_Splice_Site|SEC14L4_ENST00000392772.2_Splice_Site	NM_001161368.1|NM_174977.3	NP_001154840.1|NP_777637.1	Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)							integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	CGCAGCTCTTACAGACGCCAG	0.602																																						uc003aid.2		NA																	0				skin(1)	1						c.e11+1		SEC14p-like protein TAP3 isoform a	Vitamin E(DB00163)						59.0	59.0	59.0					22																	30887558		2203	4300	6503	SO:0001630	splice_region_variant	284904					integral to membrane|intracellular	lipid binding|transporter activity	g.chr22:30887558A>G	AY158085	CCDS13878.1, CCDS54517.1	22q12.1	2003-03-10			ENSG00000133488	ENSG00000133488			20627	protein-coding gene	gene with protein product		612825					Standard	NM_174977		Approved	TAP3, dJ130H16.5	uc003aid.2	Q9UDX3	OTTHUMG00000151258	ENST00000255858.7:c.1081+1T>C	22.37:g.30887558A>G						SEC14L4_uc011akz.1_Splice_Site_p.*361_splice|SEC14L4_uc003aie.2_Splice_Site_p.Y346_splice|SEC14L4_uc003aif.2_Splice_Site_p.Y307_splice	p.Y361_splice	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN			11	1181	-								A5D6W7|A6NCV4	Splice_Site	SNP	ENST00000255858.7	37	c.1081_splice	CCDS13878.1	.	.	.	.	.	.	.	.	.	.	A	15.85	2.956317	0.53293	.	.	ENSG00000133488	ENST00000255858;ENST00000540456;ENST00000392772	.	.	.	4.58	4.58	0.56647	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0641	0.64817	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SEC14L4	29217558	1.000000	0.71417	1.000000	0.80357	0.645000	0.38454	8.185000	0.89704	2.059000	0.61396	0.397000	0.26171	.		0.602	SEC14L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321946.1	NM_174977	Intron	11	62	0	0	0	0	11	62				
IL5RA	3568	broad.mit.edu	37	3	3146617	3146617	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr3:3146617G>T	ENST00000446632.2	-	3	626	c.52C>A	c.(52-54)Ctg>Atg	p.L18M	IL5RA_ENST00000418488.2_Missense_Mutation_p.L18M|IL5RA_ENST00000430514.2_Missense_Mutation_p.L18M|SNORA43_ENST00000517240.1_RNA|IL5RA_ENST00000256452.3_Missense_Mutation_p.L18M|IL5RA_ENST00000445864.2_Missense_Mutation_p.L18M|IL5RA_ENST00000456302.1_Missense_Mutation_p.L18M|IL5RA_ENST00000438560.1_Missense_Mutation_p.L18M|IL5RA_ENST00000383846.1_Missense_Mutation_p.L18M|IL5RA_ENST00000311981.8_Missense_Mutation_p.L18M	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	18					cell proliferation (GO:0008283)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-5-mediated signaling pathway (GO:0038043)|regulation of interleukin-5 production (GO:0032674)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-5 receptor activity (GO:0004914)			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		TCAGCTTGCAGTATCTCAGTG	0.333																																					GBM(169;430 2801 24955 28528)	uc011ask.1		NA																	0				ovary(1)	1						c.(52-54)CTG>ATG		interleukin 5 receptor, alpha isoform 1							100.0	98.0	99.0					3																	3146617		2203	4300	6503	SO:0001583	missense	3568				cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity	g.chr3:3146617G>T	M96652	CCDS2559.1, CCDS2560.1, CCDS46739.1, CCDS58813.1	3p26-p24	2008-01-11			ENSG00000091181	ENSG00000091181		"""Interleukins and interleukin receptors"", ""CD molecules"""	6017	protein-coding gene	gene with protein product		147851		IL5R		1732409	Standard	NM_175727		Approved	CDw125, CD125	uc010hbs.3	Q01344	OTTHUMG00000090245	ENST00000446632.2:c.52C>A	3.37:g.3146617G>T	ENSP00000412209:p.Leu18Met					IL5RA_uc010hbq.2_Missense_Mutation_p.L18M|IL5RA_uc010hbr.2_Missense_Mutation_p.L18M|IL5RA_uc010hbs.2_Missense_Mutation_p.L18M|IL5RA_uc011asl.1_Missense_Mutation_p.L18M|IL5RA_uc011asm.1_Missense_Mutation_p.L18M|IL5RA_uc010hbt.2_Missense_Mutation_p.L18M|IL5RA_uc011asn.1_Missense_Mutation_p.L18M|IL5RA_uc010hbu.2_Missense_Mutation_p.L18M	p.L18M	NM_000564	NP_000555	Q01344	IL5RA_HUMAN		Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)	4	696	-			18					B3IU77|B4E2G0|Q14633|Q15469|Q6ISX9	Missense_Mutation	SNP	ENST00000446632.2	37	c.52C>A	CCDS2559.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.355111	0.41700	.	.	ENSG00000091181	ENST00000446632;ENST00000438560;ENST00000256452;ENST00000418488;ENST00000445864;ENST00000383846;ENST00000311981;ENST00000430514;ENST00000456302;ENST00000445701;ENST00000427088	D;D;D;T;T;T;T;T;T;T	0.88818	-2.43;-2.33;-2.43;1.08;1.18;1.12;1.12;1.12;1.12;1.21	5.6	-4.99	0.03010	.	1.333540	0.05160	N	0.497639	D	0.91918	0.7441	M	0.71581	2.175	0.09310	N	1	D;D;D;D;D;D	0.71674	0.989;0.993;0.993;0.989;0.998;0.996	P;P;P;P;D;P	0.65443	0.726;0.858;0.858;0.726;0.935;0.862	D	0.85324	0.1086	10	0.49607	T	0.09	-0.2775	8.5766	0.33603	0.6679:0.0:0.2068:0.1253	.	18;18;18;18;18;18	B4E2G0;Q01344-3;Q01344-2;Q01344;B3IU77;E7ERY4	.;.;.;IL5RA_HUMAN;.;.	M	18	ENSP00000412209:L18M;ENSP00000390753:L18M;ENSP00000256452:L18M;ENSP00000388858:L18M;ENSP00000402598:L18M;ENSP00000373358:L18M;ENSP00000309196:L18M;ENSP00000400400:L18M;ENSP00000392059:L18M;ENSP00000398117:L18M	ENSP00000256452:L18M	L	-	1	2	IL5RA	3121617	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.287000	0.08388	-0.920000	0.03799	-0.912000	0.02778	CTG		0.333	IL5RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337537.2			7	12	1	0	5.69e-11	7.35e-11	7	12				
FLNB	2317	broad.mit.edu	37	3	58109357	58109357	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr3:58109357G>A	ENST00000295956.4	+	21	3829	c.3664G>A	c.(3664-3666)Gtg>Atg	p.V1222M	FLNB_ENST00000419752.2_Missense_Mutation_p.V1053M|FLNB_ENST00000490882.1_Missense_Mutation_p.V1222M|FLNB_ENST00000358537.3_Missense_Mutation_p.V1222M|FLNB_ENST00000493452.1_Missense_Mutation_p.V1053M|FLNB_ENST00000429972.2_Missense_Mutation_p.V1222M|FLNB_ENST00000357272.4_Missense_Mutation_p.V1222M|FLNB_ENST00000348383.5_Missense_Mutation_p.V1222M	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1222	Interaction with FBLP1.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCGGGTCAAGGTGGAGCCCGC	0.517																																						uc003djj.2		NA																	0				breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19						c.(3664-3666)GTG>ATG		filamin B isoform 2							33.0	36.0	35.0					3																	58109357		2171	4266	6437	SO:0001583	missense	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58109357G>A	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.3664G>A	3.37:g.58109357G>A	ENSP00000295956:p.Val1222Met					FLNB_uc010hne.2_Missense_Mutation_p.V1222M|FLNB_uc003djk.2_Missense_Mutation_p.V1222M|FLNB_uc010hnf.2_Missense_Mutation_p.V1222M|FLNB_uc003djl.2_Missense_Mutation_p.V1053M|FLNB_uc003djm.2_Missense_Mutation_p.V1053M	p.V1222M	NM_001457	NP_001448	O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	21	3829	+			1222			Interaction with FBLP1.|Filamin 10.		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	c.3664G>A	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.470663	0.84533	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63	5.89	5.89	0.94794	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.054372	0.64402	D	0.000001	D	0.94251	0.8154	H	0.95294	3.65	0.80722	D	1	D;D;D;D;D;D	0.71674	0.984;0.997;0.973;0.998;0.973;0.973	D;D;P;D;P;P	0.73708	0.958;0.937;0.881;0.981;0.881;0.881	D	0.95131	0.8255	10	0.87932	D	0	.	20.2617	0.98447	0.0:0.0:1.0:0.0	.	1222;1222;1053;1053;1222;1222	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	M	1222;1222;1222;1222;1222;1222;1053;1053	ENSP00000295956:V1222M;ENSP00000420213:V1222M;ENSP00000351339:V1222M;ENSP00000415599:V1222M;ENSP00000232447:V1222M;ENSP00000349819:V1222M;ENSP00000418510:V1053M;ENSP00000414532:V1053M	ENSP00000295956:V1222M	V	+	1	0	FLNB	58084397	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	9.869000	0.99810	2.793000	0.96121	0.655000	0.94253	GTG		0.517	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		16	33	0	0	0	0	16	33				
FOXP1	27086	broad.mit.edu	37	3	71019957	71019957	+	Splice_Site	SNP	C	C	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr3:71019957C>T	ENST00000318789.4	-	19	2178		c.e19-1		FOXP1_ENST00000491238.1_Splice_Site|FOXP1_ENST00000493089.1_Splice_Site|FOXP1_ENST00000498215.1_Splice_Site|FOXP1_ENST00000475937.1_Splice_Site|FOXP1_ENST00000484350.1_Splice_Site|FOXP1_ENST00000468577.1_Intron	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1						negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GGAAGGGTTACTGTGTAAGAA	0.433			T	PAX5	ALL																																	uc003dol.2		NA		Dom	yes		3	3p14.1	27086	T	forkhead box P1			L	PAX5		ALL		0				ovary(1)|lung(1)	2						c.e15-1		forkhead box P1 isoform 1							113.0	112.0	112.0					3																	71019957		2203	4300	6503	SO:0001630	splice_region_variant	27086				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr3:71019957C>T	AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.1653-1G>A	3.37:g.71019957C>T						FOXP1_uc003dom.2_Splice_Site_p.G475_splice|FOXP1_uc003don.2_Splice_Site|FOXP1_uc003doo.2_Splice_Site_p.G550_splice|FOXP1_uc003dop.2_Splice_Site_p.G551_splice|FOXP1_uc003doq.1_Intron|FOXP1_uc003doi.2_Splice_Site_p.G451_splice|FOXP1_uc003doj.2_Splice_Site_p.G451_splice|FOXP1_uc003dok.2_Splice_Site_p.G364_splice|FOXP1_uc003dor.1_3'UTR	p.G551_splice	NM_032682	NP_116071	Q9H334	FOXP1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)	15	1976	-		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)						A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Splice_Site	SNP	ENST00000318789.4	37	c.1653_splice	CCDS2914.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.233021	0.79688	.	.	ENSG00000114861	ENST00000318789;ENST00000358280;ENST00000475937;ENST00000497355;ENST00000491238;ENST00000493089;ENST00000498215;ENST00000484350	.	.	.	5.89	5.89	0.94794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3344	0.98733	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FOXP1	71102647	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	7.608000	0.82898	2.822000	0.97130	0.650000	0.86243	.		0.433	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	NM_032682	Intron	24	40	0	0	0	0	24	40				
MYH15	22989	broad.mit.edu	37	3	108163738	108163738	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr3:108163738C>A	ENST00000273353.3	-	23	2520	c.2464G>T	c.(2464-2466)Gca>Tca	p.A822S		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	822	IQ.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AAAATAAGTGCATCCCTAAAT	0.373																																						uc003dxa.1		NA																	0				ovary(5)|central_nervous_system(2)	7						c.(2464-2466)GCA>TCA		myosin, heavy polypeptide 15							61.0	58.0	59.0					3																	108163738		1935	4174	6109	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108163738C>A	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.2464G>T	3.37:g.108163738C>A	ENSP00000273353:p.Ala822Ser						p.A822S	NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN			23	2521	-			822			IQ.			Missense_Mutation	SNP	ENST00000273353.3	37	c.2464G>T	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.258500	0.23051	.	.	ENSG00000144821	ENST00000273353	T	0.75704	-0.96	5.24	-0.102	0.13613	.	.	.	.	.	T	0.76328	0.3972	L	0.61387	1.9	0.09310	N	1	P	0.47545	0.897	P	0.58210	0.835	T	0.63283	-0.6672	9	0.21540	T	0.41	.	5.5756	0.17220	0.1264:0.5926:0.0:0.281	.	822	Q9Y2K3	MYH15_HUMAN	S	822	ENSP00000273353:A822S	ENSP00000273353:A822S	A	-	1	0	MYH15	109646428	0.000000	0.05858	0.003000	0.11579	0.386000	0.30323	0.250000	0.18235	0.035000	0.15519	0.650000	0.86243	GCA		0.373	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		18	28	1	0	1.26e-06	1.5e-06	18	28				
DPPA2	151871	broad.mit.edu	37	3	109031513	109031513	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr3:109031513A>T	ENST00000478945.1	-	3	306	c.60T>A	c.(58-60)gaT>gaA	p.D20E		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	20					lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CACTTTCCTCATCATCTACTT	0.408																																						uc003dxo.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(58-60)GAT>GAA		developmental pluripotency associated 2							124.0	115.0	118.0					3																	109031513		2203	4300	6503	SO:0001583	missense	151871					nucleus	nucleic acid binding	g.chr3:109031513A>T	AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"""cancer/testis antigen 100"""	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.60T>A	3.37:g.109031513A>T	ENSP00000417710:p.Asp20Glu						p.D20E	NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN			3	307	-			20					Q8WVF0	Missense_Mutation	SNP	ENST00000478945.1	37	c.60T>A	CCDS2956.1	.	.	.	.	.	.	.	.	.	.	A	6.068	0.380827	0.11466	.	.	ENSG00000163530	ENST00000478945	T	0.50277	0.75	0.559	-0.752	0.11072	.	.	.	.	.	T	0.25644	0.0624	N	0.25647	0.755	0.09310	N	1	P	0.37370	0.592	B	0.31016	0.123	T	0.10042	-1.0647	8	0.31617	T	0.26	-9.3908	.	.	.	.	20	Q7Z7J5	DPPA2_HUMAN	E	20	ENSP00000417710:D20E	ENSP00000417710:D20E	D	-	3	2	DPPA2	110514203	0.819000	0.29175	0.218000	0.23776	0.193000	0.23685	-0.299000	0.08254	-0.344000	0.08338	-0.366000	0.07423	GAT		0.408	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353938.1	NM_138815		8	82	0	0	0	0	8	82				
POGLUT1	56983	broad.mit.edu	37	3	119199009	119199009	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr3:119199009G>C	ENST00000295588.4	+	5	652	c.568G>C	c.(568-570)Gat>Cat	p.D190H		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	190					cardiovascular system development (GO:0072358)|Notch signaling pathway (GO:0007219)|protein O-linked glycosylation (GO:0006493)|regulation of Notch signaling pathway (GO:0008593)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	glucosyltransferase activity (GO:0046527)|protein xylosyltransferase activity (GO:0030158)|UDP-glucosyltransferase activity (GO:0035251)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						CTTCAGAGAAGATCTGGTAAG	0.383																																						uc003ecm.2		NA																	0					0						c.(568-570)GAT>CAT		KTEL (Lys-Tyr-Glu-Leu) containing 1 precursor							105.0	101.0	102.0					3																	119199009		2203	4300	6503	SO:0001583	missense	56983					endoplasmic reticulum lumen	UDP-glucosyltransferase activity	g.chr3:119199009G>C	BC030614	CCDS2988.1	3q13.33	2010-09-29	2010-09-29	2010-09-29	ENSG00000163389	ENSG00000163389			22954	protein-coding gene	gene with protein product	"""KDELC family like 1"""	615618	"""chromosome 3 open reading frame 9"", ""KTEL (Lys-Tyr-Glu-Leu) containing 1"""	C3orf9, KTELC1		16524674	Standard	NM_152305		Approved	MDS010, MGC32995, 9630046K23Rik, MDSRP, hCLP46, KDELCL1, Rumi	uc003ecm.3	Q8NBL1	OTTHUMG00000159379	ENST00000295588.4:c.568G>C	3.37:g.119199009G>C	ENSP00000295588:p.Asp190His					KTELC1_uc011biz.1_RNA|KTELC1_uc011bja.1_Missense_Mutation_p.D31H	p.D190H	NM_152305	NP_689518	Q8NBL1	PGLT1_HUMAN		GBM - Glioblastoma multiforme(114;0.233)	5	652	+			190					B2RD13|Q53GJ4|Q8N2T1	Missense_Mutation	SNP	ENST00000295588.4	37	c.568G>C	CCDS2988.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.24|13.24	2.178962|2.178962	0.38511|0.38511	.|.	.|.	ENSG00000163389|ENSG00000163389	ENST00000295588|ENST00000476573	T|.	0.24350|.	1.86|.	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	0.051147|.	0.85682|.	D|.	0.000000|.	T|T	0.58293|0.58293	0.2112|0.2112	L|L	0.39898|0.39898	1.24|1.24	0.80722|0.80722	D|D	1|1	B|.	0.11235|.	0.004|.	B|.	0.14578|.	0.011|.	T|T	0.53788|0.53788	-0.8389|-0.8389	10|5	0.35671|.	T|.	0.21|.	-12.2679|-12.2679	13.5814|13.5814	0.61905|0.61905	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	190|.	Q8NBL1|.	PGLT1_HUMAN|.	H|T	190|176	ENSP00000295588:D190H|.	ENSP00000295588:D190H|.	D|R	+|+	1|2	0|0	POGLUT1|POGLUT1	120681699|120681699	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.994000|0.994000	0.84299|0.84299	9.047000|9.047000	0.93823|0.93823	2.582000|2.582000	0.87167|0.87167	0.655000|0.655000	0.94253|0.94253	GAT|AGA		0.383	POGLUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355034.2	NM_152305		10	34	0	0	0	0	10	34				
POGLUT1	56983	broad.mit.edu	37	3	119210421	119210421	+	Splice_Site	SNP	G	G	C			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr3:119210421G>C	ENST00000295588.4	+	10	1106	c.1022G>C	c.(1021-1023)aGg>aCg	p.R341T		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	341					cardiovascular system development (GO:0072358)|Notch signaling pathway (GO:0007219)|protein O-linked glycosylation (GO:0006493)|regulation of Notch signaling pathway (GO:0008593)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	glucosyltransferase activity (GO:0046527)|protein xylosyltransferase activity (GO:0030158)|UDP-glucosyltransferase activity (GO:0035251)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						ATTGCTGAAAGGTGAGTTCTG	0.343																																						uc003ecm.2		NA																	0					0						c.(1021-1023)AGG>ACG		KTEL (Lys-Tyr-Glu-Leu) containing 1 precursor							233.0	217.0	222.0					3																	119210421		2203	4300	6503	SO:0001630	splice_region_variant	56983					endoplasmic reticulum lumen	UDP-glucosyltransferase activity	g.chr3:119210421G>C	BC030614	CCDS2988.1	3q13.33	2010-09-29	2010-09-29	2010-09-29	ENSG00000163389	ENSG00000163389			22954	protein-coding gene	gene with protein product	"""KDELC family like 1"""	615618	"""chromosome 3 open reading frame 9"", ""KTEL (Lys-Tyr-Glu-Leu) containing 1"""	C3orf9, KTELC1		16524674	Standard	NM_152305		Approved	MDS010, MGC32995, 9630046K23Rik, MDSRP, hCLP46, KDELCL1, Rumi	uc003ecm.3	Q8NBL1	OTTHUMG00000159379	ENST00000295588.4:c.1022+1G>C	3.37:g.119210421G>C						KTELC1_uc011bja.1_Missense_Mutation_p.R182T	p.R341T	NM_152305	NP_689518	Q8NBL1	PGLT1_HUMAN		GBM - Glioblastoma multiforme(114;0.233)	10	1106	+			341					B2RD13|Q53GJ4|Q8N2T1	Missense_Mutation	SNP	ENST00000295588.4	37	c.1022G>C	CCDS2988.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337429	0.81911	.	.	ENSG00000163389	ENST00000295588	T	0.23348	1.91	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.50633	0.1627	M	0.78285	2.405	0.80722	D	1	D	0.67145	0.996	D	0.72338	0.977	T	0.44143	-0.9347	10	0.42905	T	0.14	-15.8874	14.4085	0.67099	0.0:0.0:1.0:0.0	.	341	Q8NBL1	PGLT1_HUMAN	T	341	ENSP00000295588:R341T	ENSP00000295588:R341T	R	+	2	0	POGLUT1	120693111	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	7.569000	0.82380	2.857000	0.98124	0.650000	0.86243	AGG		0.343	POGLUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355034.2	NM_152305	Missense_Mutation	3	15	0	0	0	0	3	15				
NPHP3	27031	broad.mit.edu	37	3	132435712	132435712	+	Missense_Mutation	SNP	C	C	T	rs147399998		TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr3:132435712C>T	ENST00000337331.5	-	4	798	c.712G>A	c.(712-714)Gga>Aga	p.G238R	NPHP3_ENST00000326682.8_Missense_Mutation_p.G238R|NPHP3_ENST00000476742.1_5'Flank	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	238					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGTTCACTTCCCAAGGCTCCG	0.448																																						uc003epe.1		NA																	0				ovary(1)	1						c.(712-714)GGA>AGA		nephrocystin 3							75.0	70.0	72.0					3																	132435712		2203	4300	6503	SO:0001583	missense	27031				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	g.chr3:132435712C>T	AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"""Tetratricopeptide (TTC) repeat domain containing"""	7907	protein-coding gene	gene with protein product	"""nephrocystin-3"", ""Meckel syndrome, type 7"", ""cilia and flagella associated protein 31"""	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.712G>A	3.37:g.132435712C>T	ENSP00000338766:p.Gly238Arg					NPHP3_uc003epf.1_5'UTR	p.G238R	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN			4	789	-			238					Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Missense_Mutation	SNP	ENST00000337331.5	37	c.712G>A	CCDS3078.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.011442	0.75046	.	.	ENSG00000113971	ENST00000326682;ENST00000337331	D;D	0.93811	-3.29;-3.21	6.13	6.13	0.99165	.	0.111469	0.64402	D	0.000006	D	0.96100	0.8729	M	0.64997	1.995	0.80722	D	1	D	0.76494	0.999	D	0.68943	0.961	D	0.95805	0.8836	10	0.72032	D	0.01	-13.6895	19.0207	0.92915	0.0:1.0:0.0:0.0	.	238	Q7Z494	NPHP3_HUMAN	R	238	ENSP00000319909:G238R;ENSP00000338766:G238R	ENSP00000319909:G238R	G	-	1	0	NPHP3	133918402	1.000000	0.71417	1.000000	0.80357	0.194000	0.23727	7.818000	0.86416	2.932000	0.99384	0.644000	0.83932	GGA		0.448	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	NM_153240		6	38	0	0	0	0	6	38				
ATR	545	broad.mit.edu	37	3	142242944	142242944	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr3:142242944G>A	ENST00000350721.4	-	22	4164	c.4043C>T	c.(4042-4044)tCt>tTt	p.S1348F	ATR_ENST00000383101.3_Missense_Mutation_p.S1284F	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1348					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CCGAGCTTGAGAGTTTGCATC	0.413								Other conserved DNA damage response genes																														uc003eux.3		NA																	0				lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						c.(4042-4044)TCT>TTT	Other_conserved_DNA_damage_response_genes	ataxia telangiectasia and Rad3 related protein							118.0	111.0	114.0					3																	142242944		2203	4300	6503	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142242944G>A	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.4043C>T	3.37:g.142242944G>A	ENSP00000343741:p.Ser1348Phe						p.S1348F	NM_001184	NP_001175	Q13535	ATR_HUMAN			22	4165	-			1348			HEAT 2.		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.4043C>T	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.556390	0.86231	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.68025	3.44;-0.3	5.57	5.57	0.84162	Armadillo-like helical (1);Armadillo-type fold (1);	0.130774	0.56097	D	0.000037	T	0.67869	0.2939	L	0.43923	1.385	0.50813	D	0.999894	D	0.53151	0.958	P	0.47044	0.535	T	0.69778	-0.5053	10	0.54805	T	0.06	-17.8362	19.9047	0.97002	0.0:0.0:1.0:0.0	.	1348	Q13535	ATR_HUMAN	F	1348;1284	ENSP00000343741:S1348F;ENSP00000372581:S1284F	ENSP00000343741:S1348F	S	-	2	0	ATR	143725634	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.384000	0.73177	2.763000	0.94921	0.655000	0.94253	TCT		0.413	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		7	63	0	0	0	0	7	63				
