#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_IsAdjacentToRepeatRegion	i_IsMicroSat	i_MUTSIG_Published_Results	i_Mutation_Status	i_NumberOfSatRepeats	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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_is_in_m2pon	i_refseq_mrna_id	i_secondary_variant_classification	i_site
TYRO3	7301	broad.mit.edu	37	15	41861221	41861222	+	Splice_Site	INS	-	-	CC			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr15:41861221_41861222insCC	ENST00000263798.3	+	9	1476		c.e9+1		TYRO3_ENST00000559066.1_Splice_Site	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase						apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GACCGTGCAGGTGAGGCTTGTA	0.564																																						ENST00000263798.3		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43						c.e9+1		TYRO3 protein tyrosine kinase																																				SO:0001630	splice_region_variant	7301					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr15:41861221_41861222insCC	D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.1252+1->CC	15.37:g.41861221_41861222insCC		False	False		Somatic	0				TYRO3_ENST00000559066.1_Splice_Site		NM_006293.3	NP_006284.2	WXS	Illumina HiSeq	Phase_I	Q06418	TYRO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)	9	1476	+		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)	NA					O14953|Q86VR3	Splice_Site	INS	ENST00000263798.3	37		CCDS10080.1																																																																																				0.564	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2	0		Intron	15:41861221
USP6	9098	broad.mit.edu	37	17	5037246	5037247	+	Frame_Shift_Ins	INS	-	-	GG	rs546022036		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:5037246_5037247insGG	ENST00000574788.1	+	15	2679_2680	c.449_450insGG	c.(448-453)acgactfs	p.T151fs	USP6_ENST00000304328.5_5'UTR|USP6_ENST00000332776.4_Frame_Shift_Ins_p.T151fs|USP6_ENST00000250066.6_Frame_Shift_Ins_p.T151fs			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	151	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GACGTGAGGACGACTCTCCGGA	0.564			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																	ENST00000574788.1		NA		Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	"""COL1A1, CDH11, ZNF9, OMD"""		aneurysmal bone cysts		0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(448-453)acgactfs		ubiquitin specific peptidase 6 (Tre-2 oncogene)																																				SO:0001589	frameshift_variant	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5037246_5037247insGG	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	Exception_encountered	17.37:g.5037246_5037247insGG	ENSP00000460380:p.Thr151fs	False	False		Somatic	1				USP6_ENST00000250066.6_Frame_Shift_Ins_p.T151fs|USP6_ENST00000332776.4_Frame_Shift_Ins_p.T151fs|USP6_ENST00000304328.5_5'UTR	p.T151fs			WXS	Illumina HiSeq	Phase_I	P35125	UBP6_HUMAN			15	2679_2680	+			151			Rab-GAP TBC.		Q15634|Q86WP6|Q8IWT4	Frame_Shift_Ins	INS	ENST00000574788.1	37	c.449_450insGG	CCDS11069.2																																																																																				0.564	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	0	NM_004505		17:5037246
GIGYF2	26058	broad.mit.edu	37	2	233708804	233708806	+	In_Frame_Del	DEL	CAA	CAA	-	rs3816334	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	CAA	CAA	-	-	CAA	CAA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:233708804_233708806delCAA	ENST00000409547.1	+	26	3249_3251	c.2938_2940delCAA	c.(2938-2940)caadel	p.Q984del	GIGYF2_ENST00000409451.3_In_Frame_Del_p.Q1005del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.Q978del|GIGYF2_ENST00000452341.2_In_Frame_Del_p.T823del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.Q984del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.Q1006del|GIGYF2_ENST00000373566.3_In_Frame_Del_p.Q1006del	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	984	Gln-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		gcagcagcagcaacagcaacagc	0.483																																						ENST00000409547.1		NA																	0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(2938-2940)caadel		GRB10 interacting GYF protein 2																																				SO:0001651	inframe_deletion	26058				cell death		protein binding	g.chr2:233708804_233708806delCAA	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.2938_2940delCAA	2.37:g.233708804_233708806delCAA	ENSP00000386537:p.Gln984del	True	False		Somatic	1				GIGYF2_ENST00000373566.3_In_Frame_Del_p.Q1006del|GIGYF2_ENST00000452341.2_In_Frame_Del_p.T823del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.Q984del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.Q978del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.Q1006del|GIGYF2_ENST00000409451.3_In_Frame_Del_p.Q1005del	p.Q984del	NM_015575.3	NP_056390.2	WXS	Illumina HiSeq	Phase_I	Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	26	3249_3251	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	984			Gln-rich.		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	In_Frame_Del	DEL	ENST00000409547.1	37	c.2938_2940delCAA	CCDS33401.1																																																																																				0.483	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	0	NM_001103146		2:233708804
EIF4EBP3	8637	broad.mit.edu	37	5	139931627	139931628	+	IGR	INS	-	-	AGT	rs3085220|rs368142622	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:139931627_139931628insAGT	ENST00000310331.2	+	0	691				SRA1_ENST00000336283.6_In_Frame_Ins_p.110_111insL|SRA1_ENST00000520427.1_5'UTR	NM_003732.2	NP_003723.1	O60516	4EBP3_HUMAN	eukaryotic translation initiation factor 4E binding protein 3						negative regulation of translational initiation (GO:0045947)	eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	translation repressor activity (GO:0030371)			endometrium(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCCTCCATCACAGCCTCAGA	0.589																																						ENST00000336283.6		NA																	0				endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4						c.(328-330)gtg>gtACTg		steroid receptor RNA activator 1				1023,3239		149,725,1257						2.0	1.0		dbSNP_102	71	3314,4926		827,1660,1633	no	coding	SRA1	NM_001035235.2		976,2385,2890	A1A1,A1R,RR		40.2184,24.0028,34.6904				4337,8165				SO:0001628	intergenic_variant	10011				apoptosis|cell differentiation|cell proliferation|transcription, DNA-dependent	cytoplasm|ribonucleoprotein complex	receptor activity	g.chr5:139931627_139931628insAGT	AF038869	CCDS4226.1	5q31.3	2007-07-18			ENSG00000243056	ENSG00000243056			3290	protein-coding gene	gene with protein product		603483				9593750	Standard	NM_003732		Approved	4E-BP3	uc003lfy.1	O60516	OTTHUMG00000129498		5.37:g.139931627_139931628insAGT		False	False		Somatic	0				SRA1_ENST00000520427.1_5'UTR	p.110_111insL	NM_001035235.3	NP_001030312.2	WXS	Illumina HiSeq	Phase_I	Q9HD15	SRA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	1150_1151	-			110	V -> RL (in Ref. 1; AAG02116 and 2; AAL55868).					In_Frame_Ins	INS	ENST00000310331.2	37	c.329_330insACT	CCDS4226.1																																																																																				0.589	EIF4EBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251668.2	0	NM_003732		5:139931627
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-	rs2274212|rs368069269	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433																																						ENST00000379834.2		NA																	1	Substitution - Missense(1)	p.D57G(1)	large_intestine(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(190-192)gacdel		RIO kinase 1																																				SO:0001651	inframe_deletion	83732						ATP binding|protein serine/threonine kinase activity	g.chr6:7393450_7393452delGAC	BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"""RIO kinase 1 (yeast)"""				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.190_192delGAC	6.37:g.7393450_7393452delGAC	ENSP00000369162:p.Asp69del	False	False		Somatic	1					p.D69del	NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	WXS	Illumina HiSeq	Phase_I	Q9BRS2	RIOK1_HUMAN			2	697_699	+	Ovarian(93;0.0418)		69					B2RB28|Q8NDC8|Q96NV9	In_Frame_Del	DEL	ENST00000379834.2	37	c.190_192delGAC	CCDS4500.1																																																																																				0.433	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	0	NM_031480		6:7393450
FNDC1	84624	broad.mit.edu	37	6	159655079	159655081	+	In_Frame_Del	DEL	GAC	GAC	-	rs547492676	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr6:159655079_159655081delGAC	ENST00000297267.9	+	11	3735_3737	c.3535_3537delGAC	c.(3535-3537)gacdel	p.D1180del	FNDC1_ENST00000340366.6_In_Frame_Del_p.D1117del	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1180			D -> E (in dbSNP:rs420054). {ECO:0000269|PubMed:11347906, ECO:0000269|PubMed:15489334}.		cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CTCAGCCGAGGACGACGAGGAGG	0.65																																						ENST00000297267.9		NA																	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(3535-3537)gacdel		fibronectin type III domain containing 1																																				SO:0001651	inframe_deletion	84624					extracellular region		g.chr6:159655079_159655081delGAC	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.3535_3537delGAC	6.37:g.159655082_159655084delGAC	ENSP00000297267:p.Asp1180del	False	False		Somatic	2				FNDC1_ENST00000340366.6_In_Frame_Del_p.D1117del	p.D1180del	NM_032532.2	NP_115921.2	WXS	Illumina HiSeq	Phase_I	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	3735_3737	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	1180		D -> E (in dbSNP:rs420054).			A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	In_Frame_Del	DEL	ENST00000297267.9	37	c.3535_3537delGAC	CCDS47512.1																																																																																				0.650	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	0	NM_032532		6:159655079
AEBP1	165	broad.mit.edu	37	7	44153778	44153780	+	In_Frame_Del	DEL	AGA	AGA	-	rs13928	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr7:44153778_44153780delAGA	ENST00000223357.3	+	21	3700_3702	c.3395_3397delAGA	c.(3394-3399)gagaaa>gaa	p.K1133del	AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1133	Glu-rich.|Interaction with MAPK1 and MAPK3. {ECO:0000250}.|Required for transcriptional repression. {ECO:0000250}.		K -> E (in dbSNP:rs13928). {ECO:0000269|Ref.3}.		cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|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 corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						gaggaggaggagaaagaggagga	0.552																																						ENST00000223357.3		NA																	0				NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						c.(3394-3399)gagaaa>gaa		AE binding protein 1																																				SO:0001651	inframe_deletion	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44153778_44153780delAGA	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.3395_3397delAGA	7.37:g.44153778_44153780delAGA	ENSP00000223357:p.Lys1133del	True	False		Somatic	1				AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	p.K1133del	NM_001129.3	NP_001120.3	WXS	Illumina HiSeq	Phase_I	Q8IUX7	AEBP1_HUMAN			21	3700_3702	+			1133		K -> E (in dbSNP:rs13928).	Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	In_Frame_Del	DEL	ENST00000223357.3	37	c.3395_3397delAGA	CCDS5476.1																																																																																				0.552	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	0	NM_001129		7:44153778
ZNF605	100289635	broad.mit.edu	37	12	133502222	133502222	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:133502222G>T	ENST00000360187.4	-	5	2011	c.1663C>A	c.(1663-1665)Cac>Aac	p.H555N	ZNF605_ENST00000331711.7_5'Flank|ZNF605_ENST00000392321.3_Missense_Mutation_p.H586N	NM_183238.3	NP_899061.1	Q86T29	ZN605_HUMAN	zinc finger protein 605	555					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)|kidney(16)|large_intestine(5)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00227)|all_epithelial(31;0.142)		OV - Ovarian serous cystadenocarcinoma(86;9.24e-09)|Epithelial(86;2.11e-07)|all cancers(50;5.27e-06)		TCTCCTGTGTGATTTCTTTGA	0.418																																						ENST00000360187.4		NA																	0				breast(1)|kidney(16)|large_intestine(5)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(1663-1665)Cac>Aac		zinc finger protein 605							134.0	131.0	132.0					12																	133502222		2203	4300	6503	SO:0001583	missense	100289635				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:133502222G>T	AL832623	CCDS31938.1, CCDS53850.1	12q24.33	2013-01-08	2009-09-11	2009-09-11		ENSG00000196458		"""Zinc fingers, C2H2-type"", ""-"""	28068	protein-coding gene	gene with protein product							Standard	NM_183238		Approved		uc001uli.3	Q86T29		ENST00000360187.4:c.1663C>A	12.37:g.133502222G>T	ENSP00000353314:p.His555Asn	True	False		Somatic	0				ZNF605_ENST00000392321.3_Missense_Mutation_p.H586N	p.H555N	NM_183238.3	NP_899061.1	WXS	Illumina HiSeq	Phase_I	Q86T29	ZN605_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;9.24e-09)|Epithelial(86;2.11e-07)|all cancers(50;5.27e-06)	5	2011	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00227)|all_epithelial(31;0.142)	555					B3KVG4|D3DXJ0|Q86T91	Missense_Mutation	SNP	ENST00000360187.4	37	c.1663C>A	CCDS31938.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.534721	0.45073	.	.	ENSG00000196458	ENST00000360187;ENST00000392321	T;T	0.67345	-0.26;-0.26	3.72	2.82	0.32997	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.252780	0.20753	N	0.086306	D	0.82403	0.5029	H	0.95884	3.735	0.34548	D	0.711044	D;P	0.59767	0.986;0.474	P;B	0.55455	0.776;0.099	D	0.88781	0.3271	10	0.72032	D	0.01	.	10.1991	0.43073	0.1017:0.0:0.8983:0.0	.	586;555	B3KVG4;Q86T29	.;ZN605_HUMAN	N	555;586	ENSP00000353314:H555N;ENSP00000376135:H586N	ENSP00000353314:H555N	H	-	1	0	ZNF605	132012295	1.000000	0.71417	0.933000	0.37362	0.587000	0.36485	6.182000	0.71995	0.909000	0.36697	0.462000	0.41574	CAC		0.418	ZNF605-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397135.2	0	NM_183238		12:133502222
CCDC30	728621	broad.mit.edu	37	1	43047064	43047064	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:43047064C>A	ENST00000340612.4	+	7	1099	c.1099C>A	c.(1099-1101)Cat>Aat	p.H367N	CCDC30_ENST00000507855.1_Missense_Mutation_p.H156N|CCDC30_ENST00000428554.2_Missense_Mutation_p.H367N|CCDC30_ENST00000390640.4_Missense_Mutation_p.H156N|CCDC30_ENST00000342022.4_Missense_Mutation_p.H367N			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	367						extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						AGAACATGCTCATAAAGTCTG	0.348																																						ENST00000428554.2		NA																	0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						c.(1099-1101)Cat>Aat		coiled-coil domain containing 30							91.0	94.0	93.0					1																	43047064		2203	4300	6503	SO:0001583	missense	728621							g.chr1:43047064C>A	AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"""prefoldin 6-like"""					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.1099C>A	1.37:g.43047064C>A	ENSP00000340378:p.His367Asn	False	False		Somatic	0				CCDC30_ENST00000340612.4_Missense_Mutation_p.H367N|CCDC30_ENST00000342022.4_Missense_Mutation_p.H367N|CCDC30_ENST00000507855.1_Missense_Mutation_p.H156N|CCDC30_ENST00000390640.4_Missense_Mutation_p.H156N	p.H367N			WXS	Illumina HiSeq	Phase_I	Q5VVM6	CCD30_HUMAN			15	2242	+			367					Q14F06|Q5VVM5	Missense_Mutation	SNP	ENST00000340612.4	37	c.1099C>A	CCDS30690.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.701346	0.30142	.	.	ENSG00000186409	ENST00000428554;ENST00000507855;ENST00000340612;ENST00000342022;ENST00000390640	T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74	5.65	1.32	0.21799	.	0.550040	0.19977	N	0.101853	T	0.32194	0.0821	L	0.38838	1.175	0.09310	N	1	B;B;B	0.22003	0.002;0.0;0.063	B;B;B	0.15870	0.001;0.001;0.014	T	0.16070	-1.0415	10	0.24483	T	0.36	.	8.5805	0.33626	0.3756:0.5512:0.0:0.0732	.	367;151;156	Q5VVM6;Q6N081;Q5VVM6-2	CCD30_HUMAN;.;.	N	367;156;367;367;156	ENSP00000397035:H367N;ENSP00000426711:H156N;ENSP00000340378:H367N;ENSP00000339280:H367N;ENSP00000375051:H156N	ENSP00000340378:H367N	H	+	1	0	CCDC30	42819651	0.497000	0.26067	0.064000	0.19789	0.955000	0.61496	0.970000	0.29383	0.377000	0.24735	0.650000	0.86243	CAT		0.348	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019524.3	0	NM_025030		1:43047064
EPHB1	2047	broad.mit.edu	37	3	134873104	134873104	+	Silent	SNP	C	C	A	rs202048188		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:134873104C>A	ENST00000398015.3	+	6	1778	c.1408C>A	c.(1408-1410)Cgg>Agg	p.R470R	EPHB1_ENST00000493838.1_Silent_p.R31R	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	470	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CTATGAGATCCGGTACTATGA	0.542																																						ENST00000398015.3		NA																	0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(1408-1410)Cgg>Agg		EPH receptor B1							102.0	106.0	105.0					3																	134873104		2187	4299	6486	SO:0001819	synonymous_variant	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134873104C>A	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1408C>A	3.37:g.134873104C>A		False	False		Somatic	0				EPHB1_ENST00000493838.1_Silent_p.R31R	p.R470R	NM_004441.4	NP_004432.1	WXS	Illumina HiSeq	Phase_I	P54762	EPHB1_HUMAN			6	1778	+			470			Fibronectin type-III 2.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	ENST00000398015.3	37	c.1408C>A	CCDS46921.1																																																																																				0.542	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	0	NM_004441		3:134873104
VRK2	7444	broad.mit.edu	37	2	58315553	58315553	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:58315553C>A	ENST00000435505.2	+	9	1167	c.422C>A	c.(421-423)tCa>tAa	p.S141*	VRK2_ENST00000340157.4_Nonsense_Mutation_p.S141*|VRK2_ENST00000412104.2_Nonsense_Mutation_p.S141*|VRK2_ENST00000440705.2_Nonsense_Mutation_p.S118*|VRK2_ENST00000417641.2_Nonsense_Mutation_p.S141*			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	141	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to oxidative stress (GO:0034599)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interleukin-1-mediated signaling pathway (GO:2000659)|regulation of MAPK cascade (GO:0043408)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						TTTAAAAAGTCAACTGTCCTG	0.333																																						ENST00000435505.2		NA																	0				endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						c.(421-423)tCa>tAa		vaccinia related kinase 2							133.0	138.0	136.0					2																	58315553		2203	4298	6501	SO:0001587	stop_gained	7444					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:58315553C>A	AK058199	CCDS1859.1, CCDS46291.1, CCDS46292.1	2p16.1	2008-05-15			ENSG00000028116	ENSG00000028116			12719	protein-coding gene	gene with protein product		602169					Standard	NM_001130480		Approved		uc002rzv.3	Q86Y07	OTTHUMG00000129348	ENST00000435505.2:c.422C>A	2.37:g.58315553C>A	ENSP00000408002:p.Ser141*	False	False		Somatic	0				VRK2_ENST00000417641.2_Nonsense_Mutation_p.S141*|VRK2_ENST00000340157.4_Nonsense_Mutation_p.S141*|VRK2_ENST00000412104.2_Nonsense_Mutation_p.S141*|VRK2_ENST00000440705.2_Nonsense_Mutation_p.S118*	p.S141*			WXS	Illumina HiSeq	Phase_I	Q86Y07	VRK2_HUMAN			9	1167	+			141			Protein kinase.		B4DKL0|D6W5D4|D6W5D6|Q49AK9|Q53EU9|Q53S39|Q53S77|Q53TU1|Q86Y08|Q86Y09|Q86Y10|Q86Y11|Q86Y12|Q8IXI5|Q99987	Nonsense_Mutation	SNP	ENST00000435505.2	37	c.422C>A	CCDS1859.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419299	0.83559	.	.	ENSG00000028116	ENST00000435505;ENST00000417641;ENST00000423109;ENST00000412104;ENST00000340157;ENST00000394539;ENST00000440705	.	.	.	5.63	2.31	0.28768	.	0.718459	0.14216	N	0.333731	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-2.966	7.6074	0.28110	0.3729:0.5411:0.0:0.086	.	.	.	.	X	141;141;145;141;141;141;118	.	ENSP00000342381:S141X	S	+	2	0	VRK2	58169057	0.999000	0.42202	0.943000	0.38184	0.354000	0.29330	1.869000	0.39519	0.806000	0.34183	0.655000	0.94253	TCA		0.333	VRK2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325304.2	0	NM_006296		2:58315553
CCPG1	9236	broad.mit.edu	37	15	55657508	55657508	+	Splice_Site	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr15:55657508C>A	ENST00000310958.6	-	7	1005		c.e7-1		CCPG1_ENST00000442196.3_Splice_Site|CCPG1_ENST00000569205.1_Splice_Site|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000425574.3_Splice_Site	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1						cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		TGAATTGTGCCtaaaataaat	0.274																																						ENST00000310958.6		NA																	0				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30						c.e7-1		cell cycle progression 1							58.0	56.0	57.0					15																	55657508		1775	4033	5808	SO:0001630	splice_region_variant	9236				cell cycle	integral to membrane		g.chr15:55657508C>A	AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.707-1G>T	15.37:g.55657508C>A		False	False		Somatic	0				CCPG1_ENST00000442196.3_Splice_Site|CCPG1_ENST00000569205.1_Splice_Site|CCPG1_ENST00000425574.3_Splice_Site|DYX1C1-CCPG1_ENST00000565113.1_RNA		NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	WXS	Illumina HiSeq	Phase_I	Q9ULG6	CCPG1_HUMAN		all cancers(107;0.0354)	7	1005	-			NA					A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Splice_Site	SNP	ENST00000310958.6	37		CCDS42039.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.694925	0.30052	.	.	ENSG00000256061	ENST00000310958;ENST00000442196;ENST00000425574	.	.	.	4.41	3.43	0.39272	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.8455	0.08933	0.0:0.7328:0.0:0.2672	.	.	.	.	.	-1	.	.	.	-	.	.	DYX1C1	53444800	1.000000	0.71417	0.838000	0.33150	0.705000	0.40729	5.724000	0.68500	0.917000	0.36895	0.460000	0.39030	.		0.274	CCPG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419850.1	0	NM_004748	Intron	15:55657508
PSMD1	5707	broad.mit.edu	37	2	231937111	231937111	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:231937111C>A	ENST00000308696.6	+	7	1025	c.863C>A	c.(862-864)cCg>cAg	p.P288Q	PSMD1_ENST00000409643.1_Missense_Mutation_p.P288Q|PSMD1_ENST00000373635.4_Missense_Mutation_p.P288Q	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	288					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)|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 protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)	p.P288Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	GGTACTGTTCCGGGATCAGAG	0.403																																						ENST00000308696.6		NA																	1	Substitution - Missense(1)	p.P288Q(1)	lung(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31						c.(862-864)cCg>cAg		proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	Bortezomib(DB00188)						111.0	115.0	113.0					2																	231937111		2203	4300	6503	SO:0001583	missense	5707				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|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr2:231937111C>A	D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"""Proteasome (prosome, macropain) subunits"""	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.863C>A	2.37:g.231937111C>A	ENSP00000309474:p.Pro288Gln	True	False		Somatic	0				PSMD1_ENST00000373635.4_Missense_Mutation_p.P288Q|PSMD1_ENST00000409643.1_Missense_Mutation_p.P288Q	p.P288Q	NM_002807.3	NP_002798.2	WXS	Illumina HiSeq	Phase_I	Q99460	PSMD1_HUMAN		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	7	1025	+		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)	288					B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Missense_Mutation	SNP	ENST00000308696.6	37	c.863C>A	CCDS2482.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.655523	0.88056	.	.	ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000409643	.	.	.	5.98	5.98	0.97165	Armadillo-type fold (1);	0.140827	0.64402	D	0.000003	T	0.59824	0.2222	L	0.48986	1.54	0.80722	D	1	B;B	0.28178	0.002;0.202	B;B	0.30251	0.006;0.113	T	0.53995	-0.8359	9	0.15952	T	0.53	-2.5112	20.4581	0.99154	0.0:1.0:0.0:0.0	.	288;288	Q99460;Q99460-2	PSMD1_HUMAN;.	Q	288	.	ENSP00000309474:P288Q	P	+	2	0	PSMD1	231645355	1.000000	0.71417	0.997000	0.53966	0.869000	0.49853	7.818000	0.86416	2.835000	0.97688	0.650000	0.86243	CCG		0.403	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2	0			2:231937111
AFG3L2	10939	broad.mit.edu	37	18	12363818	12363818	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr18:12363818C>A	ENST00000269143.3	-	6	821	c.590G>T	c.(589-591)cGa>cTa	p.R197L		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	197					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)	p.R197L(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	AAAGGTCACTCGAACAAAACG	0.303																																						ENST00000269143.3		NA																	1	Substitution - Missense(1)	p.R197L(1)	lung(1)	NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27						c.(589-591)cGa>cTa		AFG3-like AAA ATPase 2	Adenosine triphosphate(DB00171)						83.0	91.0	89.0					18																	12363818		2203	4300	6503	SO:0001583	missense	10939				cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr18:12363818C>A	Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"""ATPases / AAA-type"""	315	protein-coding gene	gene with protein product		604581	"""AFG3 (ATPase family gene 3, yeast)-like 2"", ""spinocerebellar ataxia 28"", ""AFG3 ATPase family gene 3-like 2 (yeast)"", ""AFG3 ATPase family gene 3-like 2 (S. cerevisiae)"", ""AFG3 ATPase family member 3-like 2 (S. cerevisiae)"""	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.590G>T	18.37:g.12363818C>A	ENSP00000269143:p.Arg197Leu	False	False		Somatic	0					p.R197L	NM_006796.2	NP_006787.2	WXS	Illumina HiSeq	Phase_I	Q9Y4W6	AFG32_HUMAN			6	821	-			197					Q6P1L0	Missense_Mutation	SNP	ENST00000269143.3	37	c.590G>T	CCDS11859.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327340	0.81690	.	.	ENSG00000141385	ENST00000269143;ENST00000537174	T	0.74842	-0.88	5.49	5.49	0.81192	Peptidase M41, FtsH extracellular (1);Peptidase M41, FtsH (1);	0.049635	0.85682	D	0.000000	D	0.87063	0.6084	M	0.83953	2.67	0.58432	D	0.999999	D	0.63046	0.992	D	0.63793	0.918	D	0.88175	0.2867	10	0.72032	D	0.01	.	19.7238	0.96153	0.0:1.0:0.0:0.0	.	197	Q9Y4W6	AFG32_HUMAN	L	197;212	ENSP00000269143:R197L	ENSP00000269143:R197L	R	-	2	0	AFG3L2	12353818	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.614000	0.46359	2.740000	0.93945	0.561000	0.74099	CGA		0.303	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254603.2	0	NM_006796		18:12363818
DCP1B	196513	broad.mit.edu	37	12	2062397	2062397	+	Missense_Mutation	SNP	T	T	C			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:2062397T>C	ENST00000280665.6	-	7	788	c.709A>G	c.(709-711)Aaa>Gaa	p.K237E	DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000540622.1_Missense_Mutation_p.K111E|DCP1B_ENST00000397173.4_Missense_Mutation_p.K135E	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	237					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			CATGTAGCTTTGTCCTGCTTC	0.488																																						ENST00000280665.6		NA																	0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24						c.(709-711)Aaa>Gaa		decapping mRNA 1B							56.0	59.0	58.0					12																	2062397		2203	4300	6503	SO:0001583	missense	196513				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2062397T>C	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.709A>G	12.37:g.2062397T>C	ENSP00000280665:p.Lys237Glu	True	False		Somatic	0				DCP1B_ENST00000397173.4_Missense_Mutation_p.K135E|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000540622.1_Missense_Mutation_p.K111E	p.K237E	NM_152640.3	NP_689853.3	WXS	Illumina HiSeq	Phase_I	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		7	788	-			237					B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	37	c.709A>G	CCDS31727.1	.	.	.	.	.	.	.	.	.	.	T	14.59	2.579542	0.46006	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.19669	2.19;2.18;2.13	4.93	3.79	0.43588	.	0.725582	0.14262	N	0.330731	T	0.29223	0.0727	M	0.67953	2.075	0.38015	D	0.934657	P;P	0.47762	0.884;0.9	P;B	0.46419	0.516;0.334	T	0.16041	-1.0416	10	0.62326	D	0.03	-2.4726	9.7109	0.40245	0.0:0.0816:0.0:0.9184	.	135;237	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	E	237;135;111	ENSP00000280665:K237E;ENSP00000380358:K135E;ENSP00000444374:K111E	ENSP00000280665:K237E	K	-	1	0	DCP1B	1932658	0.998000	0.40836	0.662000	0.29724	0.161000	0.22273	2.946000	0.49050	0.912000	0.36772	0.528000	0.53228	AAA		0.488	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	0	NM_152640		12:2062397
SCAF11	9169	broad.mit.edu	37	12	46320956	46320956	+	Missense_Mutation	SNP	C	C	A	rs11574972		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:46320956C>A	ENST00000369367.3	-	11	2761	c.2528G>T	c.(2527-2529)cGg>cTg	p.R843L	SCAF11_ENST00000465950.1_Missense_Mutation_p.R528L|SCAF11_ENST00000549162.1_Missense_Mutation_p.R651L|SCAF11_ENST00000419565.2_Missense_Mutation_p.R843L|SCAF11_ENST00000550629.1_5'Flank	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	843	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GGATTTTTTCCGGCCTCTGGC	0.478																																						ENST00000465950.1		NA																	0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(1582-1584)cGg>cTg		SR-related CTD-associated factor 11							114.0	115.0	114.0					12																	46320956		2203	4300	6503	SO:0001583	missense	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46320956C>A	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.2528G>T	12.37:g.46320956C>A	ENSP00000358374:p.Arg843Leu	False	False		Somatic	0				SCAF11_ENST00000369367.3_Missense_Mutation_p.R843L|SCAF11_ENST00000549162.1_Missense_Mutation_p.R651L|SCAF11_ENST00000419565.2_Missense_Mutation_p.R843L	p.R528L			WXS	Illumina HiSeq	Phase_I	Q99590	SCAFB_HUMAN			1	2792	-			843					A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	37	c.1583G>T	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395667	0.62177	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565;ENST00000547018	T;T;T;T;T	0.51574	1.31;2.05;1.31;2.05;0.7	5.93	5.04	0.67666	.	0.404774	0.23900	N	0.043443	T	0.60792	0.2296	M	0.61703	1.905	0.30181	N	0.800444	D;D	0.69078	0.997;0.984	P;P	0.59056	0.851;0.607	T	0.63963	-0.6518	10	0.52906	T	0.07	-2.496	13.3072	0.60359	0.0:0.9274:0.0:0.0726	.	651;843	F8VXG7;Q99590	.;SCAFB_HUMAN	L	528;843;651;843;783	ENSP00000449812:R528L;ENSP00000358374:R843L;ENSP00000448864:R651L;ENSP00000413036:R843L;ENSP00000446746:R783L	ENSP00000358374:R843L	R	-	2	0	SCAF11	44607223	0.912000	0.30974	0.817000	0.32601	0.973000	0.67179	2.628000	0.46477	1.518000	0.48934	0.655000	0.94253	CGG		0.478	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	0	NM_004719		12:46320956
TLE1	7088	broad.mit.edu	37	9	84208113	84208113	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr9:84208113C>A	ENST00000376499.3	-	15	2472	c.1408G>T	c.(1408-1410)Gga>Tga	p.G470*		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	470					multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						CGGGGGATTCCGGGTCCGATG	0.592																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)	ENST00000376499.3		NA																	0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						c.(1408-1410)Gga>Tga		transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)							102.0	98.0	99.0					9																	84208113		2203	4300	6503	SO:0001587	stop_gained	7088				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding	g.chr9:84208113C>A		CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"""WD repeat domain containing"""	11837	protein-coding gene	gene with protein product	"""enhancer of split groucho 1"""	600189	"""transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"""			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.1408G>T	9.37:g.84208113C>A	ENSP00000365682:p.Gly470*	True	False		Somatic	0					p.G470*	NM_005077.3	NP_005068.2	WXS	Illumina HiSeq	Phase_I	Q04724	TLE1_HUMAN			15	2472	-			470					A8K495|Q5T3G4|Q969V9	Nonsense_Mutation	SNP	ENST00000376499.3	37	c.1408G>T	CCDS6661.1	.	.	.	.	.	.	.	.	.	.	c	49	15.038241	0.99820	.	.	ENSG00000196781	ENST00000376499	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.4443	20.422	0.99049	0.0:1.0:0.0:0.0	.	.	.	.	X	470	.	ENSP00000365682:G470X	G	-	1	0	TLE1	83397933	1.000000	0.71417	0.964000	0.40570	0.971000	0.66376	6.079000	0.71291	2.832000	0.97577	0.655000	0.94253	GGA		0.592	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1	0	NM_005077		9:84208113
SPATA16	83893	broad.mit.edu	37	3	172634107	172634107	+	Splice_Site	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:172634107C>A	ENST00000351008.3	-	9	1686	c.1503G>T	c.(1501-1503)ttG>ttT	p.L501F		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	501					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			AAATACTTACCAATTCTGCCT	0.408																																						ENST00000351008.3		NA																	0				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43						c.(1501-1503)ttG>ttT		spermatogenesis associated 16							154.0	153.0	153.0					3																	172634107		2203	4300	6503	SO:0001630	splice_region_variant	83893				cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	g.chr3:172634107C>A	AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.1503+1G>T	3.37:g.172634107C>A		False	False		Somatic	0					p.L501F	NM_031955.5	NP_114161.3	WXS	Illumina HiSeq	Phase_I	Q9BXB7	SPT16_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)		9	1686	-	Ovarian(172;0.00319)|Breast(254;0.197)		501					Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Splice_Site	SNP	ENST00000351008.3	37	c.1503G>T	CCDS3221.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.491014	0.64074	.	.	ENSG00000144962	ENST00000351008	T	0.26660	1.72	6.16	6.16	0.99307	.	0.109181	0.40908	D	0.000983	T	0.40546	0.1121	L	0.32530	0.975	0.44871	D	0.997886	D	0.63046	0.992	P	0.62298	0.9	T	0.01130	-1.1442	9	.	.	.	-5.1947	20.8598	0.99761	0.0:1.0:0.0:0.0	.	501	Q9BXB7	SPT16_HUMAN	F	501	ENSP00000341765:L501F	.	L	-	3	2	SPATA16	174116801	1.000000	0.71417	0.998000	0.56505	0.184000	0.23303	3.061000	0.49963	2.937000	0.99478	0.650000	0.86243	TTG		0.408	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	0	NM_031955	Missense_Mutation	3:172634107
FAM183B	340286	broad.mit.edu	37	7	38725296	38725296	+	Missense_Mutation	SNP	G	G	A	rs373142679		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr7:38725296G>A	ENST00000409072.3	-	2	1244	c.310C>T	c.(310-312)Cgc>Tgc	p.R104C				Q6ZVS7	F183B_HUMAN	family with sequence similarity 183, member B	104										endometrium(1)|lung(7)	8						TGGTCACGGCGTTCTGGGTCG	0.527																																						ENST00000409072.3		NA																	0				endometrium(1)|lung(7)	8						c.(310-312)Cgc>Tgc		family with sequence similarity 183, member B		G		0,3988		0,0,1994	183.0	183.0	183.0			0.0	0.0	7		183	2,8344		0,2,4171	no	intergenic				0,2,6165	AA,AG,GG		0.024,0.0,0.0162			38725296	2,12332	1994	4173	6167	SO:0001583	missense	340286							g.chr7:38725296G>A	AK124132, BC045803		7p14.1	2008-08-11			ENSG00000164556	ENSG00000164556			34511	protein-coding gene	gene with protein product							Standard	NR_028347		Approved	LOC340286	uc011kbd.2	Q6ZVS7	OTTHUMG00000153653	ENST00000409072.3:c.310C>T	7.37:g.38725296G>A	ENSP00000386657:p.Arg104Cys	False	False		Somatic	0					p.R104C			WXS	Illumina HiSeq	Phase_I					2	1244	-			NA					A4D1Y1	Missense_Mutation	SNP	ENST00000409072.3	37	c.310C>T		.	.	.	.	.	.	.	.	.	.	G	10.13	1.264836	0.23136	0.0	2.4E-4	ENSG00000164556	ENST00000409072	.	.	.	0.962	0.0343	0.14183	.	0.163918	0.38720	N	0.001598	T	0.34803	0.0910	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	T	0.26503	-1.0101	6	0.72032	D	0.01	.	3.2511	0.06815	0.3098:0.0:0.6902:0.0	.	.	.	.	C	104	.	ENSP00000386657:R104C	R	-	1	0	FAM183B	38691821	0.002000	0.14202	0.005000	0.12908	0.002000	0.02628	-0.238000	0.08977	-0.019000	0.14055	-0.251000	0.11542	CGC		0.527	FAM183B-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331972.1	0	NM_001105282		7:38725296