ARHGEF26	26084	broad.mit.edu	37	3	153840415	153840415	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr3:153840415G>A	ENST00000356448.4	+	2	918	c.634G>A	c.(634-636)Gaa>Aaa	p.E212K	ARHGEF26-AS1_ENST00000491862.1_RNA|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.E212K|ARHGEF26_ENST00000465817.1_Missense_Mutation_p.E212K|ARHGEF26-AS1_ENST00000480639.1_RNA|ARHGEF26-AS1_ENST00000467912.1_RNA|ARHGEF26-AS1_ENST00000479270.1_RNA	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	212					endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						AAGTTCTTCGGAACAAAAACT	0.587																																					GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)	uc011bog.1		NA																	0				large_intestine(1)	1						c.(634-636)GAA>AAA		Src homology 3 domain-containing guanine							21.0	23.0	22.0					3																	153840415		1821	4076	5897	SO:0001583	missense	26084				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity	g.chr3:153840415G>A	BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24490	protein-coding gene	gene with protein product	"""Src homology 3 domain-containing guanine nucleotide exchange factor"""					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.634G>A	3.37:g.153840415G>A	ENSP00000348828:p.Glu212Lys					uc003ezu.1_5'Flank|SGEF_uc011boh.1_Missense_Mutation_p.E212K	p.E212K	NM_015595	NP_056410	Q96DR7	ARHGQ_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		2	845	+			212					B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Missense_Mutation	SNP	ENST00000356448.4	37	c.634G>A	CCDS46938.1	.	.	.	.	.	.	.	.	.	.	G	10.35	1.326125	0.24080	.	.	ENSG00000114790	ENST00000356448;ENST00000465093;ENST00000465817	T;T;T	0.57107	0.42;0.42;2.2	4.82	4.82	0.62117	.	0.457912	0.21812	N	0.068751	T	0.35189	0.0923	N	0.19112	0.55	0.09310	N	1	B;B	0.33694	0.421;0.421	B;B	0.30646	0.118;0.083	T	0.15350	-1.0440	10	0.06891	T	0.86	-14.7771	17.4966	0.87719	0.0:0.0:1.0:0.0	.	212;212	E9PBD0;Q96DR7	.;ARHGQ_HUMAN	K	212	ENSP00000348828:E212K;ENSP00000423418:E212K;ENSP00000423295:E212K	ENSP00000348828:E212K	E	+	1	0	ARHGEF26	155323105	0.904000	0.30761	0.168000	0.22838	0.042000	0.13812	4.217000	0.58547	2.201000	0.70794	0.655000	0.94253	GAA		0.587	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353287.3	NM_015595		59	50	0	0	0	0	59	50				
MECOM	2122	broad.mit.edu	37	3	168838941	168838941	+	Silent	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr3:168838941G>T	ENST00000464456.1	-	6	1671	c.471C>A	c.(469-471)gcC>gcA	p.A157A	MECOM_ENST00000494292.1_Silent_p.A345A|MECOM_ENST00000433243.2_Silent_p.A158A|MECOM_ENST00000264674.3_Silent_p.A222A|MECOM_ENST00000460814.1_Silent_p.A157A|MECOM_ENST00000472280.1_Silent_p.A158A|MECOM_ENST00000392736.3_Silent_p.A157A|MECOM_ENST00000468789.1_Silent_p.A157A	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CATGGGCCCGGGCACCGACAT	0.512																																						uc003ffi.3		NA																	0				lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						c.(469-471)GCC>GCA		MDS1 and EVI1 complex locus isoform b							113.0	105.0	108.0					3																	168838941		2203	4300	6503	SO:0001819	synonymous_variant	2122				apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:168838941G>T	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.471C>A	3.37:g.168838941G>T						MECOM_uc010hwk.1_Silent_p.A180A|MECOM_uc003ffj.3_Silent_p.A222A|MECOM_uc011bpi.1_Silent_p.A158A|MECOM_uc003ffn.3_Silent_p.A157A|MECOM_uc003ffk.2_Silent_p.A157A|MECOM_uc003ffl.2_Silent_p.A317A|MECOM_uc011bpj.1_Silent_p.A345A|MECOM_uc011bpk.1_Silent_p.A147A|MECOM_uc010hwn.2_Silent_p.A345A	p.A157A	NM_005241	NP_005232	Q03112	EVI1_HUMAN			6	740	-			157			Interaction with MAPK9, SMAD3 and probably SUV39H1.		Q13466|Q6FH90	Silent	SNP	ENST00000464456.1	37	c.471C>A	CCDS54669.1																																																																																				0.512	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		49	47	1	0	3.22e-24	4.46e-24	49	47				
OPA1	4976	broad.mit.edu	37	3	193332569	193332569	+	Silent	SNP	A	A	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr3:193332569A>T	ENST00000392438.3	+	2	324	c.90A>T	c.(88-90)ctA>ctT	p.L30L	OPA1_ENST00000361150.2_Silent_p.L30L|OPA1_ENST00000361908.3_Silent_p.L30L|OPA1_ENST00000361715.2_Silent_p.L30L|OPA1_ENST00000361510.2_Silent_p.L30L|OPA1_ENST00000361828.2_Silent_p.L30L	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	30					apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		GTTTACCACTACAAAAACTAC	0.388																																						uc003ftm.2		NA																	0					0						c.(88-90)CTA>CTT		optic atrophy 1 isoform 1							119.0	108.0	111.0					3																	193332569		2203	4300	6503	SO:0001819	synonymous_variant	4976				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	g.chr3:193332569A>T	AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.90A>T	3.37:g.193332569A>T						OPA1_uc003ftg.2_Silent_p.L30L|OPA1_uc003fth.2_Silent_p.L30L|OPA1_uc003fti.2_Silent_p.L30L|OPA1_uc003ftj.2_Silent_p.L30L|OPA1_uc003ftk.2_Silent_p.L30L|OPA1_uc003ftl.2_Silent_p.L30L|OPA1_uc003ftn.2_Silent_p.L30L	p.L30L	NM_015560	NP_056375	O60313	OPA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)	2	324	+	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		30					D3DNW4	Silent	SNP	ENST00000392438.3	37	c.90A>T	CCDS43186.1																																																																																				0.388	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837		47	46	0	0	0	0	47	46				
ATP8A1	10396	broad.mit.edu	37	4	42576696	42576696	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr4:42576696C>G	ENST00000381668.5	-	14	1466	c.1235G>C	c.(1234-1236)gGt>gCt	p.G412A	ATP8A1_ENST00000264449.10_Missense_Mutation_p.G412A	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	412					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TGTCAGAGTACCAGTTTTGTC	0.323																																						uc003gwr.2		NA																	0				skin(2)|central_nervous_system(1)	3						c.(1234-1236)GGT>GCT		ATPase, aminophospholipid transporter (APLT),	Phosphatidylserine(DB00144)						55.0	56.0	55.0					4																	42576696		2203	4299	6502	SO:0001583	missense	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42576696C>G	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.1235G>C	4.37:g.42576696C>G	ENSP00000371084:p.Gly412Ala					ATP8A1_uc003gws.2_Missense_Mutation_p.G412A|ATP8A1_uc011byz.1_Missense_Mutation_p.G412A	p.G412A	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN			14	1467	-			412			Cytoplasmic (Potential).		Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	ENST00000381668.5	37	c.1235G>C	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.666009	0.88251	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	D;D	0.82081	-1.57;-1.57	5.53	5.53	0.82687	HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.95698	0.8601	H	0.99545	4.62	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.981;0.992;0.997	D	0.97582	1.0111	10	0.72032	D	0.01	.	19.4736	0.94973	0.0:1.0:0.0:0.0	.	412;412;412	B4DII6;Q32M35;Q9Y2Q0	.;.;AT8A1_HUMAN	A	412	ENSP00000371084:G412A;ENSP00000264449:G412A	ENSP00000264449:G412A	G	-	2	0	ATP8A1	42271453	1.000000	0.71417	0.767000	0.31495	0.851000	0.48451	7.752000	0.85141	2.596000	0.87737	0.591000	0.81541	GGT		0.323	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		4	24	0	0	0	0	4	24				
UBA6	55236	broad.mit.edu	37	4	68490770	68490770	+	Missense_Mutation	SNP	C	C	T	rs140996878		TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr4:68490770C>T	ENST00000322244.5	-	29	2713	c.2654G>A	c.(2653-2655)cGc>cAc	p.R885H		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	885					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)	p.R885H(1)		central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						ACCAGCTATGCGCTTTGTTTT	0.373																																						uc003hdg.3		NA																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(2653-2655)CGC>CAC		ubiquitin-activating enzyme E1-like 2		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	123.0	112.0	116.0		2654	5.5	1.0	4	dbSNP_134	116	0,8598		0,0,4299	no	missense	UBA6	NM_018227.5	29	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	885/1053	68490770	1,13003	2203	4299	6502	SO:0001583	missense	55236				protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	g.chr4:68490770C>T	AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"""Ubiquitin-like modifier activating enzymes"""	25581	protein-coding gene	gene with protein product	"""UBA6, ubiquitin-activating enzyme E1"""	611361	"""ubiquitin-activating enzyme E1-like 2"""	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.2654G>A	4.37:g.68490770C>T	ENSP00000313454:p.Arg885His						p.R885H	NM_018227	NP_060697	A0AVT1	UBA6_HUMAN			29	2706	-			885					A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Missense_Mutation	SNP	ENST00000322244.5	37	c.2654G>A	CCDS3516.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.999939	0.74818	2.27E-4	0.0	ENSG00000033178	ENST00000322244	T	0.45668	0.89	5.52	5.52	0.82312	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.000000	0.85682	D	0.000000	T	0.68604	0.3019	M	0.86740	2.835	0.80722	D	1	D	0.89917	1.0	D	0.65874	0.939	T	0.72874	-0.4160	10	0.52906	T	0.07	-13.1519	17.6191	0.88076	0.0:1.0:0.0:0.0	.	885	A0AVT1	UBA6_HUMAN	H	885	ENSP00000313454:R885H	ENSP00000313454:R885H	R	-	2	0	UBA6	68173365	1.000000	0.71417	0.998000	0.56505	0.333000	0.28666	7.008000	0.76341	2.566000	0.86566	0.655000	0.94253	CGC		0.373	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227		8	45	0	0	0	0	8	45				
SLC4A4	8671	broad.mit.edu	37	4	72420881	72420881	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr4:72420881G>C	ENST00000264485.5	+	21	2836	c.2719G>C	c.(2719-2721)Ggt>Cgt	p.G907R	SLC4A4_ENST00000425175.1_Missense_Mutation_p.G907R|SLC4A4_ENST00000340595.3_Missense_Mutation_p.G863R|SLC4A4_ENST00000351898.6_Missense_Mutation_p.G823R	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	907					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	TGTACTCTATGGTGTGTTCCT	0.328																																						uc003hfy.2		NA																	0				ovary(3)|kidney(1)|skin(1)	5						c.(2719-2721)GGT>CGT		solute carrier family 4, sodium bicarbonate							284.0	282.0	282.0					4																	72420881		2203	4300	6503	SO:0001583	missense	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72420881G>C	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.2719G>C	4.37:g.72420881G>C	ENSP00000264485:p.Gly907Arg					SLC4A4_uc010iic.2_Missense_Mutation_p.G907R|SLC4A4_uc010iib.2_Missense_Mutation_p.G823R|SLC4A4_uc003hfz.2_Missense_Mutation_p.G907R|SLC4A4_uc003hgc.3_Missense_Mutation_p.G863R|SLC4A4_uc010iid.2_Missense_Mutation_p.G111R	p.G907R	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		21	2836	+			907			Cytoplasmic (Potential).		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	c.2719G>C	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785844	0.90282	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000340595	D;D;T;D	0.89810	-2.57;-2.57;-1.26;-2.57	5.75	5.75	0.90469	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96694	0.8921	H	0.96398	3.815	0.80722	D	1	D;D;D;D	0.89917	1.0;0.981;1.0;1.0	D;P;D;D	0.97110	1.0;0.86;0.999;1.0	D	0.97178	0.9849	10	0.87932	D	0	.	20.3046	0.98621	0.0:0.0:1.0:0.0	.	907;823;863;907	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1	.;.;.;S4A4_HUMAN	R	907;907;823;863	ENSP00000264485:G907R;ENSP00000393557:G907R;ENSP00000307349:G823R;ENSP00000344272:G863R	ENSP00000264485:G907R	G	+	1	0	SLC4A4	72639745	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	9.779000	0.99018	2.878000	0.98634	0.650000	0.86243	GGT		0.328	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		28	210	0	0	0	0	28	210				
CXCL1	2919	broad.mit.edu	37	4	74735491	74735491	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr4:74735491G>A	ENST00000395761.3	+	2	273	c.206G>A	c.(205-207)tGc>tAc	p.C69Y	CXCL1_ENST00000509101.1_3'UTR	NM_001511.3	NP_001502.1	P09341	GROA_HUMAN	chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha)	69					actin cytoskeleton organization (GO:0030036)|cell chemotaxis (GO:0060326)|cell proliferation (GO:0008283)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|positive regulation of catalytic activity (GO:0043085)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|enzyme activator activity (GO:0008047)|receptor binding (GO:0005102)			lung(2)	2	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GGACCCCACTGCGCCCAAACC	0.652																																						uc003hhh.1		NA																	0					0						c.(205-207)TGC>TAC		chemokine (C-X-C motif) ligand 1							83.0	101.0	95.0					4																	74735491		2203	4300	6503	SO:0001583	missense	2919				actin cytoskeleton organization|cell proliferation|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|intracellular signal transduction|negative regulation of cell proliferation|nervous system development	extracellular space|intracellular	chemokine activity|enzyme activator activity|growth factor activity	g.chr4:74735491G>A	J03561	CCDS47074.1	4q13.3	2013-02-25	2002-08-22	2002-08-23		ENSG00000163739		"""Endogenous ligands"""	4602	protein-coding gene	gene with protein product		155730	"""GRO1 oncogene (melanoma growth stimulating activity, alpha)"", ""fibroblast secretory protein"""	MGSA, GRO1, FSP		2217207	Standard	NM_001511		Approved	SCYB1, GROa, MGSA-a, NAP-3	uc003hhh.3	P09341		ENST00000395761.3:c.206G>A	4.37:g.74735491G>A	ENSP00000379110:p.Cys69Tyr						p.C69Y	NM_001511	NP_001502	P09341	GROA_HUMAN	all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		2	285	+	Breast(15;0.00102)		69					Q9UCR7	Missense_Mutation	SNP	ENST00000395761.3	37	c.206G>A	CCDS47074.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697285	0.48202	.	.	ENSG00000163739	ENST00000395761	D	0.85861	-2.04	5.08	5.08	0.68730	CXC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.000000	0.85682	D	0.000000	D	0.94984	0.8377	H	0.97732	4.065	0.58432	D	0.99999	D	0.89917	1.0	D	0.97110	1.0	D	0.96392	0.9290	10	0.87932	D	0	.	13.9581	0.64162	0.0:0.0:1.0:0.0	.	69	P09341	GROA_HUMAN	Y	69	ENSP00000379110:C69Y	ENSP00000379110:C69Y	C	+	2	0	CXCL1	74954355	1.000000	0.71417	0.860000	0.33809	0.016000	0.09150	5.832000	0.69337	2.349000	0.79799	0.655000	0.94253	TGC		0.652	CXCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362734.1			65	101	0	0	0	0	65	101				
FGF5	2250	broad.mit.edu	37	4	81196135	81196135	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr4:81196135C>G	ENST00000312465.7	+	2	654	c.428C>G	c.(427-429)gCg>gGg	p.A143G	FGF5_ENST00000456523.3_Intron|FGF5_ENST00000503413.1_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	143					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell differentiation (GO:0010001)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction involved in regulation of gene expression (GO:0023019)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	fibroblast growth factor receptor binding (GO:0005104)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						AAATTTTTAGCGATGTCAAAA	0.318																																						uc003hmd.2		NA																	0				ovary(1)|breast(1)	2						c.(427-429)GCG>GGG		fibroblast growth factor 5 isoform 1 precursor							87.0	88.0	87.0					4																	81196135		2203	4300	6503	SO:0001583	missense	2250				cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity	g.chr4:81196135C>G	M23534	CCDS3586.1, CCDS34021.1	4q21	2014-01-30			ENSG00000138675	ENSG00000138675		"""Endogenous ligands"""	3683	protein-coding gene	gene with protein product		165190				3211147, 2577873	Standard	NM_001291812		Approved		uc003hmd.3	P12034	OTTHUMG00000130288	ENST00000312465.7:c.428C>G	4.37:g.81196135C>G	ENSP00000311697:p.Ala143Gly					FGF5_uc003hme.2_Intron	p.A143G	NM_004464	NP_004455	P12034	FGF5_HUMAN			2	665	+			143					B2R554|O75846|Q3Y8M3|Q8NF90	Missense_Mutation	SNP	ENST00000312465.7	37	c.428C>G	CCDS34021.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.008706	0.75046	.	.	ENSG00000138675	ENST00000312465	T	0.72615	-0.67	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.69753	0.3146	L	0.56199	1.76	0.80722	D	1	B	0.20052	0.041	B	0.26864	0.074	T	0.63576	-0.6606	10	0.30078	T	0.28	.	19.7147	0.96110	0.0:1.0:0.0:0.0	.	143	P12034	FGF5_HUMAN	G	143	ENSP00000311697:A143G	ENSP00000311697:A143G	A	+	2	0	FGF5	81415159	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.158000	0.77470	2.732000	0.93576	0.591000	0.81541	GCG		0.318	FGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252627.2			6	14	0	0	0	0	6	14				
HERC6	55008	broad.mit.edu	37	4	89326088	89326088	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr4:89326088T>A	ENST00000264346.7	+	9	1212	c.1153T>A	c.(1153-1155)Tcc>Acc	p.S385T	HERC6_ENST00000380265.5_Missense_Mutation_p.S385T	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	385					hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		AATTAGCCAGTCCATGGCAGA	0.428																																						uc011cdi.1		NA																	0				lung(3)|ovary(1)|kidney(1)	5						c.(1153-1155)TCC>ACC		hect domain and RLD 6 isoform 1							132.0	124.0	127.0					4																	89326088		1856	4102	5958	SO:0001583	missense	55008				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity	g.chr4:89326088T>A	AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"""hect domain and RLD 6"""				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.1153T>A	4.37:g.89326088T>A	ENSP00000264346:p.Ser385Thr					HERC6_uc011cdj.1_Missense_Mutation_p.S385T|HERC6_uc011cdk.1_Intron|HERC6_uc011cdl.1_Intron	p.S385T	NM_017912	NP_060382	Q8IVU3	HERC6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000222)	9	1336	+		Hepatocellular(203;0.114)	385					B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Missense_Mutation	SNP	ENST00000264346.7	37	c.1153T>A	CCDS47098.1	.	.	.	.	.	.	.	.	.	.	T	2.371	-0.344336	0.05208	.	.	ENSG00000138642	ENST00000380265;ENST00000264346	T;T	0.38240	1.15;1.15	4.79	-2.82	0.05787	.	0.515010	0.18977	N	0.125980	T	0.22322	0.0538	L	0.50333	1.59	0.09310	N	0.999999	B;B	0.12630	0.006;0.003	B;B	0.12837	0.008;0.004	T	0.21381	-1.0247	10	0.16420	T	0.52	.	4.5441	0.12073	0.143:0.3291:0.0:0.5279	.	385;385	Q8IVU3-2;Q8IVU3	.;HERC6_HUMAN	T	385	ENSP00000369617:S385T;ENSP00000264346:S385T	ENSP00000264346:S385T	S	+	1	0	HERC6	89545111	0.000000	0.05858	0.001000	0.08648	0.091000	0.18340	-0.192000	0.09587	-0.224000	0.09928	0.397000	0.26171	TCC		0.428	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363259.2			21	45	0	0	0	0	21	45				
MTRR	4552	broad.mit.edu	37	5	7873625	7873625	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr5:7873625G>T	ENST00000264668.2	+	3	380	c.350G>T	c.(349-351)cGg>cTg	p.R117L	MTRR_ENST00000341013.6_Intron|MTRR_ENST00000440940.2_Missense_Mutation_p.R90L|MTRR_ENST00000502509.1_Intron	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	117	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	[methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	GCTCACCTGCGGTATGGGTTA	0.443																																						uc003jed.2		NA																	0				ovary(1)	1						c.(349-351)CGG>CTG		methionine synthase reductase isoform 2	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)						136.0	138.0	137.0					5																	7873625		2203	4300	6503	SO:0001583	missense	4552				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding	g.chr5:7873625G>T	AF025794	CCDS3874.1, CCDS47190.1	5p15.31	2011-05-12			ENSG00000124275	ENSG00000124275	1.16.1.8		7473	protein-coding gene	gene with protein product		602568				9501215	Standard	NM_024010		Approved	cblE	uc003jed.3	Q9UBK8	OTTHUMG00000090477	ENST00000264668.2:c.350G>T	5.37:g.7873625G>T	ENSP00000264668:p.Arg117Leu					MTRR_uc010itn.1_Intron|MTRR_uc003jee.3_Missense_Mutation_p.R90L|MTRR_uc003jef.3_RNA|MTRR_uc003jeg.3_Intron|MTRR_uc010ito.2_RNA	p.R117L	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN			3	380	+			117			Flavodoxin-like.		O60471|Q32MA9|Q7Z4M8	Missense_Mutation	SNP	ENST00000264668.2	37	c.350G>T	CCDS3874.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.531841	0.45073	.	.	ENSG00000124275	ENST00000264668;ENST00000440940;ENST00000502550;ENST00000512217	T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92	5.47	3.67	0.42095	Flavodoxin/nitric oxide synthase (2);	0.519926	0.21695	N	0.070517	T	0.75496	0.3857	M	0.76938	2.355	0.80722	D	1	P	0.45212	0.853	P	0.45506	0.483	T	0.73493	-0.3965	10	0.48119	T	0.1	-14.8435	8.5963	0.33718	0.314:0.0:0.686:0.0	.	117	Q9UBK8	MTRR_HUMAN	L	117;90;90;90	ENSP00000264668:R117L;ENSP00000402510:R90L;ENSP00000424599:R90L;ENSP00000421318:R90L	ENSP00000264668:R117L	R	+	2	0	MTRR	7926625	0.185000	0.23213	0.990000	0.47175	0.981000	0.71138	0.475000	0.22164	0.663000	0.31027	0.655000	0.94253	CGG		0.443	MTRR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206931.1			11	42	1	0	2.27e-07	2.74e-07	11	42				
ANKRD34B	340120	broad.mit.edu	37	5	79855683	79855683	+	Silent	SNP	C	C	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr5:79855683C>T	ENST00000338682.3	-	5	828	c.156G>A	c.(154-156)aaG>aaA	p.K52K		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	52						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		CATGTTTGGTCTTACAAGCGA	0.463																																						uc010jam.2		NA																	0				pancreas(1)	1						c.(154-156)AAG>AAA		ankyrin repeat domain 34B							139.0	143.0	141.0					5																	79855683		2203	4300	6503	SO:0001819	synonymous_variant	340120					cytoplasm|nucleus		g.chr5:79855683C>T		CCDS34194.1	5q14.1	2014-08-12			ENSG00000189127	ENSG00000189127		"""Ankyrin repeat domain containing"""	33736	protein-coding gene	gene with protein product							Standard	NM_001004441		Approved	DP58	uc003kgw.3	A5PLL1	OTTHUMG00000162541	ENST00000338682.3:c.156G>A	5.37:g.79855683C>T						ANKRD34B_uc003kgw.2_Silent_p.K52K|ANKRD34B_uc010jan.2_Silent_p.K52K	p.K52K	NM_001004441	NP_001004441	A5PLL1	AN34B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)	4	506	-		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)	52			ANK 2.		B2RPH1|Q68D79	Silent	SNP	ENST00000338682.3	37	c.156G>A	CCDS34194.1																																																																																				0.463	ANKRD34B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369475.1	NM_001004441		23	143	0	0	0	0	23	143				
MEF2C	4208	broad.mit.edu	37	5	88047801	88047801	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr5:88047801A>C	ENST00000437473.2	-	5	879	c.462T>G	c.(460-462)agT>agG	p.S154R	MEF2C_ENST00000514028.1_Missense_Mutation_p.S154R|MEF2C_ENST00000340208.5_Missense_Mutation_p.S172R|MEF2C_ENST00000424173.2_Missense_Mutation_p.S152R|MEF2C_ENST00000503554.1_5'UTR|MEF2C_ENST00000506554.1_Missense_Mutation_p.S154R|MEF2C_ENST00000510942.1_Missense_Mutation_p.S154R|MEF2C_ENST00000508569.1_Missense_Mutation_p.S154R|MEF2C_ENST00000514015.1_Missense_Mutation_p.S154R|MEF2C_ENST00000539796.1_Missense_Mutation_p.S106R|MEF2C_ENST00000504921.2_Missense_Mutation_p.S154R	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	154	Ser-rich.				apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TGTACACCAAACTGTTGTGGC	0.493										HNSCC(66;0.2)																												uc003kjj.2		NA																	0				lung(3)|breast(2)|ovary(1)|large_intestine(1)	7						c.(460-462)AGT>AGG		myocyte enhancer factor 2C isoform 1							156.0	159.0	158.0					5																	88047801		1964	4171	6135	SO:0001583	missense	4208				apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr5:88047801A>C	AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"""Myocyte enhancer factors"""	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.462T>G	5.37:g.88047801A>C	ENSP00000396219:p.Ser154Arg	HNSCC(66;0.2)				MEF2C_uc003kji.2_Missense_Mutation_p.S154R|MEF2C_uc003kjk.2_Missense_Mutation_p.S154R|MEF2C_uc003kjm.2_Missense_Mutation_p.S152R|MEF2C_uc003kjl.2_Missense_Mutation_p.S172R	p.S154R	NM_002397	NP_002388	Q06413	MEF2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)	5	1135	-		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)	154			Ser-rich.		C9JMZ0|D7F7N5|F8W7V7	Missense_Mutation	SNP	ENST00000437473.2	37	c.462T>G	CCDS47245.1	.	.	.	.	.	.	.	.	.	.	A	19.15	3.772355	0.69992	.	.	ENSG00000081189	ENST00000340208;ENST00000424173;ENST00000504921;ENST00000514028;ENST00000437473;ENST00000510942;ENST00000506554;ENST00000508569;ENST00000514015;ENST00000539796;ENST00000513252;ENST00000506716	T;T;T;T;T;T;T;T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;0.62;-0.14;-0.14	5.72	-2.0	0.07433	Holliday junction regulator protein family C-terminal repeat (1);	0.043596	0.85682	D	0.000000	T	0.67590	0.2909	L	0.55481	1.735	0.42336	D	0.992312	P;D;P;D	0.62365	0.464;0.989;0.772;0.991	P;P;P;P	0.61397	0.477;0.888;0.486;0.865	T	0.68443	-0.5407	10	0.62326	D	0.03	-5.5088	12.4094	0.55459	0.4969:0.0:0.5031:0.0	.	152;172;154;154	C9JMZ0;F8W7V7;Q06413;Q06413-2	.;.;MEF2C_HUMAN;.	R	172;152;154;154;154;154;154;154;154;106;152;152	ENSP00000340874:S172R;ENSP00000389610:S152R;ENSP00000421925:S154R;ENSP00000426665:S154R;ENSP00000396219:S154R;ENSP00000422390:S154R;ENSP00000425636:S154R;ENSP00000423597:S154R;ENSP00000424606:S154R;ENSP00000441153:S106R;ENSP00000423826:S152R;ENSP00000423656:S152R	ENSP00000340874:S172R	S	-	3	2	MEF2C	88083557	0.951000	0.32395	0.967000	0.41034	0.976000	0.68499	0.717000	0.25851	-0.348000	0.08286	0.377000	0.23210	AGT		0.493	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369817.1	NM_002397		13	89	0	0	0	0	13	89				
MCTP1	79772	broad.mit.edu	37	5	94288963	94288963	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr5:94288963C>G	ENST00000515393.1	-	3	940	c.941G>C	c.(940-942)tGt>tCt	p.C314S	MCTP1_ENST00000429576.2_Missense_Mutation_p.C93S|MCTP1_ENST00000505208.1_Missense_Mutation_p.C93S|MCTP1_ENST00000312216.8_Missense_Mutation_p.C93S	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	314	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		AACCAGAATACAAGCTTTTTC	0.368																																						uc003kkx.2		NA																	0				ovary(2)	2						c.(940-942)TGT>TCT		multiple C2 domains, transmembrane 1 isoform L							114.0	104.0	107.0					5																	94288963		2203	4299	6502	SO:0001583	missense	79772				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr5:94288963C>G		CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.941G>C	5.37:g.94288963C>G	ENSP00000424126:p.Cys314Ser					MCTP1_uc003kkv.2_Missense_Mutation_p.C93S|MCTP1_uc003kkw.2_Missense_Mutation_p.C93S|MCTP1_uc003kkz.2_5'UTR	p.C314S	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN		all cancers(79;9.1e-17)	3	941	-		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)	314			C2 1.		Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Missense_Mutation	SNP	ENST00000515393.1	37	c.941G>C	CCDS34203.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.674|4.674	0.125261|0.125261	0.08931|0.08931	.|.	.|.	ENSG00000175471|ENSG00000175471	ENST00000515393;ENST00000429576;ENST00000312216;ENST00000508509;ENST00000505208;ENST00000415885;ENST00000507214;ENST00000514780;ENST00000510732|ENST00000503301	T;T;T;T;T;T;T;T|.	0.66995|.	-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24|.	5.28|5.28	2.46|2.46	0.29980|0.29980	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);|.	0.154470|.	0.64402|.	D|.	0.000015|.	T|T	0.16599|0.16599	0.0399|0.0399	N|N	0.01128|0.01128	-1|-1	0.39061|0.39061	D|D	0.960536|0.960536	B;B;B|.	0.17667|.	0.023;0.004;0.001|.	B;B;B|.	0.23716|.	0.048;0.004;0.004|.	T|T	0.07177|0.07177	-1.0786|-1.0786	10|5	0.36615|.	T|.	0.2|.	-1.9885|-1.9885	8.7081|8.7081	0.34367|0.34367	0.0:0.5208:0.3459:0.1333|0.0:0.5208:0.3459:0.1333	.|.	314;93;93|.	Q6DN14;Q6DN14-3;Q6DN14-2|.	MCTP1_HUMAN;.;.|.	S|F	314;93;93;93;93;55;75;74;108|122	ENSP00000424126:C314S;ENSP00000391639:C93S;ENSP00000308957:C93S;ENSP00000423410:C93S;ENSP00000426438:C93S;ENSP00000424936:C75S;ENSP00000421543:C74S;ENSP00000422219:C108S|.	ENSP00000308957:C93S|.	C|L	-|-	2|3	0|2	MCTP1|MCTP1	94314719|94314719	0.989000|0.989000	0.36119|0.36119	0.563000|0.563000	0.28383|0.28383	0.959000|0.959000	0.62525|0.62525	0.774000|0.774000	0.26675|0.26675	0.292000|0.292000	0.22492|0.22492	0.460000|0.460000	0.39030|0.39030	TGT|TTG		0.368	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717		6	21	0	0	0	0	6	21				
RFESD	317671	broad.mit.edu	37	5	94989858	94989858	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr5:94989858A>T	ENST00000311364.4	+	3	1510	c.93A>T	c.(91-93)agA>agT	p.R31S	SPATA9_ENST00000477047.2_Intron|RFESD_ENST00000513950.2_Missense_Mutation_p.R31S|RFESD_ENST00000458310.1_Missense_Mutation_p.R84S|RFESD_ENST00000380005.4_Missense_Mutation_p.R84S	NM_173362.3	NP_775498.1	Q8TAC1	RFESD_HUMAN	Rieske (Fe-S) domain containing	31	Rieske 1. {ECO:0000255|PROSITE- ProRule:PRU00628}.|Rieske 2. {ECO:0000255|PROSITE- ProRule:PRU00628}.						2 iron, 2 sulfur cluster binding (GO:0051537)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			autonomic_ganglia(2)|endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	6		all_cancers(142;0.000215)|all_epithelial(76;7.43e-07)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)|Colorectal(57;0.162)		all cancers(79;5.94e-17)		AATCTGAAAGAATGACAGCTG	0.383																																						uc003klf.2		NA																	0					0						c.(91-93)AGA>AGT		Rieske (Fe-S) domain containing isoform 2							111.0	104.0	107.0					5																	94989858		2203	4300	6503	SO:0001583	missense	317671						2 iron, 2 sulfur cluster binding|metal ion binding|oxidoreductase activity	g.chr5:94989858A>T	BC035110	CCDS4075.1, CCDS47248.1	5q15	2010-12-07			ENSG00000175449	ENSG00000175449			29587	protein-coding gene	gene with protein product						12477932	Standard	NM_173362		Approved		uc003klg.3	Q8TAC1	OTTHUMG00000121168	ENST00000311364.4:c.93A>T	5.37:g.94989858A>T	ENSP00000309229:p.Arg31Ser					RFESD_uc003klg.2_Missense_Mutation_p.R84S|RFESD_uc011cun.1_Missense_Mutation_p.R84S|SPATA9_uc010jbh.1_Intron|SPATA9_uc003klh.1_Intron|SPATA9_uc003kli.1_Intron	p.R31S	NM_173362	NP_775498	Q8TAC1	RFESD_HUMAN		all cancers(79;5.94e-17)	3	1485	+		all_cancers(142;0.000215)|all_epithelial(76;7.43e-07)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)|Colorectal(57;0.162)	31			Rieske 2.|Rieske 1.		J3KPH1	Missense_Mutation	SNP	ENST00000311364.4	37	c.93A>T	CCDS4075.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.196358	0.78902	.	.	ENSG00000175449	ENST00000511684;ENST00000380005;ENST00000311364;ENST00000458310;ENST00000513950	.	.	.	5.58	1.89	0.25635	Rieske [2Fe-2S] iron-sulphur domain (4);	0.088882	0.85682	D	0.000000	T	0.62085	0.2399	M	0.62088	1.915	0.80722	D	1	D;D;D	0.65815	0.982;0.995;0.979	P;D;P	0.63488	0.832;0.915;0.852	T	0.63075	-0.6718	9	0.06757	T	0.87	-2.7538	8.4478	0.32852	0.7596:0.0:0.2404:0.0	.	31;31;31	D6RJG8;D6RBY0;Q8TAC1	.;.;RFESD_HUMAN	S	31;84;31;84;31	.	ENSP00000309229:R31S	R	+	3	2	RFESD	95015614	1.000000	0.71417	0.963000	0.40424	0.996000	0.88848	2.578000	0.46051	0.087000	0.17167	0.460000	0.39030	AGA		0.383	RFESD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241654.1	NM_173362		8	34	0	0	0	0	8	34				
PCDHB16	57717	broad.mit.edu	37	5	140567435	140567435	+	IGR	SNP	A	A	C	rs200278970		TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr5:140567435A>C	ENST00000361016.2	+	0	4814					NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16						calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCATATTAAAATTAGTGGCA	0.448																																						uc003liw.1		NA																	0					0						c.(541-543)AAA>AAC		protocadherin beta 9 precursor							144.0	159.0	154.0					5																	140567435		2203	4300	6503	SO:0001628	intergenic_variant	56127				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140567435A>C	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325		5.37:g.140567435A>C							p.K181N	NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	543	+			181			Extracellular (Potential).|Cadherin 2.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	c.543A>C	CCDS4251.1																																																																																				0.448	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		6	143	0	0	0	0	6	143				
PCDHGB2	56103	broad.mit.edu	37	5	140741362	140741362	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr5:140741362G>C	ENST00000522605.1	+	1	1660	c.1660G>C	c.(1660-1662)Gac>Cac	p.D554H	PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_5'Flank|PCDHGA4_ENST00000571252.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	554	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTAGTGGGCGACCTCAATGA	0.687																																						uc003ljs.1		NA																	0					0						c.(1660-1662)GAC>CAC		protocadherin gamma subfamily B, 2 isoform 1							34.0	42.0	39.0					5																	140741362		2112	4241	6353	SO:0001583	missense	56103				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140741362G>C	AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"""Cadherins / Protocadherins : Clustered"""	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.1660G>C	5.37:g.140741362G>C	ENSP00000429018:p.Asp554His					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGA5_uc003lju.1_5'Flank|PCDHGB2_uc011dar.1_Missense_Mutation_p.D554H|PCDHGA5_uc011das.1_5'Flank	p.D554H	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1660	+			554			Extracellular (Potential).|Cadherin 5.		Q3MIJ3|Q9UN65	Missense_Mutation	SNP	ENST00000522605.1	37	c.1660G>C	CCDS54924.1	.	.	.	.	.	.	.	.	.	.	.	15.52	2.857245	0.51376	.	.	ENSG00000253910	ENST00000522605	T	0.03035	4.07	5.11	4.24	0.50183	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.34483	0.0899	H	0.99590	4.645	0.34592	D	0.715636	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.70128	-0.4957	9	0.87932	D	0	.	13.3935	0.60836	0.0776:0.0:0.9224:0.0	.	554;554	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	H	554	ENSP00000429018:D554H	ENSP00000429018:D554H	D	+	1	0	PCDHGB2	140721546	1.000000	0.71417	1.000000	0.80357	0.408000	0.30992	9.671000	0.98627	1.276000	0.44395	0.460000	0.39030	GAC		0.687	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923		41	58	0	0	0	0	41	58				
PCDHGC4	56098	broad.mit.edu	37	5	140866933	140866933	+	Silent	SNP	T	T	C			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr5:140866933T>C	ENST00000306593.1	+	1	2193	c.2193T>C	c.(2191-2193)tgT>tgC	p.C731C	PCDHGA11_ENST00000398587.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGC5_ENST00000252087.1_5'Flank|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	731					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGCACCTGTGCCTGTCTCA	0.537																																						uc003lky.1		NA																	0				ovary(4)	4						c.(2191-2193)TGT>TGC		protocadherin gamma subfamily C, 4 isoform 1							97.0	80.0	85.0					5																	140866933		2203	4300	6503	SO:0001819	synonymous_variant	56098				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140866933T>C	AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"""Cadherins / Protocadherins : Clustered"""	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.2193T>C	5.37:g.140866933T>C						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc011dbb.1_Silent_p.C731C|PCDHGC5_uc011dbc.1_5'Flank|PCDHGC5_uc003lla.1_5'Flank	p.C731C	NM_018928	NP_061751	Q9Y5F7	PCDGL_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2193	+			731			Cytoplasmic (Potential).		Q495T2|Q9Y5C3	Silent	SNP	ENST00000306593.1	37	c.2193T>C	CCDS4262.1																																																																																				0.537	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251820.1	NM_018928		8	61	0	0	0	0	8	61				
ARAP3	64411	broad.mit.edu	37	5	141033932	141033932	+	Missense_Mutation	SNP	A	A	G	rs142227089		TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr5:141033932A>G	ENST00000239440.4	-	33	4285	c.4220T>C	c.(4219-4221)gTg>gCg	p.V1407A	FCHSD1_ENST00000435817.2_5'Flank|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Missense_Mutation_p.V1238A|FCHSD1_ENST00000522783.1_5'Flank|FCHSD1_ENST00000519800.1_5'Flank|ARAP3_ENST00000513878.1_Missense_Mutation_p.V1056A	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1407					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TTCCTCATACACTGGCTCCTC	0.582																																						uc003llm.2		NA																	0				breast(5)|ovary(1)|large_intestine(1)	7						c.(4219-4221)GTG>GCG		ArfGAP with RhoGAP domain, ankyrin repeat and PH							106.0	105.0	105.0					5																	141033932		2203	4300	6503	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141033932A>G	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.4220T>C	5.37:g.141033932A>G	ENSP00000239440:p.Val1407Ala					ARAP3_uc003lll.2_Missense_Mutation_p.V358A|ARAP3_uc011dbe.1_Missense_Mutation_p.V1056A|ARAP3_uc003lln.2_Missense_Mutation_p.V1238A	p.V1407A	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN			33	4298	-			1407					B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.4220T>C	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	A	14.94	2.684188	0.47991	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.47869	0.83;0.83;0.83	4.87	4.87	0.63330	.	0.083664	0.49916	D	0.000132	T	0.56455	0.1986	L	0.29908	0.895	0.40083	D	0.976159	D;D;D	0.61697	0.984;0.99;0.984	D;D;D	0.73380	0.956;0.98;0.956	T	0.62115	-0.6922	10	0.72032	D	0.01	.	14.3004	0.66346	1.0:0.0:0.0:0.0	.	1056;1238;1407	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	A	1238;1407;1056	ENSP00000421826:V1238A;ENSP00000239440:V1407A;ENSP00000421468:V1056A	ENSP00000239440:V1407A	V	-	2	0	ARAP3	141014116	0.999000	0.42202	0.937000	0.37676	0.466000	0.32739	6.614000	0.74197	2.021000	0.59480	0.533000	0.62120	GTG		0.582	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		10	91	0	0	0	0	10	91				
SERPINB6	5269	broad.mit.edu	37	6	2948568	2948568	+	Missense_Mutation	SNP	G	G	T	rs145397970	byFrequency	TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr6:2948568G>T	ENST00000380520.1	-	6	3089	c.1095C>A	c.(1093-1095)aaC>aaA	p.N365K	SERPINB6_ENST00000380524.1_Missense_Mutation_p.N365K|SERPINB6_ENST00000380529.1_Missense_Mutation_p.N365K|SERPINB6_ENST00000380539.1_Missense_Mutation_p.N365K|SERPINB6_ENST00000380546.3_Missense_Mutation_p.N365K|SERPINB6_ENST00000335686.5_Missense_Mutation_p.N365K			P35237	SPB6_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 6	365					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	AGAGAATCCCGTTGGTCTTGC	0.602																																						uc003muk.2		NA																	0					0						c.(1093-1095)AAC>AAA		serine (or cysteine) proteinase inhibitor, clade	Drotrecogin alfa(DB00055)						53.0	55.0	55.0					6																	2948568		2203	4300	6503	SO:0001583	missense	5269				regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity	g.chr6:2948568G>T	Z22658	CCDS4479.1, CCDS75386.1, CCDS75387.1	6p25.2	2014-02-18	2005-08-18		ENSG00000124570	ENSG00000124570		"""Serine (or cysteine) peptidase inhibitors"""	8950	protein-coding gene	gene with protein product	"""cytoplasmic antiproteinase"""	173321	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 6"", ""deafness, autosomal recessive 91"""	PI6, DFNB91		8415716, 9858835, 20451170, 24172014	Standard	NM_004568		Approved	PTI, CAP	uc031smo.1	P35237	OTTHUMG00000016170	ENST00000380520.1:c.1095C>A	6.37:g.2948568G>T	ENSP00000369891:p.Asn365Lys					SERPINB6_uc003mui.2_Missense_Mutation_p.N248K|SERPINB6_uc003muj.2_RNA|SERPINB6_uc003mul.2_Missense_Mutation_p.N365K|SERPINB6_uc003mum.2_Missense_Mutation_p.N365K|SERPINB6_uc003mun.2_Missense_Mutation_p.N365K|SERPINB6_uc003muo.2_Missense_Mutation_p.N365K	p.N365K	NM_004568	NP_004559	P35237	SPB6_HUMAN			6	3090	-	Ovarian(93;0.0412)	all_hematologic(90;0.0895)	365					B2RBA8|Q59F97|Q5TD06|Q7Z2Y7|Q96J44|Q9UDI7	Missense_Mutation	SNP	ENST00000380520.1	37	c.1095C>A	CCDS4479.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.29|11.29	1.594003|1.594003	0.28445|0.28445	.|.	.|.	ENSG00000124570|ENSG00000124570	ENST00000380524;ENST00000380520;ENST00000335686;ENST00000380529;ENST00000380539;ENST00000380546;ENST00000440670|ENST00000380500	D;D;D;D;D;D|.	0.82803|.	-1.65;-1.65;-1.65;-1.65;-1.65;-1.65|.	5.01|5.01	-10.0|-10.0	0.00425|0.00425	Serpin domain (3);|.	1.185740|.	0.05767|.	N|.	0.606046|.	T|T	0.04952|0.04952	0.0133|0.0133	N|N	0.20845|0.20845	0.615|0.615	0.09310|0.09310	N|N	1|1	B|.	0.14438|.	0.01|.	B|.	0.27380|.	0.079|.	T|T	0.12167|0.12167	-1.0558|-1.0558	10|5	0.16420|.	T|.	0.52|.	.|.	4.357|4.357	0.11183|0.11183	0.3594:0.4057:0.0949:0.14|0.3594:0.4057:0.0949:0.14	.|.	365|.	P35237|.	SPB6_HUMAN|.	K|K	365;365;365;365;365;365;181|170	ENSP00000369896:N365K;ENSP00000369891:N365K;ENSP00000338358:N365K;ENSP00000369901:N365K;ENSP00000369912:N365K;ENSP00000369919:N365K|.	ENSP00000338358:N365K|.	N|T	-|-	3|2	2|0	SERPINB6|SERPINB6	2893567|2893567	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.207000|0.207000	0.24258|0.24258	-7.499000|-7.499000	0.00035|0.00035	-2.564000|-2.564000	0.00472|0.00472	0.551000|0.551000	0.68910|0.68910	AAC|ACG		0.602	SERPINB6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043422.1			34	36	1	0	5.97e-30	8.36e-30	34	36				
HIST1H3D	8351	broad.mit.edu	37	6	26197234	26197234	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr6:26197234T>A	ENST00000356476.2	-	1	244	c.245A>T	c.(244-246)gAt>gTt	p.D82V	HIST1H2BF_ENST00000359985.1_5'Flank|HIST1H3D_ENST00000377831.5_Missense_Mutation_p.D82V			P68431	H31_HUMAN	histone cluster 1, H3d	82					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				AAAACGCAGATCAGTCTTGAA	0.607																																					GBM(108;3816 4467)	uc003ngv.2		NA																	0					0						c.(244-246)GAT>GTT		histone cluster 1, H3d							78.0	74.0	76.0					6																	26197234		2203	4300	6503	SO:0001583	missense	8351				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26197234T>A	Z80784	CCDS4590.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197409	ENSG00000197409		"""Histones / Replication-dependent"""	4767	protein-coding gene	gene with protein product		602811	"""H3 histone family, member B"", ""histone 1, H3d"""	H3FB		9119399, 12408966	Standard	NM_003530		Approved	H3/b	uc003ngv.4	P68431	OTTHUMG00000014433	ENST00000356476.2:c.245A>T	6.37:g.26197234T>A	ENSP00000366999:p.Asp82Val					HIST1H2BF_uc003ngx.2_5'Flank	p.D82V	NM_003530	NP_003521	P68431	H31_HUMAN			2	642	-		all_hematologic(11;0.196)	82					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000356476.2	37	c.245A>T	CCDS4590.1	.	.	.	.	.	.	.	.	.	.	.	12.70	2.015459	0.35511	.	.	ENSG00000197409	ENST00000356476;ENST00000377831	T;T	0.47869	0.83;0.83	4.39	3.19	0.36642	.	.	.	.	.	T	0.46889	0.1416	.	.	.	0.50313	D	0.999866	.	.	.	.	.	.	T	0.51965	-0.8638	6	0.87932	D	0	.	10.5133	0.44874	0.0:0.0:0.1632:0.8368	.	.	.	.	V	82	ENSP00000366999:D82V;ENSP00000367062:D82V	ENSP00000366999:D82V	D	-	2	0	HIST1H3D	26305213	1.000000	0.71417	0.996000	0.52242	0.099000	0.18886	7.639000	0.83342	0.629000	0.30376	0.533000	0.62120	GAT		0.607	HIST1H3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040096.1	NM_003530		18	88	0	0	0	0	18	88				
HIST1H3G	8355	broad.mit.edu	37	6	26271403	26271403	+	Silent	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr6:26271403G>A	ENST00000305910.3	-	1	209	c.210C>T	c.(208-210)cgC>cgT	p.R70R	HIST1H2BI_ENST00000377733.2_5'Flank	NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	70				R -> C (in Ref. 13; AAH67493). {ECO:0000305}.	blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						CTCGCACCAGGCGTTGGAAAG	0.602																																						uc003nhi.2		NA																	0					0						c.(208-210)CGC>CGT		H3 histone family, member H							79.0	81.0	80.0					6																	26271403		2203	4300	6503	SO:0001819	synonymous_variant	8355				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26271403G>A	Z80785	CCDS4602.1	6p22.1	2011-07-22	2006-10-11	2003-03-14	ENSG00000256018			"""Histones / Replication-dependent"""	4772	protein-coding gene	gene with protein product		602815	"""H3 histone family, member H"", ""histone 1, H3g"""	H3FH		9119399, 12408966	Standard	NM_003534		Approved	H3/h	uc003nhi.3	P68431	OTTHUMG00000014436	ENST00000305910.3:c.210C>T	6.37:g.26271403G>A						uc003nhj.2_5'Flank|HIST1H2BI_uc003nhk.2_5'Flank	p.R70R	NM_003534	NP_003525	P68431	H31_HUMAN			1	210	-			70	R -> C (in Ref. 13; AAH67493).				A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	ENST00000305910.3	37	c.210C>T	CCDS4602.1																																																																																				0.602	HIST1H3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040099.2	NM_003534		12	138	0	0	0	0	12	138				
OR10C1	442194	broad.mit.edu	37	6	29407954	29407954	+	Silent	SNP	C	C	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr6:29407954C>A	ENST00000444197.2	+	1	872	c.162C>A	c.(160-162)ctC>ctA	p.L54L	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	54						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(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ATGCTGCCCTCCAGTCCCCTA	0.562																																						uc011dlp.1		NA																	0					0						c.(160-162)CTC>CTA		olfactory receptor, family 10, subfamily C,							194.0	164.0	175.0					6																	29407954		1511	2708	4219	SO:0001819	synonymous_variant	442194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29407954C>A		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"""GPCR / Class A : Olfactory receptors"""	8165	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily C, member 2"", ""olfactory receptor, family 10, subfamily C, member 1"""	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.162C>A	6.37:g.29407954C>A						OR11A1_uc010jrh.1_Intron	p.L54L	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN			1	162	+			54			Helical; Name=2; (Potential).		Q5SUN7|Q96R18	Silent	SNP	ENST00000444197.2	37	c.162C>A	CCDS34364.1																																																																																				0.562	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2			54	92	1	0	5.57e-27	7.77e-27	54	92				
VARS	7407	broad.mit.edu	37	6	31752467	31752467	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr6:31752467C>A	ENST00000375663.3	-	11	1812	c.1372G>T	c.(1372-1374)Gcc>Tcc	p.A458S	VARS_ENST00000444930.2_Missense_Mutation_p.A163S|VARS_ENST00000482996.1_5'Flank	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	458					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CGGACAAAGGCCTCTGTCACA	0.592																																						uc003nxe.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(1372-1374)GCC>TCC		valyl-tRNA synthetase	L-Valine(DB00161)						91.0	83.0	86.0					6																	31752467		1511	2709	4220	SO:0001583	missense	7407				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	g.chr6:31752467C>A	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	12651	protein-coding gene	gene with protein product	"""valine tRNA ligase 1, cytoplasmic"""	192150	"""valyl-tRNA synthetase 2"""	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.1372G>T	6.37:g.31752467C>A	ENSP00000364815:p.Ala458Ser					VARS_uc011doi.1_RNA	p.A458S	NM_006295	NP_006286	P26640	SYVC_HUMAN			11	1795	-			458					B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Missense_Mutation	SNP	ENST00000375663.3	37	c.1372G>T	CCDS34412.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.782136	0.90282	.	.	ENSG00000204394	ENST00000375663;ENST00000444930	T;T	0.37915	1.17;1.17	5.55	5.55	0.83447	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.056891	0.64402	D	0.000002	T	0.50086	0.1595	M	0.78456	2.415	0.58432	D	0.999999	P	0.52692	0.955	P	0.57283	0.817	T	0.53486	-0.8432	10	0.62326	D	0.03	-9.4094	17.0061	0.86393	0.0:1.0:0.0:0.0	.	458	P26640	SYVC_HUMAN	S	458;163	ENSP00000364815:A458S;ENSP00000398317:A163S	ENSP00000364815:A458S	A	-	1	0	VARS	31860446	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.062000	0.76706	2.597000	0.87782	0.655000	0.94253	GCC		0.592	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		24	53	1	0	4.48e-21	6.1e-21	24	53				