ZNF845	91664	broad.mit.edu	37	19	53855012	53855012	+	Missense_Mutation	SNP	A	A	G			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:53855012A>G	ENST00000595091.1	+	5	1303	c.1084A>G	c.(1084-1086)Aaa>Gaa	p.K362E	ZNF845_ENST00000458035.1_Missense_Mutation_p.K362E			Q96IR2	ZN845_HUMAN	zinc finger protein 845	362					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(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AGAATGTGACAAAGCTTTCAG	0.388																																						ENST00000458035.1		NA																	0				endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(1084-1086)Aaa>Gaa		zinc finger protein 845							34.0	32.0	33.0					19																	53855012		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53855012A>G	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.1084A>G	19.37:g.53855012A>G	ENSP00000470005:p.Lys362Glu	True	False		Somatic	0				ZNF845_ENST00000595091.1_Missense_Mutation_p.K362E	p.K362E	NM_138374.1	NP_612383.1	WXS	Illumina HiSeq	Phase_I	Q96IR2	ZN845_HUMAN			4	1201	+			362						Missense_Mutation	SNP	ENST00000595091.1	37	c.1084A>G	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.932463	0.73442	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.07567	3.18	2.05	2.05	0.26809	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22360	0.0539	M	0.74258	2.255	0.09310	N	1	D	0.63046	0.992	P	0.60473	0.875	T	0.03095	-1.1073	9	0.87932	D	0	.	8.8227	0.35036	1.0:0.0:0.0:0.0	.	362	Q96IR2	ZN845_HUMAN	E	362	ENSP00000388311:K362E	ENSP00000412086:K362E	K	+	1	0	ZNF845	58546824	0.756000	0.28383	0.001000	0.08648	0.920000	0.55202	3.376000	0.52417	0.932000	0.37266	0.172000	0.16884	AAA		0.388	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	0	XM_039908		19:53855012
STS	412	broad.mit.edu	37	X	7268006	7268006	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chrX:7268006G>A	ENST00000217961.4	+	10	1676	c.1456G>A	c.(1456-1458)Gtg>Atg	p.V486M		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	486					cellular protein metabolic process (GO:0044267)|epidermis development (GO:0008544)|female pregnancy (GO:0007565)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|steroid catabolic process (GO:0006706)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|steryl-sulfatase activity (GO:0004773)|sulfuric ester hydrolase activity (GO:0008484)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Norelgestromin(DB06713)	TGCCACACACGTGTGCTTCTG	0.488									Ichthyosis																													ENST00000217961.4		NA																	0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27						c.(1456-1458)Gtg>Atg		steroid sulfatase (microsomal), isozyme S	Estrone(DB00655)						111.0	97.0	102.0					X																	7268006		2203	4299	6502	SO:0001583	missense	412	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity	g.chrX:7268006G>A	M16505	CCDS14127.1	Xp22.32	2013-06-10	2007-07-19		ENSG00000101846	ENSG00000101846	3.1.6.2	"""Arylsulfatase family"""	11425	protein-coding gene	gene with protein product	"""arylsulfatase C"""	300747	"""steroid sulfatase (microsomal), arylsulfatase C, isozyme S"""	ARSC1			Standard	NM_000351		Approved	ARSC	uc004cry.4	P08842	OTTHUMG00000021102	ENST00000217961.4:c.1456G>A	X.37:g.7268006G>A	ENSP00000217961:p.Val486Met	True	False		Somatic	0					p.V486M	NM_000351.4	NP_000342.2	WXS	Illumina HiSeq	Phase_I	P08842	STS_HUMAN			10	1676	+		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)	486					B2RA47	Missense_Mutation	SNP	ENST00000217961.4	37	c.1456G>A	CCDS14127.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.928468	0.34002	.	.	ENSG00000101846	ENST00000217961	D	0.91068	-2.78	4.22	4.22	0.49857	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.186047	0.33023	N	0.005369	D	0.91432	0.7296	M	0.85630	2.765	0.35164	D	0.770921	P	0.51147	0.942	B	0.43301	0.415	D	0.94820	0.7986	10	0.49607	T	0.09	.	14.6151	0.68541	0.0:0.0:1.0:0.0	.	486	P08842	STS_HUMAN	M	486	ENSP00000217961:V486M	ENSP00000217961:V486M	V	+	1	0	STS	7278006	0.997000	0.39634	0.494000	0.27515	0.029000	0.11900	2.447000	0.44917	1.720000	0.51447	0.600000	0.82982	GTG		0.488	STS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055686.1	0	NM_000351		X:7268006
OR2T4	127074	broad.mit.edu	37	1	248524891	248524891	+	Silent	SNP	C	C	T	rs200949727		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:248524891C>T	ENST00000366475.1	+	1	9	c.9C>T	c.(7-9)aaC>aaT	p.N3N		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	3						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCATGGACAACATCACCTGGA	0.468													c|||	1	0.000199681	0.0	0.0014	5008	,	,		19293	0.0		0.0	False		,,,				2504	0.0					ENST00000366475.1		NA																	0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56						c.(7-9)aaC>aaT		olfactory receptor, family 2, subfamily T, member 4							71.0	68.0	69.0					1																	248524891		2203	4300	6503	SO:0001819	synonymous_variant	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248524891C>T	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.9C>T	1.37:g.248524891C>T		False	False		Somatic	0					p.N3N	NM_001004696.1	NP_001004696.1	WXS	Illumina HiSeq	Phase_I	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	9	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		3					Q6IEZ8	Silent	SNP	ENST00000366475.1	37	c.9C>T	CCDS31113.1																																																																																				0.468	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	0	NM_001004696		1:248524891
ZNF471	57573	broad.mit.edu	37	19	57035792	57035792	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:57035792C>A	ENST00000308031.5	+	5	489	c.356C>A	c.(355-357)tCc>tAc	p.S119Y	ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	119					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S119F(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		CTTGAGTGTTCCACTTTTGAA	0.378																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)	ENST00000308031.5		NA																	1	Substitution - Missense(1)	p.S119F(1)	lung(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(355-357)tCc>tAc		zinc finger protein 471							86.0	82.0	83.0					19																	57035792		2203	4300	6503	SO:0001583	missense	57573				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57035792C>A	AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"""Zinc fingers, C2H2-type"", ""-"""	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.356C>A	19.37:g.57035792C>A	ENSP00000309161:p.Ser119Tyr	False	False		Somatic	0				ZNF471_ENST00000591537.1_Intron|ZNF471_ENST00000593197.1_Intron	p.S119Y	NM_020813.2	NP_065864.2	WXS	Illumina HiSeq	Phase_I	Q9BX82	ZN471_HUMAN		GBM - Glioblastoma multiforme(193;0.0307)	5	489	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	119					B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	ENST00000308031.5	37	c.356C>A	CCDS12945.1	.	.	.	.	.	.	.	.	.	.	C	8.530	0.870742	0.17322	.	.	ENSG00000196263	ENST00000308031	T	0.06687	3.27	3.95	1.61	0.23674	.	.	.	.	.	T	0.08358	0.0208	L	0.57536	1.79	0.09310	N	1	P	0.52842	0.956	P	0.44732	0.459	T	0.07233	-1.0783	9	0.02654	T	1	.	7.3183	0.26513	0.0:0.5848:0.3213:0.094	.	119	Q9BX82	ZN471_HUMAN	Y	119	ENSP00000309161:S119Y	ENSP00000309161:S119Y	S	+	2	0	ZNF471	61727604	0.002000	0.14202	0.005000	0.12908	0.940000	0.58332	0.172000	0.16704	0.378000	0.24764	0.563000	0.77884	TCC		0.378	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	0	NM_020813		19:57035792
PROZ	8858	broad.mit.edu	37	13	113826319	113826319	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr13:113826319C>T	ENST00000375547.2	+	8	1110	c.1103C>T	c.(1102-1104)aCg>aTg	p.T368M	PROZ_ENST00000342783.4_Missense_Mutation_p.T390M	NM_003891.2	NP_003882.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	368	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	TGGTTTCTCACGGGGGTCCTG	0.562																																						ENST00000342783.4		NA																	0				NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16						c.(1168-1170)aCg>aTg		protein Z, vitamin K-dependent plasma glycoprotein	Menadione(DB00170)						36.0	34.0	35.0					13																	113826319		2203	4298	6501	SO:0001583	missense	8858				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|serine-type endopeptidase activity	g.chr13:113826319C>T	M55670	CCDS9531.1, CCDS58300.1	13q34	2008-07-18			ENSG00000126231	ENSG00000126231			9460	protein-coding gene	gene with protein product		176895				2244898, 2403355	Standard	NM_001256134		Approved	PZ	uc010agr.2	P22891	OTTHUMG00000017376	ENST00000375547.2:c.1103C>T	13.37:g.113826319C>T	ENSP00000364697:p.Thr368Met	True	False		Somatic	0				PROZ_ENST00000375547.2_Missense_Mutation_p.T368M	p.T390M	NM_001256134.1	NP_001243063.1	WXS	Illumina HiSeq	Phase_I	P22891	PROZ_HUMAN	all cancers(43;0.104)		9	1176	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	368			Peptidase S1.		A6NMB4|Q15213|Q5JVF5|Q5JVF6	Missense_Mutation	SNP	ENST00000375547.2	37	c.1169C>T	CCDS9531.1	.	.	.	.	.	.	.	.	.	.	C	10.19	1.282979	0.23392	.	.	ENSG00000126231	ENST00000375547;ENST00000342783	D;D	0.89050	-2.46;-2.46	3.96	2.78	0.32641	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.303944	0.34986	N	0.003522	D	0.91720	0.7382	M	0.68593	2.085	0.39311	D	0.965077	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.91267	0.5041	10	0.87932	D	0	.	6.4669	0.21987	0.0:0.6801:0.1745:0.1454	.	390;368	P22891-2;P22891	.;PROZ_HUMAN	M	368;390	ENSP00000364697:T368M;ENSP00000344458:T390M	ENSP00000344458:T390M	T	+	2	0	PROZ	112874320	0.916000	0.31088	0.503000	0.27626	0.030000	0.12068	1.723000	0.38053	1.891000	0.54761	0.313000	0.20887	ACG		0.562	PROZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045845.1	0	NM_003891		13:113826319
DENND1A	57706	broad.mit.edu	37	9	126146178	126146178	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr9:126146178C>A	ENST00000373624.2	-	21	1793	c.1592G>T	c.(1591-1593)cGg>cTg	p.R531L	DENND1A_ENST00000394219.3_Missense_Mutation_p.R542L|DENND1A_ENST00000542603.1_Missense_Mutation_p.R316L|DENND1A_ENST00000473039.1_5'UTR	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	531					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						CCTGAGTGTCCGATACGGCTG	0.662																																						ENST00000373624.2		NA																	0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(1591-1593)cGg>cTg		DENN/MADD domain containing 1A							60.0	60.0	60.0					9																	126146178		2203	4300	6503	SO:0001583	missense	57706					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	g.chr9:126146178C>A	AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"""DENN/MADD domain containing"""	29324	protein-coding gene	gene with protein product		613633	"""KIAA1608"""	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.1592G>T	9.37:g.126146178C>A	ENSP00000362727:p.Arg531Leu	False	False		Somatic	0				DENND1A_ENST00000542603.1_Missense_Mutation_p.R316L|DENND1A_ENST00000394219.3_Missense_Mutation_p.R542L|DENND1A_ENST00000473039.1_5'UTR	p.R531L	NM_020946.1	NP_065997.1	WXS	Illumina HiSeq	Phase_I	Q8TEH3	DEN1A_HUMAN			21	1793	-			531					A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Missense_Mutation	SNP	ENST00000373624.2	37	c.1592G>T	CCDS35133.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.290799	0.40494	.	.	ENSG00000119522	ENST00000373624;ENST00000542603;ENST00000394219	T;T;T	0.30714	3.13;1.52;2.83	4.89	4.89	0.63831	.	0.188343	0.45361	D	0.000366	T	0.51822	0.1697	M	0.72118	2.19	0.80722	D	1	P;P;P;D	0.65815	0.738;0.612;0.478;0.995	B;B;B;P	0.59357	0.38;0.253;0.129;0.856	T	0.52373	-0.8584	10	0.41790	T	0.15	-6.3349	18.1242	0.89581	0.0:1.0:0.0:0.0	.	542;532;531;394	Q8TEH3-6;Q8TEH3-7;Q8TEH3;Q9HCG4	.;.;DEN1A_HUMAN;.	L	531;316;542	ENSP00000362727:R531L;ENSP00000437457:R316L;ENSP00000377766:R542L	ENSP00000362727:R531L	R	-	2	0	DENND1A	125185999	1.000000	0.71417	0.972000	0.41901	0.158000	0.22134	1.211000	0.32382	2.265000	0.75225	0.555000	0.69702	CGG		0.662	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	0	NM_024820		9:126146178
PER3	8863	broad.mit.edu	37	1	7887545	7887545	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:7887545G>T	ENST00000361923.2	+	17	2707	c.2532G>T	c.(2530-2532)ttG>ttT	p.L844F	RP3-467L1.4_ENST00000451646.1_RNA|PER3_ENST00000377532.3_Missense_Mutation_p.L852F	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	844	Pro-rich.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.L844F(1)		breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TTCCTTACTTGGATACTTTTA	0.567																																						ENST00000377532.3		NA																	1	Substitution - Missense(1)	p.L844F(1)	lung(1)	breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39						c.(2554-2556)ttG>ttT		period circadian clock 3							174.0	170.0	171.0					1																	7887545		2203	4300	6503	SO:0001583	missense	8863				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr1:7887545G>T	BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.2532G>T	1.37:g.7887545G>T	ENSP00000355031:p.Leu844Phe	False	False		Somatic	0				PER3_ENST00000361923.2_Missense_Mutation_p.L844F	p.L852F			WXS	Illumina HiSeq	Phase_I	P56645	PER3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)	17	2780	+	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	844			Pro-rich.		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	ENST00000361923.2	37	c.2556G>T	CCDS89.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.104242	0.37145	.	.	ENSG00000049246	ENST00000377532;ENST00000361923;ENST00000539773	T;T	0.10668	2.85;2.85	4.2	1.02	0.19986	.	2.753630	0.02126	N	0.056017	T	0.11196	0.0273	L	0.41492	1.28	0.09310	N	1	B;B;B;B	0.19583	0.037;0.021;0.036;0.037	B;B;B;B	0.19391	0.008;0.011;0.025;0.008	T	0.31223	-0.9951	10	0.36615	T	0.2	.	6.0045	0.19539	0.2296:0.1546:0.6158:0.0	.	844;852;852;844	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	F	852;844;55	ENSP00000366755:L852F;ENSP00000355031:L844F	ENSP00000355031:L844F	L	+	3	2	PER3	7810132	0.000000	0.05858	0.000000	0.03702	0.285000	0.27093	0.087000	0.14958	0.021000	0.15133	0.555000	0.69702	TTG		0.567	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	0	NM_016831		1:7887545
TRIP12	9320	broad.mit.edu	37	2	230670536	230670536	+	Intron	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:230670536C>A	ENST00000283943.5	-	17	2531				TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389044.4_Intron|TRIP12_ENST00000389045.3_Missense_Mutation_p.D509Y	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12						cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GAATTAAAATCAATAGTATAA	0.418																																						ENST00000389045.3		NA																	0				breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(1525-1527)Gat>Tat		thyroid hormone receptor interactor 12							116.0	107.0	110.0					2																	230670536		2203	4300	6503	SO:0001627	intron_variant	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230670536C>A	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.2353-18G>T	2.37:g.230670536C>A		False	False		Somatic	0				TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000283943.5_Intron|TRIP12_ENST00000389044.4_Intron	p.D509Y			WXS	Illumina HiSeq	Phase_I	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	15	1597	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	784					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	c.1525G>T	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.707470	0.89018	.	.	ENSG00000153827	ENST00000389045	T	0.57273	0.41	5.77	5.77	0.91146	.	.	.	.	.	T	0.74129	0.3676	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.73748	-0.3885	7	.	.	.	.	18.2216	0.89903	0.0:1.0:0.0:0.0	.	509	Q14CF1	.	Y	509	ENSP00000373697:D509Y	.	D	-	1	0	TRIP12	230378780	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.786000	0.85741	2.729000	0.93468	0.644000	0.83932	GAT		0.418	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	0	NM_004238		2:230670536
DNAH1	25981	broad.mit.edu	37	3	52398935	52398935	+	Silent	SNP	C	C	A	rs199597694		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:52398935C>A	ENST00000420323.2	+	34	5679	c.5418C>A	c.(5416-5418)tcC>tcA	p.S1806S		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1806					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCATCGTGTCCGACCTGTTTC	0.607																																						ENST00000420323.2		NA																	0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(5416-5418)tcC>tcA		dynein, axonemal, heavy chain 1							83.0	89.0	87.0					3																	52398935		2158	4256	6414	SO:0001819	synonymous_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52398935C>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.5418C>A	3.37:g.52398935C>A		False	False		Somatic	0					p.S1806S	NM_015512.4	NP_056327	WXS	Illumina HiSeq	Phase_I	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	34	5679	+			1806					B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	c.5418C>A	CCDS46842.1																																																																																				0.607	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	0	NM_015512		3:52398935
HMGCR	3156	broad.mit.edu	37	5	74643116	74643116	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:74643116G>A	ENST00000287936.4	+	6	694	c.538G>A	c.(538-540)Gga>Aga	p.G180R	HMGCR_ENST00000343975.5_Missense_Mutation_p.G180R|HMGCR_ENST00000511206.1_Missense_Mutation_p.G180R	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	180	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|coenzyme A metabolic process (GO:0015936)|isoprenoid biosynthetic process (GO:0008299)|myoblast differentiation (GO:0045445)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of vasodilation (GO:0045908)|negative regulation of wound healing (GO:0061045)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein tetramerization (GO:0051262)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|ubiquinone metabolic process (GO:0006743)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)	coenzyme binding (GO:0050662)|hydroxymethylglutaryl-CoA reductase (NADPH) activity (GO:0004420)|hydroxymethylglutaryl-CoA reductase activity (GO:0042282)|NADPH binding (GO:0070402)			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Fluvastatin(DB01095)|Lovastatin(DB00227)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	TCTTGTGATTGGAGTTGGTAC	0.353																																						ENST00000287936.4		NA																	0				breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20						c.(538-540)Gga>Aga		3-hydroxy-3-methylglutaryl-CoA reductase	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)						301.0	275.0	284.0					5																	74643116		2203	4300	6503	SO:0001583	missense	3156				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding	g.chr5:74643116G>A		CCDS4027.1, CCDS47234.1	5q13.3-q14	2012-10-02	2010-04-30		ENSG00000113161	ENSG00000113161	1.1.1.88, 1.1.1.34		5006	protein-coding gene	gene with protein product	"""hydroxymethylglutaryl-CoA reductase"", ""3-hydroxy-3-methylglutaryl CoA reductase (NADPH)"""	142910	"""3-hydroxy-3-methylglutaryl-Coenzyme A reductase"""				Standard	NM_000859		Approved		uc003kdp.3	P04035	OTTHUMG00000102069	ENST00000287936.4:c.538G>A	5.37:g.74643116G>A	ENSP00000287936:p.Gly180Arg	False	False		Somatic	0				HMGCR_ENST00000343975.5_Missense_Mutation_p.G180R|HMGCR_ENST00000511206.1_Missense_Mutation_p.G180R	p.G180R	NM_000859.2	NP_000850.1	WXS	Illumina HiSeq	Phase_I	P04035	HMDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	6	694	+		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	180					B7Z3Y9|Q8N190	Missense_Mutation	SNP	ENST00000287936.4	37	c.538G>A	CCDS4027.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.021820	0.93462	.	.	ENSG00000113161	ENST00000511206;ENST00000544469;ENST00000287936;ENST00000343975	D;D;D	0.91945	-2.94;-2.94;-2.94	5.33	5.33	0.75918	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.95868	0.8655	M	0.75085	2.285	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.999	D	0.95438	0.8523	10	0.46703	T	0.11	-22.7867	18.6124	0.91290	0.0:0.0:1.0:0.0	.	180;180;180;180	B2R649;A8KA27;P04035-2;P04035	.;.;.;HMDH_HUMAN	R	180;111;180;180	ENSP00000426745:G180R;ENSP00000287936:G180R;ENSP00000340816:G180R	ENSP00000287936:G180R	G	+	1	0	HMGCR	74678872	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.767000	0.98960	2.459000	0.83118	0.650000	0.86243	GGA		0.353	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219877.2	0			5:74643116
PCDHA11	56138	broad.mit.edu	37	5	140250312	140250312	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:140250312C>T	ENST00000398640.2	+	1	1624	c.1624C>T	c.(1624-1626)Ccg>Tcg	p.P542S	PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	542	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGGGCGTGCCGCCTCTGAG	0.692																																						ENST00000398640.2		NA																	0				breast(1)|lung(1)	2						c.(1624-1626)Ccg>Tcg									73.0	81.0	78.0					5																	140250312		2202	4298	6500	SO:0001583	missense	0							g.chr5:140250312C>T	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1624C>T	5.37:g.140250312C>T	ENSP00000381636:p.Pro542Ser	False	False		Somatic	0				PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron	p.P542S	NM_018902.3	NP_061725.1	WXS	Illumina HiSeq	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1624	+			NA					B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	c.1624C>T	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.788483	0.70337	.	.	ENSG00000249158	ENST00000398640	T	0.56776	0.44	5.15	5.15	0.70609	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.78698	0.4324	M	0.92026	3.265	0.35643	D	0.811176	D;D	0.89917	1.0;1.0	D;D	0.71414	0.969;0.973	D	0.87476	0.2417	9	0.87932	D	0	.	18.2779	0.90089	0.0:1.0:0.0:0.0	.	542;542	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	S	542	ENSP00000381636:P542S	ENSP00000381636:P542S	P	+	1	0	PCDHA11	140230496	0.999000	0.42202	0.994000	0.49952	0.949000	0.60115	5.585000	0.67497	2.398000	0.81561	0.556000	0.70494	CCG		0.692	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	0	NM_018902		5:140250312
FAM214A	56204	broad.mit.edu	37	15	52879377	52879377	+	Silent	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr15:52879377G>T	ENST00000261844.7	-	11	3000	c.2848C>A	c.(2848-2850)Cga>Aga	p.R950R	RP11-23N2.4_ENST00000562062.1_RNA|RP11-23N2.4_ENST00000566344.1_RNA|FAM214A_ENST00000546305.2_Silent_p.R957R	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	950																	GGAGGTACTCGATAACCCCTT	0.348																																						ENST00000261844.7		NA																	0					NA						c.(2848-2850)Cga>Aga		family with sequence similarity 214, member A							142.0	131.0	134.0					15																	52879377		1841	4084	5925	SO:0001819	synonymous_variant	56204							g.chr15:52879377G>T	AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.2848C>A	15.37:g.52879377G>T		False	False		Somatic	0				RP11-23N2.4_ENST00000566344.1_RNA|FAM214A_ENST00000546305.2_Silent_p.R957R|RP11-23N2.4_ENST00000562062.1_RNA	p.R950R	NM_019600.2	NP_062546.2	WXS	Illumina HiSeq	Phase_I	Q32MH5	K1370_HUMAN			11	3000	-			950					A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Silent	SNP	ENST00000261844.7	37	c.2848C>A	CCDS45263.1																																																																																				0.348	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	0	NM_019600		15:52879377
USP5	8078	broad.mit.edu	37	12	6970156	6970156	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:6970156C>A	ENST00000229268.8	+	12	1436	c.1384C>A	c.(1384-1386)Cgc>Agc	p.R462S	USP5_ENST00000389231.5_Missense_Mutation_p.R462S|USP5_ENST00000541969.1_3'UTR	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	462	USP.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin thiolesterase activity (GO:0004221)|zinc ion binding (GO:0008270)	p.R462S(2)|p.R462C(1)		breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						TGAAGTGTTCCGCTTCTTGGT	0.537																																						ENST00000229268.8		NA																	3	Substitution - Missense(3)	p.R462S(2)|p.R462C(1)	lung(2)|large_intestine(1)	breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						c.(1384-1386)Cgc>Agc		ubiquitin specific peptidase 5 (isopeptidase T)							194.0	197.0	196.0					12																	6970156		2203	4300	6503	SO:0001583	missense	0				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr12:6970156C>A	U35116	CCDS31733.1, CCDS41743.1	12p13	2007-03-02	2005-08-08		ENSG00000111667	ENSG00000111667		"""Ubiquitin-specific peptidases"""	12628	protein-coding gene	gene with protein product		601447	"""ubiquitin specific protease 5 (isopeptidase T)"""			12838346, 8723724	Standard	NM_003481		Approved	IsoT	uc001qri.4	P45974	OTTHUMG00000169233	ENST00000229268.8:c.1384C>A	12.37:g.6970156C>A	ENSP00000229268:p.Arg462Ser	False	False		Somatic	0				USP5_ENST00000541969.1_3'UTR|USP5_ENST00000389231.5_Missense_Mutation_p.R462S	p.R462S	NM_001098536.1	NP_001092006.1	WXS	Illumina HiSeq	Phase_I	P45974	UBP5_HUMAN			12	1436	+			462					D3DUS7|D3DUS8|Q96J22	Missense_Mutation	SNP	ENST00000229268.8	37	c.1384C>A	CCDS41743.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.246490	0.80024	.	.	ENSG00000111667	ENST00000229268;ENST00000389231	T;T	0.30714	1.52;1.52	5.14	5.14	0.70334	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.55513	0.1925	M	0.65677	2.01	0.80722	D	1	D;P	0.89917	1.0;0.593	D;B	0.97110	1.0;0.343	T	0.52064	-0.8625	10	0.42905	T	0.14	-5.2531	18.7977	0.92001	0.0:1.0:0.0:0.0	.	462;462	P45974;P45974-2	UBP5_HUMAN;.	S	462	ENSP00000229268:R462S;ENSP00000373883:R462S	ENSP00000229268:R462S	R	+	1	0	USP5	6840417	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.746000	0.55127	2.666000	0.90696	0.561000	0.74099	CGC		0.537	USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402982.1	0			12:6970156
C8orf34	116328	broad.mit.edu	37	8	69552683	69552683	+	Missense_Mutation	SNP	G	G	A	rs548341726		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr8:69552683G>A	ENST00000539993.1	+	8	1469	c.920G>A	c.(919-921)cGt>cAt	p.R307H	C8orf34_ENST00000337103.4_Missense_Mutation_p.R282H|C8orf34_ENST00000325233.3_Missense_Mutation_p.R51H|C8orf34_ENST00000518698.1_Missense_Mutation_p.R393H			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	307										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			AACCAAGGCCGTCCTACTTAC	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		16058	0.001		0.0	False		,,,				2504	0.0					ENST00000337103.4		NA																	0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36						c.(844-846)cGt>cAt		chromosome 8 open reading frame 34							98.0	90.0	92.0					8																	69552683		2203	4300	6503	SO:0001583	missense	116328				signal transduction		cAMP-dependent protein kinase regulator activity	g.chr8:69552683G>A	AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"""vestibule 1"""						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.920G>A	8.37:g.69552683G>A	ENSP00000438159:p.Arg307His	False	False		Somatic	0				C8orf34_ENST00000518698.1_Missense_Mutation_p.R393H|C8orf34_ENST00000325233.3_Missense_Mutation_p.R51H|C8orf34_ENST00000539993.1_Missense_Mutation_p.R307H	p.R282H			WXS	Illumina HiSeq	Phase_I	Q49A92	CH034_HUMAN	Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)		7	2437	+			307					A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Missense_Mutation	SNP	ENST00000539993.1	37	c.845G>A		.	.	.	.	.	.	.	.	.	.	G	26.0	4.691944	0.88735	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000337103;ENST00000325233	T;T;T;T	0.63913	0.66;0.71;0.7;-0.07	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.77157	0.4089	L	0.56769	1.78	0.52099	D	0.999942	D	0.89917	1.0	D	0.83275	0.996	T	0.75158	-0.3416	9	.	.	.	-10.9267	19.3134	0.94202	0.0:0.0:1.0:0.0	.	307	Q49A92	CH034_HUMAN	H	393;307;282;51	ENSP00000427820:R393H;ENSP00000438159:R307H;ENSP00000337174:R282H;ENSP00000319532:R51H	.	R	+	2	0	C8orf34	69715237	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.376000	0.97181	2.567000	0.86603	0.585000	0.79938	CGT		0.413	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		0	NM_052958		8:69552683
HRNR	388697	broad.mit.edu	37	1	152187633	152187633	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:152187633G>T	ENST00000368801.2	-	3	6547	c.6472C>A	c.(6472-6474)Cgc>Agc	p.R2158S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2158					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACCATAGCGGGAAGACGAA	0.617																																						ENST00000368801.2		NA																	0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(6472-6474)Cgc>Agc		hornerin							344.0	387.0	373.0					1																	152187633		2199	4280	6479	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187633G>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6472C>A	1.37:g.152187633G>T	ENSP00000357791:p.Arg2158Ser	True	False		Somatic	0				FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.R2158S	NM_001009931.1	NP_001009931.1	WXS	Illumina HiSeq	Phase_I	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6547	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2158					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.6472C>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	5.670	0.308182	0.10733	.	.	ENSG00000197915	ENST00000368801	T	0.02656	4.21	3.54	-4.02	0.04034	.	.	.	.	.	T	0.00300	0.0009	N	0.01705	-0.755	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42882	-0.9425	9	0.07482	T	0.82	.	6.7913	0.23701	0.0:0.4926:0.1584:0.349	.	2158	Q86YZ3	HORN_HUMAN	S	2158	ENSP00000357791:R2158S	ENSP00000357791:R2158S	R	-	1	0	HRNR	150454257	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.367000	0.01078	-0.998000	0.03446	-2.058000	0.00401	CGC		0.617	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	0	XM_373868		1:152187633
GABRB1	2560	broad.mit.edu	37	4	47033985	47033985	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr4:47033985C>A	ENST00000295454.3	+	2	427	c.135C>A	c.(133-135)ctC>ctA	p.L45L	GABRB1_ENST00000538619.1_5'UTR|GABRB1_ENST00000509366.1_3'UTR	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	45					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|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)	ACAGATTGCTCAAAGGATATG	0.443																																						ENST00000295454.3		NA																	0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(133-135)ctC>ctA		gamma-aminobutyric acid (GABA) A receptor, beta 1	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						195.0	192.0	193.0					4																	47033985		2203	4300	6503	SO:0001819	synonymous_variant	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47033985C>A		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.135C>A	4.37:g.47033985C>A		True	False		Somatic	0				GABRB1_ENST00000538619.1_5'UTR|GABRB1_ENST00000509366.1_3'UTR	p.L45L	NM_000812.3	NP_000803.2	WXS	Illumina HiSeq	Phase_I	P18505	GBRB1_HUMAN			2	427	+			45					B2R6U7|D6REL3|Q16166|Q8TBK3	Silent	SNP	ENST00000295454.3	37	c.135C>A	CCDS3474.1																																																																																				0.443	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1	0			4:47033985
RABGGTA	5875	broad.mit.edu	37	14	24737795	24737795	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr14:24737795C>A	ENST00000399409.3	-	9	1414	c.931G>T	c.(931-933)Gac>Tac	p.D311Y	RABGGTA_ENST00000559586.1_5'Flank|RABGGTA_ENST00000216840.6_Missense_Mutation_p.D311Y|RABGGTA_ENST00000560777.1_Intron	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	311					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		GGCAACTGGTCGTTGAGGGAG	0.557																																						ENST00000399409.3		NA																	0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12						c.(931-933)Gac>Tac		Rab geranylgeranyltransferase, alpha subunit							91.0	96.0	94.0					14																	24737795		2073	4208	6281	SO:0001583	missense	5875				visual perception		Rab geranylgeranyltransferase activity|zinc ion binding	g.chr14:24737795C>A		CCDS45088.1	14q11.2	2011-06-27				ENSG00000100949		"""Prenyltransferase alpha subunit repeat containing"""	9795	protein-coding gene	gene with protein product	"""protein prenyltransferase alpha subunit repeat containing 3"""	601905				8954794	Standard	NM_182836		Approved	PTAR3	uc001wog.4	Q92696		ENST00000399409.3:c.931G>T	14.37:g.24737795C>A	ENSP00000382341:p.Asp311Tyr	False	False		Somatic	0				RABGGTA_ENST00000560777.1_Intron|RABGGTA_ENST00000216840.6_Missense_Mutation_p.D311Y	p.D311Y	NM_004581.5	NP_004572.3	WXS	Illumina HiSeq	Phase_I	Q92696	PGTA_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	9	1414	-			311					A8K5N2|D3DS69	Missense_Mutation	SNP	ENST00000399409.3	37	c.931G>T	CCDS45088.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.269476	0.40095	.	.	ENSG00000100949	ENST00000216840;ENST00000399409;ENST00000543002	T;T	0.52057	0.68;0.68	5.11	4.22	0.49857	Rab geranylgeranyltransferase, alpha subunit, insert-domain (4);	0.000000	0.85682	D	0.000000	T	0.61489	0.2351	L	0.55481	1.735	0.80722	D	1	D	0.76494	0.999	D	0.69654	0.965	T	0.63804	-0.6554	10	0.59425	D	0.04	-24.6605	13.0558	0.58980	0.0:0.9196:0.0:0.0804	.	311	Q92696	PGTA_HUMAN	Y	311;311;274	ENSP00000216840:D311Y;ENSP00000382341:D311Y	ENSP00000216840:D311Y	D	-	1	0	RABGGTA	23807635	1.000000	0.71417	1.000000	0.80357	0.278000	0.26855	4.232000	0.58645	1.292000	0.44672	-0.448000	0.05591	GAC		0.557	RABGGTA-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415308.5	0	NM_182836		14:24737795
IGLV2-11	28816	broad.mit.edu	37	22	23135323	23135323	+	RNA	SNP	G	G	A	rs546965481	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr22:23135323G>A	ENST00000390314.2	+	0	227				D86998.1_ENST00000385098.1_RNA					immunoglobulin lambda variable 2-11																		CAGCACCCAGGCAAAGCCCCC	0.557																																						ENST00000390314.2		NA																	0					NA															280.0	267.0	271.0					22																	23135323		1965	4143	6108			0							g.chr22:23135323G>A	Z73657		22q11.2	2012-02-08			ENSG00000211668	ENSG00000211668		"""Immunoglobulins / IGL locus"""	5887	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151236		22.37:g.23135323G>A		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	227	+			NA						RNA	SNP	ENST00000390314.2	37																																																																																						0.557	IGLV2-11-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321841.1	0	NG_000002		22:23135323
OBSCN	84033	broad.mit.edu	37	1	228432014	228432014	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:228432014G>T	ENST00000422127.1	+	11	3267	c.3223G>T	c.(3223-3225)Gca>Tca	p.A1075S	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000570156.2_Missense_Mutation_p.A1167S|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.A1075S	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1075	Ig-like 11.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GATGATGTTTGCAAAGGAGCA	0.572																																						ENST00000570156.2		NA																	0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(3499-3501)Gca>Tca		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							97.0	93.0	94.0					1																	228432014		2033	4185	6218	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228432014G>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.3223G>T	1.37:g.228432014G>T	ENSP00000409493:p.Ala1075Ser	True	False		Somatic	0				OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.A1075S|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.A1075S	p.A1167S	NM_001271223.2	NP_001258152.2	WXS	Illumina HiSeq	Phase_I	Q5VST9	OBSCN_HUMAN			12	3573	+		Prostate(94;0.0405)	105			Ig-like 12.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.3499G>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	2.395	-0.338872	0.05243	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.04551	3.6;3.6	3.69	2.78	0.32641	Immunoglobulin-like (1);	0.317255	0.27060	N	0.021125	T	0.04363	0.0120	L	0.39147	1.195	0.80722	D	1	P;B	0.37985	0.613;0.169	B;B	0.41466	0.358;0.049	T	0.40664	-0.9551	10	0.06891	T	0.86	.	6.4866	0.22093	0.3275:0.0:0.6725:0.0	.	1075;1075	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	S	1075	ENSP00000284548:A1075S;ENSP00000409493:A1075S	ENSP00000284548:A1075S	A	+	1	0	OBSCN	226498637	0.000000	0.05858	0.991000	0.47740	0.025000	0.11179	-0.621000	0.05559	0.757000	0.33036	0.455000	0.32223	GCA		0.572	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		0	NM_052843		1:228432014