DXO	1797	broad.mit.edu	37	6	31938542	31938542	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr6:31938542G>A	ENST00000375349.3	-	4	1064	c.653C>T	c.(652-654)tCt>tTt	p.S218F	DXO_ENST00000375356.3_Missense_Mutation_p.S218F|DXO_ENST00000478221.1_Intron|STK19_ENST00000375333.2_5'Flank|DXO_ENST00000337523.5_Missense_Mutation_p.S218F|STK19_ENST00000375331.2_5'Flank			O77932	DXO_HUMAN	decapping exoribonuclease	218					metabolic process (GO:0008152)|mRNA catabolic process (GO:0006402)|nuclear mRNA surveillance (GO:0071028)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA destabilization (GO:0050779)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|magnesium ion binding (GO:0000287)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA pyrophosphohydrolase activity (GO:0034353)										GCGTAGCACAGAGCAGAAGGC	0.622																																						uc003nyo.1		NA																	0					0						c.(652-654)TCT>TTT		DOM-3 homolog Z							36.0	40.0	39.0					6																	31938542		1511	2708	4219	SO:0001583	missense	1797						identical protein binding|metal ion binding|nucleotide binding	g.chr6:31938542G>A	AF059252	CCDS4732.1	6p21.3	2013-09-11	2013-09-11	2013-09-11	ENSG00000204348	ENSG00000204348			2992	protein-coding gene	gene with protein product		605996	"""DOM-3 (C. elegans) homolog Z"", ""dom-3 homolog Z (C. elegans)"""	DOM3Z		9799600, 23523372	Standard	NM_005510		Approved		uc003nyp.1	O77932	OTTHUMG00000031272	ENST00000375349.3:c.653C>T	6.37:g.31938542G>A	ENSP00000364498:p.Ser218Phe					DOM3Z_uc003nyp.1_Missense_Mutation_p.S218F|DOM3Z_uc003nyq.1_Intron|DOM3Z_uc003nyr.1_Missense_Mutation_p.S218F|DOM3Z_uc003nys.1_3'UTR|DOM3Z_uc010jtl.1_3'UTR|STK19_uc003nyt.2_5'Flank|STK19_uc011dow.1_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.2_5'Flank|STK19_uc003nyw.2_5'Flank|STK19_uc010jtn.1_5'Flank	p.S218F	NM_005510	NP_005501	O77932	DOM3Z_HUMAN			3	1187	-			218					A2CER3|B0UZ80|O15004|O78127|O78128|Q5ST60|Q6IPZ2|Q9NPK4	Missense_Mutation	SNP	ENST00000375349.3	37	c.653C>T	CCDS4732.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.884173	0.72410	.	.	ENSG00000204348	ENST00000337523;ENST00000375349;ENST00000375356	T;T;T	0.24350	1.86;1.86;1.86	4.84	4.84	0.62591	.	0.176226	0.48286	D	0.000186	T	0.27629	0.0679	L	0.39898	1.24	0.44579	D	0.997543	D	0.89917	1.0	D	0.64506	0.926	T	0.00972	-1.1495	10	0.39692	T	0.17	-18.1419	12.7066	0.57063	0.0:0.1663:0.8337:0.0	.	218	O77932	DOM3Z_HUMAN	F	218	ENSP00000337759:S218F;ENSP00000364498:S218F;ENSP00000364505:S218F	ENSP00000337759:S218F	S	-	2	0	DOM3Z	32046521	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.870000	0.75526	2.516000	0.84829	0.561000	0.74099	TCT		0.622	DXO-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076592.3			6	42	0	0	0	0	6	42				
PM20D2	135293	broad.mit.edu	37	6	89862895	89862895	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr6:89862895A>T	ENST00000275072.4	+	3	843	c.748A>T	c.(748-750)Aga>Tga	p.R250*		NM_001010853.1	NP_001010853.1	Q8IYS1	P20D2_HUMAN	peptidase M20 domain containing 2	250						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		ACCAACCTGGAGAGTTCATGG	0.353																																						uc003pmz.2		NA																	0					0						c.(748-750)AGA>TGA		aminoacylase 1-like 2							92.0	85.0	87.0					6																	89862895		2203	4300	6503	SO:0001587	stop_gained	135293						hydrolase activity	g.chr6:89862895A>T	BC035036	CCDS34499.1	6q15	2014-07-14	2007-11-14	2007-11-14	ENSG00000146281	ENSG00000146281			21408	protein-coding gene	gene with protein product	"""&#946;-alanyl-lysine dipeptidase"""	615913	"""aminoacylase 1-like 2"""	ACY1L2		24891507	Standard	NM_001010853		Approved	bA63L7.3	uc003pmz.4	Q8IYS1	OTTHUMG00000015193	ENST00000275072.4:c.748A>T	6.37:g.89862895A>T	ENSP00000275072:p.Arg250*						p.R250*	NM_001010853	NP_001010853	Q8IYS1	P20D2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00813)	3	843	+		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)	250					B4DYJ2|Q5T7J9|Q6MZV2|Q86XD9	Nonsense_Mutation	SNP	ENST00000275072.4	37	c.748A>T	CCDS34499.1	.	.	.	.	.	.	.	.	.	.	A	38	6.852802	0.97885	.	.	ENSG00000146281	ENST00000275072	.	.	.	5.57	4.38	0.52667	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.8343	12.5672	0.56316	0.861:0.139:0.0:0.0	.	.	.	.	X	250	.	ENSP00000275072:R250X	R	+	1	2	PM20D2	89919614	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.585000	0.74062	0.898000	0.36418	0.533000	0.62120	AGA		0.353	PM20D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041477.1	NM_001010853		18	29	0	0	0	0	18	29				
EPHA7	2045	broad.mit.edu	37	6	94068039	94068039	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr6:94068039G>T	ENST00000369303.4	-	4	1107	c.923C>A	c.(922-924)tCc>tAc	p.S308Y		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	308	Cys-rich.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)	p.S308Y(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TTCACATCTGGAGGAGCCTTC	0.463																																						uc003poe.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28						c.(922-924)TCC>TAC		ephrin receptor EphA7 precursor							114.0	105.0	108.0					6																	94068039		2203	4300	6503	SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:94068039G>T	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.923C>A	6.37:g.94068039G>T	ENSP00000358309:p.Ser308Tyr					EPHA7_uc003pof.2_Missense_Mutation_p.S308Y|EPHA7_uc011eac.1_Missense_Mutation_p.S308Y	p.S308Y	NM_004440	NP_004431	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	4	1164	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	308			Extracellular (Potential).|Cys-rich.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.923C>A	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.240205	0.58995	.	.	ENSG00000135333	ENST00000369303	T	0.29397	1.57	5.62	5.62	0.85841	Tyrosine-protein kinase ephrin type A/B receptor-like (1);Growth factor, receptor (1);	0.371469	0.28431	N	0.015377	T	0.22244	0.0536	L	0.52126	1.63	0.80722	D	1	B;B;B	0.29909	0.078;0.261;0.086	B;B;B	0.28011	0.027;0.071;0.085	T	0.04664	-1.0935	10	0.66056	D	0.02	.	19.6472	0.95784	0.0:0.0:1.0:0.0	.	308;308;308	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	Y	308	ENSP00000358309:S308Y	ENSP00000358309:S308Y	S	-	2	0	EPHA7	94124760	1.000000	0.71417	0.987000	0.45799	0.991000	0.79684	7.324000	0.79115	2.652000	0.90054	0.655000	0.94253	TCC		0.463	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			43	41	1	0	3.71e-28	5.17e-28	43	41				
WASF1	8936	broad.mit.edu	37	6	110421760	110421760	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr6:110421760C>T	ENST00000392589.1	-	11	2481	c.1645G>A	c.(1645-1647)Gat>Aat	p.D549N	WASF1_ENST00000392588.1_Missense_Mutation_p.D549N|WASF1_ENST00000359451.2_Missense_Mutation_p.D549N|WASF1_ENST00000392587.2_Missense_Mutation_p.D549N|WASF1_ENST00000392586.1_Missense_Mutation_p.D549N	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	549					actin filament polymerization (GO:0030041)|cellular component movement (GO:0006928)|lamellipodium morphogenesis (GO:0072673)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|Rac protein signal transduction (GO:0016601)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|lamellipodium (GO:0030027)|mitochondrial outer membrane (GO:0005741)|SCAR complex (GO:0031209)|synapse (GO:0045202)	protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		AATTCTGAATCATCTTCCGAA	0.393																																						uc003ptv.1		NA																	0					0						c.(1645-1647)GAT>AAT		Wiskott-Aldrich syndrome protein family member							149.0	130.0	136.0					6																	110421760		2203	4300	6503	SO:0001583	missense	8936				actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding	g.chr6:110421760C>T	D87459	CCDS5080.1	6q21	2010-08-20			ENSG00000112290	ENSG00000112290		"""A-kinase anchor proteins"""	12732	protein-coding gene	gene with protein product		605035				9843499, 9889097	Standard	XM_005267204		Approved	WAVE1, SCAR1, KIAA0269, WAVE	uc003pty.1	Q92558	OTTHUMG00000015357	ENST00000392589.1:c.1645G>A	6.37:g.110421760C>T	ENSP00000376368:p.Asp549Asn					WASF1_uc003ptw.1_Missense_Mutation_p.D549N|WASF1_uc003ptx.1_Missense_Mutation_p.D549N|WASF1_uc003pty.1_Missense_Mutation_p.D549N	p.D549N	NM_003931	NP_003922	Q92558	WASF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)	11	2482	-		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)	549					E1P5F2|Q5SZK7	Missense_Mutation	SNP	ENST00000392589.1	37	c.1645G>A	CCDS5080.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.550973	0.86127	.	.	ENSG00000112290	ENST00000392586;ENST00000392587;ENST00000392589;ENST00000392588;ENST00000359451	T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08	5.6	5.6	0.85130	.	0.141769	0.64402	D	0.000007	T	0.47544	0.1451	L	0.43923	1.385	0.58432	D	0.999996	P	0.37781	0.608	B	0.35413	0.202	T	0.57423	-0.7814	10	0.72032	D	0.01	.	19.6017	0.95566	0.0:1.0:0.0:0.0	.	549	Q92558	WASF1_HUMAN	N	549	ENSP00000376365:D549N;ENSP00000376366:D549N;ENSP00000376368:D549N;ENSP00000376367:D549N;ENSP00000352425:D549N	ENSP00000352425:D549N	D	-	1	0	WASF1	110528453	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.382000	0.79729	2.622000	0.88805	0.655000	0.94253	GAT		0.393	WASF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041784.3	NM_003931		11	22	0	0	0	0	11	22				
PTPRK	5796	broad.mit.edu	37	6	128304088	128304088	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr6:128304088G>A	ENST00000368215.3	-	24	3421	c.3422C>T	c.(3421-3423)gCc>gTc	p.A1141V	PTPRK_ENST00000368210.3_Missense_Mutation_p.A1160V|PTPRK_ENST00000368207.3_Missense_Mutation_p.A1174V|PTPRK_ENST00000368213.5_Missense_Mutation_p.A1148V|PTPRK_ENST00000368226.4_Missense_Mutation_p.A1142V|PTPRK_ENST00000532331.1_Missense_Mutation_p.A1164V|PTPRK_ENST00000368227.3_Missense_Mutation_p.A1159V			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1141	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ACATAAGCAGGCTTCTAAAAT	0.333																																						uc003qbk.2		NA																	0				ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8						c.(3421-3423)GCC>GTC		protein tyrosine phosphatase, receptor type, K							91.0	96.0	94.0					6																	128304088		2203	4300	6503	SO:0001583	missense	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128304088G>A	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.3422C>T	6.37:g.128304088G>A	ENSP00000357198:p.Ala1141Val					PTPRK_uc003qbj.2_Missense_Mutation_p.A1142V|PTPRK_uc010kfc.2_Missense_Mutation_p.A1148V|PTPRK_uc011ebu.1_Missense_Mutation_p.A1164V	p.A1141V	NM_002844	NP_002835	Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	24	3789	-			1141			Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37	c.3422C>T		.	.	.	.	.	.	.	.	.	.	G	34	5.403006	0.96030	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207	T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56	5.78	5.78	0.91487	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.000000	0.85682	D	0.000000	T	0.58764	0.2145	M	0.86805	2.84	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.83275	0.983;0.996;0.982;0.992	T	0.64888	-0.6301	10	0.87932	D	0	.	19.9972	0.97387	0.0:0.0:1.0:0.0	.	1164;1148;1141;1142	B7ZMG0;Q15262-3;Q15262;Q15262-2	.;.;PTPRK_HUMAN;.	V	1142;1159;1164;1148;1160;1141;1174	ENSP00000357209:A1142V;ENSP00000357210:A1159V;ENSP00000432973:A1164V;ENSP00000357196:A1148V;ENSP00000357193:A1160V;ENSP00000357198:A1141V;ENSP00000357190:A1174V	ENSP00000357190:A1174V	A	-	2	0	PTPRK	128345781	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.733000	0.93635	0.585000	0.79938	GCC		0.333	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			8	68	0	0	0	0	8	68				
GRM1	2911	broad.mit.edu	37	6	146720389	146720389	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr6:146720389T>A	ENST00000282753.1	+	7	2449	c.2214T>A	c.(2212-2214)agT>agA	p.S738R	GRM1_ENST00000392299.2_Missense_Mutation_p.S738R|GRM1_ENST00000355289.4_Missense_Mutation_p.S738R|GRM1_ENST00000492807.2_Missense_Mutation_p.S738R|GRM1_ENST00000507907.1_Missense_Mutation_p.S738R|GRM1_ENST00000361719.2_Missense_Mutation_p.S738R			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	738					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CCTACCCAAGTATCAAGGAAG	0.493																																						uc010khw.1		NA																	0				lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19						c.(2212-2214)AGT>AGA		glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						124.0	121.0	122.0					6																	146720389		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146720389T>A	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2214T>A	6.37:g.146720389T>A	ENSP00000282753:p.Ser738Arg					GRM1_uc010khv.1_Missense_Mutation_p.S738R|GRM1_uc003qll.2_Missense_Mutation_p.S738R|GRM1_uc011edz.1_Missense_Mutation_p.S738R|GRM1_uc011eea.1_Missense_Mutation_p.S738R	p.S738R	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	8	2684	+		Ovarian(120;0.0387)	738			Extracellular (Potential).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.2214T>A	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	T	15.77	2.930249	0.52866	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32;-2.32	5.37	-1.78	0.07957	GPCR, family 3, C-terminal (2);	0.035444	0.85682	D	0.000000	D	0.87176	0.6112	L	0.52573	1.65	0.58432	D	0.999992	P;D;D	0.89917	0.86;1.0;0.981	P;D;P	0.91635	0.561;0.999;0.872	D	0.85899	0.1433	10	0.46703	T	0.11	.	15.9683	0.79991	0.0:0.8339:0.0:0.1661	.	738;738;738	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	R	738	ENSP00000354896:S738R;ENSP00000376119:S738R;ENSP00000424095:S738R;ENSP00000282753:S738R;ENSP00000347437:S738R;ENSP00000425599:S738R	ENSP00000282753:S738R	S	+	3	2	GRM1	146762082	1.000000	0.71417	0.982000	0.44146	0.998000	0.95712	2.703000	0.47110	-0.627000	0.05589	0.477000	0.44152	AGT		0.493	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		46	70	0	0	0	0	46	70				
LRP11	84918	broad.mit.edu	37	6	150184555	150184555	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr6:150184555G>A	ENST00000239367.2	-	1	607	c.602C>T	c.(601-603)tCg>tTg	p.S201L	LRP11_ENST00000367368.2_Missense_Mutation_p.S201L|LRP11_ENST00000546019.1_Intron|RP11-244K5.8_ENST00000596229.1_RNA|RP11-244K5.8_ENST00000606915.1_RNA	NM_032832.5	NP_116221.3	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein 11	201						integral component of membrane (GO:0016021)				cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		CTgccggggcgaggcgcgcgc	0.736																																						uc003qng.2		NA																	0					0						c.(601-603)TCG>TTG		low density lipoprotein receptor-related protein							5.0	6.0	5.0					6																	150184555		966	2189	3155	SO:0001583	missense	84918					integral to membrane	receptor activity	g.chr6:150184555G>A	AK027641	CCDS5220.1	6q24.3	2013-02-27			ENSG00000120256	ENSG00000120256		"""Low density lipoprotein receptors"""	16936	protein-coding gene	gene with protein product							Standard	NM_032832		Approved	bA350J20.3, MANSC3	uc003qng.2	Q86VZ4	OTTHUMG00000015801	ENST00000239367.2:c.602C>T	6.37:g.150184555G>A	ENSP00000239367:p.Ser201Leu					uc003qni.1_5'Flank|LRP11_uc003qnh.1_Missense_Mutation_p.S201L	p.S201L	NM_032832	NP_116221	Q86VZ4	LRP11_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)	1	926	-		Ovarian(120;0.0907)	201			Extracellular (Potential).		Q5VYC0|Q96SN6	Missense_Mutation	SNP	ENST00000239367.2	37	c.602C>T	CCDS5220.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.783811	0.31593	.	.	ENSG00000120256	ENST00000239367;ENST00000367368	T;T	0.10668	3.56;2.85	4.93	-6.97	0.01616	.	2.522380	0.01174	N	0.006927	T	0.01061	0.0035	L	0.29908	0.895	0.09310	N	0.999996	P;B	0.35628	0.513;0.008	B;B	0.15052	0.012;0.001	T	0.44421	-0.9329	10	0.11182	T	0.66	8.166	1.1875	0.01858	0.1892:0.2618:0.1411:0.4078	.	201;201	Q5VYB9;Q86VZ4	.;LRP11_HUMAN	L	201	ENSP00000239367:S201L;ENSP00000356338:S201L	ENSP00000239367:S201L	S	-	2	0	LRP11	150226248	0.072000	0.21174	0.000000	0.03702	0.004000	0.04260	1.050000	0.30404	-1.036000	0.03287	-0.979000	0.02580	TCG		0.736	LRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042664.1	NM_032832		8	15	0	0	0	0	8	15				
MTHFD1L	25902	broad.mit.edu	37	6	151239718	151239718	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr6:151239718G>A	ENST00000367321.3	+	9	1172	c.898G>A	c.(898-900)Gtt>Att	p.V300I		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	300	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		TACAGGGAAGGTTGGGTGTGG	0.413																																						uc003qob.2		NA																	0				ovary(3)|large_intestine(1)	4						c.(898-900)GTT>ATT		methylenetetrahydrofolate dehydrogenase (NADP+							183.0	183.0	183.0					6																	151239718		2203	4300	6503	SO:0001583	missense	25902				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity	g.chr6:151239718G>A	BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"""10-formyl-THF synthetase"", ""mitochondrial C1-tetrahydrofolate synthase"", ""monofunctional C1-tetrahydrofolate synthase, mitochondrial"""	611427	"""formyltetrahydrofolate synthetase domain containing 1"""	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.898G>A	6.37:g.151239718G>A	ENSP00000356290:p.Val300Ile					MTHFD1L_uc011een.1_RNA|MTHFD1L_uc011eeo.1_Missense_Mutation_p.V301I|MTHFD1L_uc003qoc.2_Missense_Mutation_p.V248I	p.V300I	NM_015440	NP_056255	Q6UB35	C1TM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)	9	1166	+		Ovarian(120;0.128)	300			Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.		Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Missense_Mutation	SNP	ENST00000367321.3	37	c.898G>A	CCDS5228.1	.	.	.	.	.	.	.	.	.	.	G	2.647	-0.282843	0.05642	.	.	ENSG00000120254	ENST00000367321	T	0.11495	2.77	5.36	1.6	0.23607	.	0.602094	0.12626	N	0.452646	T	0.01661	0.0053	N	0.08118	0	0.09310	N	0.999997	B;B;B	0.12013	0.005;0.002;0.005	B;B;B	0.19148	0.014;0.024;0.014	T	0.46582	-0.9181	10	0.72032	D	0.01	.	6.5361	0.22355	0.0:0.513:0.3214:0.1656	.	301;55;300	B7ZM99;B2RD24;Q6UB35	.;.;C1TM_HUMAN	I	300	ENSP00000356290:V300I	ENSP00000356290:V300I	V	+	1	0	MTHFD1L	151281411	0.962000	0.33011	0.059000	0.19551	0.041000	0.13682	1.709000	0.37909	0.006000	0.14734	0.655000	0.94253	GTT		0.413	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	NM_015440		28	42	0	0	0	0	28	42				
C6orf118	168090	broad.mit.edu	37	6	165715503	165715503	+	Missense_Mutation	SNP	G	G	T	rs149637046	byFrequency	TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr6:165715503G>T	ENST00000230301.8	-	2	328	c.308C>A	c.(307-309)gCg>gAg	p.A103E	C6orf118_ENST00000543069.1_5'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	103										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CTTCATCCTCGCCACCTTCCC	0.682																																						uc003qum.3		NA																	0					0						c.(307-309)GCG>GAG		hypothetical protein LOC168090							61.0	65.0	64.0					6																	165715503		2203	4300	6503	SO:0001583	missense	168090							g.chr6:165715503G>T		CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.308C>A	6.37:g.165715503G>T	ENSP00000230301:p.Ala103Glu					C6orf118_uc011egi.1_RNA	p.A103E	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)	2	344	-		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)	103					Q8TC11	Missense_Mutation	SNP	ENST00000230301.8	37	c.308C>A	CCDS5288.1	.	.	.	.	.	.	.	.	.	.	G	4.094	0.015422	0.07959	.	.	ENSG00000112539	ENST00000230301	T	0.12039	2.72	5.31	-0.284	0.12870	.	1.611550	0.03200	N	0.174686	T	0.02610	0.0079	N	0.19112	0.55	0.09310	N	0.999999	B	0.25521	0.128	B	0.26094	0.066	T	0.41324	-0.9515	10	0.31617	T	0.26	.	5.3731	0.16150	0.0723:0.1041:0.4543:0.3693	.	103	Q5T5N4	CF118_HUMAN	E	103	ENSP00000230301:A103E	ENSP00000230301:A103E	A	-	2	0	C6orf118	165635493	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.564000	0.23563	-0.305000	0.08831	-0.797000	0.03246	GCG		0.682	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980		43	49	1	0	6.24e-21	8.48e-21	43	49				
PDE10A	10846	broad.mit.edu	37	6	165848755	165848755	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr6:165848755C>A	ENST00000366882.1	-	7	631	c.477G>T	c.(475-477)agG>agT	p.R159S	PDE10A_ENST00000539869.2_Missense_Mutation_p.R169S|PDE10A_ENST00000354448.4_Missense_Mutation_p.R159S			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	159	GAF 1.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	GCAGTGTTTTCCTGGACTTGG	0.458																																					Esophageal Squamous(22;308 615 5753 12038 40624)	uc003qun.2		NA																	0				ovary(3)|skin(2)	5						c.(475-477)AGG>AGT		phosphodiesterase 10A isoform 2	Dipyridamole(DB00975)						146.0	138.0	141.0					6																	165848755		2203	4300	6503	SO:0001583	missense	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165848755C>A	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.477G>T	6.37:g.165848755C>A	ENSP00000355847:p.Arg159Ser					PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.R89S|PDE10A_uc003quo.2_Missense_Mutation_p.R169S	p.R159S	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	7	718	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	159			GAF 1.		Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37	c.477G>T		.	.	.	.	.	.	.	.	.	.	C	10.49	1.364842	0.24684	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.67523	-0.27;-0.27	5.49	-1.12	0.09808	GAF (2);	0.175080	0.64402	D	0.000017	T	0.37652	0.1011	L	0.31926	0.97	0.43326	D	0.995357	P;B	0.42078	0.77;0.046	B;B	0.43508	0.422;0.057	T	0.26258	-1.0108	10	0.51188	T	0.08	.	7.7151	0.28700	0.0:0.4112:0.1074:0.4814	.	169;159	Q9ULW9;Q9Y233	.;PDE10_HUMAN	S	159;187;169;159;158	ENSP00000355847:R159S;ENSP00000346435:R159S	ENSP00000341187:R169S	R	-	3	2	PDE10A	165768745	1.000000	0.71417	0.921000	0.36526	0.450000	0.32258	0.890000	0.28295	-0.475000	0.06852	-0.229000	0.12294	AGG		0.458	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			11	60	1	0	0.000151284	0.000167976	11	60				
TCP10L2	401285	broad.mit.edu	37	6	167595389	167595389	+	Silent	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr6:167595389G>A	ENST00000366832.2	+	8	1178	c.1047G>A	c.(1045-1047)caG>caA	p.Q349Q		NM_001145121.1	NP_001138593.1	B9ZVM9	TCP2L_HUMAN	t-complex 10-like 2	349										endometrium(1)|kidney(2)|lung(3)	6						CCTCCAGACAGGACATGGGGC	0.517																																						uc010kkp.2		NA																	0					0						c.(1045-1047)CAG>CAA		t-complex 10-like 2							31.0	23.0	25.0					6																	167595389		681	1483	2164	SO:0001819	synonymous_variant	401285							g.chr6:167595389G>A		CCDS47514.1	6q27	2012-09-20	2012-09-20		ENSG00000166984	ENSG00000166984			21254	protein-coding gene	gene with protein product			"""t-complex 10-like 2 (mouse)"""				Standard	NM_001145121		Approved	bA517H2.3	uc010kkp.3	B9ZVM9	OTTHUMG00000016014	ENST00000366832.2:c.1047G>A	6.37:g.167595389G>A							p.Q349Q	NM_001145121	NP_001138593	B9ZVM9	B9ZVM9_HUMAN			8	1178	+			349						Silent	SNP	ENST00000366832.2	37	c.1047G>A	CCDS47514.1																																																																																				0.517	TCP10L2-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043112.5	XR_040749		18	8	0	0	0	0	18	8				
NXPH1	30010	broad.mit.edu	37	7	8791022	8791022	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr7:8791022G>T	ENST00000405863.1	+	3	1350	c.439G>T	c.(439-441)Ggg>Tgg	p.G147W	NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_Missense_Mutation_p.G30W	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	147	III.					extracellular region (GO:0005576)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		TCATGGCAATGGGACATTTAG	0.393																																						uc003srv.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(439-441)GGG>TGG		neurexophilin 1 precursor							88.0	87.0	88.0					7																	8791022		1882	4125	6007	SO:0001583	missense	30010					extracellular region		g.chr7:8791022G>T	AB047362	CCDS47540.1	7p22	2003-03-20			ENSG00000122584	ENSG00000122584			20693	protein-coding gene	gene with protein product		604639				9570794	Standard	NM_152745		Approved		uc003srv.3	P58417	OTTHUMG00000151941	ENST00000405863.1:c.439G>T	7.37:g.8791022G>T	ENSP00000384551:p.Gly147Trp					NXPH1_uc011jxh.1_Missense_Mutation_p.G30W	p.G147W	NM_152745	NP_689958	P58417	NXPH1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)	3	1350	+		Ovarian(82;0.0628)	147			III.		Q8NB31	Missense_Mutation	SNP	ENST00000405863.1	37	c.439G>T	CCDS47540.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.549325	0.65311	.	.	ENSG00000122584	ENST00000405863;ENST00000417186	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.85071	0.5613	M	0.85299	2.745	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85837	0.1395	9	0.87932	D	0	-10.0031	20.6208	0.99490	0.0:0.0:1.0:0.0	.	147	P58417	NXPH1_HUMAN	W	147;30	.	ENSP00000384551:G147W	G	+	1	0	NXPH1	8757547	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	9.835000	0.99442	2.882000	0.98803	0.655000	0.94253	GGG		0.393	NXPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324591.1	NM_152745		15	50	1	0	2.32e-09	2.91e-09	15	50				
SP4	6671	broad.mit.edu	37	7	21469118	21469118	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr7:21469118C>T	ENST00000222584.3	+	3	553	c.335C>T	c.(334-336)tCa>tTa	p.S112L		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	112					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						CCTCCTGCTTCAAAAGAGAAT	0.438																																						uc003sva.2		NA																	0				ovary(3)|skin(2)	5						c.(334-336)TCA>TTA		Sp4 transcription factor							92.0	80.0	84.0					7																	21469118		2203	4300	6503	SO:0001583	missense	6671				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr7:21469118C>T		CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.335C>T	7.37:g.21469118C>T	ENSP00000222584:p.Ser112Leu					SP4_uc003svb.2_5'UTR	p.S112L	NM_003112	NP_003103	Q02446	SP4_HUMAN			3	516	+			112					O60402|Q32M52	Missense_Mutation	SNP	ENST00000222584.3	37	c.335C>T	CCDS5373.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.77|13.77	2.335221|2.335221	0.41398|0.41398	.|.	.|.	ENSG00000105866|ENSG00000105866	ENST00000446800|ENST00000222584	.|T	.|0.10099	.|2.91	4.46|4.46	4.46|4.46	0.54185|0.54185	.|.	.|0.064953	.|0.64402	.|D	.|0.000006	.|T	.|0.10423	.|0.0255	L|L	0.46157|0.46157	1.445|1.445	0.50813|0.50813	D|D	0.999892|0.999892	.|P	.|0.38504	.|0.634	.|B	.|0.30105	.|0.111	.|T	.|0.19712	.|-1.0297	.|10	0.87932|0.27785	D|T	0|0.31	.|.	17.3279|17.3279	0.87255|0.87255	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|112	.|Q02446	.|SP4_HUMAN	X|L	89|112	.|ENSP00000222584:S112L	ENSP00000402421:Q89X|ENSP00000222584:S112L	Q|S	+|+	1|2	0|0	SP4|SP4	21435643|21435643	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	7.320000|7.320000	0.79064|0.79064	2.308000|2.308000	0.77769|0.77769	0.655000|0.655000	0.94253|0.94253	CAA|TCA		0.438	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112		17	56	0	0	0	0	17	56				
GPR141	353345	broad.mit.edu	37	7	37780667	37780667	+	Missense_Mutation	SNP	G	G	T	rs145445554	byFrequency	TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr7:37780667G>T	ENST00000447769.1	+	4	961	c.672G>T	c.(670-672)caG>caT	p.Q224H	GPR141_ENST00000461610.1_Intron|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.Q224H			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCTGGGCTCAGCTGAAAAACC	0.438																																						uc003tfm.1		NA																	0				ovary(3)	3						c.(670-672)CAG>CAT		G protein-coupled receptor 141							166.0	165.0	165.0					7																	37780667		2203	4300	6503	SO:0001583	missense	353345					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr7:37780667G>T	AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037		"""GPCR / Class A : Orphans"""	19997	protein-coding gene	gene with protein product		609045				12679517, 14623098	Standard	NM_181791		Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	ENST00000447769.1:c.672G>T	7.37:g.37780667G>T	ENSP00000390410:p.Gln224His					uc003tfl.2_Intron	p.Q224H	NM_181791	NP_861456	Q7Z602	GP141_HUMAN			1	672	+			224			Cytoplasmic (Potential).		A4D1X7|Q0VAR5|Q86SP3	Missense_Mutation	SNP	ENST00000447769.1	37	c.672G>T	CCDS5451.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.938348	0.52972	.	.	ENSG00000187037	ENST00000447769;ENST00000334425	T;T	0.37411	1.2;1.2	5.2	-3.73	0.04398	GPCR, rhodopsin-like superfamily (1);	0.063724	0.64402	D	0.000004	T	0.44222	0.1283	L	0.61387	1.9	0.47037	D	0.999298	D	0.54397	0.966	P	0.56612	0.802	T	0.46400	-0.9194	10	0.38643	T	0.18	-19.0544	13.4372	0.61090	0.1658:0.0:0.8342:0.0	.	224	Q7Z602	GP141_HUMAN	H	224	ENSP00000390410:Q224H;ENSP00000334540:Q224H	ENSP00000334540:Q224H	Q	+	3	2	GPR141	37747192	0.008000	0.16893	0.014000	0.15608	0.990000	0.78478	0.077000	0.14738	-0.594000	0.05836	-0.290000	0.09829	CAG		0.438	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219943.2	NM_181791		43	110	1	0	2.36e-20	3.2e-20	43	110				
COBL	23242	broad.mit.edu	37	7	51097136	51097136	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr7:51097136C>G	ENST00000265136.7	-	10	1822	c.1657G>C	c.(1657-1659)Gat>Cat	p.D553H	COBL_ENST00000395542.2_Missense_Mutation_p.D635H	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	553					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					AACCCCGAATCCACAGGATCA	0.527																																					NSCLC(189;2119 2138 12223 30818 34679)	uc003tpr.3		NA																	0				skin(3)|ovary(2)	5						c.(1657-1659)GAT>CAT		cordon-bleu homolog							81.0	75.0	77.0					7																	51097136		2203	4300	6503	SO:0001583	missense	23242							g.chr7:51097136C>G	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.1657G>C	7.37:g.51097136C>G	ENSP00000265136:p.Asp553His					COBL_uc003tps.2_Missense_Mutation_p.D610H|COBL_uc011kcl.1_Missense_Mutation_p.D553H|COBL_uc003tpp.3_Missense_Mutation_p.D339H|COBL_uc003tpq.3_Missense_Mutation_p.D494H|COBL_uc003tpo.3_Missense_Mutation_p.D95H	p.D553H	NM_015198	NP_056013	O75128	COBL_HUMAN			10	1842	-	Glioma(55;0.08)		553					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	c.1657G>C	CCDS34637.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.29|15.29	2.788794|2.788794	0.49997|0.49997	.|.	.|.	ENSG00000106078|ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542;ENST00000457306|ENST00000452534	T;T;T;T|.	0.32753|.	1.44;1.44;1.44;1.44|.	5.82|5.82	2.89|2.89	0.33648|0.33648	.|.	0.145340|.	0.32041|.	N|.	0.006675|.	T|T	0.39279|0.39279	0.1072|0.1072	L|L	0.52573|0.52573	1.65|1.65	0.09310|0.09310	N|N	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;0.999;1.0;1.0|.	D;D;D;D;D|.	0.97110|.	0.964;0.964;0.921;0.988;1.0|.	T|T	0.26744|0.26744	-1.0094|-1.0094	10|5	0.62326|.	D|.	0.03|.	.|.	5.3557|5.3557	0.16059|0.16059	0.0:0.5024:0.3231:0.1745|0.0:0.5024:0.3231:0.1745	.|.	553;610;553;635;95|.	O75128-3;O75128-7;O75128;O75128-2;O75128-6|.	.;.;COBL_HUMAN;.;.|.	H|A	553;445;438;635;51|528	ENSP00000265136:D553H;ENSP00000401204:D445H;ENSP00000413498:D438H;ENSP00000378912:D635H|.	ENSP00000265136:D553H|.	D|G	-|-	1|2	0|0	COBL|COBL	51064630|51064630	0.019000|0.019000	0.18553|0.18553	0.003000|0.003000	0.11579|0.11579	0.088000|0.088000	0.18126|0.18126	0.678000|0.678000	0.25277|0.25277	0.796000|0.796000	0.33947|0.33947	0.650000|0.650000	0.86243|0.86243	GAT|GGA		0.527	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		22	55	0	0	0	0	22	55				
ZNF679	168417	broad.mit.edu	37	7	63721218	63721218	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr7:63721218C>T	ENST00000421025.1	+	4	442	c.173C>T	c.(172-174)gCt>gTt	p.A58V	ZNF679_ENST00000255746.4_Missense_Mutation_p.A58V	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	58	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						ACAGGTATTGCTGTCTCTAAG	0.333																																						uc003tsx.2		NA																	0				skin(1)	1						c.(172-174)GCT>GTT		zinc finger protein 679							89.0	77.0	81.0					7																	63721218		692	1591	2283	SO:0001583	missense	168417				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63721218C>T	BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"""Zinc fingers, C2H2-type"", ""-"""	28650	protein-coding gene	gene with protein product	"""hypothetical protein MGC42415"""					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.173C>T	7.37:g.63721218C>T	ENSP00000416809:p.Ala58Val						p.A58V	NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN			4	442	+			58			KRAB.			Missense_Mutation	SNP	ENST00000421025.1	37	c.173C>T	CCDS47592.1	.	.	.	.	.	.	.	.	.	.	C	8.683	0.905548	0.17760	.	.	ENSG00000197123	ENST00000421025;ENST00000255746	T;T	0.00792	5.69;5.69	0.235	0.235	0.15431	Krueppel-associated box (3);	.	.	.	.	T	0.00666	0.0022	N	0.25890	0.77	0.21527	N	0.99966	B	0.30793	0.295	B	0.29267	0.1	T	0.47923	-0.9079	8	0.36615	T	0.2	.	.	.	.	.	58	Q8IYX0	ZN679_HUMAN	V	58	ENSP00000416809:A58V;ENSP00000255746:A58V	ENSP00000255746:A58V	A	+	2	0	ZNF679	63358653	0.000000	0.05858	0.501000	0.27601	0.501000	0.33797	-0.363000	0.07593	0.308000	0.22923	0.313000	0.20887	GCT		0.333	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344317.2	NM_153363		14	49	0	0	0	0	14	49				
CLDN3	1365	broad.mit.edu	37	7	73183873	73183873	+	Silent	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr7:73183873G>T	ENST00000395145.2	-	1	727	c.507C>A	c.(505-507)gcC>gcA	p.A169A		NM_001306.3	NP_001297.1	O15551	CLD3_HUMAN	claudin 3	169					calcium-independent cell-cell adhesion (GO:0016338)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)|transmembrane signaling receptor activity (GO:0004888)			kidney(1)|lung(1)	2		Lung NSC(55;0.159)				GCAGCGCCGCGGCCGCCCAGC	0.701																																						uc003tzg.3		NA																	0					0						c.(505-507)GCC>GCA		claudin 3							13.0	15.0	14.0					7																	73183873		2178	4264	6442	SO:0001819	synonymous_variant	1365				response to hypoxia	integral to plasma membrane|tight junction	structural molecule activity|transmembrane receptor activity	g.chr7:73183873G>T	AF007189	CCDS5559.1	7q11	2008-07-18			ENSG00000165215	ENSG00000165215		"""Claudins"""	2045	protein-coding gene	gene with protein product	"""Clostridium perfringens enterotoxin receptor 2"", ""ventral prostate.1-like protein"", ""claudin-3"", ""CPE-receptor 2"""	602910		C7orf1, CPETR2		9441748, 9892664	Standard	NM_001306		Approved	RVP1, CPE-R2, HRVP1	uc003tzg.4	O15551	OTTHUMG00000023424	ENST00000395145.2:c.507C>A	7.37:g.73183873G>T						RFC2_uc011kfa.1_Intron	p.A169A	NM_001306	NP_001297	O15551	CLD3_HUMAN			1	728	-		Lung NSC(55;0.159)	169			Helical; (Potential).			Silent	SNP	ENST00000395145.2	37	c.507C>A	CCDS5559.1																																																																																				0.701	CLDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252310.1	NM_001306		21	26	1	0	8.34e-07	9.92e-07	21	26				
YWHAG	7532	broad.mit.edu	37	7	75988084	75988084	+	Silent	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr7:75988084G>T	ENST00000307630.3	-	1	264	c.42C>A	c.(40-42)gcC>gcA	p.A14A		NM_012479.3	NP_036611.2	P61981	1433G_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma	14					apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|regulation of neuron differentiation (GO:0045664)|regulation of signal transduction (GO:0009966)|regulation of synaptic plasticity (GO:0048167)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	insulin-like growth factor receptor binding (GO:0005159)|poly(A) RNA binding (GO:0044822)|protein kinase C binding (GO:0005080)|protein kinase C inhibitor activity (GO:0008426)			endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						CCGCCTGCTCGGCCAGCCGGG	0.697																																						uc011kgj.1		NA																	0				ovary(1)|lung(1)	2						c.(40-42)GCC>GCA		tyrosine 3-monooxygenase/tryptophan							35.0	37.0	36.0					7																	75988084		2202	4298	6500	SO:0001819	synonymous_variant	7532				G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity	cytosol	insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity	g.chr7:75988084G>T	AF142498	CCDS5584.1	7q11.23	2014-06-13	2013-12-03		ENSG00000170027	ENSG00000170027			12852	protein-coding gene	gene with protein product	"""14-3-3 gamma"", ""protein phosphatase 1, regulatory subunit 170"""	605356	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide"""			10486217, 10433554	Standard	NM_012479		Approved	PPP1R170	uc011kgj.1	P61981	OTTHUMG00000022862	ENST00000307630.3:c.42C>A	7.37:g.75988084G>T							p.A14A	NM_012479	NP_036611	P61981	1433G_HUMAN			1	259	-			14					O70457|P35214|Q6FH52|Q9UDP2|Q9UN99	Silent	SNP	ENST00000307630.3	37	c.42C>A	CCDS5584.1																																																																																				0.697	YWHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253002.1	NM_012479		17	40	1	0	6.94e-10	8.82e-10	17	40				
UPK3B	80761	broad.mit.edu	37	7	76140092	76140092	+	Silent	SNP	C	C	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr7:76140092C>A	ENST00000257632.5	+	1	251	c.123C>A	c.(121-123)acC>acA	p.T41T	UPK3B_ENST00000334348.3_Intron|UPK3B_ENST00000419923.2_Silent_p.T41T|UPK3B_ENST00000394849.1_Intron|UPK3B_ENST00000443097.2_Intron|UPK3B_ENST00000448265.3_Silent_p.T41T			Q9BT76	UPK3B_HUMAN	uroplakin 3B	41					negative regulation of gene expression (GO:0010629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2)	8		Myeloproliferative disorder(862;0.204)				CCAGCCAGACCCAAGGGGCTG	0.706																																						uc003ufq.2		NA																	0				central_nervous_system(1)	1						c.(121-123)ACC>ACA		uroplakin 3B isoform a							13.0	16.0	15.0					7																	76140092		2194	4298	6492	SO:0001819	synonymous_variant	80761				negative regulation of gene expression	integral to membrane|plasma membrane		g.chr7:76140092C>A	BC004304	CCDS5588.1, CCDS5589.1, CCDS64693.1	7q11.2	2003-07-29			ENSG00000243566	ENSG00000243566			21444	protein-coding gene	gene with protein product	"""uroplakin IIIb"""	611887				12446744	Standard	XM_005250612		Approved	MGC10902, p35, UPIIIb, FLJ32198	uc003ufq.3	Q9BT76	OTTHUMG00000149929	ENST00000257632.5:c.123C>A	7.37:g.76140092C>A						UPK3B_uc003ufo.2_Intron|UPK3B_uc010ldk.1_Intron	p.T41T	NM_030570	NP_085047	Q9BT76	UPK3B_HUMAN			1	348	+		Myeloproliferative disorder(862;0.204)	41			Lumenal (Potential).		A6NHH5|A8K231|A8MZA8|B3KPU5|Q75MM5|Q86W06	Silent	SNP	ENST00000257632.5	37	c.123C>A	CCDS5588.1																																																																																				0.706	UPK3B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313978.2	NM_030570		7	22	1	0	1.59e-06	1.87e-06	7	22				
PCLO	27445	broad.mit.edu	37	7	82390032	82390032	+	Missense_Mutation	SNP	C	C	A	rs202016591		TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr7:82390032C>A	ENST00000333891.9	-	24	15548	c.15211G>T	c.(15211-15213)Gta>Tta	p.V5071L		NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGTCTGCATACTCTTGTTTTT	0.333																																						uc003uhx.2		NA																	0				ovary(7)	7						c.(15211-15213)GTA>TTA		piccolo isoform 1							122.0	118.0	119.0					7																	82390032		1820	4074	5894	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82390032C>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.15211G>T	7.37:g.82390032C>A	ENSP00000334319:p.Val5071Leu						p.V5071L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			24	15500	-			4994			C2 2.			Missense_Mutation	SNP	ENST00000333891.9	37	c.15211G>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.282156	0.59867	.	.	ENSG00000186472	ENST00000333891	T	0.75260	-0.92	5.25	5.25	0.73442	.	0.000000	0.39407	U	0.001370	D	0.85687	0.5754	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.87069	0.2158	10	0.87932	D	0	.	18.8516	0.92232	0.0:1.0:0.0:0.0	.	5071	Q9Y6V0-5	.	L	5071	ENSP00000334319:V5071L	ENSP00000334319:V5071L	V	-	1	0	PCLO	82227968	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.446000	0.82766	0.585000	0.79938	GTA		0.333	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		9	36	1	0	1.13e-05	1.29e-05	9	36				
PCLO	27445	broad.mit.edu	37	7	82586052	82586052	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr7:82586052G>T	ENST00000333891.9	-	5	4554	c.4217C>A	c.(4216-4218)cCc>cAc	p.P1406H	PCLO_ENST00000423517.2_Missense_Mutation_p.P1406H	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CAAATCTGAGGGGCTGGAAGG	0.398																																						uc003uhx.2		NA																	0				ovary(7)	7						c.(4216-4218)CCC>CAC		piccolo isoform 1							97.0	90.0	92.0					7																	82586052		1829	4084	5913	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82586052G>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.4217C>A	7.37:g.82586052G>T	ENSP00000334319:p.Pro1406His					PCLO_uc003uhv.2_Missense_Mutation_p.P1406H	p.P1406H	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			5	4506	-			1337						Missense_Mutation	SNP	ENST00000333891.9	37	c.4217C>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.315750	0.40996	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.26223	1.75;1.77	5.77	4.88	0.63580	.	.	.	.	.	T	0.51483	0.1677	M	0.77313	2.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70935	0.971;0.971	T	0.55147	-0.8186	9	0.87932	D	0	.	15.2145	0.73254	0.0686:0.0:0.9314:0.0	.	1406;1406	Q9Y6V0-5;Q9Y6V0-6	.;.	H	1337;1406;1406	ENSP00000334319:P1406H;ENSP00000388393:P1406H	ENSP00000334319:P1406H	P	-	2	0	PCLO	82423988	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.637000	0.74304	2.715000	0.92844	0.655000	0.94253	CCC		0.398	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		16	59	1	0	1.03e-11	1.34e-11	16	59				
SEMA3E	9723	broad.mit.edu	37	7	82996904	82996904	+	Nonstop_Mutation	SNP	A	A	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr7:82996904A>G	ENST00000307792.3	-	17	2793	c.2326T>C	c.(2326-2328)Tga>Cga	p.*776R	SEMA3E_ENST00000427262.1_Nonstop_Mutation_p.*716R	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	0					axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TCACCCCATCAGGAGTCCAGC	0.408																																						uc003uhy.1		NA																	0				ovary(3)	3						c.(2326-2328)TGA>CGA		semaphorin 3E precursor							154.0	155.0	155.0					7																	82996904		2203	4300	6503	SO:0001578	stop_lost	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:82996904A>G	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.2326T>C	7.37:g.82996904A>G	ENSP00000303212:p.*776Glyext*22						p.*776R	NM_012431	NP_036563	O15041	SEM3E_HUMAN			17	2792	-		Medulloblastoma(109;0.109)	776					B4E1P1|Q75M94|Q75M97	Nonstop_Mutation	SNP	ENST00000307792.3	37	c.2326T>C	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	A	12.93	2.086075	0.36855	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.012	0.47667	0.861:0.0:0.0:0.139	.	.	.	.	R	776;716;767	.	.	X	-	1	0	SEMA3E	82834840	1.000000	0.71417	0.139000	0.22197	0.427000	0.31564	4.840000	0.62817	2.149000	0.67028	0.477000	0.44152	TGA		0.408	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		5	244	0	0	0	0	5	244				
PON3	5446	broad.mit.edu	37	7	94996731	94996731	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr7:94996731T>C	ENST00000265627.5	-	5	447	c.437A>G	c.(436-438)gAg>gGg	p.E146G	PON1_ENST00000542556.1_Intron|PON3_ENST00000427422.1_Missense_Mutation_p.E146G|PON3_ENST00000451904.1_Missense_Mutation_p.E146G	NM_000940.2	NP_000931.1	Q15166	PON3_HUMAN	paraoxonase 3	146			E -> K (in dbSNP:rs17878827). {ECO:0000269|Ref.3}.		aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|coumarin catabolic process (GO:0046226)|phenylacetate catabolic process (GO:0010124)|response to external stimulus (GO:0009605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	3,4-dihydrocoumarin hydrolase activity (GO:0018733)|aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|dihydrocoumarin hydrolase activity (GO:0047856)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)		Edetic Acid(DB00974)|Lovastatin(DB00227)	TTGTTGTTCCTCAAATTTAAA	0.348																																						uc003unt.2		NA																	0				ovary(1)	1						c.(436-438)GAG>GGG		paraoxonase 3							136.0	140.0	138.0					7																	94996731		2203	4300	6503	SO:0001583	missense	5446				aromatic compound catabolic process|carboxylic acid catabolic process|response to external stimulus	extracellular space	aryldialkylphosphatase activity|arylesterase activity|metal ion binding|protein homodimerization activity	g.chr7:94996731T>C	L48516, AF320003	CCDS5639.1	7q21.3	2014-03-14			ENSG00000105852	ENSG00000105852	3.1.1.2	"""Paraoxonases"""	9206	protein-coding gene	gene with protein product	"""arylesterase 3"""	602720				8661009	Standard	NM_000940		Approved			Q15166	OTTHUMG00000153917	ENST00000265627.5:c.437A>G	7.37:g.94996731T>C	ENSP00000265627:p.Glu146Gly					PON1_uc011kih.1_Intron|PON3_uc011kii.1_Missense_Mutation_p.E194G	p.E146G	NM_000940	NP_000931	Q15166	PON3_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		5	462	-	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		146					A4D1H8|O75855|O76060|Q6IRU9|Q8IX97|Q9BZH9	Missense_Mutation	SNP	ENST00000265627.5	37	c.437A>G	CCDS5639.1	.	.	.	.	.	.	.	.	.	.	T	12.65	2.002120	0.35320	.	.	ENSG00000105852	ENST00000265627;ENST00000427422	T;T	0.16457	2.34;2.34	4.78	4.78	0.61160	Six-bladed beta-propeller, TolB-like (1);	0.549745	0.20264	N	0.095804	T	0.24967	0.0606	M	0.76838	2.35	0.35072	D	0.762585	P;P	0.48230	0.907;0.885	B;B	0.44224	0.444;0.368	T	0.44982	-0.9292	10	0.66056	D	0.02	-16.9801	9.6671	0.39992	0.1934:0.0:0.0:0.8066	.	194;146	B4E2I0;Q15166	.;PON3_HUMAN	G	146	ENSP00000265627:E146G;ENSP00000413276:E146G	ENSP00000265627:E146G	E	-	2	0	PON3	94834667	0.946000	0.32159	0.976000	0.42696	0.831000	0.47069	2.316000	0.43761	2.156000	0.67533	0.477000	0.44152	GAG		0.348	PON3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333007.1	NM_000940		3	132	0	0	0	0	3	132				