THUMPD3	25917	broad.mit.edu	37	3	9416208	9416208	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:9416208G>T	ENST00000345094.3	+	5	1150	c.816G>T	c.(814-816)ttG>ttT	p.L272F	THUMPD3_ENST00000515662.2_Missense_Mutation_p.L272F|SETD5-AS1_ENST00000468186.1_RNA|THUMPD3_ENST00000452837.2_Missense_Mutation_p.L272F	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	272	THUMP. {ECO:0000255|PROSITE- ProRule:PRU00529}.					cytoplasm (GO:0005737)|nucleolus (GO:0005730)	methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		AGGTTCTTTTGAACATCCATG	0.393																																						ENST00000345094.3		NA																	0				NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19						c.(814-816)ttG>ttT		THUMP domain containing 3							160.0	150.0	153.0					3																	9416208		2203	4300	6503	SO:0001583	missense	25917						methyltransferase activity|protein binding|RNA binding	g.chr3:9416208G>T	AL117483	CCDS2573.1	3p25.3	2004-06-04			ENSG00000134077	ENSG00000134077			24493	protein-coding gene	gene with protein product						12477932	Standard	NM_015453		Approved	DKFZP434F091	uc003brn.4	Q9BV44	OTTHUMG00000097031	ENST00000345094.3:c.816G>T	3.37:g.9416208G>T	ENSP00000339532:p.Leu272Phe	True	False		Somatic	0				THUMPD3_ENST00000515662.2_Missense_Mutation_p.L272F|SETD5-AS1_ENST00000468186.1_RNA|THUMPD3_ENST00000452837.2_Missense_Mutation_p.L272F	p.L272F	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	WXS	Illumina HiSeq	Phase_I	Q9BV44	THUM3_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.101)	5	1150	+	Medulloblastoma(99;0.227)		272			THUMP.		Q9H8V6|Q9NVC1|Q9UFS3	Missense_Mutation	SNP	ENST00000345094.3	37	c.816G>T	CCDS2573.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	16.68|16.68|16.68	3.190198|3.190198|3.190198	0.58017|0.58017|0.58017	.|.|.	.|.|.	ENSG00000134077|ENSG00000134077|ENSG00000134077	ENST00000416603|ENST00000452837;ENST00000345094;ENST00000515662|ENST00000441127	.|T;T;T|.	.|0.52526|.	.|0.66;0.66;0.66|.	5.57|5.57|5.57	4.7|4.7|4.7	0.59300|0.59300|0.59300	.|THUMP (3);|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	.|T|.	.|0.77624|.	.|0.4158|.	M|M|M	0.88570|0.88570|0.88570	2.965|2.965|2.965	0.58432|0.58432|0.58432	D|D|D	0.999997|0.999997|0.999997	.|D|.	.|0.76494|.	.|0.999|.	.|D|.	.|0.83275|.	.|0.996|.	.|T|.	.|0.80111|.	.|-0.1519|.	.|10|.	.|0.40728|.	.|T|.	.|0.16|.	-16.9958|-16.9958|-16.9958	10.3831|10.3831|10.3831	0.44123|0.44123|0.44123	0.0738:0.1354:0.7908:0.0|0.0738:0.1354:0.7908:0.0|0.0738:0.1354:0.7908:0.0	.|.|.	.|272|.	.|Q9BV44|.	.|THUM3_HUMAN|.	X|F|L	105|272|129	.|ENSP00000395893:L272F;ENSP00000339532:L272F;ENSP00000424064:L272F|.	.|ENSP00000339532:L272F|.	E|L|X	+|+|+	1|3|2	0|2|2	THUMPD3|THUMPD3|THUMPD3	9391208|9391208|9391208	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.698000|0.698000|0.698000	0.40448|0.40448|0.40448	1.299000|1.299000|1.299000	0.33424|0.33424|0.33424	1.347000|1.347000|1.347000	0.45714|0.45714|0.45714	0.585000|0.585000|0.585000	0.79938|0.79938|0.79938	GAA|TTG|TGA		0.393	THUMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214127.1	0	NM_015453		3:9416208
MLH3	27030	broad.mit.edu	37	14	75515338	75515338	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr14:75515338G>T	ENST00000556740.1	-	1	1056	c.1021C>A	c.(1021-1023)Cag>Aag	p.Q341K	MLH3_ENST00000556257.1_Missense_Mutation_p.Q341K|MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000555671.1_5'Flank|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000355774.2_Missense_Mutation_p.Q341K|MLH3_ENST00000238662.7_Missense_Mutation_p.Q341K			Q9UHC1	MLH3_HUMAN	mutL homolog 3	341					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		ACTCCTTCCTGAATGCAAAAC	0.343								Mismatch excision repair (MMR)																														ENST00000355774.2		NA																	0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1021-1023)Cag>Aag	Mismatch excision repair (MMR)	mutL homolog 3							66.0	67.0	67.0					14																	75515338		2203	4299	6502	SO:0001583	missense	27030				mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	g.chr14:75515338G>T	AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.1021C>A	14.37:g.75515338G>T	ENSP00000452316:p.Gln341Lys	True	False		Somatic	0				MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000238662.7_Missense_Mutation_p.Q341K|MLH3_ENST00000556740.1_Missense_Mutation_p.Q341K|MLH3_ENST00000556257.1_Missense_Mutation_p.Q341K	p.Q341K	NM_001040108.1	NP_001035197.1	WXS	Illumina HiSeq	Phase_I	Q9UHC1	MLH3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00688)	2	1236	-			341					P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	ENST00000556740.1	37	c.1021C>A	CCDS32123.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.552631	0.45487	.	.	ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	5.75	4.81	0.61882	Ribosomal protein S5 domain 2-type fold (1);DNA mismatch repair protein, C-terminal (1);	0.054424	0.64402	D	0.000001	D	0.85173	0.5636	L	0.52126	1.63	0.80722	D	1	D;D	0.56287	0.975;0.973	P;P	0.55749	0.573;0.783	D	0.85052	0.0929	10	0.49607	T	0.09	-8.2283	13.6674	0.62405	0.0:0.3268:0.6732:0.0	.	341;341	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	K	341	ENSP00000348020:Q341K;ENSP00000238662:Q341K;ENSP00000451540:Q341K;ENSP00000452316:Q341K	ENSP00000238662:Q341K	Q	-	1	0	MLH3	74585091	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.724000	0.74747	2.716000	0.92895	0.655000	0.94253	CAG		0.343	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	0	NM_014381		14:75515338
ZNF160	90338	broad.mit.edu	37	19	53577428	53577428	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:53577428G>T	ENST00000429604.1	-	6	651	c.236C>A	c.(235-237)cCa>cAa	p.P79Q	ZNF160_ENST00000601421.1_Missense_Mutation_p.P43Q|ZNF160_ENST00000418871.1_Missense_Mutation_p.P79Q|ZNF160_ENST00000355147.5_Missense_Mutation_p.P79Q|ZNF160_ENST00000599056.1_Missense_Mutation_p.P79Q|ZNF160_ENST00000599729.1_5'Flank	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	79	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				hemopoiesis (GO:0030097)|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)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		CGGCGTTCTTGGTTTTCTTGC	0.473																																						ENST00000601421.1		NA																	0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						c.(127-129)cCa>cAa		zinc finger protein 160							195.0	166.0	176.0					19																	53577428		2203	4300	6503	SO:0001583	missense	90338				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53577428G>T	X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"""Zinc fingers, C2H2-type"", ""-"""	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.236C>A	19.37:g.53577428G>T	ENSP00000406201:p.Pro79Gln	False	False		Somatic	0				ZNF160_ENST00000355147.5_Missense_Mutation_p.P79Q|ZNF160_ENST00000418871.1_Missense_Mutation_p.P79Q|ZNF160_ENST00000429604.1_Missense_Mutation_p.P79Q|ZNF160_ENST00000599056.1_Missense_Mutation_p.P79Q	p.P43Q			WXS	Illumina HiSeq	Phase_I	Q9HCG1	ZN160_HUMAN		GBM - Glioblastoma multiforme(134;0.02)	2	1004	-			79			KRAB.		Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Missense_Mutation	SNP	ENST00000429604.1	37	c.128C>A	CCDS12859.1	.	.	.	.	.	.	.	.	.	.	G	8.875	0.950181	0.18431	.	.	ENSG00000170949	ENST00000429604;ENST00000418871;ENST00000355147	T;T;T	0.08102	3.13;3.13;5.47	1.96	0.634	0.17718	Krueppel-associated box (1);	.	.	.	.	T	0.09335	0.0230	L	0.56340	1.77	0.09310	N	1	B;P	0.42757	0.409;0.789	B;B	0.41135	0.184;0.348	T	0.21552	-1.0242	9	0.87932	D	0	.	5.804	0.18430	0.0:0.0:0.5984:0.4016	.	79;79	Q9BVY9;Q9HCG1	.;ZN160_HUMAN	Q	79	ENSP00000406201:P79Q;ENSP00000409597:P79Q;ENSP00000347273:P79Q	ENSP00000347273:P79Q	P	-	2	0	ZNF160	58269240	0.007000	0.16637	0.002000	0.10522	0.045000	0.14185	0.725000	0.25970	0.193000	0.20303	0.555000	0.69702	CCA		0.473	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463994.2	0	NM_033288		19:53577428
RNF38	152006	broad.mit.edu	37	9	36339793	36339793	+	Missense_Mutation	SNP	T	T	C	rs200434728		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr9:36339793T>C	ENST00000259605.6	-	12	1611	c.1504A>G	c.(1504-1506)Att>Gtt	p.I502V	RNF38_ENST00000357058.3_Missense_Mutation_p.I419V|RNF38_ENST00000377877.4_Missense_Mutation_p.I426V|RNF38_ENST00000377885.2_Missense_Mutation_p.I419V|RNF38_ENST00000350199.4_Missense_Mutation_p.I419V|RNF38_ENST00000353739.4_Missense_Mutation_p.I452V	NM_022781.4	NP_073618.3	Q9H0F5	RNF38_HUMAN	ring finger protein 38	502					male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)|sperm flagellum (GO:0036126)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			GCTCGGCAAATTGGGCAAGTA	0.378																																						ENST00000357058.3		NA																	0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11						c.(1255-1257)Att>Gtt		ring finger protein 38							107.0	81.0	90.0					9																	36339793		2203	4300	6503	SO:0001583	missense	152006						zinc ion binding	g.chr9:36339793T>C		CCDS6603.1, CCDS6604.1	9p	2013-01-09			ENSG00000137075	ENSG00000137075		"""RING-type (C3HC4) zinc fingers"""	18052	protein-coding gene	gene with protein product		612488					Standard	XM_005251364		Approved		uc003zzh.3	Q9H0F5	OTTHUMG00000019905	ENST00000259605.6:c.1504A>G	9.37:g.36339793T>C	ENSP00000259605:p.Ile502Val	True	False		Somatic	0				RNF38_ENST00000259605.6_Missense_Mutation_p.I502V|RNF38_ENST00000353739.4_Missense_Mutation_p.I452V|RNF38_ENST00000377877.4_Missense_Mutation_p.I426V|RNF38_ENST00000377885.2_Missense_Mutation_p.I419V|RNF38_ENST00000350199.4_Missense_Mutation_p.I419V	p.I419V	NM_194328.2	NP_919309.1	WXS	Illumina HiSeq	Phase_I	Q9H0F5	RNF38_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		12	1861	-			502					A6PVP9|B1AM81|B1AM82|B3KSG4|E7EVL3|Q7LB33|Q8N0Y0|Q9H748	Missense_Mutation	SNP	ENST00000259605.6	37	c.1255A>G	CCDS6603.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	T	14.75	2.629377	0.46944	.	.	ENSG00000137075	ENST00000259605;ENST00000353739;ENST00000377885;ENST00000357058;ENST00000350199;ENST00000377876;ENST00000377870;ENST00000377877	T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05	5.55	5.55	0.83447	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, RING-H2-type (1);	0.000000	0.85682	D	0.000000	T	0.39545	0.1082	N	0.03948	-0.315	0.80722	D	1	P;B;P	0.48911	0.917;0.124;0.904	D;B;D	0.64321	0.924;0.344;0.924	T	0.52275	-0.8597	10	0.48119	T	0.1	-7.5111	13.6403	0.62246	0.0:0.0:0.0:1.0	.	426;452;502	B1AM81;Q9H0F5-2;Q9H0F5	.;.;RNF38_HUMAN	V	502;452;419;419;419;319;426;426	ENSP00000259605:I502V;ENSP00000335239:I452V;ENSP00000367117:I419V;ENSP00000349566:I419V;ENSP00000343947:I419V;ENSP00000367109:I426V	ENSP00000259605:I502V	I	-	1	0	RNF38	36329793	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.381000	0.79718	2.096000	0.63516	0.533000	0.62120	ATT		0.378	RNF38-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052422.3	0	NM_022781		9:36339793
VPS13A	23230	broad.mit.edu	37	9	79966298	79966298	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr9:79966298C>A	ENST00000360280.3	+	53	7615	c.7355C>A	c.(7354-7356)cCg>cAg	p.P2452Q	VPS13A_ENST00000357409.5_Missense_Mutation_p.P2452Q|VPS13A_ENST00000376634.4_Missense_Mutation_p.P2452Q|VPS13A_ENST00000376636.3_Missense_Mutation_p.P2413Q	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2452					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGGGCTGATCCGGTGGGCTCT	0.433																																						ENST00000360280.3		NA																	0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(7354-7356)cCg>cAg		vacuolar protein sorting 13 homolog A (S. cerevisiae)							166.0	163.0	164.0					9																	79966298		2203	4300	6503	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79966298C>A	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.7355C>A	9.37:g.79966298C>A	ENSP00000353422:p.Pro2452Gln	False	False		Somatic	0				VPS13A_ENST00000357409.5_Missense_Mutation_p.P2452Q|VPS13A_ENST00000376634.4_Missense_Mutation_p.P2452Q|VPS13A_ENST00000376636.3_Missense_Mutation_p.P2413Q	p.P2452Q	NM_033305.2	NP_150648.2	WXS	Illumina HiSeq	Phase_I	Q96RL7	VP13A_HUMAN			53	7615	+			2452					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.7355C>A	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.532140	0.85812	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	5.49	5.49	0.81192	Vacuolar protein sorting-associated protein (1);	0.068668	0.64402	D	0.000010	D	0.82765	0.5108	M	0.87456	2.885	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.998;0.998	D	0.85611	0.1258	10	0.87932	D	0	.	18.9616	0.92679	0.0:1.0:0.0:0.0	.	2413;2452;2452;2452	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	Q	2452;2413;2452;2452	ENSP00000365821:P2452Q;ENSP00000365823:P2413Q;ENSP00000353422:P2452Q;ENSP00000349985:P2452Q	ENSP00000349985:P2452Q	P	+	2	0	VPS13A	79156118	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	6.178000	0.71968	2.563000	0.86464	0.555000	0.69702	CCG		0.433	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	0	NM_015186		9:79966298
MAGI3	260425	broad.mit.edu	37	1	114184571	114184571	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:114184571G>T	ENST00000307546.9	+	10	1474	c.1399G>T	c.(1399-1401)Ggt>Tgt	p.G467C	MAGI3_ENST00000369615.1_Missense_Mutation_p.G467C|MAGI3_ENST00000369617.4_Missense_Mutation_p.G492C|MAGI3_ENST00000369611.4_Missense_Mutation_p.G467C	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	492	Interaction with PTEN.|PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGTGTCCTCGGTCACACTCA	0.358																																						ENST00000369615.1		NA																	0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(1399-1401)Ggt>Tgt		membrane associated guanylate kinase, WW and PDZ domain containing 3							171.0	152.0	158.0					1																	114184571		2203	4300	6503	SO:0001583	missense	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114184571G>T	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.1399G>T	1.37:g.114184571G>T	ENSP00000304604:p.Gly467Cys	False	False		Somatic	0				MAGI3_ENST00000307546.9_Missense_Mutation_p.G467C|MAGI3_ENST00000369611.4_Missense_Mutation_p.G467C|MAGI3_ENST00000369617.4_Missense_Mutation_p.G492C	p.G467C	NM_152900.2	NP_690864.2	WXS	Illumina HiSeq	Phase_I	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	10	1461	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	492			Interaction with PTEN.|PDZ 2.		Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	ENST00000307546.9	37	c.1399G>T	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.456418	0.84317	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.83317	0.5228	H	0.98918	4.37	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.89889	0.4036	10	0.87932	D	0	-28.5003	19.4992	0.95086	0.0:0.0:1.0:0.0	.	467;467;492	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	C	492;467;467;467	ENSP00000358630:G492C;ENSP00000304604:G467C;ENSP00000358628:G467C;ENSP00000358624:G467C	ENSP00000304604:G467C	G	+	1	0	MAGI3	113986094	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	9.420000	0.97426	2.689000	0.91719	0.655000	0.94253	GGT		0.358	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	0	NM_152900		1:114184571
MYBL2	4605	broad.mit.edu	37	20	42338663	42338663	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr20:42338663C>A	ENST00000217026.4	+	10	1693	c.1566C>A	c.(1564-1566)ttC>ttA	p.F522L	MYBL2_ENST00000396863.4_Missense_Mutation_p.F498L	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	522					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CAACCCCGTTCAAGAACGCCC	0.587																																						ENST00000217026.4		NA																	0				endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46						c.(1564-1566)ttC>ttA		v-myb avian myeloblastosis viral oncogene homolog-like 2							189.0	187.0	187.0					20																	42338663		2203	4300	6503	SO:0001583	missense	4605					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:42338663C>A		CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.1566C>A	20.37:g.42338663C>A	ENSP00000217026:p.Phe522Leu	False	False		Somatic	0				MYBL2_ENST00000396863.4_Missense_Mutation_p.F498L	p.F522L	NM_002466.2	NP_002457.1	WXS	Illumina HiSeq	Phase_I	P10244	MYBB_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		10	1693	+		Myeloproliferative disorder(115;0.00452)	522					B2RBS5|B7Z8D9|F8W6N6|Q53F07	Missense_Mutation	SNP	ENST00000217026.4	37	c.1566C>A	CCDS13322.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803233	0.70682	.	.	ENSG00000101057	ENST00000396863;ENST00000217026	T;T	0.61274	0.12;0.12	4.86	3.92	0.45320	C-myb, C-terminal (1);	0.055487	0.85682	D	0.000000	T	0.74114	0.3674	M	0.84082	2.675	0.58432	D	0.999991	P;D	0.76494	0.7;0.999	B;D	0.79108	0.372;0.992	T	0.75783	-0.3196	10	0.62326	D	0.03	-25.04	8.884	0.35392	0.0:0.8249:0.0:0.1751	.	498;522	F8W6N6;P10244	.;MYBB_HUMAN	L	498;522	ENSP00000380072:F498L;ENSP00000217026:F522L	ENSP00000217026:F522L	F	+	3	2	MYBL2	41772077	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	1.304000	0.33482	1.197000	0.43143	0.467000	0.42956	TTC		0.587	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	0	NM_002466		20:42338663
ZNF30	90075	broad.mit.edu	37	19	35434709	35434709	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:35434709G>T	ENST00000601142.1	+	5	1076	c.839G>T	c.(838-840)cGa>cTa	p.R280L	ZNF30_ENST00000426813.2_Missense_Mutation_p.R199L|ZNF30_ENST00000303586.7_Missense_Mutation_p.R281L|ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000439785.1_Missense_Mutation_p.R281L			P17039	ZNF30_HUMAN	zinc finger protein 30	280					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)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		CAACATCAGCGAATTCATACC	0.473																																						ENST00000439785.1		NA																	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16						c.(841-843)cGa>cTa		zinc finger protein 30							75.0	85.0	82.0					19																	35434709		2185	4290	6475	SO:0001583	missense	90075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35434709G>T	X52359	CCDS46044.1, CCDS46045.1	19q13.13	2013-01-08	2006-05-10			ENSG00000168661		"""Zinc fingers, C2H2-type"", ""-"""	13090	protein-coding gene	gene with protein product			"""zinc finger protein 30 (KOX 28)"""				Standard	NM_001099437		Approved	KOX28, DKFZp686N19164, FLJ20562	uc010edq.1	P17039		ENST00000601142.1:c.839G>T	19.37:g.35434709G>T	ENSP00000469954:p.Arg280Leu	False	False		Somatic	0				ZNF30_ENST00000303586.7_Missense_Mutation_p.R281L|ZNF30_ENST00000426813.2_Missense_Mutation_p.R199L|ZNF30_ENST00000601142.1_Missense_Mutation_p.R280L|ZNF30_ENST00000601957.1_3'UTR	p.R281L	NM_001099438.1	NP_001092908.1	WXS	Illumina HiSeq	Phase_I	P17039	ZNF30_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)	5	1286	+	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		280					A5PLP1|A8K320|B4DIC0|Q6N068	Missense_Mutation	SNP	ENST00000601142.1	37	c.842G>T	CCDS46045.1	.	.	.	.	.	.	.	.	.	.	g	12.92	2.082696	0.36758	.	.	ENSG00000168661	ENST00000439785;ENST00000303586;ENST00000426813;ENST00000342559	T;T	0.25085	1.82;1.82	2.01	0.941	0.19519	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19565	0.0470	L	0.53617	1.68	0.22401	N	0.999136	P;P	0.49358	0.923;0.844	B;B	0.37144	0.242;0.2	T	0.20438	-1.0275	9	0.62326	D	0.03	.	6.149	0.20301	0.1854:0.0:0.8146:0.0	.	281;280	P17039-2;P17039	.;ZNF30_HUMAN	L	281;280;199;17	ENSP00000403441:R281L;ENSP00000416457:R199L	ENSP00000303889:R280L	R	+	2	0	ZNF30	40126549	0.002000	0.14202	0.016000	0.15963	0.100000	0.18952	1.241000	0.32743	1.121000	0.41925	0.404000	0.27445	CGA		0.473	ZNF30-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464432.1	0	NM_194325		19:35434709
TMEM248	55069	broad.mit.edu	37	7	66418350	66418350	+	Silent	SNP	C	C	A	rs375502371		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr7:66418350C>A	ENST00000341567.4	+	6	1173	c.918C>A	c.(916-918)ccC>ccA	p.P306P		NM_017994.4	NP_060464.1	Q9NWD8	TM248_HUMAN	transmembrane protein 248	306						integral component of membrane (GO:0016021)		p.P306P(1)									AATTTTGTCCCGAGAAGGTGA	0.453																																						ENST00000341567.4		NA																	1	Substitution - coding silent(1)	p.P306P(1)	lung(1)		NA						c.(916-918)ccC>ccA		transmembrane protein 248							160.0	154.0	156.0					7																	66418350		2203	4300	6503	SO:0001819	synonymous_variant	55069							g.chr7:66418350C>A		CCDS5536.1	7q11.21	2012-05-30	2012-05-30	2012-05-30	ENSG00000106609	ENSG00000106609			25476	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 42"""	C7orf42		12477932	Standard	XM_005250482		Approved	FLJ10099, FLJ13090	uc003tvk.3	Q9NWD8	OTTHUMG00000129553	ENST00000341567.4:c.918C>A	7.37:g.66418350C>A		True	False		Somatic	0					p.P306P	NM_017994.4	NP_060464.1	WXS	Illumina HiSeq	Phase_I					6	1173	+			NA					Q53H07|Q96FR2	Silent	SNP	ENST00000341567.4	37	c.918C>A	CCDS5536.1																																																																																				0.453	TMEM248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251745.2	0	NM_017994		7:66418350
LUZP4	51213	broad.mit.edu	37	X	114540856	114540856	+	Silent	SNP	G	G	A	rs148942179		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chrX:114540856G>A	ENST00000371920.3	+	4	436	c.429G>A	c.(427-429)ccG>ccA	p.P143P	LUZP4_ENST00000451986.2_Silent_p.P61P	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	143						nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						AAGGAAATCCGGACAAATCAG	0.473																																						ENST00000371920.3		NA																	0				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						c.(427-429)ccG>ccA		leucine zipper protein 4		G		0,3835		0,0,1632,571	85.0	80.0	82.0		429	-2.5	0.0	X	dbSNP_134	82	2,6726		0,2,2426,1872	no	coding-synonymous	LUZP4	NM_016383.3		0,2,4058,2443	AA,AG,GG,G		0.0297,0.0,0.0189		143/314	114540856	2,10561	2203	4300	6503	SO:0001819	synonymous_variant	51213					nucleus		g.chrX:114540856G>A	AF124430	CCDS14567.1	Xq24	2009-03-25			ENSG00000102021	ENSG00000102021			24971	protein-coding gene	gene with protein product	"""cancer/testis antigen 28"""	300616				12032826, 11051238	Standard	XM_005268343		Approved	HOM-TES-85, CT-8, CT28	uc004eqa.3	Q9P127	OTTHUMG00000022234	ENST00000371920.3:c.429G>A	X.37:g.114540856G>A		False	False		Somatic	0				LUZP4_ENST00000451986.2_Silent_p.P61P	p.P143P	NM_016383.3	NP_057467.1	WXS	Illumina HiSeq	Phase_I	Q9P127	LUZP4_HUMAN			4	436	+			143					B3KSD6	Silent	SNP	ENST00000371920.3	37	c.429G>A	CCDS14567.1																																																																																				0.473	LUZP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057972.1	0	NM_016383		X:114540856
DNAJB14	79982	broad.mit.edu	37	4	100830014	100830014	+	Missense_Mutation	SNP	T	T	C			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr4:100830014T>C	ENST00000442697.2	-	4	645	c.491A>G	c.(490-492)aAg>aGg	p.K164R		NM_001031723.2|NM_001278310.1	NP_001026893.1|NP_001265239.1	Q8TBM8	DJB14_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 14	164	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)		CTGTTTTCGCTTTTCTGGATT	0.353																																						ENST00000442697.2		NA																	0				kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5						c.(490-492)aAg>aGg		DnaJ (Hsp40) homolog, subfamily B, member 14							95.0	90.0	92.0					4																	100830014		2202	4299	6501	SO:0001583	missense	79982				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr4:100830014T>C	BC022248	CCDS34035.1, CCDS75171.1	4q23	2011-09-02			ENSG00000164031	ENSG00000164031		"""Heat shock proteins / DNAJ (HSP40)"""	25881	protein-coding gene	gene with protein product							Standard	NM_001031723		Approved	FLJ14281	uc003hvl.4	Q8TBM8	OTTHUMG00000131049	ENST00000442697.2:c.491A>G	4.37:g.100830014T>C	ENSP00000404381:p.Lys164Arg	True	False		Somatic	0					p.K164R	NM_001031723.2|NM_001278310.1	NP_001026893.1|NP_001265239.1	WXS	Illumina HiSeq	Phase_I	Q8TBM8	DJB14_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)	4	645	-			164			J.		Q6UXN1|Q7Z3P0|Q86TA7|Q86TM0|Q9GZU9	Missense_Mutation	SNP	ENST00000442697.2	37	c.491A>G	CCDS34035.1	.	.	.	.	.	.	.	.	.	.	T	31	5.079506	0.94050	.	.	ENSG00000164031	ENST00000442697	T	0.35973	1.28	5.8	5.8	0.92144	Heat shock protein DnaJ, N-terminal (5);Heat shock protein DnaJ, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.46483	0.1395	N	0.20685	0.6	0.80722	D	1	D;D	0.71674	0.994;0.998	D;D	0.78314	0.954;0.991	T	0.50608	-0.8808	10	0.62326	D	0.03	.	16.1549	0.81657	0.0:0.0:0.0:1.0	.	164;79	Q8TBM8;Q8TBM8-2	DJB14_HUMAN;.	R	164	ENSP00000404381:K164R	ENSP00000404381:K164R	K	-	2	0	DNAJB14	101049037	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.490000	0.81461	2.209000	0.71365	0.533000	0.62120	AAG		0.353	DNAJB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253696.2	0	NM_001031723.2		4:100830014
TINAG	27283	broad.mit.edu	37	6	54254663	54254663	+	Silent	SNP	C	C	A	rs139720660	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr6:54254663C>A	ENST00000259782.4	+	11	1467	c.1371C>A	c.(1369-1371)tcC>tcA	p.S457S		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	457					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TAAATGAGTCCGACATTGAAA	0.398																																						ENST00000259782.4		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34						c.(1369-1371)tcC>tcA		tubulointerstitial nephritis antigen							143.0	139.0	141.0					6																	54254663		2203	4300	6503	SO:0001819	synonymous_variant	27283				cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	g.chr6:54254663C>A	AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.1371C>A	6.37:g.54254663C>A		False	False		Somatic	0					p.S457S	NM_014464.3	NP_055279.3	WXS	Illumina HiSeq	Phase_I	Q9UJW2	TINAG_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.246)		11	1467	+	Lung NSC(77;0.0518)		457					Q5T467|Q9UJW1|Q9ULZ4	Silent	SNP	ENST00000259782.4	37	c.1371C>A	CCDS4955.1																																																																																				0.398	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	0	NM_014464		6:54254663
TRAJ45	28710	broad.mit.edu	37	14	22965873	22965873	+	RNA	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr14:22965873G>T	ENST00000390492.1	+	0	66				TRAJ43_ENST00000390494.1_RNA|TRAJ44_ENST00000390493.1_RNA|TRAJ42_ENST00000390495.1_RNA|TRAJ40_ENST00000390497.1_RNA|TRAJ41_ENST00000390496.1_RNA					T cell receptor alpha joining 45																		AGGACTGTGTGAATTATGGAG	0.453																																						ENST00000390495.1		NA																	0					NA															132.0	128.0	129.0					14																	22965873		1844	4100	5944			0							g.chr14:22965873G>T	M94081		14q11.2	2012-02-07			ENSG00000211844	ENSG00000211844		"""T cell receptors / TRA locus"""	12076	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000170922		14.37:g.22965873G>T		True	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	2	+			NA						RNA	SNP	ENST00000390492.1	37																																																																																						0.453	TRAJ45-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	TR_J_gene	TR_J_gene	OTTHUMT00000410953.1	0	NG_001332		14:22965873
CCDC157	550631	broad.mit.edu	37	22	30766541	30766541	+	Missense_Mutation	SNP	C	C	T	rs536552530		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr22:30766541C>T	ENST00000405659.1	+	5	1356	c.647C>T	c.(646-648)aCg>aTg	p.T216M	CCDC157_ENST00000338306.3_Missense_Mutation_p.T216M			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	216										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						ACCATTGAGACGGCCCTGGTG	0.622													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20139	0.0		0.0	False		,,,				2504	0.0					ENST00000405659.1		NA																	0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						c.(646-648)aCg>aTg		coiled-coil domain containing 157							92.0	81.0	84.0					22																	30766541		2203	4300	6503	SO:0001583	missense	550631							g.chr22:30766541C>T	BC018040	CCDS33632.2	22q12.2	2009-03-05			ENSG00000187860	ENSG00000187860			33854	protein-coding gene	gene with protein product							Standard	NM_001017437		Approved		uc011aku.2	Q569K6	OTTHUMG00000151007	ENST00000405659.1:c.647C>T	22.37:g.30766541C>T	ENSP00000385357:p.Thr216Met	False	False		Somatic	0				CCDC157_ENST00000338306.3_Missense_Mutation_p.T216M	p.T216M			WXS	Illumina HiSeq	Phase_I	Q569K6	CC157_HUMAN			5	1356	+			216					Q0VD76|Q9BYA4	Missense_Mutation	SNP	ENST00000405659.1	37	c.647C>T	CCDS33632.2	.	.	.	.	.	.	.	.	.	.	C	28.9	4.961385	0.92791	.	.	ENSG00000187860	ENST00000405659;ENST00000338306	T;T	0.32515	1.45;1.45	5.54	5.54	0.83059	.	0.129526	0.53938	D	0.000060	T	0.55273	0.1910	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.54490	-0.8286	10	0.87932	D	0	-22.7807	19.2866	0.94077	0.0:1.0:0.0:0.0	.	216	Q569K6	CC157_HUMAN	M	216	ENSP00000385357:T216M;ENSP00000343087:T216M	ENSP00000343087:T216M	T	+	2	0	CCDC157	29096541	1.000000	0.71417	0.959000	0.39883	0.856000	0.48823	7.005000	0.76323	2.884000	0.98904	0.655000	0.94253	ACG		0.622	CCDC157-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320936.1	0	NM_001017437		22:30766541
PDZRN3	23024	broad.mit.edu	37	3	73432928	73432928	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:73432928G>A	ENST00000263666.4	-	10	2903	c.2789C>T	c.(2788-2790)aCg>aTg	p.T930M	PDZRN3_ENST00000479530.1_Missense_Mutation_p.T647M|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000462146.2_Missense_Mutation_p.T587M|PDZRN3_ENST00000535920.1_Missense_Mutation_p.T652M|PDZRN3_ENST00000466780.1_Missense_Mutation_p.T587M	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	930					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GATGTAGCGCGTCCCGTCGCT	0.672																																						ENST00000263666.4		NA																	0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(2788-2790)aCg>aTg		PDZ domain containing ring finger 3							35.0	35.0	35.0					3																	73432928		2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73432928G>A	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2789C>T	3.37:g.73432928G>A	ENSP00000263666:p.Thr930Met	False	False		Somatic	0				PDZRN3_ENST00000466780.1_Missense_Mutation_p.T587M|PDZRN3_ENST00000479530.1_Missense_Mutation_p.T647M|PDZRN3_ENST00000535920.1_Missense_Mutation_p.T652M|PDZRN3_ENST00000462146.2_Missense_Mutation_p.T587M	p.T930M	NM_015009.1	NP_055824.1	WXS	Illumina HiSeq	Phase_I	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	2903	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	930					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.2789C>T	CCDS33789.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.5|21.5	4.162279|4.162279	0.78226|0.78226	.|.	.|.	ENSG00000121440|ENSG00000121440	ENST00000494559|ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530	.|T;T;T;T;T	.|0.45276	.|0.9;0.9;0.9;0.9;0.9	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	.|0.150407	.|0.64402	.|D	.|0.000015	T|T	0.68274|0.68274	0.2983|0.2983	M|M	0.80982|0.80982	2.52|2.52	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;P;D;D	.|0.75484	.|0.986;0.874;0.957;0.911	T|T	0.72717|0.72717	-0.4209|-0.4209	5|10	.|0.87932	.|D	.|0	.|.	18.7949|18.7949	0.91990|0.91990	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|652;647;647;930	.|F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.|.;.;.;PZRN3_HUMAN	C|M	246|930;652;587;587;647	.|ENSP00000263666:T930M;ENSP00000442026:T652M;ENSP00000418168:T587M;ENSP00000418484:T587M;ENSP00000418624:T647M	.|ENSP00000263666:T930M	R|T	-|-	1|2	0|0	PDZRN3|PDZRN3	73515618|73515618	1.000000|1.000000	0.71417|0.71417	0.964000|0.964000	0.40570|0.40570	0.915000|0.915000	0.54546|0.54546	7.532000|7.532000	0.81985|0.81985	2.522000|2.522000	0.85027|0.85027	0.655000|0.655000	0.94253|0.94253	CGC|ACG		0.672	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	0	XM_041363		3:73432928
FASTK	10922	broad.mit.edu	37	7	150775665	150775665	+	Missense_Mutation	SNP	G	G	A	rs377740282		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr7:150775665G>A	ENST00000297532.6	-	4	886	c.809C>T	c.(808-810)aCg>aTg	p.T270M	FASTK_ENST00000353841.2_Missense_Mutation_p.T129M|FASTK_ENST00000489884.1_5'UTR|FASTK_ENST00000482571.1_Missense_Mutation_p.T243M|FASTK_ENST00000540185.1_Intron|RP11-148K1.12_ENST00000485974.1_RNA	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	270					apoptotic signaling pathway (GO:0097190)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|Fas-activated serine/threonine kinase activity (GO:0033867)|protein serine/threonine kinase activity (GO:0004674)			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		GCTGAGTTGCGTTTCCTGAAC	0.642																																						ENST00000297532.6		NA																	0				lung(4)|stomach(2)	6						c.(808-810)aCg>aTg		Fas-activated serine/threonine kinase		G	MET/THR,MET/THR	0,4406		0,0,2203	58.0	60.0	59.0		809,386	0.7	1.0	7		59	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FASTK	NM_006712.3,NM_033015.2	81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	270/550,129/409	150775665	1,13005	2203	4300	6503	SO:0001583	missense	10922				apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding	g.chr7:150775665G>A		CCDS5918.1, CCDS5919.1, CCDS59088.1	7q35	2006-07-06			ENSG00000164896	ENSG00000164896			24676	protein-coding gene	gene with protein product		606965				7544399, 15572676	Standard	NM_006712		Approved	FAST	uc003wix.2	Q14296	OTTHUMG00000158694	ENST00000297532.6:c.809C>T	7.37:g.150775665G>A	ENSP00000297532:p.Thr270Met	True	False		Somatic	0				FASTK_ENST00000353841.2_Missense_Mutation_p.T129M|FASTK_ENST00000540185.1_Intron|FASTK_ENST00000489884.1_5'UTR|FASTK_ENST00000482571.1_Missense_Mutation_p.T243M	p.T270M	NM_006712.4	NP_006703.1	WXS	Illumina HiSeq	Phase_I	Q14296	FASTK_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)	4	886	-			270					A8K867|F8VTW9|Q59EM8|Q8IVA0	Missense_Mutation	SNP	ENST00000297532.6	37	c.809C>T	CCDS5918.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.657389	0.29425	0.0	1.16E-4	ENSG00000164896	ENST00000483105;ENST00000297530;ENST00000353841;ENST00000297532;ENST00000482571	T;T;T	0.30448	1.94;1.94;1.53	4.75	0.664	0.17890	.	0.729997	0.12332	N	0.478305	T	0.11793	0.0287	N	0.08118	0	0.80722	D	1	P;B;B	0.47545	0.897;0.002;0.0	B;B;B	0.37091	0.241;0.001;0.0	T	0.10660	-1.0620	10	0.56958	D	0.05	6.7165	3.399	0.07316	0.0809:0.2673:0.3781:0.2737	.	243;129;270	F8VTW9;Q8IVA0;Q14296	.;.;FASTK_HUMAN	M	270;270;129;270;243	ENSP00000324817:T129M;ENSP00000297532:T270M;ENSP00000418516:T243M	ENSP00000297530:T270M	T	-	2	0	FASTK	150406598	1.000000	0.71417	0.964000	0.40570	0.859000	0.49053	1.929000	0.40114	0.003000	0.14656	-0.152000	0.13540	ACG		0.642	FASTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351832.2	0	NM_006712		7:150775665
GLRA1	2741	broad.mit.edu	37	5	151208531	151208531	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:151208531C>A	ENST00000455880.2	-	8	1296	c.1010G>T	c.(1009-1011)cGg>cTg	p.R337L	GLRA1_ENST00000274576.4_Missense_Mutation_p.R337L|GLRA1_ENST00000545569.1_Missense_Mutation_p.R254L			P23415	GLRA1_HUMAN	glycine receptor, alpha 1	337					acrosome reaction (GO:0007340)|action potential (GO:0001508)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|muscle contraction (GO:0006936)|negative regulation of transmission of nerve impulse (GO:0051970)|neuromuscular process controlling posture (GO:0050884)|neuropeptide signaling pathway (GO:0007218)|positive regulation of acrosome reaction (GO:2000344)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|external side of plasma membrane (GO:0009897)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|taurine binding (GO:0030977)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Ginkgo biloba(DB01381)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Lindane(DB00431)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTTATGTTGCCGAGACACAAA	0.478																																						ENST00000274576.4		NA																	0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23						c.(1009-1011)cGg>cTg		glycine receptor, alpha 1	Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						137.0	134.0	135.0					5																	151208531		2203	4300	6503	SO:0001583	missense	2741				muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity	g.chr5:151208531C>A		CCDS4320.1, CCDS54942.1	5q33.1	2012-02-07	2008-01-24		ENSG00000145888	ENSG00000145888		"""Ligand-gated ion channels / Glycine receptors"""	4326	protein-coding gene	gene with protein product	"""startle disease/hyperekplexia"", ""stiff person syndrome"""	138491	"""glycine receptor, alpha 1 (startle disease/hyperekplexia)"""	STHE		1355335, 8298642	Standard	NM_000171		Approved		uc003lut.3	P23415	OTTHUMG00000130121	ENST00000455880.2:c.1010G>T	5.37:g.151208531C>A	ENSP00000411593:p.Arg337Leu	False	False		Somatic	0				GLRA1_ENST00000455880.2_Missense_Mutation_p.R337L|GLRA1_ENST00000545569.1_Missense_Mutation_p.R254L	p.R337L	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	WXS	Illumina HiSeq	Phase_I	P23415	GLRA1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		8	1302	-		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	337					B2R6T3|Q14C77|Q6DJV9	Missense_Mutation	SNP	ENST00000455880.2	37	c.1010G>T	CCDS54942.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.369025	0.82463	.	.	ENSG00000145888	ENST00000274576;ENST00000455880;ENST00000545569	D;D;D	0.85411	-1.98;-1.98;-1.98	5.07	5.07	0.68467	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.90428	0.7003	M	0.79693	2.465	0.80722	D	1	P;P;P	0.36789	0.57;0.493;0.514	P;P;B	0.47376	0.545;0.545;0.313	D	0.91347	0.5101	10	0.72032	D	0.01	.	18.826	0.92119	0.0:1.0:0.0:0.0	.	337;254;337	P23415;Q14C71;P23415-2	GLRA1_HUMAN;.;.	L	337;337;254	ENSP00000274576:R337L;ENSP00000411593:R337L;ENSP00000445913:R254L	ENSP00000274576:R337L	R	-	2	0	GLRA1	151188724	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.557000	0.82243	2.524000	0.85096	0.650000	0.86243	CGG		0.478	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373959.1	0			5:151208531