RNF133	168433	broad.mit.edu	37	7	122338423	122338423	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr7:122338423T>C	ENST00000340112.2	-	1	787	c.550A>G	c.(550-552)Atc>Gtc	p.I184V	CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000449022.2_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	184					protein autoubiquitination (GO:0051865)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						ATCCAGATGATGTGCTTTCTC	0.378																																					Colon(198;1778 2057 7449 19869 45985)	uc003vkj.1		NA																	0				skin(1)	1						c.(550-552)ATC>GTC		ring finger protein 133							131.0	116.0	121.0					7																	122338423		2203	4300	6503	SO:0001583	missense	168433					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding	g.chr7:122338423T>C	AF447589	CCDS5784.1	7q31.33	2013-01-09			ENSG00000188050	ENSG00000188050		"""RING-type (C3HC4) zinc fingers"""	21154	protein-coding gene	gene with protein product							Standard	NM_139175		Approved		uc003vkj.1	Q8WVZ7	OTTHUMG00000157092	ENST00000340112.2:c.550A>G	7.37:g.122338423T>C	ENSP00000344489:p.Ile184Val					CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron	p.I184V	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN			1	786	-			184					A4D0W2|Q8N7G7	Missense_Mutation	SNP	ENST00000340112.2	37	c.550A>G	CCDS5784.1	.	.	.	.	.	.	.	.	.	.	T	1.712	-0.498914	0.04291	.	.	ENSG00000188050	ENST00000340112	T	0.13307	2.6	5.62	-1.31	0.09230	.	0.457003	0.20360	N	0.093867	T	0.05364	0.0142	N	0.19112	0.55	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.39375	-0.9617	10	0.16896	T	0.51	.	0.8665	0.01205	0.3599:0.2873:0.1261:0.2267	.	184	Q8WVZ7	RN133_HUMAN	V	184	ENSP00000344489:I184V	ENSP00000344489:I184V	I	-	1	0	RNF133	122125659	0.495000	0.26051	0.743000	0.31040	0.957000	0.61999	0.099000	0.15210	-0.139000	0.11414	0.459000	0.35465	ATC		0.378	RNF133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347413.1	NM_139175		28	73	0	0	0	0	28	73				
NUP205	23165	broad.mit.edu	37	7	135304382	135304382	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr7:135304382G>T	ENST00000285968.6	+	29	4201	c.4175G>T	c.(4174-4176)gGa>gTa	p.G1392V		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1392					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						GCTTCTATTGGAGATTCTTCA	0.363																																						uc003vsw.2		NA																	0				ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(4174-4176)GGA>GTA		nucleoporin 205kDa							58.0	59.0	58.0					7																	135304382		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.chr7:135304382G>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.4175G>T	7.37:g.135304382G>T	ENSP00000285968:p.Gly1392Val					NUP205_uc003vsx.2_5'Flank	p.G1392V	NM_015135	NP_055950	Q92621	NU205_HUMAN			29	4206	+			1392					A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	c.4175G>T	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.565095	0.45694	.	.	ENSG00000155561	ENST00000285968	T	0.29142	1.58	5.67	5.67	0.87782	.	0.096373	0.64402	D	0.000001	T	0.31199	0.0789	L	0.48642	1.525	0.80722	D	1	B	0.20164	0.042	B	0.21917	0.037	T	0.08617	-1.0713	10	0.16896	T	0.51	-22.3211	19.7714	0.96367	0.0:0.0:1.0:0.0	.	1392	Q92621	NU205_HUMAN	V	1392	ENSP00000285968:G1392V	ENSP00000285968:G1392V	G	+	2	0	NUP205	134954922	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.643000	0.67895	2.672000	0.90937	0.484000	0.47621	GGA		0.363	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			7	27	1	0	8.13e-05	9.04e-05	7	27				
DGKI	9162	broad.mit.edu	37	7	137148266	137148266	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr7:137148266G>T	ENST00000288490.5	-	28	2728	c.2728C>A	c.(2728-2730)Ctg>Atg	p.L910M	DGKI_ENST00000446122.1_Missense_Mutation_p.L892M|DGKI_ENST00000453654.2_Intron|DGKI_ENST00000424189.2_Missense_Mutation_p.L923M	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	910					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						AGATCTTTCAGATCTGAGTCC	0.522																																						uc003vtt.2		NA																	0				ovary(1)|kidney(1)|skin(1)	3						c.(2728-2730)CTG>ATG		diacylglycerol kinase, iota							115.0	101.0	105.0					7																	137148266		2203	4300	6503	SO:0001583	missense	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137148266G>T	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.2728C>A	7.37:g.137148266G>T	ENSP00000288490:p.Leu910Met					DGKI_uc003vtu.2_Intron	p.L910M	NM_004717	NP_004708	O75912	DGKI_HUMAN			28	2729	-			910					A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	c.2728C>A	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.464295	0.26335	.	.	ENSG00000157680	ENST00000424189;ENST00000288490;ENST00000446122	T;T	0.35605	1.3;1.5	5.91	-3.79	0.04320	.	1.222620	0.05419	N	0.543811	T	0.16128	0.0388	N	0.08118	0	0.25014	N	0.991385	B	0.06786	0.001	B	0.04013	0.001	T	0.16364	-1.0405	10	0.49607	T	0.09	.	2.5645	0.04779	0.2176:0.0748:0.3693:0.3383	.	910	O75912	DGKI_HUMAN	M	913;910;892	ENSP00000288490:L910M;ENSP00000399131:L892M	ENSP00000288490:L910M	L	-	1	2	DGKI	136798806	0.978000	0.34361	0.036000	0.18154	0.681000	0.39784	-0.028000	0.12350	-0.931000	0.03746	-0.262000	0.10625	CTG		0.522	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		21	42	1	0	1.02e-10	1.31e-10	21	42				
ZNF425	155054	broad.mit.edu	37	7	148801945	148801945	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr7:148801945G>A	ENST00000378061.2	-	4	1150	c.1018C>T	c.(1018-1020)Cgc>Tgc	p.R340C		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	340					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CTCTTCAGGCGGAAGCACCGG	0.662																																						uc003wfj.2		NA																	0				breast(2)|ovary(1)	3						c.(1018-1020)CGC>TGC		zinc finger protein 425							45.0	43.0	43.0					7																	148801945		2203	4300	6503	SO:0001583	missense	155054				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr7:148801945G>A	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.1018C>T	7.37:g.148801945G>A	ENSP00000367300:p.Arg340Cys						p.R340C	NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	1091	-	Melanoma(164;0.15)		340			C2H2-type 5.		B3KPM1|Q08AG3	Missense_Mutation	SNP	ENST00000378061.2	37	c.1018C>T	CCDS34773.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.143021	0.77888	.	.	ENSG00000204947	ENST00000378061	T	0.15952	2.38	3.42	1.53	0.23141	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28632	0.0709	L	0.53671	1.685	0.26541	N	0.974088	D	0.76494	0.999	D	0.65987	0.94	T	0.09509	-1.0671	9	0.59425	D	0.04	.	4.2011	0.10467	0.1171:0.0:0.4806:0.4023	.	340	Q6IV72	ZN425_HUMAN	C	340	ENSP00000367300:R340C	ENSP00000367300:R340C	R	-	1	0	ZNF425	148432878	0.000000	0.05858	0.832000	0.32986	0.989000	0.77384	-0.555000	0.05999	0.245000	0.21373	0.655000	0.94253	CGC		0.662	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140		10	45	0	0	0	0	10	45				
SMARCD3	6604	broad.mit.edu	37	7	150939293	150939293	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr7:150939293G>A	ENST00000262188.8	-	6	1015	c.605C>T	c.(604-606)tCt>tTt	p.S202F	SMARCD3_ENST00000356800.2_Missense_Mutation_p.S189F|SMARCD3_ENST00000392811.2_Missense_Mutation_p.S189F|SMARCD3_ENST00000477169.1_5'UTR|RP4-548D19.3_ENST00000607902.1_RNA	NM_001003801.1	NP_001003801.1	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	202					cardiac right ventricle formation (GO:0003219)|cellular lipid metabolic process (GO:0044255)|chromatin remodeling (GO:0006338)|muscle cell differentiation (GO:0042692)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein binding (GO:0043393)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|secondary heart field specification (GO:0003139)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|receptor binding (GO:0005102)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAAGAAAGAAGAGAACTTCCG	0.547																																						uc003wjs.2		NA																	0				ovary(1)|lung(1)	2						c.(604-606)TCT>TTT		SWI/SNF related, matrix associated, actin							90.0	96.0	94.0					7																	150939293		2203	4300	6503	SO:0001583	missense	6604				cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding	g.chr7:150939293G>A	U66619	CCDS5924.1, CCDS34780.1	7q35-q36	2008-07-18			ENSG00000082014	ENSG00000082014			11108	protein-coding gene	gene with protein product	"""mammalian chromatin remodeling complex BRG1-associated factor 60C"", ""Swp73-like protein"", ""SWI/SNF complex 60 kDa subunit C"", ""60kDa BRG-1/Brm associated factor subunit c"""	601737				8804307, 9693044	Standard	NM_001003801		Approved	BAF60C, Rsc6p, CRACD3	uc003wjs.3	Q6STE5	OTTHUMG00000157431	ENST00000262188.8:c.605C>T	7.37:g.150939293G>A	ENSP00000262188:p.Ser202Phe					SMARCD3_uc003wjt.2_Missense_Mutation_p.S189F|SMARCD3_uc003wju.2_Missense_Mutation_p.S189F|SMARCD3_uc011kvh.1_Missense_Mutation_p.S202F|SMARCD3_uc010lqa.1_Missense_Mutation_p.S202F	p.S202F	NM_001003801	NP_001003801	Q6STE5	SMRD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	6	706	-			202					D3DX10|Q2YD86|Q75MJ2|Q75MR8|Q92926|Q9BUH1	Missense_Mutation	SNP	ENST00000262188.8	37	c.605C>T	CCDS34780.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.533903	0.85812	.	.	ENSG00000082014	ENST00000262188;ENST00000392811;ENST00000356800;ENST00000347683	T;T;T	0.57752	0.38;0.38;0.38	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.78997	0.4372	M	0.92555	3.32	0.80722	D	1	D;D;D;D	0.89917	0.995;0.999;0.994;1.0	D;D;D;D	0.87578	0.986;0.998;0.983;0.995	D	0.84662	0.0707	10	0.87932	D	0	-13.7321	15.9814	0.80114	0.0:0.0:1.0:0.0	.	202;202;189;202	B7Z4U8;B7ZA58;Q6STE5-2;Q6STE5	.;.;.;SMRD3_HUMAN	F	202;189;189;154	ENSP00000262188:S202F;ENSP00000376558:S189F;ENSP00000349254:S189F	ENSP00000262188:S202F	S	-	2	0	SMARCD3	150570226	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.681000	0.74523	2.353000	0.79882	0.462000	0.41574	TCT		0.547	SMARCD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348825.1	NM_001003801		24	130	0	0	0	0	24	130				
SCARA5	286133	broad.mit.edu	37	8	27779353	27779353	+	Silent	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr8:27779353G>A	ENST00000354914.3	-	4	1136	c.651C>T	c.(649-651)ggC>ggT	p.G217G	SCARA5_ENST00000518030.1_Silent_p.G174G|SCARA5_ENST00000524352.1_Silent_p.G217G|SCARA5_ENST00000380385.2_Intron|SCARA5_ENST00000301906.4_Silent_p.G174G	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	217					cellular iron ion homeostasis (GO:0006879)|cellular response to heat (GO:0034605)|endocytosis (GO:0006897)|iron ion transmembrane transport (GO:0034755)|protein homotrimerization (GO:0070207)|receptor-mediated endocytosis (GO:0006898)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)	ferritin receptor activity (GO:0070287)|scavenger receptor activity (GO:0005044)			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		CCAGCTCCTCGCCCAGGATGC	0.721																																						uc003xgj.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(649-651)GGC>GGT		scavenger receptor class A, member 5							7.0	9.0	8.0					8																	27779353		2100	4090	6190	SO:0001819	synonymous_variant	286133				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity	g.chr8:27779353G>A	AK172746	CCDS6064.1	8p21.1	2014-07-08	2014-07-08		ENSG00000168079	ENSG00000168079			28701	protein-coding gene	gene with protein product		611306	"""scavenger receptor class A, member 5 (putative)"""			19154717	Standard	NM_173833		Approved	FLJ23907, MGC45780, NET33	uc003xgj.3	Q6ZMJ2	OTTHUMG00000132172	ENST00000354914.3:c.651C>T	8.37:g.27779353G>A						SCARA5_uc010luz.2_Intron|SCARA5_uc003xgk.2_Silent_p.G174G|SCARA5_uc003xgl.2_Silent_p.G217G	p.G217G	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)	4	1091	-		Ovarian(32;0.0218)	217			Extracellular (Potential).		Q6UXZ1|Q7Z4A1|Q8N4Z7	Silent	SNP	ENST00000354914.3	37	c.651C>T	CCDS6064.1																																																																																				0.721	SCARA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255223.2	NM_173833		4	3	0	0	0	0	4	3				
GSR	2936	broad.mit.edu	37	8	30546804	30546804	+	Silent	SNP	C	C	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr8:30546804C>T	ENST00000221130.5	-	9	1005	c.915G>A	c.(913-915)ttG>ttA	p.L305L	GSR_ENST00000537535.1_Intron|GSR_ENST00000546342.1_Silent_p.L276L|GSR_ENST00000414019.1_Silent_p.L262L|GSR_ENST00000541648.1_Intron	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN	glutathione reductase	305					cell redox homeostasis (GO:0045454)|glutathione metabolic process (GO:0006749)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|glutathione-disulfide reductase activity (GO:0004362)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Flavin adenine dinucleotide(DB03147)|Glutathione(DB00143)	TGCTGACTTCCAAGCCCGACA	0.502																																						uc003xih.1		NA																	0				ovary(2)|pancreas(2)|central_nervous_system(1)	5						c.(913-915)TTG>TTA		glutathione reductase precursor	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)						100.0	92.0	94.0					8																	30546804		2203	4300	6503	SO:0001819	synonymous_variant	2936				cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity	g.chr8:30546804C>T		CCDS34877.1, CCDS56530.1, CCDS56531.1, CCDS56532.1	8p21.1	2012-10-02			ENSG00000104687	ENSG00000104687	1.8.1.7		4623	protein-coding gene	gene with protein product		138300					Standard	NM_000637		Approved		uc003xih.2	P00390	OTTHUMG00000163946	ENST00000221130.5:c.915G>A	8.37:g.30546804C>T							p.L305L	NM_000637	NP_000628	P00390	GSHR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	9	1006	-			305					C8KIL8|C8KIL9|C8KIM0|D3DSV3|Q7Z5C9|Q9NP63	Silent	SNP	ENST00000221130.5	37	c.915G>A	CCDS34877.1	.	.	.	.	.	.	.	.	.	.	C	1.194	-0.634459	0.03584	.	.	ENSG00000104687	ENST00000520888	.	.	.	5.83	4.03	0.46877	.	.	.	.	.	T	0.58850	0.2151	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56463	-0.7975	4	.	.	.	-19.3528	8.6885	0.34251	0.0:0.7633:0.0:0.2367	.	.	.	.	R	259	.	.	G	-	1	0	GSR	30666346	0.997000	0.39634	0.999000	0.59377	0.026000	0.11368	0.331000	0.19733	1.474000	0.48178	0.563000	0.77884	GGA		0.502	GSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376519.1			27	27	0	0	0	0	27	27				
PRDM14	63978	broad.mit.edu	37	8	70970925	70970925	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr8:70970925G>C	ENST00000276594.2	-	6	1537	c.1336C>G	c.(1336-1338)Cgg>Ggg	p.R446G		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	446					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			ATCCGAAGCCGGTCCCGCTTC	0.502																																					NSCLC(129;99 1813 5906 40656 46114)	uc003xym.2		NA																	0				ovary(3)	3						c.(1336-1338)CGG>GGG		PR domain containing 14							115.0	103.0	107.0					8																	70970925		2203	4300	6503	SO:0001583	missense	63978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:70970925G>C	AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"""Zinc fingers, C2H2-type"""	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.1336C>G	8.37:g.70970925G>C	ENSP00000276594:p.Arg446Gly						p.R446G	NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)		6	1538	-	Breast(64;0.193)		446			C2H2-type 2.		Q86UX9	Missense_Mutation	SNP	ENST00000276594.2	37	c.1336C>G	CCDS6206.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.851730	0.51270	.	.	ENSG00000147596	ENST00000276594	T	0.27890	1.64	5.43	4.56	0.56223	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.41488	0.1161	N	0.20574	0.59	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.33929	-0.9849	10	0.49607	T	0.09	-30.5524	16.0433	0.80701	0.0:0.0:0.6625:0.3375	.	446	Q9GZV8	PRD14_HUMAN	G	446	ENSP00000276594:R446G	ENSP00000276594:R446G	R	-	1	2	PRDM14	71133479	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	1.482000	0.35486	0.782000	0.33613	-0.808000	0.03180	CGG		0.502	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1			28	64	0	0	0	0	28	64				
KCNB2	9312	broad.mit.edu	37	8	73849954	73849954	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr8:73849954T>A	ENST00000523207.1	+	3	2952	c.2364T>A	c.(2362-2364)ttT>ttA	p.F788L		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	788					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	CCCCCAGGTTTCCCAAGCAGA	0.537																																						uc003xzb.2		NA																	0				skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7						c.(2362-2364)TTT>TTA		potassium voltage-gated channel, Shab-related							43.0	47.0	46.0					8																	73849954		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73849954T>A	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.2364T>A	8.37:g.73849954T>A	ENSP00000430846:p.Phe788Leu						p.F788L	NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	2952	+	Breast(64;0.137)		788			Cytoplasmic (Potential).		Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.2364T>A	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	T	4.519	0.096359	0.08681	.	.	ENSG00000182674	ENST00000523207	D	0.96745	-4.11	5.04	2.68	0.31781	.	1.715750	0.03569	N	0.228258	D	0.92348	0.7572	L	0.29908	0.895	0.33145	D	0.544857	B	0.11235	0.004	B	0.12837	0.008	T	0.81756	-0.0787	10	0.10111	T	0.7	.	8.045	0.30545	0.0:0.1595:0.0:0.8405	.	788	Q92953	KCNB2_HUMAN	L	788	ENSP00000430846:F788L	ENSP00000430846:F788L	F	+	3	2	KCNB2	74012508	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.592000	0.46171	0.407000	0.25591	-0.353000	0.07706	TTT		0.537	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		21	78	0	0	0	0	21	78				
FAM135B	51059	broad.mit.edu	37	8	139164289	139164289	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr8:139164289C>A	ENST00000395297.1	-	13	2599	c.2429G>T	c.(2428-2430)gGa>gTa	p.G810V		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	810										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGAGCAAGATCCTGGGGAACC	0.537										HNSCC(54;0.14)																												uc003yuy.2		NA																	0				ovary(7)|skin(2)	9						c.(2428-2430)GGA>GTA		hypothetical protein LOC51059							68.0	64.0	65.0					8																	139164289		2203	4300	6503	SO:0001583	missense	51059							g.chr8:139164289C>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2429G>T	8.37:g.139164289C>A	ENSP00000378710:p.Gly810Val	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.G711V|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.G372V|FAM135B_uc003yvb.2_Missense_Mutation_p.G372V	p.G810V	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	2600	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		810					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.2429G>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	11.20	1.568568	0.28003	.	.	ENSG00000147724	ENST00000395297	T	0.14893	2.47	5.64	-1.35	0.09114	.	1.640620	0.02706	N	0.112278	T	0.10937	0.0267	L	0.32530	0.975	0.09310	N	1	P;B;B	0.37207	0.587;0.433;0.03	B;B;B	0.32465	0.146;0.104;0.022	T	0.11251	-1.0595	10	0.30078	T	0.28	-0.0152	2.0954	0.03666	0.1309:0.2808:0.1285:0.4598	.	810;810;810	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	V	810	ENSP00000378710:G810V	ENSP00000276737:G810V	G	-	2	0	FAM135B	139233471	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.404000	0.07205	-0.633000	0.05545	-0.136000	0.14681	GGA		0.537	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		15	99	1	0	0.000219431	0.000243216	15	99				
AGO2	27161	broad.mit.edu	37	8	141568597	141568597	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr8:141568597C>A	ENST00000220592.5	-	7	977	c.865G>T	c.(865-867)Gcc>Tcc	p.A289S	AGO2_ENST00000519980.1_Missense_Mutation_p.A289S	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	289	PAZ. {ECO:0000255|HAMAP-Rule:MF_03031}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										TGGTGACTGGCGGGCCGCCGG	0.597																																						uc003yvn.2		NA																	0					0						c.(865-867)GCC>TCC		argonaute 2 isoform 1							132.0	130.0	130.0					8																	141568597		2203	4300	6503	SO:0001583	missense	27161				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity	g.chr8:141568597C>A	AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"""Argonaute/PIWI family"""	3263	protein-coding gene	gene with protein product	"""argonaute 2"""	606229	"""eukaryotic translation initiation factor 2C, 2"""	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.865G>T	8.37:g.141568597C>A	ENSP00000220592:p.Ala289Ser					EIF2C2_uc010men.2_Missense_Mutation_p.A212S|EIF2C2_uc010meo.2_Missense_Mutation_p.A289S	p.A289S	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.158)		7	905	-	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	289			PAZ.		Q8TCZ5|Q8WV58|Q96ID1	Missense_Mutation	SNP	ENST00000220592.5	37	c.865G>T	CCDS6380.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238944	0.79800	.	.	ENSG00000123908	ENST00000220592;ENST00000519980	T;T	0.08720	3.06;3.06	4.82	4.82	0.62117	Argonaute/Dicer protein, PAZ (4);	0.052127	0.85682	D	0.000000	T	0.36413	0.0966	M	0.88377	2.95	0.80722	D	1	B;B	0.22414	0.032;0.069	B;P	0.49999	0.395;0.628	T	0.39522	-0.9610	10	0.66056	D	0.02	-22.7339	18.3292	0.90263	0.0:1.0:0.0:0.0	.	289;289	Q9UKV8-2;Q9UKV8	.;AGO2_HUMAN	S	289	ENSP00000220592:A289S;ENSP00000430176:A289S	ENSP00000220592:A289S	A	-	1	0	EIF2C2	141637779	1.000000	0.71417	0.904000	0.35570	0.499000	0.33736	7.704000	0.84595	2.390000	0.81377	0.650000	0.86243	GCC		0.597	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4			65	84	1	0	9.65e-37	1.36e-36	65	84				
KIAA2026	158358	broad.mit.edu	37	9	6007399	6007399	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr9:6007399G>A	ENST00000399933.3	-	1	388	c.389C>T	c.(388-390)cCg>cTg	p.P130L	MIR4665_ENST00000581132.1_RNA|KIAA2026_ENST00000381461.2_Missense_Mutation_p.P130L	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	130										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		GGGCTGCTGCGGGAAGGCGCG	0.706																																						uc003zjq.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(388-390)CCG>CTG		hypothetical protein LOC158358							15.0	18.0	17.0					9																	6007399		1889	4088	5977	SO:0001583	missense	158358							g.chr9:6007399G>A	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.389C>T	9.37:g.6007399G>A	ENSP00000382815:p.Pro130Leu						p.P130L	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	1	605	-		Acute lymphoblastic leukemia(23;0.158)	130					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	ENST00000399933.3	37	c.389C>T		.	.	.	.	.	.	.	.	.	.	G	0.104	-1.147422	0.01714	.	.	ENSG00000183354	ENST00000399933;ENST00000381461;ENST00000513355	.	.	.	4.43	1.49	0.22878	Bromodomain (2);	.	.	.	.	T	0.16342	0.0393	N	0.12182	0.205	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.30822	-0.9965	8	0.12103	T	0.63	.	5.13	0.14905	0.2572:0.1582:0.5846:0.0	.	130	Q5HYC2	K2026_HUMAN	L	130	.	ENSP00000370870:P130L	P	-	2	0	KIAA2026	5997399	0.024000	0.19004	0.026000	0.17262	0.056000	0.15407	0.513000	0.22770	0.429000	0.26202	0.561000	0.74099	CCG		0.706	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		24	19	0	0	0	0	24	19				
SIGMAR1	10280	broad.mit.edu	37	9	34635731	34635731	+	Silent	SNP	G	G	C			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr9:34635731G>C	ENST00000277010.4	-	4	643	c.570C>G	c.(568-570)gtC>gtG	p.V190V	SIGMAR1_ENST00000477726.1_Silent_p.V159V|SIGMAR1_ENST00000461426.1_5'UTR|SIGMAR1_ENST00000378892.1_Silent_p.V101V	NM_001282208.1|NM_005866.2	NP_001269137.1|NP_005857.1	Q99720	SGMR1_HUMAN	sigma non-opioid intracellular receptor 1	190					cell death (GO:0008219)|lipid transport (GO:0006869)|nervous system development (GO:0007399)|regulation of neuron apoptotic process (GO:0043523)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lipid particle (GO:0005811)|nuclear envelope (GO:0005635)	drug binding (GO:0008144)|opioid receptor activity (GO:0004985)			large_intestine(1)|lung(1)	2					Amitriptyline(DB00321)|Dextromethorphan(DB00514)|Nortriptyline(DB00540)|Pentazocine(DB00652)|Remoxipride(DB00409)	GGGTGCTGAAGACAGTGTCGG	0.617																																						uc003zvb.2		NA																	0					0						c.(568-570)GTC>GTG		sigma non-opioid intracellular receptor 1	Dextromethorphan(DB00514)						125.0	108.0	114.0					9																	34635731		2203	4300	6503	SO:0001819	synonymous_variant	10280				ergosterol biosynthetic process|lipid transport	cell junction|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|lipid particle|nuclear inner membrane|nuclear outer membrane	C-8 sterol isomerase activity|drug binding	g.chr9:34635731G>C	BC004899	CCDS6562.1, CCDS6563.1	9p13.3	2008-12-18	2008-12-18	2008-12-18	ENSG00000147955	ENSG00000147955			8157	protein-coding gene	gene with protein product		601978	"""opioid receptor, sigma 1"""	OPRS1		8954936, 9453537	Standard	NM_005866		Approved	SR-BP1	uc003zvb.3	Q99720	OTTHUMG00000019829	ENST00000277010.4:c.570C>G	9.37:g.34635731G>C						SIGMAR1_uc003zva.3_Silent_p.V170V|SIGMAR1_uc003zuz.2_Silent_p.V101V|SIGMAR1_uc003zvc.2_Silent_p.V159V|SIGMAR1_uc003zvd.2_RNA|SIGMAR1_uc011loo.1_Intron	p.V190V	NM_005866	NP_005857	Q99720	SGMR1_HUMAN			4	644	-			190			Cytoplasmic (Potential).		D3DRM7|O00673|O00725|Q0Z9W6|Q153Z1|Q2TSD1|Q53GN2|Q7Z653|Q8N7H3|Q9NYX0	Silent	SNP	ENST00000277010.4	37	c.570C>G	CCDS6562.1																																																																																				0.617	SIGMAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052204.1	NM_005866		43	35	0	0	0	0	43	35				
ZNF658	26149	broad.mit.edu	37	9	40772546	40772546	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr9:40772546T>C	ENST00000602553.1	-	5	3023	c.2729A>G	c.(2728-2730)tAt>tGt	p.Y910C	ZNF658_ENST00000377626.3_Missense_Mutation_p.Y910C|ZNF658_ENST00000441795.1_Intron			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	910					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(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ACTGCATTCATAGGGTTTCTC	0.443																																						uc004abs.2		NA																	0				ovary(1)	1						c.(2728-2730)TAT>TGT		zinc finger protein 658							91.0	91.0	91.0					9																	40772546		2201	4279	6480	SO:0001583	missense	26149				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:40772546T>C	AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.2729A>G	9.37:g.40772546T>C	ENSP00000473484:p.Tyr910Cys					ZNF658_uc010mmm.1_Intron|ZNF658_uc010mmn.1_Missense_Mutation_p.Y910C	p.Y910C	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	5	2881	-			910			C2H2-type 20.		Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Missense_Mutation	SNP	ENST00000602553.1	37	c.2729A>G	CCDS35023.1	.	.	.	.	.	.	.	.	.	.	t	11.41	1.630098	0.28978	.	.	ENSG00000196409	ENST00000377626	T	0.25414	1.8	1.86	0.701	0.18104	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28896	0.0717	M	0.88704	2.975	0.19575	N	0.999962	B	0.33413	0.411	B	0.30716	0.119	T	0.40478	-0.9561	9	0.66056	D	0.02	.	1.7323	0.02934	0.2849:0.1807:0.0:0.5344	.	910	Q5TYW1	ZN658_HUMAN	C	910	ENSP00000366853:Y910C	ENSP00000366853:Y910C	Y	-	2	0	ZNF658	40762546	0.001000	0.12720	0.979000	0.43373	0.976000	0.68499	0.327000	0.19663	0.202000	0.20498	0.423000	0.28283	TAT		0.443	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160		139	120	0	0	0	0	139	120				
RASEF	158158	broad.mit.edu	37	9	85616027	85616027	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr9:85616027A>T	ENST00000376447.3	-	10	1481	c.1221T>A	c.(1219-1221)taT>taA	p.Y407*		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	407					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						CCTCATCCACATAGGAAGAGC	0.502																																						uc004amo.1		NA																	0				upper_aerodigestive_tract(1)|lung(1)|breast(1)	3						c.(1219-1221)TAT>TAA		RAS and EF-hand domain containing							42.0	40.0	41.0					9																	85616027		2203	4300	6503	SO:0001587	stop_gained	158158				protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding	g.chr9:85616027A>T	AK056176	CCDS6662.1	9q21.33	2014-05-09	2004-06-11	2004-06-16	ENSG00000165105	ENSG00000165105		"""EF-hand domain containing"", ""RAB, member RAS oncogene"""	26464	protein-coding gene	gene with protein product		611344	"""RAB45, member RAS oncogene family"""	RAB45		17448446	Standard	NM_152573		Approved	FLJ31614	uc004amo.2	Q8IZ41	OTTHUMG00000020100	ENST00000376447.3:c.1221T>A	9.37:g.85616027A>T	ENSP00000365630:p.Tyr407*						p.Y407*	NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN			10	1482	-			407					A6NC29|Q96N04	Nonsense_Mutation	SNP	ENST00000376447.3	37	c.1221T>A	CCDS6662.1	.	.	.	.	.	.	.	.	.	.	A	39	7.492003	0.98319	.	.	ENSG00000165105	ENST00000376447	.	.	.	5.92	-1.39	0.08997	.	0.525202	0.21377	N	0.075524	.	.	.	.	.	.	0.40541	D	0.98102	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.1211	0.53891	0.6361:0.0:0.3639:0.0	.	.	.	.	X	407	.	ENSP00000365630:Y407X	Y	-	3	2	RASEF	84805847	0.745000	0.28261	0.965000	0.40720	0.980000	0.70556	0.355000	0.20163	-0.123000	0.11745	-0.361000	0.07541	TAT		0.502	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052825.1	NM_152573		9	34	0	0	0	0	9	34				
IARS	3376	broad.mit.edu	37	9	95027219	95027219	+	Silent	SNP	G	G	C			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr9:95027219G>C	ENST00000375643.3	-	16	1958	c.1692C>G	c.(1690-1692)acC>acG	p.T564T	IARS_ENST00000443024.2_Silent_p.T564T|IARS_ENST00000447699.2_Silent_p.T454T|IARS_ENST00000375629.3_5'UTR	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	564					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	ACCATCCTCTGGTTTGGTCGA	0.423																																						uc004art.1		NA																	0				ovary(1)|skin(1)	2						c.(1690-1692)ACC>ACG		isoleucine tRNA synthetase	L-Isoleucine(DB00167)						70.0	59.0	63.0					9																	95027219		2203	4300	6503	SO:0001819	synonymous_variant	3376				isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	g.chr9:95027219G>C	AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	5330	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 1, cytoplasmic"""	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.1692C>G	9.37:g.95027219G>C						IARS_uc004ars.1_Silent_p.T409T|IARS_uc004aru.3_Silent_p.T564T|IARS_uc010mqr.2_Silent_p.T454T|IARS_uc010mqt.2_Intron	p.T564T	NM_013417	NP_038203	P41252	SYIC_HUMAN			16	1949	-			564					A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Silent	SNP	ENST00000375643.3	37	c.1692C>G	CCDS6694.1																																																																																				0.423	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161		9	35	0	0	0	0	9	35				
ECM2	1842	broad.mit.edu	37	9	95274325	95274325	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr9:95274325T>A	ENST00000344604.5	-	5	1287	c.1138A>T	c.(1138-1140)Act>Tct	p.T380S	ECM2_ENST00000444490.2_Missense_Mutation_p.T358S|CENPP_ENST00000375587.3_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	380					cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						CCTGAAGAAGTGATATTATTT	0.403																																						uc004ash.2		NA																	0				ovary(1)|skin(1)	2						c.(1138-1140)ACT>TCT		extracellular matrix protein 2 precursor							181.0	164.0	170.0					9																	95274325		2203	4300	6503	SO:0001583	missense	1842				cell-matrix adhesion		integrin binding	g.chr9:95274325T>A	AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"""matrix glycoprotein SC1/ECM2"""	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.1138A>T	9.37:g.95274325T>A	ENSP00000344758:p.Thr380Ser					CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ECM2_uc004asf.3_Missense_Mutation_p.T358S|ECM2_uc011lty.1_Missense_Mutation_p.T380S|ECM2_uc004asg.2_Missense_Mutation_p.T358S	p.T380S	NM_001393	NP_001384	O94769	ECM2_HUMAN			5	1203	-			380			LRR 1.		B2R730|E2PU11|Q5T9F2|Q7Z3D0	Missense_Mutation	SNP	ENST00000344604.5	37	c.1138A>T	CCDS6698.1	.	.	.	.	.	.	.	.	.	.	T	12.91	2.078885	0.36662	.	.	ENSG00000106823	ENST00000444490;ENST00000344604	T;T	0.25414	1.8;5.54	5.68	5.68	0.88126	.	0.899531	0.09883	N	0.743418	T	0.15825	0.0381	N	0.10916	0.065	0.28302	N	0.92307	B;P;B	0.40282	0.256;0.711;0.216	B;B;B	0.37091	0.241;0.194;0.108	T	0.06698	-1.0812	10	0.30078	T	0.28	.	12.496	0.55929	0.1249:0.0:0.0:0.8751	.	380;358;358	O94769;B4DK93;O94769-2	ECM2_HUMAN;.;.	S	358;380	ENSP00000393971:T358S;ENSP00000344758:T380S	ENSP00000344758:T380S	T	-	1	0	ECM2	94314146	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.485000	0.45250	2.307000	0.77673	0.528000	0.53228	ACT		0.403	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053091.1	NM_001393		11	50	0	0	0	0	11	50				
CERCAM	51148	broad.mit.edu	37	9	131193524	131193524	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr9:131193524G>A	ENST00000372838.4	+	9	1543	c.1145G>A	c.(1144-1146)cGc>cAc	p.R382H	CERCAM_ENST00000372842.1_Missense_Mutation_p.R304H|RP11-339B21.10_ENST00000610052.1_RNA	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	382					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						TACTCGGGCCGCACTCTGACC	0.627																																						uc004buz.3		NA																	0				pancreas(1)	1						c.(1144-1146)CGC>CAC		cerebral endothelial cell adhesion molecule 1							85.0	85.0	85.0					9																	131193524		2203	4300	6503	SO:0001583	missense	51148				cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane		g.chr9:131193524G>A	AB040935	CCDS6901.2, CCDS69675.1	9q34.13	2008-02-05	2007-10-17	2007-10-17	ENSG00000167123	ENSG00000167123			23723	protein-coding gene	gene with protein product	"""glycosyltransferase 25 domain containing 3"""		"""cerebral cell adhesion molecule"""	CEECAM1		10608765	Standard	NM_016174		Approved	GLT25D3, CerCAM	uc004buz.4	Q5T4B2	OTTHUMG00000020747	ENST00000372838.4:c.1145G>A	9.37:g.131193524G>A	ENSP00000361929:p.Arg382His					CERCAM_uc004buy.1_Missense_Mutation_p.R304H|CERCAM_uc010mxz.2_Missense_Mutation_p.R304H|CERCAM_uc010mya.1_Missense_Mutation_p.R223H	p.R382H	NM_016174	NP_057258	Q5T4B2	GT253_HUMAN			9	1543	+			382					A7MD00|C4AMA2|Q0VDF3|Q2VPJ4|Q4KMP2|Q5T4B1|Q8N107|Q96EZ5|Q9P226|Q9UMW5	Missense_Mutation	SNP	ENST00000372838.4	37	c.1145G>A	CCDS6901.2	.	.	.	.	.	.	.	.	.	.	G	19.24	3.789219	0.70337	.	.	ENSG00000167123	ENST00000372842;ENST00000372838;ENST00000413863	T;T	0.80653	-1.37;-1.4	5.02	4.1	0.47936	.	0.055960	0.64402	N	0.000001	D	0.86293	0.5898	M	0.74546	2.27	0.80722	D	1	D	0.59767	0.986	P	0.57679	0.825	D	0.87600	0.2496	10	0.72032	D	0.01	-20.9121	12.8845	0.58036	0.0818:0.0:0.9182:0.0	.	382	Q5T4B2	GT253_HUMAN	H	304;382;335	ENSP00000361933:R304H;ENSP00000361929:R382H	ENSP00000361929:R382H	R	+	2	0	CERCAM	130233345	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	7.668000	0.83897	1.197000	0.43143	0.491000	0.48974	CGC		0.627	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054435.2	NM_016174		4	123	0	0	0	0	4	123				
GLRA2	2742	broad.mit.edu	37	X	14708939	14708939	+	Silent	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chrX:14708939G>A	ENST00000218075.4	+	8	1568	c.1038G>A	c.(1036-1038)aaG>aaA	p.K346K	GLRA2_ENST00000355020.4_Silent_p.K346K|GLRA2_ENST00000443437.2_Silent_p.K257K	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	346					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)|synapse assembly (GO:0007416)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)|Lindane(DB00431)	GGCAACACAAGGAGTTCCTGC	0.488																																						uc010nep.2		NA																	0				ovary(1)|lung(1)	2						c.(1036-1038)AAG>AAA		glycine receptor, alpha 2 isoform A	Ethanol(DB00898)|Glycine(DB00145)						156.0	123.0	134.0					X																	14708939		2203	4300	6503	SO:0001819	synonymous_variant	2742				neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chrX:14708939G>A		CCDS14160.1, CCDS48085.1, CCDS55371.1	Xp22.2	2012-02-07			ENSG00000101958	ENSG00000101958		"""Ligand-gated ion channels / Glycine receptors"""	4327	protein-coding gene	gene with protein product		305990		GLR			Standard	NM_002063		Approved		uc010nep.3	P23416	OTTHUMG00000021166	ENST00000218075.4:c.1038G>A	X.37:g.14708939G>A						GLRA2_uc010neq.2_Silent_p.K346K|GLRA2_uc004cwe.3_Silent_p.K346K|GLRA2_uc011mio.1_Silent_p.K257K|GLRA2_uc011mip.1_Silent_p.K324K	p.K346K	NM_001118885	NP_001112357	P23416	GLRA2_HUMAN			9	1370	+	Hepatocellular(33;0.128)		346			Cytoplasmic (Probable).		A8K0J6|B2R6I8|B7Z4F5|J3KQ59|Q53YX7|Q6ICQ0|Q99862	Silent	SNP	ENST00000218075.4	37	c.1038G>A	CCDS14160.1																																																																																				0.488	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055829.1			21	19	0	0	0	0	21	19				
ZXDA	7789	broad.mit.edu	37	X	57934507	57934507	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chrX:57934507G>C	ENST00000358697.4	-	1	2560	c.2348C>G	c.(2347-2349)tCt>tGt	p.S783C		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	783					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						TTCTTTCTGAGAACCATGGTT	0.448																																						uc004dve.2		NA																	0				ovary(1)	1						c.(2347-2349)TCT>TGT		zinc finger, X-linked, duplicated A							127.0	116.0	120.0					X																	57934507		2203	4300	6503	SO:0001583	missense	7789				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:57934507G>C	L14787	CCDS14376.1	Xp11.21	2013-01-08			ENSG00000198205	ENSG00000198205		"""Zinc fingers, C2H2-type"""	13198	protein-coding gene	gene with protein product	"""zinc finger protein 896"""	300235				8268913	Standard	NM_007156		Approved	ZNF896	uc004dve.3	P98168	OTTHUMG00000021688	ENST00000358697.4:c.2348C>G	X.37:g.57934507G>C	ENSP00000351530:p.Ser783Cys						p.S783C	NM_007156	NP_009087	P98168	ZXDA_HUMAN			1	2561	-			783					Q9UJP7	Missense_Mutation	SNP	ENST00000358697.4	37	c.2348C>G	CCDS14376.1	.	.	.	.	.	.	.	.	.	.	.	4.223	0.040217	0.08148	.	.	ENSG00000198205	ENST00000358697	T	0.12465	2.68	3.05	1.19	0.21007	.	0.434355	0.23373	N	0.048881	T	0.08714	0.0216	L	0.36672	1.1	0.27056	N	0.963669	B	0.19935	0.04	B	0.15052	0.012	T	0.29701	-1.0003	9	.	.	.	.	5.5775	0.17231	0.1282:0.1995:0.6723:0.0	.	783	P98168	ZXDA_HUMAN	C	783	ENSP00000351530:S783C	.	S	-	2	0	ZXDA	57951232	1.000000	0.71417	0.489000	0.27452	0.686000	0.39977	3.091000	0.50199	0.178000	0.19917	0.363000	0.22086	TCT		0.448	ZXDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056925.1	NM_007156		25	16	0	0	0	0	25	16				
TAF1	6872	broad.mit.edu	37	X	70612767	70612767	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chrX:70612767A>G	ENST00000373790.4	+	20	3022	c.2971A>G	c.(2971-2973)Aca>Gca	p.T991A	TAF1_ENST00000449580.1_Missense_Mutation_p.T991A|TAF1_ENST00000276072.3_Missense_Mutation_p.T1012A|TAF1_ENST00000423759.1_Missense_Mutation_p.T1012A	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	991					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)				AGTGACAGGAACAGATGCAGA	0.428																																						uc004dzu.3		NA																	0				ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17						c.(2971-2973)ACA>GCA		TBP-associated factor 1 isoform 2							157.0	141.0	146.0					X																	70612767		2203	4300	6503	SO:0001583	missense	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:70612767A>G		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.2971A>G	X.37:g.70612767A>G	ENSP00000362895:p.Thr991Ala					BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.T1012A|TAF1_uc004dzv.3_Missense_Mutation_p.T165A	p.T991A	NM_138923	NP_620278	P21675	TAF1_HUMAN			20	3022	+	Renal(35;0.156)	all_lung(315;0.000321)	991					A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.2971A>G	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	24.1	4.488223	0.84854	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.14266	2.52;2.52;2.52;2.52	5.55	5.55	0.83447	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.044279	0.85682	D	0.000000	T	0.43456	0.1248	M	0.87180	2.865	0.80722	D	1	D;D;D	0.76494	0.999;0.995;0.994	D;D;D	0.81914	0.992;0.995;0.973	T	0.51395	-0.8711	10	0.87932	D	0	.	14.7811	0.69769	1.0:0.0:0.0:0.0	.	991;991;1012	P21675-4;P21675;P21675-2	.;TAF1_HUMAN;.	A	991;991;1012;1012	ENSP00000362895:T991A;ENSP00000389000:T991A;ENSP00000406549:T1012A;ENSP00000276072:T1012A	ENSP00000276072:T1012A	T	+	1	0	TAF1	70529492	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.175000	0.77632	1.872000	0.54250	0.430000	0.28490	ACA		0.428	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		52	31	0	0	0	0	52	31				
KIAA2022	340533	broad.mit.edu	37	X	73962848	73962848	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chrX:73962848G>T	ENST00000055682.6	-	3	2155	c.1544C>A	c.(1543-1545)tCc>tAc	p.S515Y		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	515					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTCCTCTTTGGAACCAACTGG	0.388																																						uc004eby.2		NA																	0				ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(1543-1545)TCC>TAC		hypothetical protein LOC340533							65.0	59.0	61.0					X																	73962848		2201	4293	6494	SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73962848G>T		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.1544C>A	X.37:g.73962848G>T	ENSP00000055682:p.Ser515Tyr						p.S515Y	NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN			3	2161	-			515					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.1544C>A	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	G	8.041	0.763805	0.15914	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.32753	1.44;1.44	6.03	3.07	0.35406	.	0.299430	0.35970	N	0.002880	T	0.17408	0.0418	L	0.29908	0.895	0.27868	N	0.940146	P	0.42649	0.786	B	0.33960	0.173	T	0.12604	-1.0541	10	0.54805	T	0.06	-3.0814	7.8196	0.29280	0.0715:0.1119:0.6845:0.1321	.	515	Q5QGS0	K2022_HUMAN	Y	515	ENSP00000362567:S515Y;ENSP00000055682:S515Y	ENSP00000055682:S515Y	S	-	2	0	KIAA2022	73879573	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	4.112000	0.57845	1.299000	0.44798	0.600000	0.82982	TCC		0.388	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		5	7	1	0	3.6e-05	4.05e-05	5	7				
DACH2	117154	broad.mit.edu	37	X	85969652	85969652	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chrX:85969652A>G	ENST00000373125.4	+	6	1033	c.1033A>G	c.(1033-1035)Act>Gct	p.T345A	DACH2_ENST00000510272.1_Missense_Mutation_p.T126A|DACH2_ENST00000373131.1_Missense_Mutation_p.T332A|DACH2_ENST00000508860.1_Missense_Mutation_p.T178A	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	345					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CCATCTCAATACTATTGCCAA	0.448																																						uc004eew.2		NA																	0				ovary(4)|pancreas(1)	5						c.(1033-1035)ACT>GCT		dachshund 2 isoform a							153.0	122.0	133.0					X																	85969652		2203	4300	6503	SO:0001583	missense	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:85969652A>G	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.1033A>G	X.37:g.85969652A>G	ENSP00000362217:p.Thr345Ala					DACH2_uc004eex.2_Missense_Mutation_p.T332A|DACH2_uc010nmq.2_Missense_Mutation_p.T211A|DACH2_uc011mra.1_Missense_Mutation_p.T178A|DACH2_uc010nmr.2_Missense_Mutation_p.T126A|DACH2_uc004eey.2_Missense_Mutation_p.T28A|DACH2_uc004eez.2_Missense_Mutation_p.T28A	p.T345A	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN			6	1203	+			345					B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	c.1033A>G	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.179042	0.78564	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297	D;D	0.84223	-1.81;-1.82	5.02	5.02	0.67125	.	0.000000	0.64402	D	0.000003	D	0.90366	0.6985	M	0.64404	1.975	0.54753	D	0.999988	D;D;D;P	0.71674	0.973;0.964;0.998;0.89	P;P;D;P	0.87578	0.683;0.612;0.998;0.625	D	0.89493	0.3758	10	0.36615	T	0.2	.	13.9401	0.64050	1.0:0.0:0.0:0.0	.	211;345;332;345	Q1RMF5;A8K3I1;Q96NX9-2;Q96NX9	.;.;.;DACH2_HUMAN	A	345;332;345;178;126;178	ENSP00000362223:T332A;ENSP00000362217:T345A	ENSP00000345134:T345A	T	+	1	0	DACH2	85856308	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	8.415000	0.90241	1.668000	0.50843	0.417000	0.27973	ACT		0.448	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		18	21	0	0	0	0	18	21				
NRK	203447	broad.mit.edu	37	X	105178437	105178437	+	Splice_Site	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chrX:105178437G>T	ENST00000243300.9	+	20	3802		c.e20+1		NRK_ENST00000428173.2_Splice_Site	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase						activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						AGTGCCATCTGTGAGTGTGTT	0.368										HNSCC(51;0.14)																												uc004emd.2		NA																	0				breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						c.e20+1		Nik related kinase							142.0	126.0	131.0					X																	105178437		1964	4168	6132	SO:0001630	splice_region_variant	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105178437G>T	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.3499+1G>T	X.37:g.105178437G>T		HNSCC(51;0.14)				NRK_uc010npc.1_Splice_Site_p.L835_splice	p.L1167_splice	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN			20	3802	+								Q32ND6|Q5H9K2|Q6ZMP2	Splice_Site	SNP	ENST00000243300.9	37	c.3499_splice		.	.	.	.	.	.	.	.	.	.	G	9.777	1.174314	0.21704	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	.	.	.	4.97	4.1	0.47936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.5815	0.33632	0.1122:0.0:0.8878:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NRK	105065093	1.000000	0.71417	0.983000	0.44433	0.149000	0.21700	2.370000	0.44240	1.158000	0.42547	0.600000	0.82982	.		0.368	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465	Intron	29	20	1	0	2.85e-18	3.85e-18	29	20				