APPL2	55198	broad.mit.edu	37	12	105597519	105597519	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:105597519C>A	ENST00000258530.3	-	9	891	c.666G>T	c.(664-666)atG>atT	p.M222I	APPL2_ENST00000549573.1_5'UTR|APPL2_ENST00000539978.2_Missense_Mutation_p.M179I|APPL2_ENST00000551662.1_Missense_Mutation_p.M228I	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0	Asp/Glu-rich (highly acidic).|Poly-Glu.				cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						AAAAGCTGTCCATACGTTTGG	0.418																																						ENST00000258530.3		NA																	0				breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(664-666)atG>atT		adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2							169.0	169.0	169.0					12																	105597519		2203	4300	6503	SO:0001583	missense	55198				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding	g.chr12:105597519C>A	AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"""Pleckstrin homology (PH) domain containing"""	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.666G>T	12.37:g.105597519C>A	ENSP00000258530:p.Met222Ile	False	False		Somatic	0				APPL2_ENST00000549573.1_5'UTR|APPL2_ENST00000551662.1_Missense_Mutation_p.M228I|APPL2_ENST00000539978.2_Missense_Mutation_p.M179I	p.M222I	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	WXS	Illumina HiSeq	Phase_I	Q8NEU8	DP13B_HUMAN			9	891	-			222			Required for RAB5A binding (By similarity).		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000258530.3	37	c.666G>T	CCDS9101.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.301684	0.40694	.	.	ENSG00000136044	ENST00000258530;ENST00000539978;ENST00000551662	T;T;T	0.03920	3.76;3.76;3.76	5.56	5.56	0.83823	.	0.037498	0.85682	D	0.000000	T	0.08714	0.0216	L	0.60455	1.87	0.58432	D	0.999999	B;B;B	0.31209	0.313;0.129;0.129	B;B;B	0.30251	0.113;0.053;0.048	T	0.04900	-1.0919	10	0.59425	D	0.04	-30.1684	17.7181	0.88343	0.0:1.0:0.0:0.0	.	228;179;222	F8W1P5;B7Z1Q8;Q8NEU8	.;.;DP13B_HUMAN	I	222;179;228	ENSP00000258530:M222I;ENSP00000444472:M179I;ENSP00000446917:M228I	ENSP00000258530:M222I	M	-	3	0	APPL2	104121649	1.000000	0.71417	1.000000	0.80357	0.525000	0.34531	5.448000	0.66612	2.620000	0.88729	0.655000	0.94253	ATG		0.418	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406238.3	0	NM_018171		12:105597519
BRWD1	54014	broad.mit.edu	37	21	40582011	40582011	+	Silent	SNP	C	C	A	rs182568595	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr21:40582011C>A	ENST00000333229.2	-	36	4434	c.4107G>T	c.(4105-4107)gcG>gcT	p.A1369A	BRWD1_ENST00000380800.3_Silent_p.A1369A|BRWD1_ENST00000342449.3_Silent_p.A1369A	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1369	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CATAATTTCCCGCATCTAGAG	0.343																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3		NA																	0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(4105-4107)gcG>gcT		bromodomain and WD repeat domain containing 1							97.0	95.0	96.0					21																	40582011		2202	4300	6502	SO:0001819	synonymous_variant	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40582011C>A	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.4107G>T	21.37:g.40582011C>A		True	False		Somatic	0				BRWD1_ENST00000333229.2_Silent_p.A1369A|BRWD1_ENST00000380800.3_Silent_p.A1369A	p.A1369A	NM_033656.3	NP_387505.1	WXS	Illumina HiSeq	Phase_I	Q9NSI6	BRWD1_HUMAN			36	4185	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	1369			Bromo 2.		C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Silent	SNP	ENST00000333229.2	37	c.4107G>T	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	C	8.213	0.800783	0.16397	.	.	ENSG00000185658	ENST00000424441	.	.	.	6.17	-12.3	0.00002	.	.	.	.	.	T	0.32071	0.0817	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46289	-0.9202	4	.	.	.	-3.6845	2.484	0.04594	0.3027:0.0696:0.222:0.4057	.	.	.	.	W	307	.	.	G	-	1	0	BRWD1	39503881	0.000000	0.05858	0.024000	0.17045	0.968000	0.65278	-2.124000	0.01318	-3.448000	0.00161	-0.181000	0.13052	GGG		0.343	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	0	NM_033656		21:40582011
PKNOX1	5316	broad.mit.edu	37	21	44448897	44448897	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr21:44448897C>A	ENST00000291547.5	+	10	1223	c.1012C>A	c.(1012-1014)Cag>Aag	p.Q338K	PKNOX1_ENST00000607150.1_3'UTR|PKNOX1_ENST00000432907.2_Missense_Mutation_p.Q221K	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	338					angiogenesis (GO:0001525)|camera-type eye development (GO:0043010)|erythrocyte differentiation (GO:0030218)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						AAAAACTGCTCAGAACCGGCC	0.502																																						ENST00000291547.5		NA																	0				cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						c.(1012-1014)Cag>Aag		PBX/knotted 1 homeobox 1							107.0	119.0	115.0					21																	44448897		2203	4300	6503	SO:0001583	missense	5316						sequence-specific DNA binding	g.chr21:44448897C>A		CCDS13692.1, CCDS68211.1	21q22.3	2011-06-20			ENSG00000160199	ENSG00000160199		"""Homeoboxes / TALE class"""	9022	protein-coding gene	gene with protein product		602100				9479508	Standard	NM_001286258		Approved	PREP1	uc002zcq.1	P55347	OTTHUMG00000086833	ENST00000291547.5:c.1012C>A	21.37:g.44448897C>A	ENSP00000291547:p.Gln338Lys	False	False		Somatic	0				PKNOX1_ENST00000607150.1_3'UTR|PKNOX1_ENST00000432907.2_Missense_Mutation_p.Q221K	p.Q338K	NM_004571.3	NP_004562.2	WXS	Illumina HiSeq	Phase_I	P55347	PKNX1_HUMAN			10	1223	+			338					O00528|Q8IWT7	Missense_Mutation	SNP	ENST00000291547.5	37	c.1012C>A	CCDS13692.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617943	0.87359	.	.	ENSG00000160199	ENST00000291547;ENST00000432907	D;D	0.86562	-1.86;-2.14	5.39	5.39	0.77823	.	0.171230	0.53938	D	0.000057	D	0.86952	0.6057	L	0.60455	1.87	0.80722	D	1	B;P	0.36837	0.349;0.571	B;B	0.39027	0.142;0.288	D	0.85519	0.1202	10	0.36615	T	0.2	-32.1223	19.5223	0.95190	0.0:1.0:0.0:0.0	.	338;338	P55347;P55347-2	PKNX1_HUMAN;.	K	338;221	ENSP00000291547:Q338K;ENSP00000402243:Q221K	ENSP00000291547:Q338K	Q	+	1	0	PKNOX1	43321966	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	6.992000	0.76238	2.691000	0.91804	0.655000	0.94253	CAG		0.502	PKNOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195520.3	0			21:44448897
CENPP	401541	broad.mit.edu	37	9	95099894	95099894	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr9:95099894C>A	ENST00000375587.3	+	3	876	c.361C>A	c.(361-363)Cag>Aag	p.Q121K		NM_001012267.1	NP_001012267.1	Q6IPU0	CENPP_HUMAN	centromere protein P	121					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						ACTTGAATTTCAGATTCTGGA	0.343																																						ENST00000375587.3		NA																	0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						c.(361-363)Cag>Aag		centromere protein P							86.0	91.0	89.0					9																	95099894		2203	4300	6503	SO:0001583	missense	401541				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm		g.chr9:95099894C>A	AK091247	CCDS35063.1, CCDS69618.1	9q22.31	2013-11-05			ENSG00000188312	ENSG00000188312			32933	protein-coding gene	gene with protein product		611505				16622419, 16622420	Standard	NM_001286969		Approved	RP11-19J3.3, CENP-P	uc004arz.3	Q6IPU0	OTTHUMG00000020228	ENST00000375587.3:c.361C>A	9.37:g.95099894C>A	ENSP00000364737:p.Gln121Lys	True	False		Somatic	0					p.Q121K	NM_001012267.1	NP_001012267.1	WXS	Illumina HiSeq	Phase_I	Q6IPU0	CENPP_HUMAN			3	876	+			121					B3KRA5|B3KS17|Q5T9F8|Q5T9F9	Missense_Mutation	SNP	ENST00000375587.3	37	c.361C>A	CCDS35063.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.573854	0.45902	.	.	ENSG00000188312	ENST00000375587;ENST00000402724	.	.	.	5.11	3.2	0.36748	.	0.248287	0.32703	N	0.005743	T	0.58807	0.2148	L	0.50333	1.59	0.80722	D	1	P;P	0.46859	0.749;0.885	P;P	0.48770	0.492;0.589	T	0.59804	-0.7385	9	0.48119	T	0.1	-5.334	13.3941	0.60840	0.0:0.6865:0.3135:0.0	.	121;80	Q6IPU0;Q7Z672	CENPP_HUMAN;.	K	121;80	.	ENSP00000364737:Q121K	Q	+	1	0	CENPP	94139715	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.696000	0.37773	0.770000	0.33336	0.655000	0.94253	CAG		0.343	CENPP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053098.1	0	NM_001012267		9:95099894
KRT18	3875	broad.mit.edu	37	12	53344192	53344192	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:53344192C>A	ENST00000388835.3	+	2	708	c.498C>A	c.(496-498)gtC>gtA	p.V166V	KRT8_ENST00000546897.1_5'Flank|KRT18_ENST00000550600.1_Silent_p.V166V|KRT8_ENST00000549198.1_5'Flank|KRT18_ENST00000388837.2_Silent_p.V166V|KRT8_ENST00000552551.1_5'Flank|AC107016.2_ENST00000581256.1_RNA	NM_000224.2	NP_000215.1	P05783	K1C18_HUMAN	keratin 18	166	Coil 1B.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis (GO:0009653)|cell cycle (GO:0007049)|extrinsic apoptotic signaling pathway (GO:0097191)|Golgi to plasma membrane CFTR protein transport (GO:0043000)|hepatocyte apoptotic process (GO:0097284)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of apoptotic process (GO:0043066)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell periphery (GO:0071944)|centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						ACTTTAGAGTCAAGTAAGTTT	0.537																																						ENST00000550600.1		NA																	0				central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						c.(496-498)gtC>gtA		keratin 18							201.0	210.0	207.0					12																	53344192		2203	4300	6503	SO:0001819	synonymous_variant	3875				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity	g.chr12:53344192C>A		CCDS31809.1	12q13	2013-01-16			ENSG00000111057	ENSG00000111057		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6430	protein-coding gene	gene with protein product		148070				1705144, 16831889	Standard	NM_000224		Approved		uc001sbg.3	P05783	OTTHUMG00000169882	ENST00000388835.3:c.498C>A	12.37:g.53344192C>A		True	False		Somatic	0				KRT18_ENST00000388835.3_Silent_p.V166V|KRT18_ENST00000388837.2_Silent_p.V166V	p.V166V			WXS	Illumina HiSeq	Phase_I	P05783	K1C18_HUMAN			3	552	+			166			Coil 1B.|Necessary for interaction with PNN.|Rod.		Q53G38|Q5U0N8|Q9BW26	Silent	SNP	ENST00000388835.3	37	c.498C>A	CCDS31809.1																																																																																				0.537	KRT18-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406405.1	0	NM_199187		12:53344192
RIMS2	9699	broad.mit.edu	37	8	105257203	105257203	+	Missense_Mutation	SNP	G	G	A	rs377163259		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr8:105257203G>A	ENST00000436393.2	+	24	3689	c.3448G>A	c.(3448-3450)Gtg>Atg	p.V1150M	RIMS2_ENST00000262231.10_Missense_Mutation_p.V971M|RIMS2_ENST00000406091.3_Missense_Mutation_p.V1132M|RIMS2_ENST00000507740.1_Missense_Mutation_p.V946M|RIMS2_ENST00000339750.2_Missense_Mutation_p.V68M			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1194					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGGCCTGGCCGTGGAAATGAG	0.463										HNSCC(12;0.0054)																												ENST00000507740.1		NA																	0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(2836-2838)Gtg>Atg		regulating synaptic membrane exocytosis 2		G	MET/VAL,MET/VAL	0,4038		0,0,2019	129.0	136.0	133.0		2836,3394	5.1	1.0	8		133	1,8363		0,1,4181	no	missense,missense	RIMS2	NM_014677.4,NM_001100117.2	21,21	0,1,6200	AA,AG,GG		0.012,0.0,0.0081	benign,benign	946/1164,1132/1350	105257203	1,12401	2019	4182	6201	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105257203G>A	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.3448G>A	8.37:g.105257203G>A	ENSP00000390665:p.Val1150Met	False	False	HNSCC(12;0.0054)	Somatic	0				RIMS2_ENST00000339750.2_Missense_Mutation_p.V68M|RIMS2_ENST00000406091.3_Missense_Mutation_p.V1132M|RIMS2_ENST00000262231.10_Missense_Mutation_p.V971M|RIMS2_ENST00000436393.2_Missense_Mutation_p.V1150M	p.V946M	NM_014677.4	NP_055492.3	WXS	Illumina HiSeq	Phase_I	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		18	3072	+			1194					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.2836G>A		.	.	.	.	.	.	.	.	.	.	G	16.59	3.166677	0.57476	0.0	1.2E-4	ENSG00000176406	ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393;ENST00000523362;ENST00000339750	T;T;T;T;T;T;T	0.21361	2.58;2.28;2.27;2.03;2.48;2.02;2.01	5.05	5.05	0.67936	.	.	.	.	.	T	0.28797	0.0714	L	0.43152	1.355	0.58432	D	0.999996	D;P;D;B;B	0.56035	0.974;0.669;0.966;0.161;0.161	P;B;P;B;B	0.49047	0.499;0.032;0.599;0.024;0.024	T	0.01051	-1.1468	9	0.44086	T	0.13	.	18.5918	0.91215	0.0:0.0:1.0:0.0	.	1194;1150;971;946;1132	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	M	1169;1132;1194;971;946;1139;1150;68;68	ENSP00000384892:V1132M;ENSP00000262231:V971M;ENSP00000423559:V946M;ENSP00000386228:V1139M;ENSP00000390665:V1150M;ENSP00000428478:V68M;ENSP00000342051:V68M	ENSP00000262231:V971M	V	+	1	0	RIMS2	105326379	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.807000	0.86032	2.623000	0.88846	0.650000	0.86243	GTG		0.463	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	0	NM_001100117		8:105257203
SCN5A	6331	broad.mit.edu	37	3	38645288	38645288	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:38645288G>T	ENST00000333535.4	-	12	1954	c.1805C>A	c.(1804-1806)tCa>tAa	p.S602*	SCN5A_ENST00000423572.2_Nonsense_Mutation_p.S602*|SCN5A_ENST00000455624.2_Nonsense_Mutation_p.S602*|SCN5A_ENST00000449557.2_Nonsense_Mutation_p.S602*|SCN5A_ENST00000451551.2_Nonsense_Mutation_p.S602*|SCN5A_ENST00000413689.1_Nonsense_Mutation_p.S602*|SCN5A_ENST00000414099.2_Nonsense_Mutation_p.S602*|SCN5A_ENST00000443581.1_Nonsense_Mutation_p.S602*|SCN5A_ENST00000425664.1_Nonsense_Mutation_p.S602*|SCN5A_ENST00000450102.2_Nonsense_Mutation_p.S602*			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	602					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CCCCAGTAATGAGACCACCCC	0.657																																						ENST00000413689.1		NA																	0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(1804-1806)tCa>tAa		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						69.0	73.0	72.0					3																	38645288		2006	4186	6192	SO:0001587	stop_gained	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38645288G>T	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.1805C>A	3.37:g.38645288G>T	ENSP00000328968:p.Ser602*	False	False		Somatic	0				SCN5A_ENST00000455624.2_Nonsense_Mutation_p.S602*|SCN5A_ENST00000333535.4_Nonsense_Mutation_p.S602*|SCN5A_ENST00000423572.2_Nonsense_Mutation_p.S602*|SCN5A_ENST00000414099.2_Nonsense_Mutation_p.S602*|SCN5A_ENST00000425664.1_Nonsense_Mutation_p.S602*|SCN5A_ENST00000449557.2_Nonsense_Mutation_p.S602*|SCN5A_ENST00000451551.2_Nonsense_Mutation_p.S602*|SCN5A_ENST00000450102.2_Nonsense_Mutation_p.S602*|SCN5A_ENST00000443581.1_Nonsense_Mutation_p.S602*	p.S602*	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	WXS	Illumina HiSeq	Phase_I	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	12	1998	-	Medulloblastoma(35;0.163)		602					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Nonsense_Mutation	SNP	ENST00000333535.4	37	c.1805C>A	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	39	7.306943	0.98200	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	.	.	.	4.18	4.18	0.49190	.	0.309913	0.31312	N	0.007876	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.6938	0.85329	0.0:0.0:1.0:0.0	.	.	.	.	X	602	.	ENSP00000328968:S602X	S	-	2	0	SCN5A	38620292	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	9.397000	0.97276	2.164000	0.68074	0.561000	0.74099	TCA		0.657	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	0	NM_198056		3:38645288
OBSL1	23363	broad.mit.edu	37	2	220421218	220421218	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:220421218G>A	ENST00000404537.1	-	13	4350	c.4294C>T	c.(4294-4296)Cgg>Tgg	p.R1432W	OBSL1_ENST00000265317.5_Missense_Mutation_p.R331W|RP11-256I23.2_ENST00000597192.1_RNA|OBSL1_ENST00000373876.1_Missense_Mutation_p.R1340W|OBSL1_ENST00000603926.1_Missense_Mutation_p.R1432W|OBSL1_ENST00000265318.4_Intron	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1432	Ig-like 12.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CTCCCTGCCCGCAAAGTCACG	0.607																																						ENST00000404537.1		NA																	0					NA						c.(4294-4296)Cgg>Tgg		obscurin-like 1							93.0	99.0	97.0					2																	220421218		2060	4187	6247	SO:0001583	missense	23363				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	g.chr2:220421218G>A	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.4294C>T	2.37:g.220421218G>A	ENSP00000385636:p.Arg1432Trp	True	False		Somatic	0				OBSL1_ENST00000265318.4_Intron|OBSL1_ENST00000373876.1_Missense_Mutation_p.R1340W|OBSL1_ENST00000603926.1_Missense_Mutation_p.R1432W|OBSL1_ENST00000265317.5_Missense_Mutation_p.R331W	p.R1432W	NM_015311.2	NP_056126.1	WXS	Illumina HiSeq	Phase_I	O75147	OBSL1_HUMAN		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)	13	4350	-		Renal(207;0.0376)	1432			Ig-like 12.		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	ENST00000404537.1	37	c.4294C>T	CCDS46520.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.807786	0.31961	.	.	ENSG00000124006	ENST00000404537;ENST00000373876;ENST00000265317	T;T;T	0.68624	-0.34;3.52;3.52	4.51	4.51	0.55191	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79269	0.4417	M	0.79926	2.475	0.09310	N	0.999997	D;D;D;D	0.89917	1.0;0.998;0.999;1.0	D;P;D;D	0.76071	0.987;0.849;0.932;0.953	T	0.69109	-0.5232	9	0.66056	D	0.02	.	5.8434	0.18647	0.0932:0.0:0.5879:0.3188	.	239;1433;1432;331	B7Z5P5;A4KVA4;O75147;E7ER99	.;.;OBSL1_HUMAN;.	W	1432;1340;331	ENSP00000385636:R1432W;ENSP00000362983:R1340W;ENSP00000265317:R331W	ENSP00000265317:R331W	R	-	1	2	OBSL1	220129462	0.925000	0.31364	0.018000	0.16275	0.049000	0.14656	1.813000	0.38962	2.347000	0.79759	0.491000	0.48974	CGG		0.607	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1	0			2:220421218
CCDC88B	283234	broad.mit.edu	37	11	64111636	64111636	+	Silent	SNP	C	C	A	rs201469975		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr11:64111636C>A	ENST00000356786.5	+	14	1667	c.1623C>A	c.(1621-1623)ctC>ctA	p.L541L	CCDC88B_ENST00000301897.4_5'Flank|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	541						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ACTCAGTGCTCGAGGCATCAG	0.632																																						ENST00000356786.5		NA																	0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1621-1623)ctC>ctA		coiled-coil domain containing 88B							60.0	66.0	64.0					11																	64111636		2201	4297	6498	SO:0001819	synonymous_variant	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64111636C>A	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.1623C>A	11.37:g.64111636C>A		False	False		Somatic	0				CCDC88B_ENST00000463837.1_3'UTR	p.L541L	NM_032251.5	NP_115627.6	WXS	Illumina HiSeq	Phase_I	A6NC98	CC88B_HUMAN			14	1667	+			541					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Silent	SNP	ENST00000356786.5	37	c.1623C>A	CCDS8072.2																																																																																				0.632	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	0	NM_032251		11:64111636
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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"""		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(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	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65.0	56.0	59.0					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	False	False	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)	Somatic	0				TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina HiSeq	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|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	Missense_Mutation	SNP	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	NM_000546		17:7577121
TRIM38	10475	broad.mit.edu	37	6	25972146	25972146	+	Missense_Mutation	SNP	T	T	G			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr6:25972146T>G	ENST00000357085.3	+	5	1033	c.557T>G	c.(556-558)cTc>cGc	p.L186R	TRIM38_ENST00000349458.3_Missense_Mutation_p.L186R	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	186					negative regulation of defense response to virus (GO:0050687)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of viral entry into host cell (GO:0046598)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of interferon-beta production (GO:0032648)|signal transduction (GO:0007165)	intracellular (GO:0005622)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						TTTAAGAATCTCCAGTGTTTC	0.438																																						ENST00000357085.3		NA																	0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						c.(556-558)cTc>cGc		tripartite motif containing 38							63.0	63.0	63.0					6																	25972146		2203	4300	6503	SO:0001583	missense	10475				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding	g.chr6:25972146T>G	U90547	CCDS4568.1	6p21.3	2011-04-20	2011-01-25	2002-06-07	ENSG00000112343	ENSG00000112343		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10059	protein-coding gene	gene with protein product			"""ring finger protein 15"", ""tripartite motif-containing 38"""	RNF15			Standard	XR_241880		Approved	RORET	uc003nfm.4	O00635	OTTHUMG00000014414	ENST00000357085.3:c.557T>G	6.37:g.25972146T>G	ENSP00000349596:p.Leu186Arg	False	False		Somatic	0				TRIM38_ENST00000349458.3_Missense_Mutation_p.L186R	p.L186R	NM_006355.3	NP_006346.1	WXS	Illumina HiSeq	Phase_I	O00635	TRI38_HUMAN			5	1033	+			186					B2R862	Missense_Mutation	SNP	ENST00000357085.3	37	c.557T>G	CCDS4568.1	.	.	.	.	.	.	.	.	.	.	t	8.516	0.867585	0.17250	.	.	ENSG00000112343	ENST00000540262;ENST00000349458;ENST00000357085	T;T;T	0.07216	3.21;3.21;3.21	4.55	3.37	0.38596	.	0.000000	0.39985	N	0.001212	T	0.07999	0.0200	M	0.80746	2.51	0.09310	N	0.999999	P	0.52316	0.952	P	0.52267	0.694	T	0.16188	-1.0411	10	0.27082	T	0.32	.	7.6274	0.28220	0.1881:0.0:0.0:0.8119	.	186	O00635	TRI38_HUMAN	R	186	ENSP00000443976:L186R;ENSP00000230099:L186R;ENSP00000349596:L186R	ENSP00000230099:L186R	L	+	2	0	TRIM38	26080125	0.041000	0.20044	0.012000	0.15200	0.001000	0.01503	2.090000	0.41682	1.047000	0.40274	-0.327000	0.08410	CTC		0.438	TRIM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040076.2	0			6:25972146
TNXB	7148	broad.mit.edu	37	6	32049954	32049954	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr6:32049954G>A	ENST00000375244.3	-	9	3796	c.3595C>T	c.(3595-3597)Cgg>Tgg	p.R1199W	TNXB_ENST00000375247.2_Missense_Mutation_p.R1199W			P22105	TENX_HUMAN	tenascin XB	1286	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACCTGGGGCCGTCCATCCCTG	0.562																																						ENST00000375244.3		NA																	0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(3595-3597)Cgg>Tgg		tenascin XB							45.0	40.0	42.0					6																	32049954		1266	2540	3806	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32049954G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.3595C>T	6.37:g.32049954G>A	ENSP00000364393:p.Arg1199Trp	False	False		Somatic	0				TNXB_ENST00000375247.2_Missense_Mutation_p.R1199W	p.R1199W			WXS	Illumina HiSeq	Phase_I	P22105	TENX_HUMAN			9	3796	-			1286			Fibronectin type-III 4.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.3595C>T		.	.	.	.	.	.	.	.	.	.	G	17.01	3.278036	0.59758	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.57273	0.41;0.41	4.74	4.74	0.60224	.	0.905187	0.09249	N	0.828076	T	0.53867	0.1823	M	0.61703	1.905	0.09310	N	1	D	0.64830	0.994	P	0.61397	0.888	T	0.41698	-0.9494	10	0.39692	T	0.17	.	10.3406	0.43875	0.0:0.0:0.804:0.196	.	1199	P22105-3	.	W	1199	ENSP00000364393:R1199W;ENSP00000364396:R1199W	ENSP00000364393:R1199W	R	-	1	2	TNXB	32157932	0.003000	0.15002	0.035000	0.18076	0.930000	0.56654	1.320000	0.33666	2.461000	0.83175	0.407000	0.27541	CGG		0.562	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	0	NM_019105		6:32049954
HEBP2	23593	broad.mit.edu	37	6	138734065	138734065	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr6:138734065G>T	ENST00000607197.1	+	4	745	c.468G>T	c.(466-468)ttG>ttT	p.L156F	HEBP2_ENST00000448741.1_Nonstop_Mutation_p.*128L|HEBP2_ENST00000367697.3_Nonstop_Mutation_p.*117L	NM_014320.2	NP_055135.1	Q9Y5Z4	HEBP2_HUMAN	heme binding protein 2	156					negative regulation of mitochondrial membrane potential (GO:0010917)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of necrotic cell death (GO:0010940)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|lung(3)	5	Breast(32;0.0933)			GBM - Glioblastoma multiforme(68;0.000732)|OV - Ovarian serous cystadenocarcinoma(155;0.00171)		AACAACTTTTGACATTAGCAA	0.353																																						ENST00000367697.3		NA																	0				endometrium(1)|large_intestine(1)|lung(3)	5						c.(349-351)tGa>tTa		heme binding protein 2							151.0	149.0	150.0					6																	138734065		2203	4300	6503	SO:0001583	missense	23593					mitochondrion		g.chr6:138734065G>T	AF117616	CCDS5191.1	6q24	2008-08-29	2002-09-23	2002-09-27	ENSG00000051620	ENSG00000051620			15716	protein-coding gene	gene with protein product		605825	"""chromosome 6 open reading frame 34"""	C6orf34		10640688, 17098234	Standard	NM_014320		Approved	SOUL	uc003qhw.1	Q9Y5Z4	OTTHUMG00000015671	ENST00000607197.1:c.468G>T	6.37:g.138734065G>T	ENSP00000475750:p.Leu156Phe	True	False		Somatic	0				HEBP2_ENST00000448741.1_Nonstop_Mutation_p.*128L|HEBP2_ENST00000607197.1_Missense_Mutation_p.L156F	p.*117L			WXS	Illumina HiSeq	Phase_I	Q9Y5Z4	HEBP2_HUMAN		GBM - Glioblastoma multiforme(68;0.000732)|OV - Ovarian serous cystadenocarcinoma(155;0.00171)	4	599	+	Breast(32;0.0933)		0					Q96P57	Nonstop_Mutation	SNP	ENST00000607197.1	37	c.350G>T	CCDS5191.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.63|15.63	2.889559|2.889559	0.52014|0.52014	.|.	.|.	ENSG00000051620|ENSG00000051620	ENST00000058691|ENST00000448741;ENST00000367697	T|.	0.22539|.	1.95|.	5.75|5.75	3.05|3.05	0.35203|0.35203	Regulatory factor, effector, bacterial (1);|.	0.628617|.	0.15795|.	N|.	0.244224|.	T|.	0.34571|.	0.0902|.	M|M	0.67953|0.67953	2.075|2.075	0.09310|0.09310	N|N	1|1	D|.	0.76494|.	0.999|.	D|.	0.65233|.	0.933|.	T|.	0.24693|.	-1.0153|.	10|.	0.56958|.	D|.	0.05|.	.|.	8.8909|8.8909	0.35432|0.35432	0.2325:0.0:0.7675:0.0|0.2325:0.0:0.7675:0.0	.|.	156|.	Q9Y5Z4|.	HEBP2_HUMAN|.	F|L	156|128;117	ENSP00000058691:L156F|.	ENSP00000058691:L156F|.	L|X	+|+	3|2	2|2	HEBP2|HEBP2	138775758|138775758	1.000000|1.000000	0.71417|0.71417	0.890000|0.890000	0.34922|0.34922	0.965000|0.965000	0.64279|0.64279	3.520000|3.520000	0.53465|0.53465	0.378000|0.378000	0.24764|0.24764	0.563000|0.563000	0.77884|0.77884	TTG|TGA		0.353	HEBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042426.2	0			6:138734065
PDCD11	22984	broad.mit.edu	37	10	105203711	105203711	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr10:105203711C>A	ENST00000369797.3	+	34	5258	c.5164C>A	c.(5164-5166)Cgg>Agg	p.R1722R		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1722					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GAAGCGTTTCCGGCAGGAGAA	0.587																																						ENST00000369797.3		NA																	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(5164-5166)Cgg>Agg		programmed cell death 11							93.0	92.0	92.0					10																	105203711		2203	4300	6503	SO:0001819	synonymous_variant	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105203711C>A	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.5164C>A	10.37:g.105203711C>A		False	False		Somatic	0					p.R1722R	NM_014976.1	NP_055791.1	WXS	Illumina HiSeq	Phase_I	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	34	5258	+		Colorectal(252;0.0747)|Breast(234;0.128)	1722					Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Silent	SNP	ENST00000369797.3	37	c.5164C>A	CCDS31276.1																																																																																				0.587	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1	0			10:105203711
ATAD2	29028	broad.mit.edu	37	8	124348766	124348766	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr8:124348766C>A	ENST00000287394.5	-	22	3165	c.3058G>T	c.(3058-3060)Gat>Tat	p.D1020Y	ATAD2_ENST00000521903.1_Missense_Mutation_p.D338Y	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1020	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GTGACATAATCAGGAACCTAA	0.328																																						ENST00000287394.5		NA																	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48						c.(3058-3060)Gat>Tat		ATPase family, AAA domain containing 2							100.0	94.0	96.0					8																	124348766		2203	4299	6502	SO:0001583	missense	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124348766C>A	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.3058G>T	8.37:g.124348766C>A	ENSP00000287394:p.Asp1020Tyr	False	False		Somatic	0				ATAD2_ENST00000521903.1_Missense_Mutation_p.D338Y	p.D1020Y	NM_014109.3	NP_054828.2	WXS	Illumina HiSeq	Phase_I	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		22	3165	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		1020			Bromo.		Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	c.3058G>T	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.874991	0.91664	.	.	ENSG00000156802	ENST00000287394;ENST00000521903	T;T	0.28069	1.63;1.63	5.89	5.89	0.94794	Bromodomain (6);	0.000000	0.85682	D	0.000000	T	0.74989	0.3789	H	0.98802	4.335	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.85104	0.0959	10	0.87932	D	0	-27.9514	20.2576	0.98430	0.0:1.0:0.0:0.0	.	1020	Q6PL18	ATAD2_HUMAN	Y	1020;338	ENSP00000287394:D1020Y;ENSP00000429213:D338Y	ENSP00000287394:D1020Y	D	-	1	0	ATAD2	124417947	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.541000	0.82084	2.783000	0.95769	0.655000	0.94253	GAT		0.328	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	0	NM_014109		8:124348766
BTAF1	9044	broad.mit.edu	37	10	93786913	93786913	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr10:93786913G>T	ENST00000265990.6	+	37	5570	c.5262G>T	c.(5260-5262)ttG>ttT	p.L1754F	BTAF1_ENST00000544642.1_Missense_Mutation_p.L582F	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1754	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TATACCGATTGATAACCAGAG	0.378																																						ENST00000265990.6		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59						c.(5260-5262)ttG>ttT		BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa							108.0	108.0	108.0					10																	93786913		2203	4300	6503	SO:0001583	missense	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93786913G>T	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.5262G>T	10.37:g.93786913G>T	ENSP00000265990:p.Leu1754Phe	False	False		Somatic	0				BTAF1_ENST00000544642.1_Missense_Mutation_p.L582F	p.L1754F	NM_003972.2	NP_003963.1	WXS	Illumina HiSeq	Phase_I	O14981	BTAF1_HUMAN			37	5570	+		Colorectal(252;0.0846)	1754			Helicase C-terminal.		B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	c.5262G>T	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.857996	0.71834	.	.	ENSG00000095564	ENST00000265990;ENST00000544642;ENST00000538688	T;T	0.79033	-1.23;-1.23	5.52	2.63	0.31362	Helicase, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.81754	0.4889	L	0.49350	1.555	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80139	-0.1507	10	0.62326	D	0.03	-8.1932	7.3657	0.26772	0.2012:0.1222:0.6766:0.0	.	1754	O14981	BTAF1_HUMAN	F	1754;582;604	ENSP00000265990:L1754F;ENSP00000439924:L582F	ENSP00000265990:L1754F	L	+	3	2	BTAF1	93776893	1.000000	0.71417	0.997000	0.53966	0.914000	0.54420	2.707000	0.47143	0.814000	0.34374	0.561000	0.74099	TTG		0.378	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	0	NM_003972		10:93786913
KRT20	54474	broad.mit.edu	37	17	39034482	39034482	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:39034482C>A	ENST00000167588.3	-	6	1095	c.1054G>T	c.(1054-1056)Gaa>Taa	p.E352*		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	352	Coil 2.|Rod.				apoptotic process (GO:0006915)|cellular response to stress (GO:0033554)|intermediate filament organization (GO:0045109)|regulation of protein secretion (GO:0050708)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				ATATGGTATTCGTTGTTCTGG	0.493																																						ENST00000167588.3		NA																	0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14						c.(1054-1056)Gaa>Taa		keratin 20							275.0	229.0	245.0					17																	39034482		2203	4300	6503	SO:0001587	stop_gained	54474				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39034482C>A	BC031559	CCDS11379.1	17q21.2	2013-01-16			ENSG00000171431	ENSG00000171431		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	20412	protein-coding gene	gene with protein product		608218				8359595, 12515621, 16831889	Standard	NM_019010		Approved	CK20, K20, MGC35423	uc002hvl.3	P35900	OTTHUMG00000133366	ENST00000167588.3:c.1054G>T	17.37:g.39034482C>A	ENSP00000167588:p.Glu352*	False	False		Somatic	0					p.E352*	NM_019010.2	NP_061883.1	WXS	Illumina HiSeq	Phase_I	P35900	K1C20_HUMAN			6	1095	-		Breast(137;0.000301)|Ovarian(249;0.15)	352			Coil 2.|Rod.		B2R6W7	Nonsense_Mutation	SNP	ENST00000167588.3	37	c.1054G>T	CCDS11379.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280293	0.80692	.	.	ENSG00000171431	ENST00000167588	.	.	.	5.0	3.96	0.45880	.	0.095097	0.45361	D	0.000366	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.7896	0.69830	0.0:0.8551:0.1449:0.0	.	.	.	.	X	352	.	ENSP00000167588:E352X	E	-	1	0	KRT20	36288008	1.000000	0.71417	0.042000	0.18584	0.018000	0.09664	4.686000	0.61700	2.310000	0.77875	0.591000	0.81541	GAA		0.493	KRT20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257202.2	0			17:39034482
ZNF772	400720	broad.mit.edu	37	19	57985561	57985561	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:57985561C>T	ENST00000343280.4	-	5	811	c.551G>A	c.(550-552)aGt>aAt	p.S184N	AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000600175.1_Intron|ZNF772_ENST00000425074.3_3'UTR|ZNF772_ENST00000356584.3_Missense_Mutation_p.S143N|AC004076.9_ENST00000596831.1_Intron|ZNF772_ENST00000427512.2_Missense_Mutation_p.S72N	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	184					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(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		AAGGTTTGCACTGAAGCAGAA	0.483																																					Melanoma(5;289 436 14293 15924 30817)	ENST00000343280.4		NA																	0				breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9						c.(550-552)aGt>aAt		zinc finger protein 772							118.0	103.0	108.0					19																	57985561		2203	4300	6503	SO:0001583	missense	400720				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57985561C>T	BX647068	CCDS33133.1, CCDS46210.1	19q13.43	2013-01-08				ENSG00000197128		"""Zinc fingers, C2H2-type"", ""-"""	33106	protein-coding gene	gene with protein product							Standard	NM_001024596		Approved	DKFZp686I1569	uc002qot.3	Q68DY9		ENST00000343280.4:c.551G>A	19.37:g.57985561C>T	ENSP00000341165:p.Ser184Asn	False	False		Somatic	0				AC004076.9_ENST00000596831.1_Intron|ZNF772_ENST00000425074.3_3'UTR|ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000356584.3_Missense_Mutation_p.S143N|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000600175.1_Intron|ZNF772_ENST00000427512.2_Missense_Mutation_p.S72N	p.S184N	NM_001024596.2	NP_001019767.1	WXS	Illumina HiSeq	Phase_I	Q68DY9	ZN772_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)	5	811	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	184					A6NJK9|B4DH56|B4DYS0	Missense_Mutation	SNP	ENST00000343280.4	37	c.551G>A	CCDS33133.1	.	.	.	.	.	.	.	.	.	.	C	6.499	0.460340	0.12342	.	.	ENSG00000197128	ENST00000343280;ENST00000427512;ENST00000319969;ENST00000356584;ENST00000291809	T;T;T	0.10477	2.87;2.87;2.87	3.99	-3.85	0.04243	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04182	0.0116	N	0.11560	0.145	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.001;0.001	T	0.40794	-0.9544	9	0.37606	T	0.19	.	2.2791	0.04110	0.1337:0.3595:0.3269:0.1799	.	72;143;184	Q68DY9-2;A6NJK9;Q68DY9	.;.;ZN772_HUMAN	N	184;72;130;143;109	ENSP00000341165:S184N;ENSP00000395967:S72N;ENSP00000348992:S143N	ENSP00000291809:S109N	S	-	2	0	ZNF772	62677373	0.000000	0.05858	0.000000	0.03702	0.422000	0.31414	-3.962000	0.00324	-0.300000	0.08895	-0.479000	0.04858	AGT		0.483	ZNF772-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397447.1	0	NM_001024596		19:57985561
IGKV1D-42	28892	broad.mit.edu	37	2	90229521	90229521	+	RNA	SNP	T	T	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:90229521T>A	ENST00000390278.2	+	0	361									immunoglobulin kappa variable 1D-42 (non-functional)																		AAACAGGACTTCAGTTACCCT	0.498																																						ENST00000390278.2		NA																	0					NA															52.0	54.0	53.0					2																	90229521		1863	4088	5951			0							g.chr2:90229521T>A	X72816		2p11.2	2012-02-08	2008-09-09		ENSG00000211633	ENSG00000211633		"""Immunoglobulins / IGK locus"""	5757	other	immunoglobulin gene			"""immunoglobulin kappa variable 1D-42"""				Standard	NG_000833		Approved				OTTHUMG00000151573		2.37:g.90229521T>A		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	361	+			NA						RNA	SNP	ENST00000390278.2	37																																																																																						0.498	IGKV1D-42-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323148.1	0	NG_000833		2:90229521
TGDS	23483	broad.mit.edu	37	13	95246123	95246123	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr13:95246123G>T	ENST00000261296.5	-	2	245	c.125C>A	c.(124-126)cCa>cAa	p.P42Q	TGDS_ENST00000498294.1_5'UTR	NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase	42					nucleotide-sugar metabolic process (GO:0009225)		coenzyme binding (GO:0050662)|dTDP-glucose 4,6-dehydratase activity (GO:0008460)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					CATATAGTTTGGATAATCTTC	0.274																																						ENST00000261296.5		NA																	0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						c.(124-126)cCa>cAa		TDP-glucose 4,6-dehydratase							103.0	108.0	107.0					13																	95246123		2200	4281	6481	SO:0001583	missense	23483				cellular metabolic process		coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding	g.chr13:95246123G>T	AF048686	CCDS9471.1	13q32.1	2012-02-22			ENSG00000088451	ENSG00000088451	4.2.1.46	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	20324	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 2E, member 1"""					19027726	Standard	NM_014305		Approved	TDPGD, SDR2E1	uc001vlw.3	O95455	OTTHUMG00000046308	ENST00000261296.5:c.125C>A	13.37:g.95246123G>T	ENSP00000261296:p.Pro42Gln	True	False		Somatic	0				TGDS_ENST00000498294.1_5'UTR	p.P42Q	NM_014305.2	NP_055120.1	WXS	Illumina HiSeq	Phase_I	O95455	TGDS_HUMAN			2	245	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)		42					Q05DQ3|Q2TU31|Q5T3Z2|Q9H1T9	Missense_Mutation	SNP	ENST00000261296.5	37	c.125C>A	CCDS9471.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204314	0.79127	.	.	ENSG00000088451	ENST00000261296	D	0.93019	-3.15	5.67	5.67	0.87782	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.116101	0.64402	D	0.000014	D	0.96959	0.9007	M	0.88181	2.935	0.54753	D	0.999986	D	0.89917	1.0	D	0.91635	0.999	D	0.95736	0.8779	10	0.21014	T	0.42	.	17.5515	0.87878	0.0:0.0:1.0:0.0	.	42	O95455	TGDS_HUMAN	Q	42	ENSP00000261296:P42Q	ENSP00000261296:P42Q	P	-	2	0	TGDS	94044124	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.419000	0.59835	2.658000	0.90341	0.591000	0.81541	CCA		0.274	TGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106904.2	0	NM_014305		13:95246123
NT5C1B	93034	broad.mit.edu	37	2	18766145	18766145	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:18766145G>T	ENST00000359846.2	-	5	615	c.538C>A	c.(538-540)Ccc>Acc	p.P180T	NT5C1B_ENST00000460052.1_5'Flank|RNU6-1215P_ENST00000384441.1_RNA|NT5C1B_ENST00000600945.1_Missense_Mutation_p.P180T|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.P180T|NT5C1B_ENST00000304081.4_Missense_Mutation_p.P120T	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	180	Pro-rich.				nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				GGCGACGCGGGTGGCTGGAGC	0.716																																						ENST00000304081.4		NA																	0				endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29						c.(358-360)Ccc>Acc		5'-nucleotidase, cytosolic IB							11.0	17.0	15.0					2																	18766145		2123	4096	6219	SO:0001583	missense	93034							g.chr2:18766145G>T	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.538C>A	2.37:g.18766145G>T	ENSP00000352904:p.Pro180Thr	True	False		Somatic	0				NT5C1B_ENST00000359846.2_Missense_Mutation_p.P180T|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.P180T|NT5C1B_ENST00000600945.1_Missense_Mutation_p.P180T	p.P120T	NM_033253.3	NP_150278.2	WXS	Illumina HiSeq	Phase_I					4	458	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)	NA					B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	ENST00000359846.2	37	c.358C>A	CCDS33150.1	.	.	.	.	.	.	.	.	.	.	G	6.708	0.499307	0.12762	.	.	ENSG00000250741;ENSG00000250741;ENSG00000185013;ENSG00000185013;ENSG00000185013	ENST00000532967;ENST00000444297;ENST00000304081;ENST00000359846;ENST00000416783	D	0.88741	-2.42	4.15	-7.42	0.01388	.	0.927161	0.08933	N	0.872669	T	0.69797	0.3151	N	0.12182	0.205	0.09310	N	1	B;B;B;B;B;B;B;B	0.12630	0.001;0.006;0.002;0.001;0.001;0.003;0.006;0.003	B;B;B;B;B;B;B;B	0.10450	0.001;0.003;0.001;0.001;0.001;0.005;0.003;0.005	T	0.57329	-0.7830	10	0.31617	T	0.26	-32.7382	0.5312	0.00629	0.3185:0.1133:0.2234:0.3448	.	163;197;120;163;122;120;180;180	E7EXB7;B4DZ86;B4DXQ9;B4DXZ9;C9J2C7;Q96P26-2;Q96P26;Q96P26-4	.;.;.;.;.;.;5NT1B_HUMAN;.	T	180;122;120;180;197	ENSP00000412639:P122T	ENSP00000305979:P120T	P	-	1	0	NT5C1B-RDH14;NT5C1B	18629626	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.508000	0.06344	-1.893000	0.01106	-1.119000	0.02030	CCC		0.716	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1	0			2:18766145
UGT3A2	167127	broad.mit.edu	37	5	36066823	36066823	+	Silent	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:36066823G>T	ENST00000282507.3	-	1	170	c.69C>A	c.(67-69)gcC>gcA	p.A23A	UGT3A2_ENST00000513300.1_Silent_p.A23A|UGT3A2_ENST00000504954.1_Intron|UGT3A2_ENST00000545528.1_5'UTR	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	23					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCAGGATTTTGGCAGCCTCTG	0.592																																						ENST00000282507.3		NA																	0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43						c.(67-69)gcC>gcA		UDP glycosyltransferase 3 family, polypeptide A2							144.0	150.0	148.0					5																	36066823		2203	4300	6503	SO:0001819	synonymous_variant	167127					integral to membrane	glucuronosyltransferase activity	g.chr5:36066823G>T		CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"""UDP glucuronosyltransferases"""	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.69C>A	5.37:g.36066823G>T		True	False		Somatic	0				UGT3A2_ENST00000513300.1_Silent_p.A23A|UGT3A2_ENST00000545528.1_5'UTR|UGT3A2_ENST00000504954.1_Intron	p.A23A	NM_174914.3	NP_777574.2	WXS	Illumina HiSeq	Phase_I	Q3SY77	UD3A2_HUMAN	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		1	170	-	all_lung(31;0.000179)		23					B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Silent	SNP	ENST00000282507.3	37	c.69C>A	CCDS3914.1																																																																																				0.592	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	0	NM_174914		5:36066823
LY75	4065	broad.mit.edu	37	2	160667045	160667045	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:160667045G>T	ENST00000263636.4	-	32	4718	c.4691C>A	c.(4690-4692)tCa>tAa	p.S1564*	LY75_ENST00000554112.1_Nonsense_Mutation_p.S1564*|LY75-CD302_ENST00000505052.1_Nonsense_Mutation_p.S1564*|LY75_ENST00000553424.1_Nonsense_Mutation_p.S1564*|LY75-CD302_ENST00000504764.1_Nonsense_Mutation_p.S1564*	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	1564	C-type lectin 10. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		ACCATGTTTTGAACACAATTT	0.338																																						ENST00000263636.4		NA																	0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.(4690-4692)tCa>tAa		lymphocyte antigen 75							140.0	148.0	146.0					2																	160667045		2203	4300	6503	SO:0001587	stop_gained	4065							g.chr2:160667045G>T	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.4691C>A	2.37:g.160667045G>T	ENSP00000263636:p.Ser1564*	True	False		Somatic	0				LY75_ENST00000554112.1_Nonsense_Mutation_p.S1564*|LY75-CD302_ENST00000505052.1_Nonsense_Mutation_p.S1564*|LY75-CD302_ENST00000504764.1_Nonsense_Mutation_p.S1564*|LY75_ENST00000553424.1_Nonsense_Mutation_p.S1564*	p.S1564*	NM_002349.3	NP_002340.2	WXS	Illumina HiSeq	Phase_I				COAD - Colon adenocarcinoma(177;0.132)	32	4718	-			NA					O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Nonsense_Mutation	SNP	ENST00000263636.4	37	c.4691C>A	CCDS2211.1	.	.	.	.	.	.	.	.	.	.	G	37	6.470570	0.97594	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	.	.	.	4.91	0.506	0.16961	.	1.146100	0.07019	U	0.826519	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	3.6309	3.151	0.06488	0.0904:0.125:0.3384:0.4462	.	.	.	.	X	1564	.	ENSP00000423463:S1564X	S	-	2	0	LY75;LY75-CD302	160375291	0.054000	0.20591	0.013000	0.15412	0.112000	0.19704	0.597000	0.24059	0.166000	0.19597	0.491000	0.48974	TCA		0.338	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1	0			2:160667045
HYDIN	54768	broad.mit.edu	37	16	70843895	70843895	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr16:70843895C>A	ENST00000393567.2	-	85	14824	c.14674G>T	c.(14674-14676)Gaa>Taa	p.E4892*		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4892					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGCTGAAATTCAAATGAGAAC	0.483																																						ENST00000393567.2		NA																	0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(14674-14676)Gaa>Taa		HYDIN, axonemal central pair apparatus protein							188.0	194.0	192.0					16																	70843895		1938	4135	6073	SO:0001587	stop_gained	54768							g.chr16:70843895C>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.14674G>T	16.37:g.70843895C>A	ENSP00000377197:p.Glu4892*	True	False		Somatic	0					p.E4892*	NM_001270974.1	NP_001257903.1	WXS	Illumina HiSeq	Phase_I	Q4G0P3	HYDIN_HUMAN			85	14824	-		Ovarian(137;0.0654)	4892					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Nonsense_Mutation	SNP	ENST00000393567.2	37	c.14674G>T	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	56	26.157347	0.99968	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	.	.	.	6.08	6.08	0.98989	.	0.000000	0.31797	U	0.007056	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	20.2585	0.98435	0.0:1.0:0.0:0.0	.	.	.	.	X	4892;4891	.	ENSP00000313052:E4891X	E	-	1	0	HYDIN	69401396	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	7.302000	0.78861	2.894000	0.99253	0.655000	0.94253	GAA		0.483	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3	0			16:70843895
C22orf23	84645	broad.mit.edu	37	22	38343336	38343336	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr22:38343336G>T	ENST00000249079.2	-	4	557	c.301C>A	c.(301-303)Caa>Aaa	p.Q101K	C22orf23_ENST00000403026.1_Missense_Mutation_p.Q101K|C22orf23_ENST00000403305.1_Missense_Mutation_p.Q101K			Q9BZE7	EVG1_HUMAN	chromosome 22 open reading frame 23	101										endometrium(3)|kidney(2)|large_intestine(7)	12	Melanoma(58;0.045)					CCATTGGCTTGACACATGTTG	0.597																																						ENST00000249079.2		NA																	0				endometrium(3)|kidney(2)|large_intestine(7)	12						c.(301-303)Caa>Aaa		chromosome 22 open reading frame 23							107.0	95.0	99.0					22																	38343336		2203	4300	6503	SO:0001583	missense	84645							g.chr22:38343336G>T	AF324466	CCDS13962.1, CCDS74860.1	22q13.1	2013-10-11			ENSG00000128346	ENSG00000128346			18589	protein-coding gene	gene with protein product						11237012	Standard	NM_032561		Approved	FLJ32787, EVG1, LOC84645	uc003auj.2	Q9BZE7	OTTHUMG00000150672	ENST00000249079.2:c.301C>A	22.37:g.38343336G>T	ENSP00000249079:p.Gln101Lys	False	False		Somatic	0				C22orf23_ENST00000403305.1_Missense_Mutation_p.Q101K|C22orf23_ENST00000403026.1_Missense_Mutation_p.Q101K	p.Q101K			WXS	Illumina HiSeq	Phase_I	Q9BZE7	EVG1_HUMAN			4	557	-	Melanoma(58;0.045)		101					Q5JYU9|Q96M68	Missense_Mutation	SNP	ENST00000249079.2	37	c.301C>A	CCDS13962.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.240528	0.39598	.	.	ENSG00000128346	ENST00000403305;ENST00000249079;ENST00000403026;ENST00000418863;ENST00000422191	T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03	5.38	5.38	0.77491	.	0.060861	0.64402	D	0.000005	T	0.56659	0.2000	M	0.67953	2.075	0.36778	D	0.884186	D	0.56968	0.978	P	0.54499	0.754	T	0.64478	-0.6398	10	0.48119	T	0.1	-15.7245	17.308	0.87200	0.0:0.0:1.0:0.0	.	101	Q9BZE7	EVG1_HUMAN	K	101	ENSP00000384667:Q101K;ENSP00000249079:Q101K;ENSP00000384618:Q101K;ENSP00000395077:Q101K;ENSP00000407707:Q101K	ENSP00000249079:Q101K	Q	-	1	0	C22orf23	36673282	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.719000	0.68462	2.504000	0.84457	0.555000	0.69702	CAA		0.597	C22orf23-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319564.1	0	NM_032561		22:38343336
MAMDC2	256691	broad.mit.edu	37	9	72785470	72785470	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr9:72785470G>A	ENST00000377182.4	+	11	2191	c.1574G>A	c.(1573-1575)cGg>cAg	p.R525Q	MAMDC2-AS1_ENST00000591368.1_RNA|MAMDC2-AS1_ENST00000420573.1_RNA|MAMDC2-AS1_ENST00000535188.1_RNA|MAMDC2-AS1_ENST00000377178.3_RNA|MAMDC2_ENST00000460688.1_3'UTR|MAMDC2-AS1_ENST00000448377.3_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	525	MAM 4. {ECO:0000255|PROSITE- ProRule:PRU00128}.				peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	endoplasmic reticulum (GO:0005783)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	glycosaminoglycan binding (GO:0005539)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						AAAAGAAACCGGAGCAGCTGG	0.498																																						ENST00000377182.4		NA																	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						c.(1573-1575)cGg>cAg		MAM domain containing 2							80.0	76.0	78.0					9																	72785470		2203	4300	6503	SO:0001583	missense	256691					endoplasmic reticulum|membrane		g.chr9:72785470G>A	BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072			23673	protein-coding gene	gene with protein product		612879					Standard	NM_153267		Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.1574G>A	9.37:g.72785470G>A	ENSP00000366387:p.Arg525Gln	False	False		Somatic	0				MAMDC2-AS1_ENST00000448377.3_RNA|MAMDC2-AS1_ENST00000591368.1_RNA|MAMDC2-AS1_ENST00000377178.3_RNA|MAMDC2-AS1_ENST00000535188.1_RNA|MAMDC2_ENST00000460688.1_3'UTR	p.R525Q	NM_153267.4	NP_694999.3	WXS	Illumina HiSeq	Phase_I	Q7Z304	MAMC2_HUMAN			11	2191	+			525			MAM 4.		Q5VW47|Q8WX43|Q96BM4	Missense_Mutation	SNP	ENST00000377182.4	37	c.1574G>A	CCDS6631.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995045	0.74703	.	.	ENSG00000165072	ENST00000377182	T	0.01963	4.53	5.25	4.33	0.51752	Concanavalin A-like lectin/glucanase (1);MAM domain (4);	0.500904	0.21233	N	0.077953	T	0.02767	0.0083	N	0.16478	0.41	0.43118	D	0.994837	P	0.40602	0.723	B	0.44315	0.446	T	0.67799	-0.5577	10	0.25106	T	0.35	-12.7011	15.9892	0.80188	0.0:0.1352:0.8648:0.0	.	525	Q7Z304	MAMC2_HUMAN	Q	525	ENSP00000366387:R525Q	ENSP00000366387:R525Q	R	+	2	0	MAMDC2	71975290	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.458000	0.66679	1.297000	0.44761	0.491000	0.48974	CGG		0.498	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052600.1	0	NM_153267		9:72785470
LRRC37A6P	387646	broad.mit.edu	37	10	27535836	27535836	+	lincRNA	SNP	T	T	C			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr10:27535836T>C	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							GGCCCTAAGTTGAATGCAGTC	0.453																																						ENST00000574842.1		NA																	0					NA																																														0							g.chr10:27535836T>C																													10.37:g.27535836T>C		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	255	+			NA						RNA	SNP	ENST00000574842.1	37																																																																																						0.453	RP11-85G18.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000436904.1	0			10:27535836
GFRAL	389400	broad.mit.edu	37	6	55216353	55216353	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr6:55216353C>T	ENST00000340465.2	+	5	759	c.673C>T	c.(673-675)Cgc>Tgc	p.R225C		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	225					negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CAGTGTAATTCGCAGCTGCCA	0.428																																						ENST00000340465.2		NA																	0				NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48						c.(673-675)Cgc>Tgc		GDNF family receptor alpha like							64.0	65.0	65.0					6																	55216353		2203	4300	6503	SO:0001583	missense	389400					integral to membrane	receptor activity	g.chr6:55216353C>T	AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 144"""	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.673C>T	6.37:g.55216353C>T	ENSP00000343636:p.Arg225Cys	False	False		Somatic	0					p.R225C	NM_207410.2	NP_997293.2	WXS	Illumina HiSeq	Phase_I	Q6UXV0	GFRAL_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		5	759	+	Lung NSC(77;0.0875)|Renal(3;0.122)		225					Q5VTF6	Missense_Mutation	SNP	ENST00000340465.2	37	c.673C>T	CCDS4957.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588449	0.86851	.	.	ENSG00000187871	ENST00000340465	T	0.64991	-0.13	6.05	6.05	0.98169	GDNF/GAS1 (2);	0.376195	0.29424	N	0.012190	T	0.62551	0.2437	L	0.34521	1.04	0.43014	D	0.994552	D	0.67145	0.996	P	0.56788	0.806	T	0.64084	-0.6490	10	0.62326	D	0.03	-2.3631	20.6087	0.99469	0.0:1.0:0.0:0.0	.	225	Q6UXV0	GFRAL_HUMAN	C	225	ENSP00000343636:R225C	ENSP00000343636:R225C	R	+	1	0	GFRAL	55324312	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	3.954000	0.56708	2.866000	0.98385	0.650000	0.86243	CGC		0.428	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040995.2	0	NM_207410		6:55216353
RABGAP1	23637	broad.mit.edu	37	9	125835869	125835869	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr9:125835869C>A	ENST00000373647.4	+	16	2156	c.2022C>A	c.(2020-2022)atC>atA	p.I674I	RABGAP1_ENST00000493854.1_3'UTR|RABGAP1_ENST00000373643.5_Silent_p.I13I	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	674	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						TGGTCAAGATCATGTTTGACT	0.438																																						ENST00000373647.4		NA																	0				breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						c.(2020-2022)atC>atA		RAB GTPase activating protein 1							171.0	162.0	165.0					9																	125835869		2203	4300	6503	SO:0001819	synonymous_variant	23637				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding	g.chr9:125835869C>A	AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"""rab6 GTPase activating protein (GAP and centrosome-associated)"", ""TBC1 domain family, member 11"""	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.2022C>A	9.37:g.125835869C>A		False	False		Somatic	0				RABGAP1_ENST00000493854.1_3'UTR|RABGAP1_ENST00000373643.5_Silent_p.I13I	p.I674I	NM_012197.3	NP_036329.3	WXS	Illumina HiSeq	Phase_I	Q9Y3P9	RBGP1_HUMAN			16	2156	+			674			Rab-GAP TBC.		B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Silent	SNP	ENST00000373647.4	37	c.2022C>A	CCDS6848.2																																																																																				0.438	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	0	NM_012197		9:125835869
TUBA8	51807	broad.mit.edu	37	22	18606952	18606952	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr22:18606952C>T	ENST00000330423.3	+	3	329	c.256C>T	c.(256-258)Ctc>Ttc	p.L86F	TUBA8_ENST00000316027.6_Missense_Mutation_p.L20F	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	86					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						CTACCGCCAGCTCTTCCATCC	0.582																																						ENST00000330423.3		NA																	0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						c.(256-258)Ctc>Ttc		tubulin, alpha 8							65.0	60.0	62.0					22																	18606952		2203	4300	6503	SO:0001583	missense	51807				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr22:18606952C>T	AJ245922	CCDS13751.1, CCDS54495.1	22q11	2005-06-11			ENSG00000183785	ENSG00000183785		"""Tubulins"""	12410	protein-coding gene	gene with protein product		605742		TUBAL2		10772959, 10591208	Standard	NM_001193414		Approved		uc002znv.2	Q9NY65	OTTHUMG00000150097	ENST00000330423.3:c.256C>T	22.37:g.18606952C>T	ENSP00000333326:p.Leu86Phe	False	False		Somatic	0				TUBA8_ENST00000316027.6_Missense_Mutation_p.L20F	p.L86F	NM_018943.2	NP_061816.1	WXS	Illumina HiSeq	Phase_I	Q9NY65	TBA8_HUMAN			3	329	+			86					B2RCX2|B3KPW9|B4DWG3|Q2M3N4	Missense_Mutation	SNP	ENST00000330423.3	37	c.256C>T	CCDS13751.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.565399	0.65651	.	.	ENSG00000183785	ENST00000426208;ENST00000316027;ENST00000330423;ENST00000416740	T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56	5.11	5.11	0.69529	Tubulin/FtsZ, GTPase domain (4);	0.065611	0.64402	N	0.000012	D	0.88599	0.6480	H	0.95224	3.64	0.54753	D	0.999981	P;D;P	0.76494	0.767;0.999;0.767	B;D;B	0.67103	0.356;0.949;0.36	D	0.91998	0.5608	10	0.87932	D	0	.	17.8832	0.88846	0.0:1.0:0.0:0.0	.	110;86;85	C9J2C0;Q9NY65;Q7Z3M3	.;TBA8_HUMAN;.	F	20;20;86;110	ENSP00000407624:L20F;ENSP00000318575:L20F;ENSP00000333326:L86F;ENSP00000412646:L110F	ENSP00000318575:L20F	L	+	1	0	TUBA8	16986952	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.554000	0.86153	0.462000	0.41574	CTC		0.582	TUBA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316232.3	0	NM_018943		22:18606952
ZNF280A	129025	broad.mit.edu	37	22	22868515	22868515	+	Silent	SNP	C	C	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr22:22868515C>T	ENST00000302097.3	-	2	1692	c.1440G>A	c.(1438-1440)ccG>ccA	p.P480P		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	480					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GCAGTTGCTCCGGCTTTTTAA	0.443																																						ENST00000302097.3		NA																	0				endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18						c.(1438-1440)ccG>ccA		zinc finger protein 280A							133.0	118.0	123.0					22																	22868515		2203	4300	6503	SO:0001819	synonymous_variant	129025				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22868515C>T	D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"""zinc finger protein 280"", ""suppressor of hairy wing homolog 1 (Drosophila)"""	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.1440G>A	22.37:g.22868515C>T		False	False		Somatic	0					p.P480P	NM_080740.3	NP_542778.1	WXS	Illumina HiSeq	Phase_I	P59817	Z280A_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	2	1692	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	480						Silent	SNP	ENST00000302097.3	37	c.1440G>A	CCDS13800.1																																																																																				0.443	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3	0	NM_080740		22:22868515
RITA1	84934	broad.mit.edu	37	12	113624632	113624632	+	Silent	SNP	C	C	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:113624632C>T	ENST00000548278.1	+	3	773	c.81C>T	c.(79-81)gtC>gtT	p.V27V	C12orf52_ENST00000549621.1_Silent_p.V27V|RP11-545P7.4_ENST00000552525.1_RNA|DDX54_ENST00000314045.7_5'Flank|C12orf52_ENST00000552495.1_Silent_p.V51V|DDX54_ENST00000306014.5_5'Flank	NM_032848.1	NP_116237.1	Q96K30	RITA1_HUMAN		27					negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|Notch signaling pathway (GO:0007219)|nuclear export (GO:0051168)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	tubulin binding (GO:0015631)			large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						GCTACCGGGTCAAGGCCAGGA	0.652																																						ENST00000548278.1		NA																	0				large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						c.(79-81)gtC>gtT		chromosome 12 open reading frame 52							51.0	46.0	48.0					12																	113624632		2203	4300	6503	SO:0001819	synonymous_variant	84934				negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export	centrosome|nucleus	tubulin binding	g.chr12:113624632C>T																												ENST00000548278.1:c.81C>T	12.37:g.113624632C>T		False	False		Somatic	0				C12orf52_ENST00000552495.1_Silent_p.V51V|C12orf52_ENST00000549621.1_Silent_p.V27V|RP11-545P7.4_ENST00000552525.1_RNA	p.V27V	NM_032848.1	NP_116237.1	WXS	Illumina HiSeq	Phase_I	Q96K30	RITA_HUMAN			3	773	+			27					B3KVZ4|C9JIN1|F8VRG5|Q53GM3|Q96K25	Silent	SNP	ENST00000548278.1	37	c.81C>T	CCDS9166.1																																																																																				0.652	C12orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405239.1	0			12:113624632
DIMT1	27292	broad.mit.edu	37	5	61699154	61699154	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:61699154C>A	ENST00000199320.4	-	2	259	c.99G>T	c.(97-99)ggG>ggT	p.G33G	KIF2A_ENST00000509663.2_Intron|DIMT1_ENST00000506390.1_Silent_p.G33G	NM_014473.2	NP_055288.1	Q9UNQ2	DIM1_HUMAN	DIM1 dimethyladenosine transferase 1 homolog (S. cerevisiae)	33						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	18S rRNA (adenine(1779)-N(6)/adenine(1780)-N(6))-dimethyltransferase activity (GO:0052909)|poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)										GCTGCCCAATCCCCGTGTTGA	0.388																																						ENST00000199320.4		NA																	0					NA						c.(97-99)ggG>ggT		DIM1 dimethyladenosine transferase 1 homolog (S. cerevisiae)							146.0	140.0	142.0					5																	61699154		2203	4300	6503	SO:0001819	synonymous_variant	27292					nucleolus	RNA binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity	g.chr5:61699154C>A	AF102147	CCDS3981.1	5q12.1	2011-08-11	2011-08-11	2011-08-11	ENSG00000086189	ENSG00000086189			30217	protein-coding gene	gene with protein product		612499	"""DIM1 dimethyladenosine transferase 1-like (S. cerevisiae)"""	DIMT1L		11124703	Standard	NM_014473		Approved	HSA9761	uc003jta.3	Q9UNQ2	OTTHUMG00000131223	ENST00000199320.4:c.99G>T	5.37:g.61699154C>A		True	False		Somatic	0				DIMT1_ENST00000506390.1_Silent_p.G33G|KIF2A_ENST00000509663.2_Intron	p.G33G	NM_014473.2	NP_055288.1	WXS	Illumina HiSeq	Phase_I	Q9UNQ2	DIMT1_HUMAN			2	259	-			33					O76025|Q9BU77|Q9UES1	Silent	SNP	ENST00000199320.4	37	c.99G>T	CCDS3981.1																																																																																				0.388	DIMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253967.1	0	NM_014473		5:61699154
HTR2A	3356	broad.mit.edu	37	13	47409499	47409499	+	Missense_Mutation	SNP	G	G	A	rs376305063		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr13:47409499G>A	ENST00000378688.4	-	3	1020	c.889C>T	c.(889-891)Cgg>Tgg	p.R297W	HTR2A_ENST00000542664.1_Missense_Mutation_p.R297W|HTR2A_ENST00000543956.1_Missense_Mutation_p.R213W			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	297					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TGGATCGACCGCTGGAAGAGC	0.502																																						ENST00000378688.4		NA																	0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(889-891)Cgg>Tgg		5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	G	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	85.0	76.0	79.0		889,637	0.5	1.0	13		79	0,8600	1.2+/-3.3	0,0,4300	no	missense,missense	HTR2A	NM_000621.3,NM_001165947.1	101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	297/472,213/388	47409499	1,13005	2203	4300	6503	SO:0001583	missense	3356				ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity	g.chr13:47409499G>A	X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5293	protein-coding gene	gene with protein product		182135	"""5-hydroxytryptamine (serotonin) receptor 2A"""	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.889C>T	13.37:g.47409499G>A	ENSP00000367959:p.Arg297Trp	False	False		Somatic	0				HTR2A_ENST00000542664.1_Missense_Mutation_p.R297W|HTR2A_ENST00000543956.1_Missense_Mutation_p.R213W	p.R297W			WXS	Illumina HiSeq	Phase_I	P28223	5HT2A_HUMAN		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	3	1020	-		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)	297					B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Missense_Mutation	SNP	ENST00000378688.4	37	c.889C>T	CCDS9405.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180129	0.57800	2.27E-4	0.0	ENSG00000102468	ENST00000378688;ENST00000543956;ENST00000542664	T;T;T	0.63417	0.27;-0.04;0.27	5.78	0.475	0.16774	GPCR, rhodopsin-like superfamily (1);	0.124540	0.53938	D	0.000048	T	0.81536	0.4843	M	0.91872	3.25	0.45477	D	0.998448	D;D	0.89917	0.999;1.0	D;D	0.74348	0.94;0.983	D	0.84763	0.0763	10	0.62326	D	0.03	.	15.9291	0.79646	0.0:0.0:0.4023:0.5977	.	213;297	F5GWE8;P28223	.;5HT2A_HUMAN	W	297;213;297	ENSP00000367959:R297W;ENSP00000441861:R213W;ENSP00000437737:R297W	ENSP00000367959:R297W	R	-	1	2	HTR2A	46307500	1.000000	0.71417	0.984000	0.44739	0.974000	0.67602	3.113000	0.50376	-0.155000	0.11098	-0.293000	0.09583	CGG		0.502	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044835.3	0	NM_000621		13:47409499
PYHIN1	149628	broad.mit.edu	37	1	158908227	158908227	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:158908227C>A	ENST00000368140.1	+	3	551	c.306C>A	c.(304-306)atC>atA	p.I102I	PYHIN1_ENST00000392252.3_Silent_p.I93I|PYHIN1_ENST00000368135.4_Silent_p.I102I|PYHIN1_ENST00000368138.3_Silent_p.I93I|PYHIN1_ENST00000392254.2_Silent_p.I102I	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	102					cell cycle (GO:0007049)	nucleus (GO:0005634)				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AAGGAATAATCCCATCTAAAA	0.443																																						ENST00000368140.1		NA																	0				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(304-306)atC>atA		pyrin and HIN domain family, member 1							114.0	110.0	112.0					1																	158908227		2203	4300	6503	SO:0001819	synonymous_variant	149628				cell cycle	nuclear speck		g.chr1:158908227C>A	AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.306C>A	1.37:g.158908227C>A		True	False		Somatic	0				PYHIN1_ENST00000392252.3_Silent_p.I93I|PYHIN1_ENST00000368135.4_Silent_p.I102I|PYHIN1_ENST00000392254.2_Silent_p.I102I|PYHIN1_ENST00000368138.3_Silent_p.I93I	p.I102I	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	WXS	Illumina HiSeq	Phase_I	Q6K0P9	IFIX_HUMAN			3	551	+	all_hematologic(112;0.0378)		102					Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Silent	SNP	ENST00000368140.1	37	c.306C>A	CCDS1178.1																																																																																				0.443	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	0	NM_152501		1:158908227
CSF2RB	1439	broad.mit.edu	37	22	37333569	37333569	+	Silent	SNP	G	G	A	rs140662059		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr22:37333569G>A	ENST00000403662.3	+	14	1941	c.1719G>A	c.(1717-1719)ccG>ccA	p.P573P	CSF2RB_ENST00000262825.5_Silent_p.P579P|CSF2RB_ENST00000536485.1_Silent_p.P520P|CSF2RB_ENST00000406230.1_Silent_p.P579P			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	573					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	AGCCAGGCCCGCCTGCCGCCT	0.647																																						ENST00000262825.5		NA																	0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42						c.(1735-1737)ccG>ccA		colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	Sargramostim(DB00020)	G		0,4404		0,0,2202	21.0	24.0	23.0		1719	-10.7	0.0	22	dbSNP_134	23	2,8592		0,2,4295	no	coding-synonymous	CSF2RB	NM_000395.2		0,2,6497	AA,AG,GG		0.0233,0.0,0.0154		573/898	37333569	2,12996	2202	4297	6499	SO:0001819	synonymous_variant	1439				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	g.chr22:37333569G>A	M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"""CD molecules"", ""Fibronectin type III domain containing"""	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.1719G>A	22.37:g.37333569G>A		True	False		Somatic	0				CSF2RB_ENST00000406230.1_Silent_p.P579P|CSF2RB_ENST00000536485.1_Silent_p.P520P|CSF2RB_ENST00000403662.3_Silent_p.P573P	p.P579P	NM_000395.2	NP_000386.1	WXS	Illumina HiSeq	Phase_I	P32927	IL3RB_HUMAN			14	1954	+			573					Q5JZI1|Q6ICE0	Silent	SNP	ENST00000403662.3	37	c.1737G>A	CCDS13936.1																																																																																				0.647	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	0	NM_000395		22:37333569
SMC1B	27127	broad.mit.edu	37	22	45765841	45765841	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr22:45765841G>T	ENST00000357450.4	-	15	2412	c.2413C>A	c.(2413-2415)Caa>Aaa	p.Q805K	SMC1B_ENST00000404354.3_Missense_Mutation_p.Q805K	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	805					meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TACCTTTTTTGATCAATTTCT	0.294																																						ENST00000357450.4		NA																	0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(2413-2415)Caa>Aaa		structural maintenance of chromosomes 1B							48.0	48.0	48.0					22																	45765841		1791	4053	5844	SO:0001583	missense	27127				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	g.chr22:45765841G>T	AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"""Structural maintenance of chromosomes proteins"""	11112	protein-coding gene	gene with protein product		608685	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"""	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.2413C>A	22.37:g.45765841G>T	ENSP00000350036:p.Gln805Lys	True	False		Somatic	0				SMC1B_ENST00000404354.3_Missense_Mutation_p.Q805K	p.Q805K	NM_148674.3	NP_683515.3	WXS	Illumina HiSeq	Phase_I	Q8NDV3	SMC1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	15	2412	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	805					A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	ENST00000357450.4	37	c.2413C>A	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	G	3.668	-0.068042	0.07228	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	T;T	0.77877	-1.13;-0.93	5.79	3.6	0.41247	RecF/RecN/SMC (1);	0.107611	0.40064	N	0.001198	T	0.45617	0.1351	N	0.01289	-0.905	0.29170	N	0.877191	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.11329	0.006;0.002;0.001	T	0.37454	-0.9705	10	0.02654	T	1	.	12.0528	0.53515	0.0:0.0:0.4371:0.5629	.	805;805;805	Q8NDV3;Q8NDV3-2;Q8NDV3-3	SMC1B_HUMAN;.;.	K	805	ENSP00000350036:Q805K;ENSP00000385902:Q805K	ENSP00000350036:Q805K	Q	-	1	0	SMC1B	44144505	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.708000	0.61859	1.423000	0.47198	0.585000	0.79938	CAA		0.294	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	0	NM_148674		22:45765841
OTOGL	283310	broad.mit.edu	37	12	80749714	80749714	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:80749714C>A	ENST00000547103.1	+	46	5735	c.5729C>A	c.(5728-5730)tCa>tAa	p.S1910*	OTOGL_ENST00000546620.1_5'Flank|OTOGL_ENST00000458043.2_Nonsense_Mutation_p.S1922*			Q3ZCN5	OTOGL_HUMAN	otogelin-like	1910	Cys-rich.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ACCTGCTGTTCAAAGGAAGTT	0.383																																						ENST00000458043.2		NA																	0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						c.(5764-5766)tCa>tAa		otogelin-like							225.0	208.0	213.0					12																	80749714		1892	4133	6025	SO:0001587	stop_gained	283310							g.chr12:80749714C>A	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.5729C>A	12.37:g.80749714C>A	ENSP00000447211:p.Ser1910*	True	False		Somatic	0				OTOGL_ENST00000547103.1_Nonsense_Mutation_p.S1910*	p.S1922*	NM_173591.3	NP_775862.3	WXS	Illumina HiSeq	Phase_I					46	5771	+			NA					F8W0C3|Q495U8|Q8N8G5|Q8NC28	Nonsense_Mutation	SNP	ENST00000547103.1	37	c.5765C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	47|47	13.174025|13.174025	0.99725|0.99725	.|.	.|.	ENSG00000165899|ENSG00000165899	ENST00000298820|ENST00000547103;ENST00000458043	.|.	.|.	.|.	5.18|5.18	4.28|4.28	0.50868|0.50868	.|.	.|.	.|.	.|.	.|.	T|.	0.62575|.	0.2439|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.69499|.	-0.5129|.	3|.	.|.	.|.	.|.	.|.	13.1075|13.1075	0.59255|0.59255	0.0:0.9231:0.0:0.0768|0.0:0.9231:0.0:0.0768	.|.	.|.	.|.	.|.	K|X	365|1910;1922	.|.	.|.	Q|S	+|+	1|2	0|0	OTOGL|OTOGL	79273845|79273845	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.818000|0.818000	0.46254|0.46254	2.234000|2.234000	0.43035|0.43035	2.417000|2.417000	0.82017|0.82017	0.591000|0.591000	0.81541|0.81541	CAA|TCA		0.383	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	0	NM_173591		12:80749714