GLUD2	2747	broad.mit.edu	37	X	120181945	120181945	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chrX:120181945G>A	ENST00000328078.1	+	1	484	c.407G>A	c.(406-408)cGg>cAg	p.R136Q		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	136					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						GAAGGCTACCGGGCCCAGCAC	0.592																																						uc004eto.2		NA																	0				pancreas(1)	1						c.(406-408)CGG>CAG		glutamate dehydrogenase 2 precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						61.0	47.0	52.0					X																	120181945		2203	4299	6502	SO:0001583	missense	2747				glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	g.chrX:120181945G>A	U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"""glutamate dehydrogenase pseudogene 1"""	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.407G>A	X.37:g.120181945G>A	ENSP00000327589:p.Arg136Gln						p.R136Q	NM_012084	NP_036216	P49448	DHE4_HUMAN			1	484	+			136					B2R8G0|Q9UDQ4	Missense_Mutation	SNP	ENST00000328078.1	37	c.407G>A	CCDS14603.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.313134	0.60414	.	.	ENSG00000182890	ENST00000328078	D	0.98666	-5.06	1.68	-1.79	0.07932	Glutamate/phenylalanine/leucine/valine dehydrogenase, dimerisation domain (1);	0.068397	0.64402	N	0.000018	D	0.99248	0.9738	H	0.99609	4.655	0.58432	D	0.999991	D	0.89917	1.0	D	0.71414	0.973	D	0.95264	0.8371	10	0.87932	D	0	.	1.5692	0.02611	0.1495:0.1994:0.4464:0.2046	.	136	P49448	DHE4_HUMAN	Q	136	ENSP00000327589:R136Q	ENSP00000327589:R136Q	R	+	2	0	GLUD2	120009626	1.000000	0.71417	0.006000	0.13384	0.144000	0.21451	6.185000	0.72013	-0.644000	0.05465	-0.528000	0.04320	CGG		0.592	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084		26	10	0	0	0	0	26	10				
IDS	3423	broad.mit.edu	37	X	148585743	148585743	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chrX:148585743G>C	ENST00000340855.6	-	2	393	c.184C>G	c.(184-186)Cca>Gca	p.P62A	IDS_ENST00000427113.2_Intron|IDS_ENST00000370441.4_Missense_Mutation_p.P62A|IDS_ENST00000422081.2_Intron|IDS_ENST00000541269.1_Intron|IDS_ENST00000370443.4_Missense_Mutation_p.P62A|IDS_ENST00000428056.2_Missense_Mutation_p.P62A|IDS_ENST00000490775.1_5'Flank	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	62					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	lysosomal lumen (GO:0043202)	iduronate-2-sulfatase activity (GO:0004423)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TCAATATTTGGGGACCTCACC	0.562																																						uc011mxe.1		NA																	0					0						c.(184-186)CCA>GCA		iduronate-2-sulfatase isoform a precursor							81.0	61.0	67.0					X																	148585743		2203	4300	6503	SO:0001583	missense	3423					lysosome	iduronate-2-sulfatase activity|metal ion binding	g.chrX:148585743G>C	M58342	CCDS14685.1, CCDS14686.1	Xq27.3-q28	2012-10-02	2008-08-01		ENSG00000010404	ENSG00000010404	3.1.6.13		5389	protein-coding gene	gene with protein product	"""Hunter syndrome"""	300823		SIDS			Standard	NM_006123		Approved		uc011mxe.2	P22304	OTTHUMG00000022615	ENST00000340855.6:c.184C>G	X.37:g.148585743G>C	ENSP00000339801:p.Pro62Ala					IDS_uc011mxf.1_5'UTR|IDS_uc011mxg.1_5'UTR|IDS_uc010nsu.1_Intron|IDS_uc004fcw.3_Intron|IDS_uc011mxh.1_Missense_Mutation_p.P62A|IDS_uc011mxi.1_RNA|IDS_uc011mxj.1_Missense_Mutation_p.P62A	p.P62A	NM_000202	NP_000193	P22304	IDS_HUMAN			2	382	-	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		62					D3DWT4|Q14604|Q9BRM3	Missense_Mutation	SNP	ENST00000340855.6	37	c.184C>G	CCDS14685.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397032	0.83120	.	.	ENSG00000010404	ENST00000340855;ENST00000370441;ENST00000370443;ENST00000428056;ENST00000521702	D;D;D;D;D	0.99981	-10.56;-10.56;-10.56;-10.56;-6.6	4.87	4.87	0.63330	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99984	0.9995	H	0.95645	3.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	D	0.97815	1.0253	10	0.72032	D	0.01	.	16.1349	0.81476	0.0:0.0:1.0:0.0	.	62;62;62	O60597;P22304-2;P22304	.;.;IDS_HUMAN	A	62	ENSP00000339801:P62A;ENSP00000359470:P62A;ENSP00000359472:P62A;ENSP00000390241:P62A;ENSP00000429745:P62A	ENSP00000339801:P62A	P	-	1	0	IDS	148393647	1.000000	0.71417	0.996000	0.52242	0.940000	0.58332	9.096000	0.94182	2.003000	0.58678	0.436000	0.28706	CCA		0.562	IDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058677.3			4	9	0	0	0	0	4	9				
GABRQ	55879	broad.mit.edu	37	X	151806746	151806746	+	Silent	SNP	G	G	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chrX:151806746G>A	ENST00000370306.2	+	1	110	c.90G>A	c.(88-90)ccG>ccA	p.P30P		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	30					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GTCCCATCCCGAAATTCCACT	0.642																																						uc004ffp.1		NA																	0				ovary(2)|pancreas(1)	3						c.(88-90)CCG>CCA		gamma-aminobutyric acid (GABA) receptor, theta							101.0	80.0	87.0					X																	151806746		2203	4300	6503	SO:0001819	synonymous_variant	55879					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	g.chrX:151806746G>A	U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	14454	protein-coding gene	gene with protein product	"""GABA(A) receptor, theta"""	300349	"""gamma-aminobutyric acid (GABA) receptor, theta"""			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.90G>A	X.37:g.151806746G>A							p.P30P	NM_018558	NP_061028	Q9UN88	GBRT_HUMAN			1	110	+	Acute lymphoblastic leukemia(192;6.56e-05)		30			Extracellular (Potential).		A6NFN1|Q32MB4|Q9NZK8	Silent	SNP	ENST00000370306.2	37	c.90G>A	CCDS14707.1																																																																																				0.642	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558		14	18	0	0	0	0	14	18				
PNMA3	29944	broad.mit.edu	37	X	152226119	152226119	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chrX:152226119T>A	ENST00000370264.4	+	1	733	c.707T>A	c.(706-708)tTg>tAg	p.L236*	PNMA3_ENST00000447306.1_Nonsense_Mutation_p.L236*|PNMA3_ENST00000370265.4_Nonsense_Mutation_p.L236*			Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	236					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					ctggctgccttgcagcaggtg	0.552																																						uc004fhc.2		NA																	0				skin(2)|large_intestine(1)	3						c.(706-708)TTG>TAG		paraneoplastic cancer-testis-brain antigen							116.0	118.0	117.0					X																	152226119		2203	4300	6503	SO:0001587	stop_gained	29944				apoptosis	nucleolus	nucleic acid binding|zinc ion binding	g.chrX:152226119T>A	AF083116	CCDS35435.2, CCDS65344.1	Xq28	2012-02-09	2012-02-09		ENSG00000183837	ENSG00000183837		"""Paraneoplastic Ma antigens"""	18742	protein-coding gene	gene with protein product	"""paraneoplastic cancer-testis-brain antigen"""	300675	"""paraneoplastic antigen MA3"""			11558790	Standard	NM_013364		Approved	MA5, MA3, MGC132756, MGC132758	uc004fhc.2	Q9UL41	OTTHUMG00000024195	ENST00000370264.4:c.707T>A	X.37:g.152226119T>A	ENSP00000359286:p.Leu236*					PNMA5_uc004fha.3_5'Flank|PNMA3_uc004fhd.2_5'Flank	p.L236*	NM_013364	NP_037496	Q9UL41	PNMA3_HUMAN			2	1043	+	Acute lymphoblastic leukemia(192;6.56e-05)		236					D3DWT7|Q9H0A4	Nonsense_Mutation	SNP	ENST00000370264.4	37	c.707T>A	CCDS35435.2	.	.	.	.	.	.	.	.	.	.	t	27.6	4.848944	0.91277	.	.	ENSG00000183837	ENST00000370265;ENST00000447306;ENST00000370264	.	.	.	1.98	1.98	0.26296	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.4244	0.16417	0.0:0.0:0.0:1.0	.	.	.	.	X	236	.	ENSP00000359286:L236X	L	+	2	0	PNMA3	151976775	0.242000	0.23868	0.007000	0.13788	0.005000	0.04900	1.993000	0.40747	1.055000	0.40461	0.378000	0.23410	TTG		0.552	PNMA3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060946.2	NM_013364		52	48	0	0	0	0	52	48				
IL9R	3581	broad.mit.edu	37	X	155233507	155233507	+	Silent	SNP	G	G	T			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chrX:155233507G>T	ENST00000244174.5	+	4	599	c.420G>T	c.(418-420)ctG>ctT	p.L140L	IL9R_ENST00000424344.3_Silent_p.L119L|IL9R_ENST00000540897.1_Missense_Mutation_p.C175F|IL9R_ENST00000369423.2_Missense_Mutation_p.C185F	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	140					cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CGGAGTACCTGCCCCGGAGAC	0.622																																						uc004fnv.1		NA																	0					0						c.(418-420)CTG>CTT		interleukin 9 receptor precursor							88.0	85.0	86.0					X																	155233507		2203	4296	6499	SO:0001819	synonymous_variant	3581				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity	g.chrX:155233507G>T	M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"""Pseudoautosomal regions / PAR2"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.420G>T	X.37:g.155233507G>T						IL9R_uc010nvn.2_Silent_p.L119L|IL9R_uc004fnu.1_Missense_Mutation_p.C185F	p.L140L	NM_002186	NP_002177	Q01113	IL9R_HUMAN			4	599	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		140			Extracellular (Potential).		B9ZVT0|Q14634|Q8WWU1|Q96TF0	Silent	SNP	ENST00000244174.5	37	c.420G>T	CCDS14771.4	.	.	.	.	.	.	.	.	.	.	.	4.275	0.050135	0.08243	.	.	ENSG00000124334	ENST00000369423;ENST00000540897	T;T	0.30182	1.54;1.54	1.29	1.29	0.21616	.	.	.	.	.	T	0.18002	0.0432	.	.	.	0.09310	N	1	P	0.52463	0.953	B	0.37888	0.26	T	0.12142	-1.0559	8	0.41790	T	0.15	-14.0689	5.5447	0.17057	0.0:0.0:1.0:0.0	.	185	B9ZVT0	.	F	185;175	ENSP00000358431:C185F;ENSP00000438112:C175F	ENSP00000358431:C185F	C	+	2	0	IL9R	154886701	1.000000	0.71417	0.997000	0.53966	0.628000	0.37860	1.367000	0.34204	0.932000	0.37266	0.287000	0.19450	TGC		0.622	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058981.1	NM_002186		13	24	1	0	1.05e-09	1.33e-09	13	24				
INSC	387755	broad.mit.edu	37	11	15197593	15197601	+	In_Frame_Del	DEL	CAGTGCTGT	CAGTGCTGT	-	rs61745109	byFrequency	TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr11:15197593_15197601delCAGTGCTGT	ENST00000379554.3	+	3	550_558	c.504_512delCAGTGCTGT	c.(502-513)tacagtgctgtc>tac	p.SAV169del	INSC_ENST00000525218.1_In_Frame_Del_p.SAV122del|INSC_ENST00000530161.1_In_Frame_Del_p.SAV122del|INSC_ENST00000424273.1_In_Frame_Del_p.SAV122del|INSC_ENST00000528567.1_In_Frame_Del_p.SAV122del|INSC_ENST00000379556.3_In_Frame_Del_p.SAV122del	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	169					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						TCAGCGAGTACAGTGCTGTCAGCAGGAAC	0.612																																						uc001mly.2		NA																	0				upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)	5						c.(502-513)TACAGTGCTGTC>TAC		inscuteable isoform a			,	2,3972		1,0,1986					,	4.6	1.0			18	9,8061		1,7,4027	no	coding,coding	INSC	NM_001042536.1,NM_001031853.3	,	2,7,6013	A1A1,A1R,RR		0.1115,0.0503,0.0913	,	,		11,12033				SO:0001651	inframe_deletion	387755				cell differentiation|nervous system development	cytoplasm	binding	g.chr11:15197593_15197601delCAGTGCTGT	AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"""inscuteable spindle orientation adaptor protein"""	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.504_512delCAGTGCTGT	11.37:g.15197593_15197601delCAGTGCTGT	ENSP00000368872:p.Ser169_Val171del					INSC_uc001mlz.2_In_Frame_Del_p.SAV122del|INSC_uc001mma.2_In_Frame_Del_p.SAV122del|INSC_uc010rcs.1_In_Frame_Del_p.SAV122del|INSC_uc001mmb.2_In_Frame_Del_p.SAV122del|INSC_uc001mmc.2_In_Frame_Del_p.SAV122del	p.SAV169del	NM_001031853	NP_001027024	Q1MX18	INSC_HUMAN			3	550_558	+			169_171					A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	In_Frame_Del	DEL	ENST00000379554.3	37	c.504_512delCAGTGCTGT	CCDS41621.1																																																																																				0.612	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853		7	12	NA	NA	NA	NA	7	12	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7576858	7576858	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr17:7576858delG	ENST00000269305.4	-	9	1177	c.988delC	c.(988-990)cttfs	p.L330fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.L330fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Frame_Shift_Del_p.L330fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.L330fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Frame_Shift_Del_p.L330fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	330	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		L -> H (in sporadic cancers; somatic mutation).|L -> P (in a sporadic cancer; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.L330fs*15(1)|p.?(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGTACCTGAAGGGTGAAATAT	0.453		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		10	Whole gene deletion(8)|Unknown(1)|Deletion - Frameshift(1)	p.0?(7)|p.L330H(3)|p.?(1)|p.L330P(1)|p.L330R(1)|p.L330fs*15(1)	bone(4)|haematopoietic_and_lymphoid_tissue(2)|central_nervous_system(2)|ovary(1)|stomach(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(988-990)CTTfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							119.0	112.0	114.0					17																	7576858		2203	4300	6503	SO:0001589	frameshift_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7576858delG	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.988delC	17.37:g.7576858delG	ENSP00000269305:p.Leu330fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Frame_Shift_Del_p.L330fs|TP53_uc010cne.1_RNA|TP53_uc010cnf.1_Frame_Shift_Del_p.L198fs|TP53_uc010cng.1_Frame_Shift_Del_p.L198fs|TP53_uc002gii.1_Frame_Shift_Del_p.L198fs|TP53_uc010cnh.1_Frame_Shift_Del_p.L330fs|TP53_uc010cni.1_Frame_Shift_Del_p.L330fs|TP53_uc002gij.2_Frame_Shift_Del_p.L330fs	p.L330fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	9	1182	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	330		L -> H (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> P (in a sporadic cancer; somatic mutation).	Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Interaction with HIPK2.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.988delC	CCDS11118.1																																																																																				0.453	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		27	70	NA	NA	NA	NA	27	70	---	---	---	---
CARM1	10498	broad.mit.edu	37	19	11018818	11018818	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr19:11018818delC	ENST00000327064.4	+	3	640	c.450delC	c.(448-450)ttcfs	p.F150fs	CARM1_ENST00000344150.4_Frame_Shift_Del_p.F150fs	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	150	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						TGCAGTACTTCCAGGTGGGTT	0.652																																						uc002mpz.2		NA																	0					0						c.(448-450)TTCfs		coactivator-associated arginine							119.0	101.0	107.0					19																	11018818		2203	4300	6503	SO:0001589	frameshift_variant	10498				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	g.chr19:11018818delC	AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"""Protein arginine methyltransferases"""	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.450delC	19.37:g.11018818delC	ENSP00000325690:p.Phe150fs					CARM1_uc010dxn.2_RNA	p.F150fs	NM_199141	NP_954592	Q86X55	CARM1_HUMAN			3	576	+			150					A6NN38	Frame_Shift_Del	DEL	ENST00000327064.4	37	c.450delC	CCDS12250.1																																																																																				0.652	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452625.1	XM_032719		32	27	NA	NA	NA	NA	32	27	---	---	---	---
C21orf91	54149	broad.mit.edu	37	21	19165780	19165781	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr21:19165780_19165781insA	ENST00000284881.4	-	5	935_936	c.845_846insT	c.(844-846)ctgfs	p.L282fs	C21orf91_ENST00000400558.3_3'UTR|C21orf91_ENST00000400559.3_Frame_Shift_Ins_p.L281fs|AL109761.5_ENST00000428689.1_RNA|C21orf91-OT1_ENST00000430815.1_lincRNA	NM_001100420.1|NM_017447.3	NP_001093890.1|NP_059143.3			chromosome 21 open reading frame 91											endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9				Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)		GCCCTACTTGCAGACATGGTAA	0.475																																						uc002yko.3		NA																	0				ovary(1)	1						c.(844-846)CTGfs		early undifferentiated retina and lens isoform																																				SO:0001589	frameshift_variant	54149							g.chr21:19165780_19165781insA	AF239726	CCDS42907.1, CCDS42908.1, CCDS42909.1	21q21.1	2011-12-12	2003-07-22		ENSG00000154642	ENSG00000154642			16459	protein-coding gene	gene with protein product	"""cold sore susceptibility gene 1"", ""early undifferentiated retina and lens"""		"""chromosome 21 open reading frame 38"""	C21orf38, C21orf14		22039568	Standard	NM_001100421		Approved	YG81, EURL, CSSG1	uc002yko.4	Q9NYK6	OTTHUMG00000074509	ENST00000284881.4:c.846dupT	21.37:g.19165781_19165781dupA	ENSP00000284881:p.Leu282fs					C21orf91_uc002ykm.2_5'Flank|C21orf91_uc002ykn.2_5'Flank|C21orf91_uc002ykq.3_Frame_Shift_Ins_p.L281fs|C21orf91_uc002ykp.3_3'UTR	p.L282fs	NM_001100420	NP_001093890	Q9NYK6	EURL_HUMAN		Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)	5	936_937	-			282						Frame_Shift_Ins	INS	ENST00000284881.4	37	c.845_846insT	CCDS42907.1																																																																																				0.475	C21orf91-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158215.1	NM_017447		8	22	NA	NA	NA	NA	8	22	---	---	---	---
SI	6476	broad.mit.edu	37	3	164735374	164735374	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr3:164735374delC	ENST00000264382.3	-	31	3783	c.3721delG	c.(3721-3723)gaafs	p.E1241fs		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1241	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TCATATAATTCCCGAACCTCT	0.338										HNSCC(35;0.089)																												uc003fei.2		NA																	0				ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(3721-3723)GAAfs		sucrase-isomaltase	Acarbose(DB00284)						66.0	63.0	64.0					3																	164735374		2203	4299	6502	SO:0001589	frameshift_variant	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164735374delC	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3721delG	3.37:g.164735374delC	ENSP00000264382:p.Glu1241fs	HNSCC(35;0.089)					p.E1241fs	NM_001041	NP_001032	P14410	SUIS_HUMAN			31	3783	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1241			Sucrase.|Lumenal.		A2RUC3|Q1JQ80|Q1RMC2	Frame_Shift_Del	DEL	ENST00000264382.3	37	c.3721delG	CCDS3196.1																																																																																				0.338	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		24	22	NA	NA	NA	NA	24	22	---	---	---	---
LAMA4	3910	broad.mit.edu	37	6	112537599	112537601	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr6:112537599_112537601delGTT	ENST00000230538.7	-	3	662_664	c.265_267delAAC	c.(265-267)aacdel	p.N89del	LAMA4_ENST00000431543.2_In_Frame_Del_p.N89del|LAMA4_ENST00000424408.2_In_Frame_Del_p.N89del|LAMA4_ENST00000389463.4_In_Frame_Del_p.N89del|LAMA4_ENST00000524032.1_5'UTR|RP1-142L7.9_ENST00000603682.1_lincRNA|LAMA4_ENST00000522006.1_In_Frame_Del_p.N89del	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	89	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.N89K(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CCAAACACTCGTTGGAATTGCCA	0.453																																						uc003pvu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9						c.(265-267)AACdel		laminin, alpha 4 isoform 1 precursor																																				SO:0001651	inframe_deletion	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112537599_112537601delGTT		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.265_267delAAC	6.37:g.112537599_112537601delGTT	ENSP00000230538:p.Asn89del					LAMA4_uc003pvv.2_In_Frame_Del_p.N89del|LAMA4_uc003pvt.2_In_Frame_Del_p.N89del|LAMA4_uc003pvw.2_In_Frame_Del_p.N89del	p.N89del	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	3	574_576	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	89			Laminin EGF-like 1.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	In_Frame_Del	DEL	ENST00000230538.7	37	c.265_267delAAC	CCDS43491.1																																																																																				0.453	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		24	56	NA	NA	NA	NA	24	56	---	---	---	---
FAM9A	171482	broad.mit.edu	37	X	8764319	8764320	+	Frame_Shift_Ins	INS	-	-	T	rs1985393		TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chrX:8764319_8764320insT	ENST00000543214.1	-	6	612_613	c.477_478insA	c.(475-480)aaacaafs	p.Q160fs	FAM9A_ENST00000381003.3_Frame_Shift_Ins_p.Q160fs	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	160						nucleus (GO:0005634)				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				CTTTTTAGTTGTTTTTTTTTCA	0.292																																						uc004csg.2		NA																	0					0						c.(475-480)AAACAAfs		family with sequence similarity 9, member A																																				SO:0001589	frameshift_variant	171482					nucleolus		g.chrX:8764319_8764320insT		CCDS14131.1	Xp22.32	2012-11-29			ENSG00000183304	ENSG00000183304			18403	protein-coding gene	gene with protein product	"""testis expressed 39A"""	300477					Standard	NM_174951		Approved	TEX39A	uc004csg.3	Q8IZU1	OTTHUMG00000021110	ENST00000543214.1:c.478dupA	X.37:g.8764328_8764328dupT	ENSP00000440163:p.Gln160fs						p.K159fs	NM_174951	NP_777611	Q8IZU1	FAM9A_HUMAN			6	588_589	-		Hepatocellular(5;0.219)	159_160					B7ZLH5|Q2M2D1	Frame_Shift_Ins	INS	ENST00000543214.1	37	c.477_478insA	CCDS14131.1																																																																																				0.292	FAM9A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055697.1	NM_174951		5	2	NA	NA	NA	NA	5	2	---	---	---	---
APOO	79135	broad.mit.edu	37	X	23897090	23897091	+	Frame_Shift_Ins	INS	-	-	GCTGGCTC			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chrX:23897090_23897091insGCTGGCTC	ENST00000379226.4	-	3	409_410	c.178_179insGAGCCAGC	c.(178-180)cttfs	p.L60fs	APOO_ENST00000379220.3_Frame_Shift_Ins_p.L60fs	NM_024122.4	NP_077027.1	Q9BUR5	APOO_HUMAN	apolipoprotein O	60					lipid transport (GO:0006869)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|mitochondrion (GO:0005739)|very-low-density lipoprotein particle (GO:0034361)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						GCTTTCTTCAAGCTGGCTCCTT	0.441																																						uc004dax.2		NA																	0					0						c.(178-180)CTTfs		apolipoprotein O precursor																																				SO:0001589	frameshift_variant	79135				lipid transport	high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle		g.chrX:23897090_23897091insGCTGGCTC	BC016814	CCDS14208.1	Xp22.11	2013-01-24	2007-01-17	2007-01-17	ENSG00000184831	ENSG00000184831		"""Apolipoproteins"""	28727	protein-coding gene	gene with protein product		300753	"""family with sequence similarity 121B"""	FAM121B		12975309, 16956892	Standard	NR_026545		Approved	MGC4825, My025	uc004dax.3	Q9BUR5	OTTHUMG00000021259	ENST00000379226.4:c.171_178dupGAGCCAGC	X.37:g.23897091_23897098dupGCTGGCTC	ENSP00000368528:p.Leu60fs					APOO_uc004daw.2_RNA|APOO_uc004day.3_RNA	p.L60fs	NM_024122	NP_077027	Q9BUR5	APOO_HUMAN			3	409_410	-			60					B2R4K9|Q9H3J9	Frame_Shift_Ins	INS	ENST00000379226.4	37	c.178_179insGAGCCAGC	CCDS14208.1																																																																																				0.441	APOO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056074.1	NM_024122		14	39	NA	NA	NA	NA	14	39	---	---	---	---