MPP3	4356	broad.mit.edu	37	17	41886383	41886383	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:41886383G>T	ENST00000398389.4	-	19	1687	c.1522C>A	c.(1522-1524)Cag>Aag	p.Q508K	MPP3_ENST00000398393.1_Missense_Mutation_p.Q533K	NM_001932.4	NP_001923.2	Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	508	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	guanylate kinase activity (GO:0004385)			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		CTTTTTTCCTGAATTGCAGGC	0.378																																						ENST00000398393.1		NA																	0				endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26						c.(1597-1599)Cag>Aag		membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)							131.0	129.0	130.0					17																	41886383		1813	4072	5885	SO:0001583	missense	4356				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity	g.chr17:41886383G>T		CCDS42344.1	17q12-q21	2008-07-18			ENSG00000161647	ENSG00000161647			7221	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 3"", ""discs, large (Drosophila) homolog 3"", ""membrane protein palmitoylated 3"""	601114		DLG3		8824795	Standard	NR_003562		Approved		uc002iei.4	Q13368	OTTHUMG00000133838	ENST00000398389.4:c.1522C>A	17.37:g.41886383G>T	ENSP00000381425:p.Gln508Lys	False	False		Somatic	0				MPP3_ENST00000398389.4_Missense_Mutation_p.Q508K	p.Q533K			WXS	Illumina HiSeq	Phase_I	Q13368	MPP3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.119)	17	1857	-		Breast(137;0.00394)	508			Guanylate kinase-like.		B2R7N0|D3DX47|Q4GX05|Q6PGR3|Q86SV1	Missense_Mutation	SNP	ENST00000398389.4	37	c.1597C>A	CCDS42344.1	.	.	.	.	.	.	.	.	.	.	G	8.912	0.959001	0.18507	.	.	ENSG00000161647	ENST00000398393;ENST00000398389	T;T	0.15603	2.41;2.41	5.36	5.36	0.76844	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.278923	0.35291	N	0.003309	T	0.10937	0.0267	N	0.12471	0.22	0.29701	N	0.840156	B;B	0.18741	0.03;0.03	B;B	0.29440	0.071;0.102	T	0.13737	-1.0498	10	0.25751	T	0.34	.	11.4234	0.49996	0.0828:0.0:0.9172:0.0	.	508;533	Q13368;D3DX46	MPP3_HUMAN;.	K	533;508	ENSP00000381430:Q533K;ENSP00000381425:Q508K	ENSP00000381425:Q508K	Q	-	1	0	MPP3	39241909	0.999000	0.42202	0.988000	0.46212	0.988000	0.76386	3.512000	0.53407	2.782000	0.95742	0.655000	0.94253	CAG		0.378	MPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258371.1	0	NM_001932		17:41886383
OXCT1	5019	broad.mit.edu	37	5	41840613	41840613	+	Splice_Site	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:41840613C>A	ENST00000196371.5	-	7	832	c.672G>T	c.(670-672)agG>agT	p.R224S	OXCT1_ENST00000509987.1_Splice_Site_p.R38S	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	224					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular response to acid chemical (GO:0071229)|cellular response to glucose stimulus (GO:0071333)|heart development (GO:0007507)|ketone body catabolic process (GO:0046952)|ketone catabolic process (GO:0042182)|positive regulation of insulin secretion (GO:0032024)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hormone (GO:0009725)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-oxoacid CoA-transferase activity (GO:0008260)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	TTGCACTTTTCCTACAGGGGT	0.368																																						ENST00000196371.5		NA																	0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28						c.(670-672)agG>agT		3-oxoacid CoA transferase 1	Succinic acid(DB00139)						99.0	107.0	104.0					5																	41840613		2203	4300	6503	SO:0001630	splice_region_variant	5019				cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity	g.chr5:41840613C>A	U62961	CCDS3937.1	5p13	2008-02-05		2004-05-12	ENSG00000083720	ENSG00000083720			8527	protein-coding gene	gene with protein product		601424	"""3-oxoacid CoA transferase"""	OXCT		8751852	Standard	NM_000436		Approved	SCOT	uc003jmn.3	P55809	OTTHUMG00000094783	ENST00000196371.5:c.672-1G>T	5.37:g.41840613C>A		True	False		Somatic	0				OXCT1_ENST00000509987.1_Splice_Site_p.R38S	p.R224S	NM_000436.3	NP_000427.1	WXS	Illumina HiSeq	Phase_I	P55809	SCOT1_HUMAN			7	832	-			224					B2R5V2|B7Z528	Splice_Site	SNP	ENST00000196371.5	37	c.672G>T	CCDS3937.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461521	0.63513	.	.	ENSG00000083720	ENST00000196371;ENST00000546045;ENST00000509987	D;D	0.88354	-2.37;-2.37	5.98	5.98	0.97165	3-oxoacid CoA-transferase, subunit A (1);	0.137880	0.64402	D	0.000003	D	0.94401	0.8199	M	0.85373	2.75	0.52099	D	0.999947	D	0.76494	0.999	D	0.69479	0.964	D	0.94619	0.7811	10	0.87932	D	0	.	13.6254	0.62161	0.0:0.9297:0.0:0.0702	.	224	P55809	SCOT1_HUMAN	S	224;136;38	ENSP00000196371:R224S;ENSP00000425348:R38S	ENSP00000196371:R224S	R	-	3	2	OXCT1	41876370	1.000000	0.71417	1.000000	0.80357	0.400000	0.30750	3.218000	0.51192	2.835000	0.97688	0.650000	0.86243	AGG		0.368	OXCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211594.2	0	NM_000436	Missense_Mutation	5:41840613
PITPNM2	57605	broad.mit.edu	37	12	123494616	123494616	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:123494616C>A	ENST00000542749.1	-	4	487	c.424G>T	c.(424-426)Gac>Tac	p.D142Y	PITPNM2_ENST00000280562.5_Missense_Mutation_p.D142Y|PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000320201.4_Missense_Mutation_p.D142Y|PITPNM2_ENST00000546049.1_Missense_Mutation_p.D142Y|PITPNM2_ENST00000451868.2_5'UTR|MIR4304_ENST00000580964.1_RNA			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	142					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TTGACAATGTCGATGAAGTCT	0.567																																						ENST00000280562.5		NA																	0				NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39						c.(424-426)Gac>Tac		phosphatidylinositol transfer protein, membrane-associated 2							75.0	75.0	75.0					12																	123494616		2203	4300	6503	SO:0001583	missense	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123494616C>A	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.424G>T	12.37:g.123494616C>A	ENSP00000437611:p.Asp142Tyr	False	False		Somatic	0				PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000542749.1_Missense_Mutation_p.D142Y|PITPNM2_ENST00000320201.4_Missense_Mutation_p.D142Y|PITPNM2_ENST00000546049.1_Missense_Mutation_p.D142Y|PITPNM2_ENST00000451868.2_5'UTR	p.D142Y			WXS	Illumina HiSeq	Phase_I	Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	5	629	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		142					Q9P271	Missense_Mutation	SNP	ENST00000542749.1	37	c.424G>T	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.527356	0.85706	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000542749	T;T;T	0.72615	-0.67;-0.67;-0.67	4.96	4.96	0.65561	START-like domain (1);	0.000000	0.85682	D	0.000000	D	0.90184	0.6932	H	0.97465	4.01	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.93731	0.7041	10	0.87932	D	0	-45.2378	18.5728	0.91142	0.0:1.0:0.0:0.0	.	142;142;142	A5D8U3;Q9BZ72-2;Q9BZ72	.;.;PITM2_HUMAN	Y	142	ENSP00000280562:D142Y;ENSP00000322218:D142Y;ENSP00000437611:D142Y	ENSP00000280562:D142Y	D	-	1	0	PITPNM2	122060569	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.609000	0.82925	2.479000	0.83701	0.655000	0.94253	GAC		0.567	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	0	NM_020845		12:123494616
C1orf110	339512	broad.mit.edu	37	1	162824970	162824970	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:162824970G>T	ENST00000367910.1	-	4	614	c.494C>A	c.(493-495)cCa>cAa	p.P165Q	C1orf110_ENST00000524691.1_Intron|C1orf110_ENST00000367912.2_Missense_Mutation_p.P164Q|C1orf110_ENST00000367911.2_Missense_Mutation_p.P160Q	NM_178550.4	NP_848645.3	Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	165										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						GTCCTTAGATGGATTCACAGA	0.473																																						ENST00000367912.2		NA																	0				endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						c.(490-492)cCa>cAa		chromosome 1 open reading frame 110							266.0	255.0	259.0					1																	162824970		1912	4131	6043	SO:0001583	missense	339512							g.chr1:162824970G>T	BC040018	CCDS44269.1	1q23.3	2012-06-26			ENSG00000185860	ENSG00000185860			28736	protein-coding gene	gene with protein product						12477932	Standard	NM_178550		Approved	MGC48998	uc001gck.2	Q86UF4	OTTHUMG00000034421	ENST00000367910.1:c.494C>A	1.37:g.162824970G>T	ENSP00000356886:p.Pro165Gln	False	False		Somatic	0				C1orf110_ENST00000524691.1_Intron|C1orf110_ENST00000367911.2_Missense_Mutation_p.P160Q|C1orf110_ENST00000367910.1_Missense_Mutation_p.P165Q	p.P164Q			WXS	Illumina HiSeq	Phase_I	Q86UF4	CA110_HUMAN			4	665	-			NA					Q5JSG1|Q6ZW57	Missense_Mutation	SNP	ENST00000367910.1	37	c.491C>A	CCDS44269.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.313572	0.40996	.	.	ENSG00000185860	ENST00000367912;ENST00000367911;ENST00000367910	.	.	.	4.22	2.33	0.28932	.	0.264448	0.27331	N	0.019843	T	0.32466	0.0830	L	0.36672	1.1	0.31767	N	0.6326149999999999	D;D	0.55385	0.971;0.971	P;P	0.56042	0.79;0.79	T	0.26155	-1.0111	8	0.87932	D	0	-1.0E-4	6.5268	0.22305	0.221:0.0:0.779:0.0	.	164;165	Q86UF4-2;Q86UF4	.;CA110_HUMAN	Q	164;160;165	.	ENSP00000356886:P165Q	P	-	2	0	C1orf110	161091594	0.011000	0.17503	0.001000	0.08648	0.014000	0.08584	1.584000	0.36589	0.517000	0.28361	0.655000	0.94253	CCA		0.473	C1orf110-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083211.2	0	NM_178550		1:162824970
OR2M2	391194	broad.mit.edu	37	1	248344093	248344093	+	Missense_Mutation	SNP	C	C	T	rs149761766		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:248344093C>T	ENST00000359682.2	+	1	806	c.806C>T	c.(805-807)aCg>aTg	p.T269M		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	269						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CACTCCCCAACGCAGGACAAG	0.502																																						ENST00000359682.2		NA																	0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70						c.(805-807)aCg>aTg		olfactory receptor, family 2, subfamily M, member 2		T	MET/THR	0,4406		0,0,2203	212.0	189.0	197.0		806	-4.1	0.0	1	dbSNP_134	197	1,8599	819.2+/-406.8	0,1,4299	no	missense	OR2M2	NM_001004688.1	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	269/348	248344093	1,13005	2203	4300	6503	SO:0001583	missense	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248344093C>T	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.806C>T	1.37:g.248344093C>T	ENSP00000352710:p.Thr269Met	False	False		Somatic	0					p.T269M	NM_001004688.1	NP_001004688.1	WXS	Illumina HiSeq	Phase_I	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	806	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		269					A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	c.806C>T	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	t	1.263	-0.615211	0.03663	0.0	1.16E-4	ENSG00000198601	ENST00000359682	T	0.00123	8.7	2.03	-4.06	0.03986	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00178	0.0005	M	0.70275	2.135	0.09310	N	1	B	0.28439	0.212	B	0.29598	0.104	T	0.38178	-0.9673	9	0.51188	T	0.08	.	10.6476	0.45630	0.2235:0.6609:0.0:0.1157	.	269	Q96R28	OR2M2_HUMAN	M	269	ENSP00000352710:T269M	ENSP00000352710:T269M	T	+	2	0	OR2M2	246410716	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.426000	0.00036	-3.968000	0.00086	-3.185000	0.00055	ACG		0.502	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	0	NM_001004688		1:248344093
PLEKHA8P1	51054	broad.mit.edu	37	12	45567702	45567702	+	RNA	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:45567702G>T	ENST00000256692.5	-	0	983					NR_037144.1		O95397	PKHA9_HUMAN	pleckstrin homology domain containing, family A member 8 pseudogene 1							cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CACCTTGGACGGTTATATTAT	0.343																																						ENST00000256692.5		NA																	0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26															95.0	94.0	94.0					12																	45567702		2203	4300	6503			0							g.chr12:45567702G>T	AF103731		12q12	2010-11-24	2010-11-24	2010-11-24	ENSG00000134297	ENSG00000134297			30222	pseudogene	pseudogene	"""putative glycolipid transfer protein"""		"""pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 9"""	PLEKHA9		12477932	Standard	NR_037144		Approved	FLJ14156	uc001rom.2	O95397			12.37:g.45567702G>T		False	False		Somatic	0						NR_037144.1		WXS	Illumina HiSeq	Phase_I					0	983	-			NA						RNA	SNP	ENST00000256692.5	37																																																																																						0.343	PLEKHA8P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000404814.1	0	NR_037144		12:45567702
CRNN	49860	broad.mit.edu	37	1	152383339	152383339	+	Silent	SNP	T	T	C			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:152383339T>C	ENST00000271835.3	-	3	281	c.219A>G	c.(217-219)gaA>gaG	p.E73E	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	73	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACCAGGAATTCCTTGAATT	0.537																																						ENST00000271835.3		NA																	0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(217-219)gaA>gaG		cornulin							60.0	64.0	63.0					1																	152383339		2200	4299	6499	SO:0001819	synonymous_variant	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152383339T>C	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"""EF-hand domain containing"""	1230	protein-coding gene	gene with protein product		611312	"""chromosome 1 open reading frame 10"""	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.219A>G	1.37:g.152383339T>C		False	False		Somatic	0				RP1-91G5.3_ENST00000411804.1_RNA	p.E73E	NM_016190.2	NP_057274.1	WXS	Illumina HiSeq	Phase_I	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	281	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		73			EF-hand.		B2RE60|Q8N613	Silent	SNP	ENST00000271835.3	37	c.219A>G	CCDS1010.1																																																																																				0.537	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	0	NM_016190		1:152383339
MRPL3	11222	broad.mit.edu	37	3	131219286	131219286	+	Silent	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:131219286G>T	ENST00000264995.3	-	3	504	c.357C>A	c.(355-357)gtC>gtA	p.V119V	MRPL3_ENST00000506946.1_5'UTR|MRPL3_ENST00000425847.2_Silent_p.V146V	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	119					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						GAAGTAATGTGACCACATGCT	0.398																																						ENST00000264995.3		NA																	0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						c.(355-357)gtC>gtA		mitochondrial ribosomal protein L3							156.0	121.0	133.0					3																	131219286		2203	4300	6503	SO:0001819	synonymous_variant	11222				translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr3:131219286G>T	X06323	CCDS3071.1	3q21-q23	2012-09-13			ENSG00000114686	ENSG00000114686		"""Mitochondrial ribosomal proteins / large subunits"""	10379	protein-coding gene	gene with protein product		607118		RPML3		2891103	Standard	NM_007208		Approved	MRL3	uc003eoh.3	P09001	OTTHUMG00000159607	ENST00000264995.3:c.357C>A	3.37:g.131219286G>T		False	False		Somatic	0				MRPL3_ENST00000425847.2_Silent_p.V146V|MRPL3_ENST00000506946.1_5'UTR	p.V119V	NM_007208.3	NP_009139.1	WXS	Illumina HiSeq	Phase_I	P09001	RM03_HUMAN			3	504	-			119					Q6IBT2	Silent	SNP	ENST00000264995.3	37	c.357C>A	CCDS3071.1	.	.	.	.	.	.	.	.	.	.	G	3.702	-0.061285	0.07317	.	.	ENSG00000114686	ENST00000511168	.	.	.	5.62	4.73	0.59995	.	.	.	.	.	T	0.71099	0.3300	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70498	-0.4855	4	.	.	.	-2.7541	15.3528	0.74402	0.0:0.1405:0.8595:0.0	.	.	.	.	N	134	.	.	H	-	1	0	MRPL3	132701976	1.000000	0.71417	0.999000	0.59377	0.354000	0.29330	4.626000	0.61269	1.340000	0.45581	0.555000	0.69702	CAC		0.398	MRPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356471.3	0	NM_007208		3:131219286
ZFP91	80829	broad.mit.edu	37	11	58379764	58379764	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr11:58379764C>T	ENST00000316059.6	+	7	1042	c.871C>T	c.(871-873)Cga>Tga	p.R291*	ZFP91-CNTF_ENST00000389919.4_Nonsense_Mutation_p.R291*|AP001350.1_ENST00000601906.1_5'Flank	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	291					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein K63-linked ubiquitination (GO:0070534)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				AGGAAGAAGACGAAAAGATGA	0.418																																						ENST00000316059.6		NA																	0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(871-873)Cga>Tga		ZFP91 zinc finger protein							101.0	92.0	95.0					11																	58379764		2201	4295	6496	SO:0001587	stop_gained	80829				activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:58379764C>T	AB056107	CCDS31553.1	11q12	2012-11-27	2012-11-27		ENSG00000186660	ENSG00000186660		"""Zinc fingers, C2H2-type"""	14983	protein-coding gene	gene with protein product			"""zinc finger protein homologous to Zfp91 in mouse"", ""zinc finger protein 91 homolog (mouse)"""			12738986, 20682767	Standard	NM_053023		Approved	PZF, ZNF757	uc001nmx.4	Q96JP5	OTTHUMG00000137391	ENST00000316059.6:c.871C>T	11.37:g.58379764C>T	ENSP00000339030:p.Arg291*	False	False		Somatic	0				ZFP91-CNTF_ENST00000389919.4_Nonsense_Mutation_p.R291*	p.R291*	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	WXS	Illumina HiSeq	Phase_I	Q96JP5	ZFP91_HUMAN			7	1042	+		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	291					A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Nonsense_Mutation	SNP	ENST00000316059.6	37	c.871C>T	CCDS31553.1	.	.	.	.	.	.	.	.	.	.	C	38	6.963557	0.97967	.	.	ENSG00000186660	ENST00000316059;ENST00000389918	.	.	.	5.69	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	-6.2665	11.456	0.50183	0.3271:0.6729:0.0:0.0	.	.	.	.	X	291	.	ENSP00000374569:R291X	R	+	1	2	ZFP91	58136340	0.985000	0.35326	1.000000	0.80357	0.992000	0.81027	0.526000	0.22971	1.346000	0.45694	0.650000	0.86243	CGA		0.418	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268674.1	0	NM_053023		11:58379764
KRTAP9-9	81870	broad.mit.edu	37	17	39412064	39412064	+	Missense_Mutation	SNP	G	G	A	rs374673591	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:39412064G>A	ENST00000394008.1	+	1	429	c.427G>A	c.(427-429)Gcc>Acc	p.A143T		NM_030975.2	NP_112237.2	Q9BYP9	KRA99_HUMAN	keratin associated protein 9-9	128	14 X 5 AA repeats of C-C-[RQVGE]- [SPSTNQ]-[TASL].					keratin filament (GO:0045095)				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CTGCCGCCCCGCCTGCTGTGA	0.612													.|||	2	0.000399361	0.0008	0.0	5008	,	,		19347	0.0		0.001	False		,,,				2504	0.0					ENST00000394008.1		NA																	0				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6						c.(427-429)Gcc>Acc		keratin associated protein 9-9		G	THR/ALA	0,4406		0,0,2203	153.0	161.0	158.0		427	-2.5	0.0	17		158	1,8599		0,1,4299	no	missense	KRTAP9-9	NM_030975.2	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	143/170	39412064	1,13005	2203	4300	6503	SO:0001583	missense	81870					keratin filament		g.chr17:39412064G>A	AJ406951	CCDS54127.1	17q21.2	2010-06-03			ENSG00000198083	ENSG00000198083		"""Keratin associated proteins"""	16773	protein-coding gene	gene with protein product			"""keratin associated protein 9-5"""	KRTAP9-5		11279113	Standard	NM_030975		Approved	KAP9.9, KAP9.5	uc021txh.1	Q9BYP9	OTTHUMG00000133602	ENST00000394008.1:c.427G>A	17.37:g.39412064G>A	ENSP00000377576:p.Ala143Thr	True	False		Somatic	0					p.A143T	NM_030975.2	NP_112237.2	WXS	Illumina HiSeq	Phase_I	B5MDD6	B5MDD6_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	429	+		Breast(137;0.000496)	143					B5MDD6|Q9BYQ1	Missense_Mutation	SNP	ENST00000394008.1	37	c.427G>A	CCDS54127.1	.	.	.	.	.	.	.	.	.	.	.	14.35	2.507999	0.44558	0.0	1.16E-4	ENSG00000198083	ENST00000431129;ENST00000394008	T	0.01295	5.04	2.85	-2.54	0.06307	.	.	.	.	.	T	0.00524	0.0017	N	0.00879	-1.12	0.09310	N	1	B	0.17268	0.021	B	0.08055	0.003	T	0.44982	-0.9292	9	0.37606	T	0.19	.	3.7095	0.08414	0.5122:0.0:0.3091:0.1786	.	128	Q9BYP9	KRA99_HUMAN	T	149;143	ENSP00000377576:A143T	ENSP00000377576:A143T	A	+	1	0	KRTAP9-9	36665590	0.000000	0.05858	0.000000	0.03702	0.448000	0.32197	-1.026000	0.03596	-0.748000	0.04753	0.205000	0.17691	GCC		0.612	KRTAP9-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257710.1	0	NM_030975		17:39412064
ZNF761	388561	broad.mit.edu	37	19	53958280	53958280	+	RNA	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:53958280G>T	ENST00000454407.1	+	0	972							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ATGCTTCCTTGGTTTCAACAG	0.383																																						ENST00000454407.1		NA																	0				endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30								zinc finger protein 761							97.0	102.0	101.0					19																	53958280		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53958280G>T	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53958280G>T		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I	Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	0	972	+			NA					Q6ZNB9	RNA	SNP	ENST00000454407.1	37																																																																																						0.383	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		0	NM_001008401		19:53958280
SGCG	6445	broad.mit.edu	37	13	23869565	23869565	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr13:23869565G>A	ENST00000218867.3	+	6	641	c.517G>A	c.(517-519)Gct>Act	p.A173T	SGCG_ENST00000537476.1_Missense_Mutation_p.A173T|SGCG_ENST00000545013.1_Missense_Mutation_p.A173T	NM_000231.2	NP_000222	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	173					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		GCCTGAAGGGGCTCTTTTTGA	0.373																																						ENST00000218867.3		NA																	0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(517-519)Gct>Act		sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)							155.0	158.0	157.0					13																	23869565		2203	4300	6503	SO:0001583	missense	6445				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		g.chr13:23869565G>A	U34976	CCDS9299.1	13q12-q13	2014-09-17	2002-08-29		ENSG00000102683	ENSG00000102683			10809	protein-coding gene	gene with protein product	"""Maghrebian myopathy (autosomal recessive)"", ""35kD dystrophin-associated glycoprotein"", ""limb girdle muscular dystrophy 2C (Duchenne-like muscular dystrophy, autosomal recessive)"", ""gamma sarcoglycan"""	608896	"""sarcoglycan, gamma (35kD dystrophin-associated glycoprotein)"""	DMDA1, MAM, LGMD2C		8968757	Standard	NM_000231		Approved	SCARMD2, DAGA4, SCG3, DMDA, TYPE, A4, MGC130048	uc001uom.2	Q13326	OTTHUMG00000016563	ENST00000218867.3:c.517G>A	13.37:g.23869565G>A	ENSP00000218867:p.Ala173Thr	True	False		Somatic	0				SGCG_ENST00000537476.1_Missense_Mutation_p.A173T|SGCG_ENST00000545013.1_Missense_Mutation_p.A173T	p.A173T	NM_000231.2	NP_000222	WXS	Illumina HiSeq	Phase_I	Q13326	SGCG_HUMAN		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)	6	641	+		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)	173					Q32M32|Q5T9J6	Missense_Mutation	SNP	ENST00000218867.3	37	c.517G>A	CCDS9299.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.182474	0.57800	.	.	ENSG00000102683	ENST00000218867;ENST00000537476;ENST00000545013	D;D;D	0.95307	-3.67;-3.67;-3.67	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	D	0.96386	0.8821	M	0.75447	2.3	0.54753	D	0.999985	D	0.89917	1.0	D	0.91635	0.999	D	0.94976	0.8121	10	0.23891	T	0.37	-20.3547	13.2912	0.60272	0.0:0.0:1.0:0.0	.	173	Q13326	SGCG_HUMAN	T	173	ENSP00000218867:A173T;ENSP00000444100:A173T;ENSP00000442232:A173T	ENSP00000218867:A173T	A	+	1	0	SGCG	22767565	1.000000	0.71417	0.998000	0.56505	0.580000	0.36256	4.816000	0.62642	2.264000	0.75181	0.563000	0.77884	GCT		0.373	SGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044151.1	0	NM_000231		13:23869565
ATP7B	540	broad.mit.edu	37	13	52548807	52548807	+	Silent	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr13:52548807G>A	ENST00000242839.4	-	2	705	c.549C>T	c.(547-549)gcC>gcT	p.A183A	ATP7B_ENST00000400370.3_Silent_p.A183A|ATP7B_ENST00000448424.2_Silent_p.A183A|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000344297.5_Silent_p.A183A|ATP7B_ENST00000418097.2_Silent_p.A183A|ATP7B_ENST00000400366.3_Silent_p.A183A|ATP7B_ENST00000542656.1_Silent_p.A151A	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	183	HMA 2. {ECO:0000255|PROSITE- ProRule:PRU00280}.				cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	AAGTGATGACGGCCTCTTGGT	0.512									Wilson disease																													ENST00000242839.4		NA																	0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55						c.(547-549)gcC>gcT		ATPase, Cu++ transporting, beta polypeptide							59.0	62.0	61.0					13																	52548807		2083	4211	6294	SO:0001819	synonymous_variant	540	Wilson disease	Familial Cancer Database		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	g.chr13:52548807G>A	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.549C>T	13.37:g.52548807G>A		False	False		Somatic	0				ATP7B_ENST00000400370.3_Silent_p.A183A|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000542656.1_Silent_p.A151A|ATP7B_ENST00000418097.2_Silent_p.A183A|ATP7B_ENST00000344297.5_Silent_p.A183A|ATP7B_ENST00000448424.2_Silent_p.A183A|ATP7B_ENST00000400366.3_Silent_p.A183A	p.A183A	NM_000053.3	NP_000044.2	WXS	Illumina HiSeq	Phase_I	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	2	705	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	183			HMA 2.		Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Silent	SNP	ENST00000242839.4	37	c.549C>T	CCDS41892.1																																																																																				0.512	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	0	NM_000053		13:52548807
ENPP3	5169	broad.mit.edu	37	6	131979467	131979467	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr6:131979467G>T	ENST00000414305.1	+	7	797	c.469G>T	c.(469-471)Gac>Tac	p.D157Y	ENPP3_ENST00000427148.2_Missense_Mutation_p.D123Y|ENPP3_ENST00000358229.5_Missense_Mutation_p.D157Y|ENPP3_ENST00000470930.1_3'UTR|ENPP3_ENST00000357639.3_Missense_Mutation_p.D157Y|ENPP3_ENST00000543135.1_Missense_Mutation_p.D123Y			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	157	Phosphodiesterase.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		TTTCAGGTTTGACCTGCCACC	0.328																																						ENST00000414305.1		NA																	0				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(469-471)Gac>Tac		ectonucleotide pyrophosphatase/phosphodiesterase 3							137.0	133.0	134.0					6																	131979467		2202	4300	6502	SO:0001583	missense	5169				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	g.chr6:131979467G>T	AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"""CD molecules"""	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.469G>T	6.37:g.131979467G>T	ENSP00000406261:p.Asp157Tyr	True	False		Somatic	0				ENPP3_ENST00000357639.3_Missense_Mutation_p.D157Y|ENPP3_ENST00000543135.1_Missense_Mutation_p.D123Y|ENPP3_ENST00000358229.5_Missense_Mutation_p.D157Y|ENPP3_ENST00000470930.1_3'UTR|ENPP3_ENST00000427148.2_Missense_Mutation_p.D123Y	p.D157Y			WXS	Illumina HiSeq	Phase_I	O14638	ENPP3_HUMAN		GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)	7	797	+	Breast(56;0.0753)		157			Phosphodiesterase.		Q5JTL3	Missense_Mutation	SNP	ENST00000414305.1	37	c.469G>T	CCDS5148.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.432322	0.62844	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000543135;ENST00000427148;ENST00000358229	T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88	5.46	5.46	0.80206	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.726895	0.12959	N	0.425153	T	0.77032	0.4071	M	0.73962	2.25	0.38009	D	0.934463	P	0.47545	0.897	P	0.49561	0.615	T	0.79536	-0.1763	10	0.66056	D	0.02	-12.1846	16.5792	0.84710	0.0:0.0:1.0:0.0	.	157	O14638	ENPP3_HUMAN	Y	157;157;123;123;157	ENSP00000406261:D157Y;ENSP00000350265:D157Y;ENSP00000440810:D123Y;ENSP00000399269:D123Y;ENSP00000350964:D157Y	ENSP00000350265:D157Y	D	+	1	0	ENPP3	132021160	1.000000	0.71417	0.998000	0.56505	0.671000	0.39405	2.644000	0.46613	2.722000	0.93159	0.650000	0.86243	GAC		0.328	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2	0			6:131979467
PRKAA1	5562	broad.mit.edu	37	5	40767579	40767579	+	Silent	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:40767579G>T	ENST00000397128.2	-	6	818	c.810C>A	c.(808-810)atC>atA	p.I270I	PRKAA1_ENST00000354209.3_Silent_p.I285I	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	270	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to glucose starvation (GO:0042149)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|cold acclimation (GO:0009631)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|fatty acid oxidation (GO:0019395)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of glucosylceramide biosynthetic process (GO:0046318)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of gene expression (GO:0010628)|positive regulation of glycolytic process (GO:0045821)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of transcription, DNA-templated (GO:0006355)|regulation of vesicle-mediated transport (GO:0060627)|response to activity (GO:0014823)|response to caffeine (GO:0031000)|response to camptothecin (GO:1901563)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	AMP-activated protein kinase complex (GO:0031588)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|tau-protein kinase activity (GO:0050321)			breast(1)	1					Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	TGATATCTTTGATTGTGGCCC	0.348																																						ENST00000397128.2		NA																	0				breast(1)	1						c.(808-810)atC>atA		protein kinase, AMP-activated, alpha 1 catalytic subunit	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)						79.0	75.0	76.0					5																	40767579		1823	4077	5900	SO:0001819	synonymous_variant	5562				activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding	g.chr5:40767579G>T		CCDS3932.2, CCDS3933.2	5p13.1	2012-10-03			ENSG00000132356	ENSG00000132356			9376	protein-coding gene	gene with protein product	"""AMPK, alpha, 1"""	602739				8557660	Standard	XM_006714481		Approved	AMPKa1	uc003jmb.3	Q13131	OTTHUMG00000162269	ENST00000397128.2:c.810C>A	5.37:g.40767579G>T		True	False		Somatic	0				PRKAA1_ENST00000354209.3_Silent_p.I285I	p.I270I	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	WXS	Illumina HiSeq	Phase_I	Q13131	AAPK1_HUMAN			6	818	-			270			Protein kinase.		A8MTQ6|B2R7E1|O00286|Q5D0E1|Q86VS1|Q9UNQ4	Silent	SNP	ENST00000397128.2	37	c.810C>A	CCDS3932.2																																																																																				0.348	PRKAA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253833.2	0	NM_006251		5:40767579
CD99L2	83692	broad.mit.edu	37	X	149983362	149983362	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chrX:149983362G>T	ENST00000370377.3	-	4	367	c.250C>A	c.(250-252)Cgc>Agc	p.R84S	CD99L2_ENST00000437787.2_Missense_Mutation_p.R84S|CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000346693.4_5'UTR	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	84					cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGTTTCCTGCGGCCATCATCT	0.453																																						ENST00000370377.3		NA																	0				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(250-252)Cgc>Agc		CD99 molecule-like 2							179.0	167.0	171.0					X																	149983362		2203	4300	6503	SO:0001583	missense	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149983362G>T	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"""MIC2 like 1"", ""CD99 antigen-like 2"""	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.250C>A	X.37:g.149983362G>T	ENSP00000359403:p.Arg84Ser	False	False		Somatic	0				CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_Missense_Mutation_p.R84S	p.R84S	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	WXS	Illumina HiSeq	Phase_I	Q8TCZ2	C99L2_HUMAN			4	367	-	Acute lymphoblastic leukemia(192;6.56e-05)		84					A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	Missense_Mutation	SNP	ENST00000370377.3	37	c.250C>A	CCDS35427.1	.	.	.	.	.	.	.	.	.	.	G	2.949	-0.217209	0.06101	.	.	ENSG00000102181	ENST00000370377;ENST00000438086;ENST00000437787;ENST00000418547	T	0.21361	2.01	2.07	1.19	0.21007	.	15.027200	0.00897	U	0.002304	T	0.26011	0.0634	M	0.66939	2.045	0.09310	N	1	B;B	0.25105	0.118;0.058	B;B	0.30179	0.112;0.009	T	0.17806	-1.0357	9	.	.	.	.	4.0882	0.09957	0.2226:0.0:0.7774:0.0	.	84;84	E9PD27;Q8TCZ2	.;C99L2_HUMAN	S	84;88;84;47	ENSP00000394858:R84S	.	R	-	1	0	CD99L2	149734020	0.016000	0.18221	0.003000	0.11579	0.096000	0.18686	1.263000	0.33004	0.324000	0.23333	0.292000	0.19580	CGC		0.453	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	0	NM_031462		X:149983362
HSD17B11	51170	broad.mit.edu	37	4	88258508	88258508	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr4:88258508C>A	ENST00000358290.4	-	7	1138	c.823G>T	c.(823-825)Gag>Tag	p.E275*	RP11-529H2.2_ENST00000508163.1_RNA|HSD17B11_ENST00000507518.1_5'UTR|HSD17B11_ENST00000507286.1_Nonsense_Mutation_p.E231*	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	275					androgen catabolic process (GO:0006710)|steroid biosynthetic process (GO:0006694)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|lipid particle (GO:0005811)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|steroid dehydrogenase activity (GO:0016229)			cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		AGGAAACGCTCAGGAAGGATC	0.294																																						ENST00000358290.4		NA																	0				cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11						c.(823-825)Gag>Tag		hydroxysteroid (17-beta) dehydrogenase 11							86.0	87.0	86.0					4																	88258508		2203	4299	6502	SO:0001587	stop_gained	51170				androgen catabolic process|steroid biosynthetic process	cytoplasm|extracellular region	binding|estradiol 17-beta-dehydrogenase activity	g.chr4:88258508C>A	AF126780	CCDS3619.1	4q22.1	2011-09-20	2006-11-22	2006-11-22	ENSG00000198189	ENSG00000198189	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	22960	protein-coding gene	gene with protein product	"""retinal short-chain dehydrogenase/reductase 2"", ""short chain dehydrogenase/reductase family 16C, member 2"""	612831	"""dehydrogenase/reductase (SDR family) member 8"""	DHRS8		11165019, 12697717, 19027726	Standard	XM_006714232		Approved	RetSDR2, 17-BETA-HSD11, 17-BETA-HSDXI, PAN1B, SDR16C2	uc003hqp.2	Q8NBQ5	OTTHUMG00000130594	ENST00000358290.4:c.823G>T	4.37:g.88258508C>A	ENSP00000351035:p.Glu275*	True	False		Somatic	0				RP11-529H2.2_ENST00000508163.1_RNA|HSD17B11_ENST00000507518.1_5'UTR|HSD17B11_ENST00000507286.1_Nonsense_Mutation_p.E231*	p.E275*	NM_016245.3	NP_057329.2	WXS	Illumina HiSeq	Phase_I	Q8NBQ5	DHB11_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000339)	7	1138	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	275					Q96HF6|Q9UKU4	Nonsense_Mutation	SNP	ENST00000358290.4	37	c.823G>T	CCDS3619.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.214804	0.39102	.	.	ENSG00000198189	ENST00000358290;ENST00000507286	.	.	.	5.49	4.64	0.57946	.	0.079681	0.51477	D	0.000087	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	13.4986	0.61440	0.0:0.8429:0.1571:0.0	.	.	.	.	X	275;231	.	ENSP00000351035:E275X	E	-	1	0	HSD17B11	88477532	1.000000	0.71417	1.000000	0.80357	0.045000	0.14185	3.940000	0.56599	1.307000	0.44944	0.563000	0.77884	GAG		0.294	HSD17B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253041.1	0	NM_016245		4:88258508
RNF32	140545	broad.mit.edu	37	7	156437421	156437421	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr7:156437421C>A	ENST00000405335.1	+	4	653	c.244C>A	c.(244-246)Ctt>Att	p.L82I	RNF32_ENST00000392741.2_Missense_Mutation_p.L82I|RNF32_ENST00000317955.5_Missense_Mutation_p.L82I|RNF32_ENST00000392743.2_Missense_Mutation_p.L82I|RNF32_ENST00000343665.4_Missense_Mutation_p.L82I|RNF32_ENST00000392740.1_Missense_Mutation_p.L82I|RNF32_ENST00000432459.2_Missense_Mutation_p.L82I|RNF32_ENST00000311822.8_Missense_Mutation_p.L82I|RNF32_ENST00000480011.1_3'UTR			Q9H0A6	RNF32_HUMAN	ring finger protein 32	82						aggresome (GO:0016235)|endosome (GO:0005768)	zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AGAATATGTTCTTGATCCCAA	0.353																																						ENST00000392741.2		NA																	0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15						c.(244-246)Ctt>Att		ring finger protein 32							70.0	74.0	72.0					7																	156437421		2203	4300	6503	SO:0001583	missense	140545					aggresome|endosome	protein binding|zinc ion binding	g.chr7:156437421C>A		CCDS5944.1	7q36	2013-08-05			ENSG00000105982	ENSG00000105982		"""RING-type (C3HC4) zinc fingers"""	17118	protein-coding gene	gene with protein product		610241				11890671	Standard	NM_001184996		Approved	FKSG33, HSD15, LMBR2	uc003wmr.3	Q9H0A6	OTTHUMG00000151440	ENST00000405335.1:c.244C>A	7.37:g.156437421C>A	ENSP00000385285:p.Leu82Ile	False	False		Somatic	0				RNF32_ENST00000311822.8_Missense_Mutation_p.L82I|RNF32_ENST00000405335.1_Missense_Mutation_p.L82I|RNF32_ENST00000392740.1_Missense_Mutation_p.L82I|RNF32_ENST00000343665.4_Missense_Mutation_p.L82I|RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000432459.2_Missense_Mutation_p.L82I|RNF32_ENST00000392743.2_Missense_Mutation_p.L82I|RNF32_ENST00000317955.5_Missense_Mutation_p.L82I	p.L82I			WXS	Illumina HiSeq	Phase_I	Q9H0A6	RNF32_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	2	332	+	Ovarian(565;0.218)	all_hematologic(28;0.0592)	82					Q6FIB3|Q6X7T4|Q8N6V8|Q8TDG0|Q96BM5|Q9Y6U1	Missense_Mutation	SNP	ENST00000405335.1	37	c.244C>A	CCDS5944.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.331272	0.81690	.	.	ENSG00000105982	ENST00000404282;ENST00000432459;ENST00000317955;ENST00000405335;ENST00000311822;ENST00000392743;ENST00000392741;ENST00000343665;ENST00000392740	D;D;D;D;D;D;D;T	0.92299	-3.01;-3.01;-3.01;-3.01;-3.01;-3.01;-3.01;1.6	5.17	5.17	0.71159	.	0.059371	0.64402	D	0.000002	D	0.95705	0.8603	M	0.71206	2.165	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.998;1.0;0.993	D;P;D;P	0.87578	0.997;0.895;0.998;0.725	D	0.95321	0.8420	10	0.46703	T	0.11	-17.3747	18.6938	0.91593	0.0:1.0:0.0:0.0	.	82;82;82;82	Q9H0A6-4;G5E940;Q9H0A6-2;Q9H0A6	.;.;.;RNF32_HUMAN	I	82	ENSP00000385815:L82I;ENSP00000405588:L82I;ENSP00000315950:L82I;ENSP00000385285:L82I;ENSP00000308894:L82I;ENSP00000376499:L82I;ENSP00000376497:L82I;ENSP00000341185:L82I	ENSP00000308894:L82I	L	+	1	0	RNF32	156130182	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	5.029000	0.64121	2.403000	0.81681	0.655000	0.94253	CTT		0.353	RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322660.2	0	NM_030936		7:156437421
SPTA1	6708	broad.mit.edu	37	1	158592860	158592860	+	Silent	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:158592860G>T	ENST00000368147.4	-	43	6213	c.6033C>A	c.(6031-6033)gcC>gcA	p.A2011A		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2011					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.A2011A(2)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCAGCAGAGCGGCATAACGCT	0.478																																						ENST00000368147.4		NA																	2	Substitution - coding silent(2)	p.A2011A(2)	prostate(1)|lung(1)	NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(6031-6033)gcC>gcA		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							265.0	265.0	265.0					1																	158592860		1942	4142	6084	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158592860G>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6033C>A	1.37:g.158592860G>T		False	False		Somatic	0					p.A2011A	NM_003126.2	NP_003117.2	WXS	Illumina HiSeq	Phase_I	P02549	SPTA1_HUMAN			43	6213	-	all_hematologic(112;0.0378)		NA					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.6033C>A	CCDS41423.1																																																																																				0.478	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	0	NM_003126		1:158592860
B3GNT2	10678	broad.mit.edu	37	2	62449693	62449693	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:62449693C>A	ENST00000301998.4	+	2	590	c.338C>A	c.(337-339)cCg>cAg	p.P113Q	B3GNT2_ENST00000405767.1_Missense_Mutation_p.P113Q	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	113					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			AACAACTTGCCGGACAGATTT	0.483																																						ENST00000301998.4		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18						c.(337-339)cCg>cAg		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2							171.0	193.0	185.0					2																	62449693		2203	4300	6503	SO:0001583	missense	10678					Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr2:62449693C>A	AB049584	CCDS1870.1	2p15	2013-02-19	2006-04-12	2006-04-12	ENSG00000170340	ENSG00000170340		"""Beta 3-glycosyltransferases"""	15629	protein-coding gene	gene with protein product		605581	"""UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1"""	B3GNT1		9892646, 11042166	Standard	NM_006577		Approved	B3GNT-2, BETA3GNT, B3GN-T2, B3GN-T1	uc002sbs.3	Q9NY97	OTTHUMG00000129444	ENST00000301998.4:c.338C>A	2.37:g.62449693C>A	ENSP00000305595:p.Pro113Gln	False	False		Somatic	0				B3GNT2_ENST00000405767.1_Missense_Mutation_p.P113Q	p.P113Q	NM_006577.5	NP_006568.2	WXS	Illumina HiSeq	Phase_I	Q9NY97	B3GN2_HUMAN	LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)		2	590	+	Lung NSC(7;0.031)|all_lung(7;0.0634)		113					Q54AC1|Q9NQQ9|Q9NQR0|Q9NUT9	Missense_Mutation	SNP	ENST00000301998.4	37	c.338C>A	CCDS1870.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.099982	0.76983	.	.	ENSG00000170340	ENST00000301998;ENST00000405767	T;T	0.32753	1.44;1.44	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.61362	0.2341	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.63594	-0.6602	10	0.66056	D	0.02	.	19.9598	0.97242	0.0:1.0:0.0:0.0	.	113	Q9NY97	B3GN2_HUMAN	Q	113	ENSP00000305595:P113Q;ENSP00000384692:P113Q	ENSP00000305595:P113Q	P	+	2	0	B3GNT2	62303197	1.000000	0.71417	0.991000	0.47740	0.717000	0.41224	6.071000	0.71229	2.716000	0.92895	0.655000	0.94253	CCG		0.483	B3GNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251606.2	0	NM_006577		2:62449693
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	False	False	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic	0				KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	WXS	Illumina HiSeq	Phase_I	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0	NM_033360		12:25398284
SPOPL	339745	broad.mit.edu	37	2	139326586	139326586	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:139326586G>T	ENST00000280098.4	+	11	1494	c.1115G>T	c.(1114-1116)cGa>cTa	p.R372L	AC092620.2_ENST00000458007.2_RNA	NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	372					negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		GAAGCCTTTCGAGCACTAGCA	0.423																																						ENST00000280098.4		NA																	0				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21						c.(1114-1116)cGa>cTa		speckle-type POZ protein-like							260.0	260.0	260.0					2																	139326586		2203	4300	6503	SO:0001583	missense	339745					nucleus		g.chr2:139326586G>T		CCDS33298.1	2q22.1	2013-01-09			ENSG00000144228	ENSG00000144228		"""BTB/POZ domain containing"""	27934	protein-coding gene	gene with protein product	"""HIB homolog 2"", ""roadkill homolog 2"""						Standard	NM_001001664		Approved	BTBD33	uc002tvh.3	Q6IQ16	OTTHUMG00000153635	ENST00000280098.4:c.1115G>T	2.37:g.139326586G>T	ENSP00000280098:p.Arg372Leu	False	False		Somatic	0					p.R372L	NM_001001664.2	NP_001001664.1	WXS	Illumina HiSeq	Phase_I	Q6IQ16	SPOPL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0296)	11	1494	+			372						Missense_Mutation	SNP	ENST00000280098.4	37	c.1115G>T	CCDS33298.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.933375	0.92458	.	.	ENSG00000144228	ENST00000280098	T	0.71461	-0.57	5.97	5.97	0.96955	.	0.058159	0.64402	D	0.000001	T	0.79953	0.4535	L	0.58810	1.83	0.80722	D	1	D	0.58268	0.982	P	0.57057	0.812	T	0.76812	-0.2821	9	.	.	.	-11.9914	20.428	0.99075	0.0:0.0:1.0:0.0	.	372	Q6IQ16	SPOPL_HUMAN	L	372	ENSP00000280098:R372L	.	R	+	2	0	SPOPL	139043056	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.837000	0.97791	0.655000	0.94253	CGA		0.423	SPOPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331897.1	0			2:139326586
TTN	7273	broad.mit.edu	37	2	179598474	179598474	+	Silent	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:179598474G>T	ENST00000591111.1	-	51	14915	c.14691C>A	c.(14689-14691)atC>atA	p.I4897I	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.I5214I|TTN_ENST00000342992.6_Silent_p.I3970I|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12289	Ig-like 29.				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)			AGCTCATTTTGATTTTTCCGT	0.453																																						ENST00000589042.1		NA																	0				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						c.(15640-15642)atC>atA		titin							202.0	191.0	195.0					2																	179598474		1904	4138	6042	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179598474G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.14691C>A	2.37:g.179598474G>T		True	False		Somatic	0				TTN_ENST00000591111.1_Silent_p.I4897I|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.I3970I|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron	p.I5214I	NM_001267550.1	NP_001254479.1	WXS	Illumina HiSeq	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		53	15866	-			4897			Ig-like 32.		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.15642C>A																																																																																					0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	NM_133378		2:179598474
ZNF461	92283	broad.mit.edu	37	19	37130742	37130742	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:37130742G>T	ENST00000588268.1	-	6	732	c.505C>A	c.(505-507)Cat>Aat	p.H169N	ZNF461_ENST00000360357.4_Missense_Mutation_p.H146N|ZNF461_ENST00000540605.2_5'UTR	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	169					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ATGTTTTCATGGTTAATCATA	0.358																																						ENST00000588268.1		NA																	0				endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29						c.(505-507)Cat>Aat		zinc finger protein 461							238.0	228.0	231.0					19																	37130742		1842	4102	5944	SO:0001583	missense	92283				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37130742G>T	BX649031	CCDS54257.1, CCDS74348.1	19q13.13	2013-01-08				ENSG00000197808		"""Zinc fingers, C2H2-type"", ""-"""	21629	protein-coding gene	gene with protein product		608640				11579202, 15004467	Standard	XM_005259402		Approved	GIOT-1, MGC33911	uc002oem.3	Q8TAF7		ENST00000588268.1:c.505C>A	19.37:g.37130742G>T	ENSP00000467931:p.His169Asn	False	False		Somatic	0				ZNF461_ENST00000360357.4_Missense_Mutation_p.H146N|ZNF461_ENST00000540605.2_5'UTR	p.H169N	NM_153257.2	NP_694989.2	WXS	Illumina HiSeq	Phase_I	Q8TAF7	ZN461_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		6	732	-	Esophageal squamous(110;0.198)		169					A8K9W9|Q6VSF7|Q9ULZ8	Missense_Mutation	SNP	ENST00000588268.1	37	c.505C>A	CCDS54257.1	.	.	.	.	.	.	.	.	.	.	G	0.120	-1.127098	0.01770	.	.	ENSG00000197808	ENST00000396893;ENST00000360357;ENST00000540605;ENST00000396892	T	0.05855	3.38	3.87	0.209	0.15226	.	.	.	.	.	T	0.04679	0.0127	L	0.39898	1.24	0.09310	N	1	B;B;B	0.13145	0.004;0.007;0.007	B;B;B	0.08055	0.002;0.003;0.003	T	0.45056	-0.9287	9	0.19590	T	0.45	.	3.5785	0.07943	0.2434:0.2122:0.5444:0.0	.	146;91;169	B4DRP8;Q59G30;Q8TAF7	.;.;ZN461_HUMAN	N	169;146;42;104	ENSP00000353515:H146N	ENSP00000353515:H146N	H	-	1	0	ZNF461	41822582	0.004000	0.15560	0.001000	0.08648	0.041000	0.13682	0.721000	0.25911	0.399000	0.25367	-0.150000	0.13652	CAT		0.358	ZNF461-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453202.1	0	NM_153257		19:37130742
SSH1	54434	broad.mit.edu	37	12	109212031	109212031	+	Silent	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:109212031G>T	ENST00000326495.5	-	4	366	c.273C>A	c.(271-273)atC>atA	p.I91I	SSH1_ENST00000360239.3_5'UTR|SSH1_ENST00000326470.5_Silent_p.I102I|SSH1_ENST00000551165.1_Silent_p.I91I|SSH1_ENST00000546812.1_Intron	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	91					actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTACCAGCTTGATTCTGTCTT	0.418																																						ENST00000326495.5		NA																	0				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(271-273)atC>atA		slingshot protein phosphatase 1							100.0	99.0	99.0					12																	109212031		2203	4300	6503	SO:0001819	synonymous_variant	54434				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr12:109212031G>T	BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30579	protein-coding gene	gene with protein product		606778	"""slingshot homolog 1 (Drosophila)"""			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.273C>A	12.37:g.109212031G>T		False	False		Somatic	0				SSH1_ENST00000551165.1_Silent_p.I91I|SSH1_ENST00000546812.1_Intron|SSH1_ENST00000326470.5_Silent_p.I102I|SSH1_ENST00000360239.3_5'UTR	p.I91I	NM_018984.3	NP_061857.3	WXS	Illumina HiSeq	Phase_I	Q8WYL5	SSH1_HUMAN			4	366	-			91					Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Silent	SNP	ENST00000326495.5	37	c.273C>A	CCDS9121.1																																																																																				0.418	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	0	NM_018984		12:109212031
ABCA4	24	broad.mit.edu	37	1	94466426	94466426	+	Nonsense_Mutation	SNP	G	G	A	rs61750654		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:94466426G>A	ENST00000370225.3	-	47	6531	c.6445C>T	c.(6445-6447)Cga>Tga	p.R2149*	ABCA4_ENST00000536513.1_Nonsense_Mutation_p.R419*|ABCA4_ENST00000535881.1_Nonsense_Mutation_p.R268*|ABCA4_ENST00000465352.1_5'Flank	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2149	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.		R -> L (in STGD1).		phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CCCATACATCGAAAGGCGCCC	0.562																																						ENST00000370225.3		NA																	0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147	GRCh37	CM990078	ABCA4	M	rs140142529	c.(6445-6447)Cga>Tga		ATP-binding cassette, sub-family A (ABC1), member 4		G	stop/ARG	0,4406		0,0,2203	159.0	124.0	136.0		6445	5.8	1.0	1	dbSNP_134	136	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	ABCA4	NM_000350.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		2149/2274	94466426	1,13005	2203	4300	6503	SO:0001587	stop_gained	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94466426G>A	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.6445C>T	1.37:g.94466426G>A	ENSP00000359245:p.Arg2149*	True	False		Somatic	0				ABCA4_ENST00000535881.1_Nonsense_Mutation_p.R268*|ABCA4_ENST00000536513.1_Nonsense_Mutation_p.R419*	p.R2149*	NM_000350.2	NP_000341.2	WXS	Illumina HiSeq	Phase_I	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	47	6531	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	2149		R -> L (in STGD1).	ABC transporter 2.		O15112|O60438|O60915|Q0QD48|Q4LE31	Nonsense_Mutation	SNP	ENST00000370225.3	37	c.6445C>T	CCDS747.1	.	.	.	.	.	.	.	.	.	.	G	38	6.739809	0.97801	0.0	1.16E-4	ENSG00000198691	ENST00000546054;ENST00000370225;ENST00000536513;ENST00000535881	.	.	.	5.84	5.84	0.93424	.	0.166997	0.50627	D	0.000112	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0922	0.59172	0.0:0.0:0.7351:0.2649	rs61750654	.	.	.	X	941;2149;419;268	.	ENSP00000359245:R2149X	R	-	1	2	ABCA4	94239014	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.696000	0.68287	2.779000	0.95612	0.655000	0.94253	CGA		0.562	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	0	NM_000350		1:94466426
KMO	8564	broad.mit.edu	37	1	241714324	241714324	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:241714324C>A	ENST00000366559.4	+	4	603	c.292C>A	c.(292-294)Ccc>Acc	p.P98T	KMO_ENST00000366558.3_Missense_Mutation_p.P98T|KMO_ENST00000366557.4_Missense_Mutation_p.P98T|KMO_ENST00000484628.1_3'UTR	NM_003679.4	NP_003670.2			kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)											NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			GTCTGCAATTCCCTATGGGAC	0.413																																						ENST00000366559.4		NA																	0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33						c.(292-294)Ccc>Acc		kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)							162.0	158.0	159.0					1																	241714324		2203	4300	6503	SO:0001583	missense	8564				pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity	g.chr1:241714324C>A	AF056032	CCDS1618.1	1q42-q44	2010-11-23			ENSG00000117009	ENSG00000117009	1.14.13.9		6381	protein-coding gene	gene with protein product		603538				9237672	Standard	NM_003679		Approved		uc009xgp.3	O15229	OTTHUMG00000039635	ENST00000366559.4:c.292C>A	1.37:g.241714324C>A	ENSP00000355517:p.Pro98Thr	True	False		Somatic	0				KMO_ENST00000366558.3_Missense_Mutation_p.P98T|KMO_ENST00000484628.1_3'UTR|KMO_ENST00000366557.4_Missense_Mutation_p.P98T	p.P98T	NM_003679.4	NP_003670.2	WXS	Illumina HiSeq	Phase_I	O15229	KMO_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0176)		4	603	+	Ovarian(103;0.103)|all_lung(81;0.23)		98						Missense_Mutation	SNP	ENST00000366559.4	37	c.292C>A	CCDS1618.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.580937	0.65992	.	.	ENSG00000117009	ENST00000366559;ENST00000366558;ENST00000366557	T;T;T	0.49432	0.78;0.78;0.78	6.17	6.17	0.99709	Monooxygenase, FAD-binding (1);	0.000000	0.85682	D	0.000000	T	0.72391	0.3454	M	0.87456	2.885	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.73708	0.981;0.981;0.977	T	0.72312	-0.4331	10	0.40728	T	0.16	.	16.3795	0.83443	0.0:1.0:0.0:0.0	.	98;98;98	O15229;A8K693;O15229-2	KMO_HUMAN;.;.	T	98	ENSP00000355517:P98T;ENSP00000355516:P98T;ENSP00000355515:P98T	ENSP00000355515:P98T	P	+	1	0	KMO	239780947	1.000000	0.71417	1.000000	0.80357	0.447000	0.32167	2.444000	0.44890	2.941000	0.99782	0.655000	0.94253	CCC		0.413	KMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095612.1	0	NM_003679		1:241714324
TTN	7273	broad.mit.edu	37	2	179583118	179583118	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:179583118C>T	ENST00000591111.1	-	83	23988	c.23764G>A	c.(23764-23766)Gca>Aca	p.A7922T	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A8239T|TTN_ENST00000342992.6_Missense_Mutation_p.A6995T|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12113	Ig-like 61.				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)			CTGTACTGTGCATAATCCTCT	0.398																																						ENST00000589042.1		NA																	0				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						c.(24715-24717)Gca>Aca		titin							138.0	132.0	134.0					2																	179583118		1887	4115	6002	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179583118C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.23764G>A	2.37:g.179583118C>T	ENSP00000465570:p.Ala7922Thr	False	False		Somatic	0				TTN_ENST00000591111.1_Missense_Mutation_p.A7922T|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A6995T|TTN_ENST00000342175.6_Intron	p.A8239T	NM_001267550.1	NP_001254479.1	WXS	Illumina HiSeq	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		85	24939	-			7922			Ig-like 65.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.24715G>A		.	.	.	.	.	.	.	.	.	.	C	14.74	2.626923	0.46840	.	.	ENSG00000155657	ENST00000342992	T	0.45276	0.9	6.16	6.16	0.99307	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.55433	0.1920	M	0.79926	2.475	0.80722	D	1	B	0.31459	0.324	B	0.36418	0.224	T	0.56823	-0.7915	9	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	7922	Q8WZ42	TITIN_HUMAN	T	6995	ENSP00000343764:A6995T	ENSP00000343764:A6995T	A	-	1	0	TTN	179291363	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.607000	0.61133	2.937000	0.99478	0.650000	0.86243	GCA		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	NM_133378		2:179583118
PUS1	80324	broad.mit.edu	37	12	132426520	132426520	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:132426520G>A	ENST00000376649.3	+	5	1728	c.1228G>A	c.(1228-1230)Ggc>Agc	p.G410S	PUS1_ENST00000535067.1_Intron|PUS1_ENST00000542167.2_Missense_Mutation_p.G357S|PUS1_ENST00000440818.2_Missense_Mutation_p.G382S|PUS1_ENST00000443358.2_Missense_Mutation_p.G382S	NM_025215.5	NP_079491.2	Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1	410					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|tRNA pseudouridine synthesis (GO:0031119)	mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|pseudouridylate synthase activity (GO:0004730)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		AGGTGGCACGGGCGCCAAGGT	0.612																																					Esophageal Squamous(102;671 2009 17384 45666)	ENST00000542167.2		NA																	0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11						c.(1069-1071)Ggc>Agc		pseudouridylate synthase 1							21.0	16.0	18.0					12																	132426520		2196	4280	6476	SO:0001583	missense	80324					mitochondrion	pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding	g.chr12:132426520G>A	AF116238	CCDS9275.2, CCDS31928.1	12q24	2004-05-17			ENSG00000177192	ENSG00000177192			15508	protein-coding gene	gene with protein product		608109				10094309	Standard	NM_001002019		Approved		uc001ujf.3	Q9Y606	OTTHUMG00000128507	ENST00000376649.3:c.1228G>A	12.37:g.132426520G>A	ENSP00000365837:p.Gly410Ser	True	False		Somatic	0				PUS1_ENST00000440818.2_Missense_Mutation_p.G382S|PUS1_ENST00000376649.3_Missense_Mutation_p.G410S|PUS1_ENST00000535067.1_Intron|PUS1_ENST00000443358.2_Missense_Mutation_p.G382S	p.G357S			WXS	Illumina HiSeq	Phase_I	Q9Y606	TRUA_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)	4	1822	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		410					A8K877|B3KQC1|Q8WYT2|Q9BU44	Missense_Mutation	SNP	ENST00000376649.3	37	c.1069G>A	CCDS9275.2	.	.	.	.	.	.	.	.	.	.	G	13.91	2.378889	0.42207	.	.	ENSG00000177192	ENST00000443358;ENST00000376649;ENST00000322060;ENST00000440818;ENST00000542167	T;T;T;T;T	0.54279	0.62;0.6;0.58;0.62;0.62	4.58	3.69	0.42338	.	0.639198	0.14819	N	0.296581	T	0.44265	0.1285	L	0.44542	1.39	0.09310	N	1	P;B	0.38078	0.617;0.005	B;B	0.37144	0.242;0.002	T	0.30416	-0.9979	10	0.49607	T	0.09	-10.2033	10.0242	0.42061	0.0981:0.0:0.9019:0.0	.	357;410	F5H1S9;Q9Y606	.;TRUA_HUMAN	S	382;410;382;382;357	ENSP00000392451:G382S;ENSP00000365837:G410S;ENSP00000324726:G382S;ENSP00000400032:G382S;ENSP00000438948:G357S	ENSP00000324726:G382S	G	+	1	0	PUS1	130992473	0.017000	0.18338	0.001000	0.08648	0.009000	0.06853	1.937000	0.40193	1.034000	0.39945	0.491000	0.48974	GGC		0.612	PUS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250313.2	0	NM_025215		12:132426520
C20orf24	55969	broad.mit.edu	37	20	35236149	35236149	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr20:35236149G>T	ENST00000373852.5	+	2	281	c.146G>T	c.(145-147)cGa>cTa	p.R49L	C20orf24_ENST00000344795.3_Missense_Mutation_p.R49L|TGIF2-C20orf24_ENST00000558530.1_Missense_Mutation_p.R75L|C20orf24_ENST00000342422.3_Missense_Mutation_p.R49L			Q9BUV8	CT024_HUMAN	chromosome 20 open reading frame 24	49								p.R49L(2)		breast(1)|kidney(1)|lung(2)	4	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				TACTGGTTCCGACAGATCATT	0.423																																						ENST00000344795.3		NA																	2	Substitution - Missense(2)	p.R49L(2)	lung(2)	breast(1)|kidney(1)|lung(2)	4						c.(145-147)cGa>cTa		chromosome 20 open reading frame 24							176.0	162.0	167.0					20																	35236149		2203	4300	6503	SO:0001583	missense	55969							g.chr20:35236149G>T	AF112213	CCDS13279.1, CCDS13280.1, CCDS56190.1	20q11.23	2011-01-25			ENSG00000101084	ENSG00000101084			15870	protein-coding gene	gene with protein product						15178406	Standard	NM_018840		Approved	PNAS-11, RIP5		Q9BUV8	OTTHUMG00000032384	ENST00000373852.5:c.146G>T	20.37:g.35236149G>T	ENSP00000362958:p.Arg49Leu	False	False		Somatic	0				TGIF2-C20orf24_ENST00000558530.1_Missense_Mutation_p.R75L|C20orf24_ENST00000342422.3_Missense_Mutation_p.R49L|C20orf24_ENST00000373852.5_Missense_Mutation_p.R49L	p.R49L	NM_001199534.1|NM_018840.4	NP_001186463.1|NP_061328.1	WXS	Illumina HiSeq	Phase_I					2	364	+	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)	NA					E1P5U0|O00605|Q5QPG6|Q5QPG7|Q9BT03|Q9BZU7|Q9UI05	Missense_Mutation	SNP	ENST00000373852.5	37	c.146G>T	CCDS56190.1	.	.	.	.	.	.	.	.	.	.	G	35	5.526283	0.96431	.	.	ENSG00000101084	ENST00000344795;ENST00000373852;ENST00000342422	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.85039	0.5606	M	0.89287	3.02	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.996;0.999;0.998;0.991;0.995	D	0.87290	0.2298	9	0.87932	D	0	-22.6447	17.5412	0.87848	0.0:0.0:1.0:0.0	.	49;49;49;49;49	Q9BUV8;Q5QPG6;Q9BUV8-2;Q9BUV8-3;Q9BUV8-4	CT024_HUMAN;.;.;.;.	L	49	.	ENSP00000341213:R49L	R	+	2	0	C20orf24	34669563	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.225000	0.95219	2.722000	0.93159	0.655000	0.94253	CGA		0.423	C20orf24-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079006.1	0	NM_018840		20:35236149
ZMYM4	9202	broad.mit.edu	37	1	35859318	35859318	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:35859318C>A	ENST00000314607.6	+	18	2969	c.2889C>A	c.(2887-2889)acC>acA	p.T963T	ZMYM4_ENST00000373297.2_Silent_p.T874T	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	963					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AACCACATACCCAAAACAAAG	0.393																																						ENST00000314607.6		NA																	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54						c.(2887-2889)acC>acA		zinc finger, MYM-type 4							118.0	106.0	110.0					1																	35859318		2203	4300	6503	SO:0001819	synonymous_variant	9202				multicellular organismal development		DNA binding|zinc ion binding	g.chr1:35859318C>A	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.2889C>A	1.37:g.35859318C>A		True	False		Somatic	0				ZMYM4_ENST00000373297.2_Silent_p.T874T	p.T963T	NM_005095.2	NP_005086.2	WXS	Illumina HiSeq	Phase_I	Q5VZL5	ZMYM4_HUMAN			18	2969	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	963					A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Silent	SNP	ENST00000314607.6	37	c.2889C>A	CCDS389.1	.	.	.	.	.	.	.	.	.	.	C	9.029	0.986755	0.18889	.	.	ENSG00000146463	ENST00000457946	.	.	.	5.18	-1.85	0.07784	.	.	.	.	.	T	0.39989	0.1099	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32134	-0.9918	4	.	.	.	-0.0487	1.9559	0.03376	0.4888:0.1835:0.1729:0.1547	.	.	.	.	T	623	.	.	P	+	1	0	ZMYM4	35631905	0.666000	0.27475	0.994000	0.49952	0.990000	0.78478	-0.302000	0.08221	0.016000	0.14998	0.585000	0.79938	CCA		0.393	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	0	NM_005095		1:35859318
SLITRK4	139065	broad.mit.edu	37	X	142716900	142716900	+	Silent	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chrX:142716900G>T	ENST00000381779.4	-	2	2250	c.2025C>A	c.(2023-2025)acC>acA	p.T675T	SLITRK4_ENST00000356928.1_Silent_p.T675T|SLITRK4_ENST00000338017.4_Silent_p.T675T	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	675						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CTTTTTTATTGGTTTTGTGGT	0.483																																						ENST00000381779.4		NA																	0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60						c.(2023-2025)acC>acA		SLIT and NTRK-like family, member 4							123.0	125.0	124.0					X																	142716900		2203	4300	6503	SO:0001819	synonymous_variant	139065					integral to membrane		g.chrX:142716900G>T	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.2025C>A	X.37:g.142716900G>T		False	False		Somatic	0				SLITRK4_ENST00000356928.1_Silent_p.T675T|SLITRK4_ENST00000338017.4_Silent_p.T675T	p.T675T	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	WXS	Illumina HiSeq	Phase_I	Q8IW52	SLIK4_HUMAN			2	2250	-	Acute lymphoblastic leukemia(192;6.56e-05)		675					Q5JXG3|Q8TCM8|Q96DL3	Silent	SNP	ENST00000381779.4	37	c.2025C>A	CCDS14679.1																																																																																				0.483	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	0	NM_173078		X:142716900
C9orf135	138255	broad.mit.edu	37	9	72471475	72471475	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr9:72471475G>T	ENST00000377197.3	+	3	353	c.266G>T	c.(265-267)tGg>tTg	p.W89L	C9orf135_ENST00000466872.2_3'UTR|C9orf135_ENST00000527647.1_Missense_Mutation_p.W89L	NM_001010940.1	NP_001010940.1	Q5VTT2	CI135_HUMAN	chromosome 9 open reading frame 135	89						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						TTCCAGATTTGGACATCAGAA	0.323																																						ENST00000377197.3		NA																	0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						c.(265-267)tGg>tTg		chromosome 9 open reading frame 135							61.0	61.0	61.0					9																	72471475		2203	4300	6503	SO:0001583	missense	138255					integral to membrane		g.chr9:72471475G>T		CCDS35041.1	9q21.11	2013-06-07	2013-06-07	2013-06-07	ENSG00000204711	ENSG00000204711			31422	protein-coding gene	gene with protein product							Standard	XM_005251705		Approved		uc004ahl.3	Q5VTT2	OTTHUMG00000019985	ENST00000377197.3:c.266G>T	9.37:g.72471475G>T	ENSP00000366402:p.Trp89Leu	True	False		Somatic	0				C9orf135_ENST00000527647.1_Missense_Mutation_p.W89L|C9orf135_ENST00000466872.2_3'UTR	p.W89L	NM_001010940.1	NP_001010940.1	WXS	Illumina HiSeq	Phase_I	Q5VTT2	CI135_HUMAN			3	353	+			89					A7E2U4|B2RN61	Missense_Mutation	SNP	ENST00000377197.3	37	c.266G>T	CCDS35041.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.82|11.82	1.752791|1.752791	0.31046|0.31046	.|.	.|.	ENSG00000204711|ENSG00000204711	ENST00000480564|ENST00000377197;ENST00000527647	.|.	.|.	.|.	5.08|5.08	4.14|4.14	0.48551|0.48551	.|.	.|0.000000	.|0.49916	.|D	.|0.000133	T|T	0.66616|0.66616	0.2807|0.2807	L|L	0.59436|0.59436	1.845|1.845	0.36898|0.36898	D|D	0.890251|0.890251	.|D;D	.|0.71674	.|0.998;0.998	.|D;D	.|0.68943	.|0.961;0.948	T|T	0.65487|0.65487	-0.6156|-0.6156	5|9	.|0.16420	.|T	.|0.52	-6.8158|-6.8158	11.6367|11.6367	0.51209|0.51209	0.0:0.178:0.822:0.0|0.0:0.178:0.822:0.0	.|.	.|89;89	.|A7E2U4;Q5VTT2	.|.;CI135_HUMAN	F|L	62|89	.|.	.|ENSP00000366402:W89L	L|W	+|+	3|2	2|0	C9orf135|C9orf135	71661295|71661295	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.031000|0.031000	0.12232|0.12232	3.187000|3.187000	0.50950|0.50950	2.374000|2.374000	0.81015|0.81015	0.585000|0.585000	0.79938|0.79938	TTG|TGG		0.323	C9orf135-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052591.1	0	NM_001010940		9:72471475
CNBD2	140894	broad.mit.edu	37	20	34596256	34596256	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr20:34596256C>A	ENST00000373973.3	+	9	1181	c.1008C>A	c.(1006-1008)atC>atA	p.I336I	CNBD2_ENST00000538900.1_Silent_p.I336I|CNBD2_ENST00000349339.1_Silent_p.I336I			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	336								p.I336I(1)									AATTCCAGATCAAATCATATC	0.408																																						ENST00000373973.3		NA																	1	Substitution - coding silent(1)	p.I336I(1)	lung(1)		NA						c.(1006-1008)atC>atA		cyclic nucleotide binding domain containing 2							101.0	113.0	109.0					20																	34596256		2203	4300	6503	SO:0001819	synonymous_variant	140894							g.chr20:34596256C>A	AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 152"", ""cyclic nucleotide (cNMP) binding domain containing 1"""	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.1008C>A	20.37:g.34596256C>A		True	False		Somatic	0				CNBD2_ENST00000538900.1_Silent_p.I336I|CNBD2_ENST00000349339.1_Silent_p.I336I	p.I336I			WXS	Illumina HiSeq	Phase_I					9	1181	+			NA					Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Silent	SNP	ENST00000373973.3	37	c.1008C>A																																																																																					0.408	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000078960.2	0	NM_080834		20:34596256
ITGB6	3694	broad.mit.edu	37	2	160964209	160964209	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:160964209G>T	ENST00000283249.2	-	14	2486	c.2249C>A	c.(2248-2250)tCa>tAa	p.S750*	ITGB6_ENST00000409967.2_Nonsense_Mutation_p.S643*|ITGB6_ENST00000428609.2_Nonsense_Mutation_p.S708*|ITGB6_ENST00000409872.1_Nonsense_Mutation_p.S750*	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	750	Interaction with HAX1.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						CTTGGCTTTTGATCGTTCTGC	0.473																																						ENST00000283249.2		NA																	0				breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(2248-2250)tCa>tAa		integrin, beta 6							165.0	157.0	160.0					2																	160964209		2203	4300	6503	SO:0001587	stop_gained	3694				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	g.chr2:160964209G>T		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.2249C>A	2.37:g.160964209G>T	ENSP00000283249:p.Ser750*	True	False		Somatic	0				ITGB6_ENST00000409967.2_Nonsense_Mutation_p.S643*|ITGB6_ENST00000409872.1_Nonsense_Mutation_p.S750*|ITGB6_ENST00000428609.2_Nonsense_Mutation_p.S708*	p.S750*	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	WXS	Illumina HiSeq	Phase_I	P18564	ITB6_HUMAN			14	2486	-			750			Interaction with HAX1.		B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Nonsense_Mutation	SNP	ENST00000283249.2	37	c.2249C>A	CCDS2212.1	.	.	.	.	.	.	.	.	.	.	G	41	8.884371	0.98990	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	.	.	.	5.79	5.79	0.91817	.	0.143292	0.49305	D	0.000152	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.4254	0.44375	0.1438:0.0:0.8562:0.0	.	.	.	.	X	750;708;643;750	.	ENSP00000283249:S750X	S	-	2	0	ITGB6	160672455	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.488000	0.73637	2.739000	0.93911	0.655000	0.94253	TCA		0.473	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	0	NM_000888		2:160964209
ZCCHC11	23318	broad.mit.edu	37	1	52911509	52911509	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:52911509C>A	ENST00000371544.3	-	24	4034	c.3772G>T	c.(3772-3774)Gga>Tga	p.G1258*	ZCCHC11_ENST00000257177.4_Nonsense_Mutation_p.G1258*	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1258					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						AGTTTCCTTCCATTGATAAAT	0.294																																						ENST00000371544.3		NA																	0				NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(3772-3774)Gga>Tga		zinc finger, CCHC domain containing 11							86.0	98.0	94.0					1																	52911509		2201	4295	6496	SO:0001587	stop_gained	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52911509C>A	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.3772G>T	1.37:g.52911509C>A	ENSP00000360599:p.Gly1258*	True	False		Somatic	0				ZCCHC11_ENST00000257177.4_Nonsense_Mutation_p.G1258*	p.G1258*	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	WXS	Illumina HiSeq	Phase_I	Q5TAX3	TUT4_HUMAN			24	4034	-			1258					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Nonsense_Mutation	SNP	ENST00000371544.3	37	c.3772G>T	CCDS30716.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.6|21.6	4.174853|4.174853	0.78564|0.78564	.|.	.|.	ENSG00000134744|ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000531722;ENST00000528642|ENST00000474453	.|.	.|.	.|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.052143|.	0.85682|.	D|.	0.000000|.	.|T	.|0.76948	.|0.4059	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74253	.|-0.3725	.|4	0.87932|.	D|.	0|.	.|.	20.1665|20.1665	0.98152|0.98152	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	1258;1258;100;1187|107	.|.	ENSP00000257177:G1258X|.	G|W	-|-	1|2	0|0	ZCCHC11|ZCCHC11	52684097|52684097	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.466000|7.466000	0.80914|0.80914	2.770000|2.770000	0.95276|0.95276	0.650000|0.650000	0.86243|0.86243	GGA|TGG		0.294	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	0	XM_038288		1:52911509
NCOR1	9611	broad.mit.edu	37	17	15978856	15978856	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:15978856G>T	ENST00000268712.3	-	27	3919	c.3662C>A	c.(3661-3663)tCa>tAa	p.S1221*	NCOR1_ENST00000395857.3_Intron|NCOR1_ENST00000395851.1_Nonsense_Mutation_p.S1237*	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1221	Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|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)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ACTATCATATGACAAGATATG	0.423																																						ENST00000268712.3		NA																	0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(3661-3663)tCa>tAa		nuclear receptor corepressor 1							236.0	214.0	221.0					17																	15978856		2203	4300	6503	SO:0001587	stop_gained	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15978856G>T	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.3662C>A	17.37:g.15978856G>T	ENSP00000268712:p.Ser1221*	False	False		Somatic	0				NCOR1_ENST00000395857.3_Intron|NCOR1_ENST00000395851.1_Nonsense_Mutation_p.S1237*	p.S1221*	NM_006311.3	NP_006302.2	WXS	Illumina HiSeq	Phase_I	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	27	3919	-			1221			Interaction with ETO.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Nonsense_Mutation	SNP	ENST00000268712.3	37	c.3662C>A	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	39	7.794547	0.98492	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.0796	19.3193	0.94231	0.0:0.0:1.0:0.0	.	.	.	.	X	1221;1237;1128	.	ENSP00000268712:S1221X	S	-	2	0	NCOR1	15919581	1.000000	0.71417	0.982000	0.44146	0.980000	0.70556	9.238000	0.95380	2.797000	0.96272	0.655000	0.94253	TCA		0.423	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	0	NM_006311		17:15978856
MAP2K6	5608	broad.mit.edu	37	17	67519707	67519707	+	Nonsense_Mutation	SNP	C	C	A	rs143627401		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:67519707C>A	ENST00000590474.1	+	8	875	c.588C>A	c.(586-588)tgC>tgA	p.C196*	MAP2K6_ENST00000589647.1_Nonsense_Mutation_p.C140*	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	196	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cell cycle arrest (GO:0007050)|cellular response to sorbitol (GO:0072709)|DNA damage induced protein phosphorylation (GO:0006975)|innate immune response (GO:0045087)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to ischemia (GO:0002931)|signal transduction (GO:0007165)|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)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					TGAAGATGTGCGATTTTGGAA	0.448																																						ENST00000590474.1		NA																	0				central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20						c.(586-588)tgC>tgA		mitogen-activated protein kinase kinase 6							332.0	294.0	307.0					17																	67519707		2203	4300	6503	SO:0001587	stop_gained	5608				activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:67519707C>A	U39064	CCDS11686.1	17q	2011-06-09						"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6846	protein-coding gene	gene with protein product	"""protein kinase, mitogen-activated, kinase 6 (MAP kinase kinase 6)"""	601254		PRKMK6		8621675	Standard	XM_005257515		Approved	MEK6, MKK6, SAPKK3, MAPKK6	uc002jij.3	P52564		ENST00000590474.1:c.588C>A	17.37:g.67519707C>A	ENSP00000468348:p.Cys196*	False	False		Somatic	0				MAP2K6_ENST00000589647.1_Nonsense_Mutation_p.C140*	p.C196*	NM_002758.3	NP_002749.2	WXS	Illumina HiSeq	Phase_I	P52564	MP2K6_HUMAN			8	875	+	Breast(10;6.05e-10)		196			Protein kinase.			Nonsense_Mutation	SNP	ENST00000590474.1	37	c.588C>A	CCDS11686.1	.	.	.	.	.	.	.	.	.	.	C	37	6.576599	0.97676	.	.	ENSG00000108984	ENST00000359094	.	.	.	5.73	-1.1	0.09872	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.3369	12.9116	0.58182	0.0:0.2066:0.0:0.7934	.	.	.	.	X	196	.	.	C	+	3	2	MAP2K6	65031302	0.881000	0.30235	0.989000	0.46669	0.998000	0.95712	-0.053000	0.11846	-0.502000	0.06596	0.655000	0.94253	TGC		0.448	MAP2K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450689.1	0	NM_002758		17:67519707
IQCG	84223	broad.mit.edu	37	3	197665429	197665429	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:197665429G>T	ENST00000265239.6	-	5	929	c.505C>A	c.(505-507)Cag>Aag	p.Q169K	IQCG_ENST00000480302.1_5'Flank|IQCG_ENST00000453254.1_Missense_Mutation_p.Q169K|IQCG_ENST00000455191.1_Missense_Mutation_p.Q169K	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	169						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		CTATCAATCTGAATTTTCTTC	0.453																																						ENST00000265239.6		NA																	0				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(505-507)Cag>Aag		IQ motif containing G							210.0	201.0	204.0					3																	197665429		2203	4300	6503	SO:0001583	missense	84223							g.chr3:197665429G>T	AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473			25251	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 9"""	612477				11230166, 23427265, 24362311	Standard	NM_032263		Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.505C>A	3.37:g.197665429G>T	ENSP00000265239:p.Gln169Lys	False	False		Somatic	0				IQCG_ENST00000455191.1_Missense_Mutation_p.Q169K|IQCG_ENST00000453254.1_Missense_Mutation_p.Q169K	p.Q169K	NM_032263.3	NP_115639.1	WXS	Illumina HiSeq	Phase_I	Q9H095	IQCG_HUMAN	Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)	5	929	-	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		169					Q9BST2|Q9HAG8	Missense_Mutation	SNP	ENST00000265239.6	37	c.505C>A	CCDS3331.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.251946	0.80135	.	.	ENSG00000114473	ENST00000265239;ENST00000455191;ENST00000453254;ENST00000416896	T;T;T;T	0.57107	0.66;0.66;0.96;0.42	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.73560	0.3602	M	0.81341	2.54	0.46927	D	0.999252	P;D	0.89917	0.911;1.0	P;D	0.71656	0.558;0.974	T	0.75764	-0.3203	10	0.59425	D	0.04	-21.4276	16.5383	0.84377	0.0:0.0:1.0:0.0	.	169;169	C9JKX8;Q9H095	.;IQCG_HUMAN	K	169;169;169;150	ENSP00000265239:Q169K;ENSP00000407736:Q169K;ENSP00000389897:Q169K;ENSP00000406411:Q150K	ENSP00000265239:Q169K	Q	-	1	0	IQCG	199149826	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	3.181000	0.50903	2.759000	0.94783	0.558000	0.71614	CAG		0.453	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339730.1	0	NM_032263		3:197665429
FGD4	121512	broad.mit.edu	37	12	32778699	32778699	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:32778699C>A	ENST00000427716.2	+	14	2171	c.1747C>A	c.(1747-1749)Cga>Aga	p.R583R	FGD4_ENST00000266482.3_Silent_p.R335R|FGD4_ENST00000525053.1_Silent_p.R695R|FGD4_ENST00000546442.1_Silent_p.R490R|FGD4_ENST00000534526.2_Silent_p.R720R|FGD4_ENST00000531134.1_Silent_p.R668R	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	583					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					GCATCATTGTCGAGCATGTGG	0.383																																						ENST00000427716.2		NA																	0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27						c.(1747-1749)Cga>Aga		FYVE, RhoGEF and PH domain containing 4							139.0	136.0	137.0					12																	32778699		2203	4300	6503	SO:0001819	synonymous_variant	121512				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:32778699C>A	AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19125	protein-coding gene	gene with protein product		611104	"""FGD1 family, member 4"""			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.1747C>A	12.37:g.32778699C>A		False	False		Somatic	0				FGD4_ENST00000534526.2_Silent_p.R720R|FGD4_ENST00000531134.1_Silent_p.R668R|FGD4_ENST00000266482.3_Silent_p.R335R|FGD4_ENST00000546442.1_Silent_p.R490R|FGD4_ENST00000525053.1_Silent_p.R695R	p.R583R	NM_139241.2	NP_640334.2	WXS	Illumina HiSeq	Phase_I	Q96M96	FGD4_HUMAN			14	2171	+	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		583					Q6ULS2|Q8TCP6	Silent	SNP	ENST00000427716.2	37	c.1747C>A	CCDS8727.1																																																																																				0.383	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	0	NM_139241		12:32778699
ANAPC5	51433	broad.mit.edu	37	12	121773451	121773451	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:121773451C>A	ENST00000261819.3	-	7	956	c.835G>T	c.(835-837)Gat>Tat	p.D279Y	ANAPC5_ENST00000441917.2_Missense_Mutation_p.D180Y|ANAPC5_ENST00000541887.1_Missense_Mutation_p.D279Y|ANAPC5_ENST00000536366.1_Missense_Mutation_p.D158Y|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000344395.4_Missense_Mutation_p.D180Y	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	279					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|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 K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ATCAGACGATCAAAATAATGG	0.448																																						ENST00000261819.3		NA																	0				breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31						c.(835-837)Gat>Tat		anaphase promoting complex subunit 5							114.0	113.0	113.0					12																	121773451		2203	4300	6503	SO:0001583	missense	51433				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr12:121773451C>A	AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"""Anaphase promoting complex subunits"""	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.835G>T	12.37:g.121773451C>A	ENSP00000261819:p.Asp279Tyr	True	False		Somatic	0				ANAPC5_ENST00000441917.2_Missense_Mutation_p.D180Y|ANAPC5_ENST00000536366.1_Missense_Mutation_p.D158Y|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000541887.1_Missense_Mutation_p.D279Y|ANAPC5_ENST00000344395.4_Missense_Mutation_p.D180Y	p.D279Y	NM_016237.4	NP_057321.2	WXS	Illumina HiSeq	Phase_I	Q9UJX4	APC5_HUMAN			7	956	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		279					E9PFB2|Q8N4H7|Q9BQD4	Missense_Mutation	SNP	ENST00000261819.3	37	c.835G>T	CCDS9220.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.978590	0.92982	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000344395;ENST00000536366;ENST00000544442	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.85234	0.5650	M	0.87328	2.875	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.86425	0.1757	9	0.87932	D	0	.	19.6319	0.95708	0.0:1.0:0.0:0.0	.	180;279	E9PFB2;Q9UJX4	.;APC5_HUMAN	Y	180;279;279;180;158;180	.	ENSP00000261819:D279Y	D	-	1	0	ANAPC5	120257834	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	7.188000	0.77739	2.890000	0.99128	0.650000	0.86243	GAT		0.448	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1	0			12:121773451
LRRC7	57554	broad.mit.edu	37	1	70446077	70446077	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:70446077C>A	ENST00000035383.5	+	7	643	c.613C>A	c.(613-615)Caa>Aaa	p.Q205K	LRRC7_ENST00000310961.5_Missense_Mutation_p.Q210K|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	205						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.Q205K(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGTTCTGGATCAAATACAAAA	0.328																																						ENST00000310961.5		NA																	1	Substitution - Missense(1)	p.Q205K(1)	lung(1)	breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(628-630)Caa>Aaa		leucine rich repeat containing 7							162.0	167.0	165.0					1																	70446077		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70446077C>A		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.613C>A	1.37:g.70446077C>A	ENSP00000035383:p.Gln205Lys	True	False		Somatic	0				LRRC7_ENST00000035383.5_Missense_Mutation_p.Q205K|LRRC7_ENST00000415775.2_5'UTR	p.Q210K			WXS	Illumina HiSeq	Phase_I	Q96NW7	LRRC7_HUMAN			10	1046	+			205					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.628C>A	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.679363	0.68042	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.23950	1.88;1.9	5.25	5.25	0.73442	.	0.059688	0.64402	D	0.000002	T	0.11153	0.0272	N	0.13168	0.305	0.80722	D	1	P	0.40197	0.706	B	0.43623	0.425	T	0.11299	-1.0593	10	0.25751	T	0.34	.	16.3726	0.83370	0.0:1.0:0.0:0.0	.	205	Q96NW7	LRRC7_HUMAN	K	210;205;28	ENSP00000309245:Q210K;ENSP00000035383:Q205K	ENSP00000035383:Q205K	Q	+	1	0	LRRC7	70218665	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.238000	0.78173	2.608000	0.88229	0.650000	0.86243	CAA		0.328	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	0	NM_020794		1:70446077
NADSYN1	55191	broad.mit.edu	37	11	71189504	71189504	+	Silent	SNP	C	C	A	rs547470892	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr11:71189504C>A	ENST00000319023.2	+	10	1050	c.862C>A	c.(862-864)Cga>Aga	p.R288R	NADSYN1_ENST00000539574.1_Silent_p.R28R|NADSYN1_ENST00000530055.1_5'Flank	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	288	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	GATTTCATCTCGAAACCTGGC	0.577													C|||	2	0.000399361	0.0	0.0	5008	,	,		18967	0.0		0.0	False		,,,				2504	0.002				Ovarian(79;763 1781 6490 50276)	ENST00000319023.2		NA																	0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(862-864)Cga>Aga		NAD synthetase 1	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						48.0	44.0	45.0					11																	71189504		2200	4294	6494	SO:0001819	synonymous_variant	55191				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding	g.chr11:71189504C>A	AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.862C>A	11.37:g.71189504C>A		False	False		Somatic	0				NADSYN1_ENST00000539574.1_Silent_p.R28R	p.R288R	NM_018161.4	NP_060631.2	WXS	Illumina HiSeq	Phase_I	Q6IA69	NADE_HUMAN			10	1050	+			288			CN hydrolase.		B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Silent	SNP	ENST00000319023.2	37	c.862C>A	CCDS8201.1																																																																																				0.577	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	0	NM_018161		11:71189504
CCRL2	9034	broad.mit.edu	37	3	46450404	46450404	+	Silent	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:46450404G>T	ENST00000399036.3	+	2	1186	c.834G>T	c.(832-834)ctG>ctT	p.L278L	CCRL2_ENST00000400882.2_Silent_p.L278L|CCRL2_ENST00000357392.4_Silent_p.L290L|RP11-24F11.2_ENST00000451485.1_RNA|CCRL2_ENST00000400880.3_Silent_p.L278L	NM_003965.4	NP_003956.2	O00421	CCRL2_HUMAN	chemokine (C-C motif) receptor-like 2	278					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CCR chemokine receptor binding (GO:0048020)|chemokine receptor activity (GO:0004950)|chemokine receptor binding (GO:0042379)			lung(3)|ovary(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)		GCTACAATCTGGACAAAAGTG	0.458																																						ENST00000399036.3		NA																	0				lung(3)|ovary(1)|urinary_tract(1)	5						c.(832-834)ctG>ctT		chemokine (C-C motif) receptor-like 2							238.0	248.0	244.0					3																	46450404		2171	4261	6432	SO:0001819	synonymous_variant	0				chemotaxis|inflammatory response	integral to plasma membrane	CCR chemokine receptor binding|chemokine receptor activity	g.chr3:46450404G>T	AF014958	CCDS43079.1, CCDS46814.1	3p21	2013-07-18	2013-07-18	2013-07-18	ENSG00000121797	ENSG00000121797		"""GPCR / Class A : Chemokine receptors : Atypical"""	1612	protein-coding gene	gene with protein product	"""atypical chemokine receptor 5"""	608379				9473515	Standard	NM_001130910		Approved	HCR, CRAM-B, CKRX, CRAM-A, ACKR5	uc003cpp.4	O00421	OTTHUMG00000156318	ENST00000399036.3:c.834G>T	3.37:g.46450404G>T		False	False		Somatic	0				CCRL2_ENST00000400882.2_Silent_p.L278L|CCRL2_ENST00000400880.3_Silent_p.L278L|CCRL2_ENST00000357392.4_Silent_p.L290L	p.L278L	NM_003965.4	NP_003956.2	WXS	Illumina HiSeq	Phase_I	O00421	CCRL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	2	1186	+			NA					B4DKQ8|O75307|Q4VBB0|Q6IPX0|Q7KYQ9|Q96KP5|Q9UPG0	Silent	SNP	ENST00000399036.3	37	c.834G>T	CCDS43079.1																																																																																				0.458	CCRL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343909.2	0			3:46450404
CMYA5	202333	broad.mit.edu	37	5	79025398	79025398	+	Silent	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:79025398G>A	ENST00000446378.2	+	2	841	c.810G>A	c.(808-810)gaG>gaA	p.E270E		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	270					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TTAGTCTAGAGCCAGATTTGG	0.353																																						ENST00000446378.2		NA																	0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(808-810)gaG>gaA		cardiomyopathy associated 5							51.0	48.0	49.0					5																	79025398		1857	4091	5948	SO:0001819	synonymous_variant	202333					perinuclear region of cytoplasm		g.chr5:79025398G>A	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.810G>A	5.37:g.79025398G>A		False	False		Somatic	0					p.E270E	NM_153610.3	NP_705838.3	WXS	Illumina HiSeq	Phase_I	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	841	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	270					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	ENST00000446378.2	37	c.810G>A	CCDS47238.1																																																																																				0.353	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	0	NM_153610		5:79025398
ARHGEF10L	55160	broad.mit.edu	37	1	17958842	17958842	+	Silent	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:17958842G>A	ENST00000361221.3	+	16	1770	c.1611G>A	c.(1609-1611)ctG>ctA	p.L537L	ARHGEF10L_ENST00000434513.1_Silent_p.L537L|ARHGEF10L_ENST00000375408.3_Silent_p.L315L|ARHGEF10L_ENST00000452522.1_Silent_p.L498L|ARHGEF10L_ENST00000167825.4_Silent_p.L245L|ARHGEF10L_ENST00000375415.1_Silent_p.L498L|ARHGEF10L_ENST00000375420.3_Silent_p.L295L|ARHGEF10L_ENST00000469726.1_3'UTR	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	537						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		AGCGGCAGCTGCTCCTGTGTG	0.627																																						ENST00000361221.3		NA																	0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(1609-1611)ctG>ctA		Rho guanine nucleotide exchange factor (GEF) 10-like							77.0	78.0	78.0					1																	17958842		2203	4300	6503	SO:0001819	synonymous_variant	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17958842G>A	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.1611G>A	1.37:g.17958842G>A		False	False		Somatic	0				ARHGEF10L_ENST00000452522.1_Silent_p.L498L|ARHGEF10L_ENST00000434513.1_Silent_p.L537L|ARHGEF10L_ENST00000375420.3_Silent_p.L295L|ARHGEF10L_ENST00000167825.4_Silent_p.L245L|ARHGEF10L_ENST00000375408.3_Silent_p.L315L|ARHGEF10L_ENST00000375415.1_Silent_p.L498L|ARHGEF10L_ENST00000469726.1_3'UTR	p.L537L	NM_018125.3	NP_060595	WXS	Illumina HiSeq	Phase_I	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	16	1770	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	537					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Silent	SNP	ENST00000361221.3	37	c.1611G>A	CCDS182.1																																																																																				0.627	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	0	NM_018125		1:17958842
PPFIA1	8500	broad.mit.edu	37	11	70172768	70172768	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr11:70172768C>A	ENST00000253925.7	+	7	989	c.774C>A	c.(772-774)atC>atA	p.I258I	CTA-797E19.2_ENST00000526017.1_RNA|PPFIA1_ENST00000389547.3_Silent_p.I258I|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	258					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TCCAAGAAATCATAAGTAAGC	0.433																																						ENST00000253925.7		NA																	0				breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65						c.(772-774)atC>atA		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1							191.0	201.0	197.0					11																	70172768		2200	4294	6494	SO:0001819	synonymous_variant	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70172768C>A	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.774C>A	11.37:g.70172768C>A		False	False		Somatic	0				AP000487.6_ENST00000528607.1_RNA|CTA-797E19.2_ENST00000526017.1_RNA|PPFIA1_ENST00000389547.3_Silent_p.I258I	p.I258I	NM_003626.3	NP_003617.1	WXS	Illumina HiSeq	Phase_I	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		7	989	+			258					A6NLE3|Q13135|Q14567|Q8N4I2	Silent	SNP	ENST00000253925.7	37	c.774C>A	CCDS31627.1																																																																																				0.433	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	0	NM_003626		11:70172768
HEATR9	256957	broad.mit.edu	37	17	34182158	34182158	+	Nonsense_Mutation	SNP	G	G	T	rs114102494	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:34182158G>T	ENST00000311880.2	-	15	1770	c.1622C>A	c.(1621-1623)tCg>tAg	p.S541*	C17orf66_ENST00000592980.1_Nonsense_Mutation_p.S501*	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		541					hematopoietic progenitor cell differentiation (GO:0002244)					breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		TCGTGGTTTCGAGCAGCACGG	0.478																																						ENST00000311880.2		NA																	0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38						c.(1621-1623)tCg>tAg		chromosome 17 open reading frame 66							179.0	159.0	166.0					17																	34182158		2203	4300	6503	SO:0001587	stop_gained	256957						binding	g.chr17:34182158G>T																												ENST00000311880.2:c.1622C>A	17.37:g.34182158G>T	ENSP00000309560:p.Ser541*	False	False		Somatic	0				C17orf66_ENST00000592980.1_Nonsense_Mutation_p.S501*	p.S541*	NM_152781.2	NP_689994.2	WXS	Illumina HiSeq	Phase_I	A2RTY3	CQ066_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	15	1770	-		Ovarian(249;0.17)	541					B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Nonsense_Mutation	SNP	ENST00000311880.2	37	c.1622C>A	CCDS11299.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.285540	0.59867	.	.	ENSG00000172653	ENST00000311880	.	.	.	3.32	1.31	0.21738	.	0.687649	0.12769	N	0.440695	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.3942	0.16261	0.2631:0.0:0.7369:0.0	.	.	.	.	X	541	.	ENSP00000309560:S541X	S	-	2	0	C17orf66	31206271	0.005000	0.15991	0.001000	0.08648	0.016000	0.09150	0.204000	0.17335	0.419000	0.25927	0.591000	0.81541	TCG		0.478	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256487.1	0			17:34182158
PTPN4	5775	broad.mit.edu	37	2	120692428	120692428	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:120692428G>T	ENST00000263708.2	+	15	2020	c.1249G>T	c.(1249-1251)Ggt>Tgt	p.G417C	PTPN4_ENST00000544261.1_Missense_Mutation_p.G50C	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	417					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	ATCTTCAGTTGGTCATTTGGT	0.388																																						ENST00000263708.2		NA																	0				endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30						c.(1249-1251)Ggt>Tgt		protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	Alendronate(DB00630)						139.0	124.0	129.0					2																	120692428		2203	4300	6503	SO:0001583	missense	5775					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity	g.chr2:120692428G>T		CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.1249G>T	2.37:g.120692428G>T	ENSP00000263708:p.Gly417Cys	False	False		Somatic	0				PTPN4_ENST00000544261.1_Missense_Mutation_p.G50C	p.G417C	NM_002830.3	NP_002821.1	WXS	Illumina HiSeq	Phase_I	P29074	PTN4_HUMAN			15	2020	+			417					B2RBV8|Q9UDA7	Missense_Mutation	SNP	ENST00000263708.2	37	c.1249G>T	CCDS2129.1	.	.	.	.	.	.	.	.	.	.	G	31	5.079925	0.94050	.	.	ENSG00000088179	ENST00000263708;ENST00000544261;ENST00000431283	T;T;T	0.68479	-0.33;-0.33;-0.33	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.81297	0.4793	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.81254	-0.1016	10	0.72032	D	0.01	.	20.3046	0.98621	0.0:0.0:1.0:0.0	.	417	P29074	PTN4_HUMAN	C	417;50;43	ENSP00000263708:G417C;ENSP00000445841:G50C;ENSP00000387457:G43C	ENSP00000263708:G417C	G	+	1	0	PTPN4	120408898	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.847000	0.92166	2.878000	0.98634	0.650000	0.86243	GGT		0.388	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2	0			2:120692428
STAT1	6772	broad.mit.edu	37	2	191847210	191847210	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:191847210C>T	ENST00000361099.3	-	18	1868	c.1481G>A	c.(1480-1482)cGa>cAa	p.R494Q	STAT1_ENST00000409465.1_Missense_Mutation_p.R494Q|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392322.3_Missense_Mutation_p.R494Q|STAT1_ENST00000392323.2_Missense_Mutation_p.R496Q	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	494					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			CTGAGCCCATCGTGCACATGG	0.463																																						ENST00000361099.3		NA																	0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1480-1482)cGa>cAa		signal transducer and activator of transcription 1, 91kDa	Fludarabine(DB01073)						101.0	101.0	101.0					2																	191847210		2203	4300	6503	SO:0001583	missense	6772				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191847210C>T		CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"""SH2 domain containing"""	11362	protein-coding gene	gene with protein product	"""transcription factor ISGF-3 components p91/p84"""	600555	"""signal transducer and activator of transcription 1, 91kD"""			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.1481G>A	2.37:g.191847210C>T	ENSP00000354394:p.Arg494Gln	False	False		Somatic	0				STAT1_ENST00000392323.2_Missense_Mutation_p.R496Q|STAT1_ENST00000409465.1_Missense_Mutation_p.R494Q|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392322.3_Missense_Mutation_p.R494Q	p.R494Q	NM_007315.3	NP_009330.1	WXS	Illumina HiSeq	Phase_I	P42224	STAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		18	1868	-			494					A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP	ENST00000361099.3	37	c.1481G>A	CCDS2309.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.112096	0.37242	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000392322;ENST00000392323	T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02	5.31	3.15	0.36227	STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);EF-hand-like domain (1);	0.310219	0.34932	N	0.003580	T	0.61986	0.2391	L	0.31664	0.95	0.18873	N	0.999986	B;B	0.20780	0.048;0.005	B;B	0.17098	0.016;0.017	T	0.41945	-0.9480	10	0.12766	T	0.61	-3.6255	10.1437	0.42751	0.0:0.7608:0.0:0.2392	.	494;494	P42224-2;P42224	.;STAT1_HUMAN	Q	494;494;494;496	ENSP00000354394:R494Q;ENSP00000386244:R494Q;ENSP00000376136:R494Q;ENSP00000376137:R496Q	ENSP00000354394:R494Q	R	-	2	0	STAT1	191555455	0.002000	0.14202	0.932000	0.37286	0.981000	0.71138	0.290000	0.18975	1.304000	0.44892	0.655000	0.94253	CGA		0.463	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	0	NM_007315		2:191847210
PPP2R2B	5521	broad.mit.edu	37	5	146080689	146080689	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:146080689C>A	ENST00000394413.3	-	2	657	c.87G>T	c.(85-87)acG>acT	p.T29T	PPP2R2B_ENST00000453001.1_Silent_p.T29T|PPP2R2B_ENST00000336640.6_Silent_p.T32T|PPP2R2B_ENST00000394409.3_Silent_p.T87T|PPP2R2B_ENST00000394414.1_Silent_p.T95T|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000508545.2_Silent_p.T18T|PPP2R2B_ENST00000356826.3_Silent_p.T29T|PPP2R2B_ENST00000394410.2_Silent_p.T18T|PPP2R2B_ENST00000394411.4_Silent_p.T29T|PPP2R2B_ENST00000504198.1_Silent_p.T35T			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	29					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGAATTCTACCGTAGAGATAA	0.418																																						ENST00000394413.3		NA																	0				endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32						c.(85-87)acG>acT		protein phosphatase 2, regulatory subunit B, beta							237.0	249.0	245.0					5																	146080689		2203	4300	6503	SO:0001819	synonymous_variant	5521				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr5:146080689C>A	M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9305	protein-coding gene	gene with protein product	"""PP2A subunit B isoform beta"""	604325	"""spinocerebellar ataxia 12"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"""	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.87G>T	5.37:g.146080689C>A		False	False		Somatic	0				PPP2R2B_ENST00000394409.3_Silent_p.T87T|PPP2R2B_ENST00000508545.2_Silent_p.T18T|PPP2R2B_ENST00000394410.2_Silent_p.T18T|PPP2R2B_ENST00000336640.6_Silent_p.T32T|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394411.4_Silent_p.T29T|PPP2R2B_ENST00000394414.1_Silent_p.T95T|PPP2R2B_ENST00000453001.1_Silent_p.T29T|PPP2R2B_ENST00000356826.3_Silent_p.T29T|PPP2R2B_ENST00000504198.1_Silent_p.T35T	p.T29T			WXS	Illumina HiSeq	Phase_I	Q00005	2ABB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	657	-			29					A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Silent	SNP	ENST00000394413.3	37	c.87G>T	CCDS4284.1																																																																																				0.418	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	0	NM_181678		5:146080689
ZNF442	79973	broad.mit.edu	37	19	12461420	12461420	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:12461420C>A	ENST00000242804.4	-	6	1561	c.979G>T	c.(979-981)Ggg>Tgg	p.G327W	ZNF442_ENST00000438182.1_Missense_Mutation_p.G258W|CTD-3105H18.13_ENST00000563695.2_lincRNA	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	327					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(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						AATGCTTTCCCGCATTGCTTG	0.418																																						ENST00000242804.4		NA																	0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(979-981)Ggg>Tgg		zinc finger protein 442							211.0	204.0	206.0					19																	12461420		2203	4300	6503	SO:0001583	missense	79973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12461420C>A	AK024418	CCDS12271.1	19p13.13	2013-01-08			ENSG00000198342	ENSG00000198342		"""Zinc fingers, C2H2-type"", ""-"""	20877	protein-coding gene	gene with protein product							Standard	NM_030824		Approved	FLJ14356	uc002mtr.1	Q9H7R0	OTTHUMG00000156411	ENST00000242804.4:c.979G>T	19.37:g.12461420C>A	ENSP00000242804:p.Gly327Trp	True	False		Somatic	0				ZNF442_ENST00000438182.1_Missense_Mutation_p.G258W	p.G327W	NM_030824.2	NP_110451.1	WXS	Illumina HiSeq	Phase_I	Q9H7R0	ZN442_HUMAN			6	1561	-			327					B4DJ48	Missense_Mutation	SNP	ENST00000242804.4	37	c.979G>T	CCDS12271.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.379391	0.42207	.	.	ENSG00000198342	ENST00000242804;ENST00000438182	T;T	0.01051	5.4;5.4	0.832	-0.357	0.12579	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08358	0.0208	H	0.96080	3.765	0.34524	D	0.708446	D	0.89917	1.0	D	0.97110	1.0	T	0.05131	-1.0904	9	0.87932	D	0	.	5.1771	0.15141	0.0:0.7619:0.0:0.2381	.	327	Q9H7R0	ZN442_HUMAN	W	327;258	ENSP00000242804:G327W;ENSP00000388634:G258W	ENSP00000242804:G327W	G	-	1	0	ZNF442	12322420	0.009000	0.17119	0.000000	0.03702	0.227000	0.25037	0.946000	0.29069	-0.077000	0.12752	0.313000	0.20887	GGG		0.418	ZNF442-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344109.1	0	NM_030824		19:12461420
SPIRE1	56907	broad.mit.edu	37	18	12535496	12535496	+	Silent	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr18:12535496G>T	ENST00000409402.4	-	4	975	c.708C>A	c.(706-708)acC>acA	p.T236T	SPIRE1_ENST00000383356.2_Silent_p.T77T|SPIRE1_ENST00000453447.2_Silent_p.T116T|SPIRE1_ENST00000410092.3_Silent_p.T236T|SPIRE1_ENST00000309836.5_Silent_p.T39T|snoU13_ENST00000459256.1_RNA	NM_001128626.1	NP_001122098.1			spire-type actin nucleation factor 1											breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						TCTTAATTTTGGTCAGAAATG	0.393																																						ENST00000409402.4		NA																	0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						c.(706-708)acC>acA		spire-type actin nucleation factor 1							157.0	140.0	146.0					18																	12535496		2203	4300	6503	SO:0001819	synonymous_variant	56907					cytoskeleton|perinuclear region of cytoplasm	actin binding	g.chr18:12535496G>T	AL833817	CCDS32790.2, CCDS45829.1, CCDS45830.1	18p11.21	2013-08-27	2013-08-27		ENSG00000134278	ENSG00000134278			30622	protein-coding gene	gene with protein product		609216	"""spire homolog 1 (Drosophila)"", ""spire family actin nucleation factor 1"""			10574461, 11747823	Standard	NM_001128626		Approved	spir-1, KIAA1135	uc002kre.3	Q08AE8	OTTHUMG00000153940	ENST00000409402.4:c.708C>A	18.37:g.12535496G>T		True	False		Somatic	0				SPIRE1_ENST00000383356.2_Silent_p.T77T|SPIRE1_ENST00000309836.5_Silent_p.T39T|SPIRE1_ENST00000453447.2_Silent_p.T116T|SPIRE1_ENST00000410092.3_Silent_p.T236T	p.T236T	NM_001128626.1	NP_001122098.1	WXS	Illumina HiSeq	Phase_I	Q08AE8	SPIR1_HUMAN			4	975	-			236						Silent	SNP	ENST00000409402.4	37	c.708C>A	CCDS45829.1																																																																																				0.393	SPIRE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333109.2	0	XM_290818		18:12535496
DSE	29940	broad.mit.edu	37	6	116756757	116756757	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr6:116756757G>T	ENST00000331677.3	+	7	1570	c.1126G>T	c.(1126-1128)Ggc>Tgc	p.G376C	DSE_ENST00000537543.1_Missense_Mutation_p.G395C|DSE_ENST00000359564.2_Missense_Mutation_p.G376C|DSE_ENST00000452085.3_Missense_Mutation_p.G376C			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	376					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		CAGGTATGATGGCAGCTTGAA	0.408																																						ENST00000331677.3		NA																	0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1126-1128)Ggc>Tgc		dermatan sulfate epimerase							77.0	78.0	78.0					6																	116756757		2203	4300	6503	SO:0001583	missense	29940				dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity	g.chr6:116756757G>T	AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"""squamous cell carcinoma antigen recognized by T cells 2"""	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.1126G>T	6.37:g.116756757G>T	ENSP00000332151:p.Gly376Cys	False	False		Somatic	0				DSE_ENST00000359564.2_Missense_Mutation_p.G376C|DSE_ENST00000452085.3_Missense_Mutation_p.G376C|DSE_ENST00000537543.1_Missense_Mutation_p.G395C	p.G376C			WXS	Illumina HiSeq	Phase_I	Q9UL01	DSE_HUMAN		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)	7	1570	+		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)	376					Q5R3K6	Missense_Mutation	SNP	ENST00000331677.3	37	c.1126G>T	CCDS5107.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.647492	0.29246	.	.	ENSG00000111817	ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	T;T;T;T	0.17528	2.27;2.27;2.27;2.27	5.99	5.11	0.69529	.	0.107851	0.64402	D	0.000006	T	0.04452	0.0122	N	0.08118	0	0.29751	N	0.836299	B;B	0.14438	0.01;0.01	B;B	0.11329	0.006;0.003	T	0.27226	-1.0080	10	0.62326	D	0.03	-11.7541	17.1813	0.86856	0.0:0.1261:0.8739:0.0	.	395;376	B7Z765;Q9UL01	.;DSE_HUMAN	C	376;395;376;376	ENSP00000404049:G376C;ENSP00000441152:G395C;ENSP00000332151:G376C;ENSP00000352567:G376C	ENSP00000332151:G376C	G	+	1	0	DSE	116863450	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.663000	0.68038	1.499000	0.48617	0.655000	0.94253	GGC		0.408	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	0	NM_013352		6:116756757
IDI1	3422	broad.mit.edu	37	10	1087287	1087287	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr10:1087287G>T	ENST00000381344.3	-	5	861	c.695C>A	c.(694-696)tCa>tAa	p.S232*	IDI1_ENST00000491735.1_5'UTR|RNU7-163P_ENST00000459467.1_RNA|IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000437374.1_RNA|IDI2-AS1_ENST00000536039.1_RNA	NM_004508.2	NP_004499.2	Q13907	IDI1_HUMAN	isopentenyl-diphosphate delta isomerase 1	175					cholesterol biosynthetic process (GO:0006695)|dimethylallyl diphosphate biosynthetic process (GO:0050992)|isoprenoid biosynthetic process (GO:0008299)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|isopentenyl-diphosphate delta-isomerase activity (GO:0004452)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metal ion binding (GO:0046872)			large_intestine(3)|lung(2)|prostate(1)	6		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)		TTCTTCCTTTGACACATAACA	0.348																																						ENST00000381344.3		NA																	0				large_intestine(3)|lung(2)|prostate(1)	6						c.(694-696)tCa>tAa		isopentenyl-diphosphate delta isomerase 1							93.0	94.0	94.0					10																	1087287		2202	4299	6501	SO:0001587	stop_gained	3422				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding	g.chr10:1087287G>T	BC006999	CCDS7056.1	10p15.3	2003-11-12	2005-07-25		ENSG00000067064	ENSG00000067064	5.3.3.2		5387	protein-coding gene	gene with protein product	"""IPP isomerase"""	604055	"""isopentenyl-diphosphate delta isomerase"""			8020941	Standard	NM_004508		Approved		uc001iga.3	Q13907	OTTHUMG00000017536	ENST00000381344.3:c.695C>A	10.37:g.1087287G>T	ENSP00000370748:p.Ser232*	True	False		Somatic	0				IDI2-AS1_ENST00000437374.1_RNA|IDI1_ENST00000491735.1_5'UTR|IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000420381.1_RNA	p.S232*	NM_004508.2	NP_004499.2	WXS	Illumina HiSeq	Phase_I	Q13907	IDI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)	5	861	-		all_epithelial(10;0.107)|Colorectal(49;0.14)	175					B4E155|Q32Q13|Q53GQ6|Q86U81|Q8WUX8|Q96IZ4|Q9BQ74	Nonsense_Mutation	SNP	ENST00000381344.3	37	c.695C>A	CCDS7056.1	.	.	.	.	.	.	.	.	.	.	G	34	5.401817	0.96030	.	.	ENSG00000067064	ENST00000381344	.	.	.	5.72	5.72	0.89469	.	0.564741	0.19803	N	0.105709	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.3922	20.2504	0.98404	0.0:0.0:1.0:0.0	.	.	.	.	X	232	.	ENSP00000370748:S232X	S	-	2	0	IDI1	1077287	1.000000	0.71417	0.948000	0.38648	0.595000	0.36748	5.650000	0.67944	2.850000	0.98022	0.650000	0.86243	TCA		0.348	IDI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046409.2	0	NM_004508		10:1087287
PRDM5	11107	broad.mit.edu	37	4	121739540	121739540	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr4:121739540C>A	ENST00000264808.3	-	5	858	c.618G>T	c.(616-618)aaG>aaT	p.K206N	PRDM5_ENST00000428209.2_Missense_Mutation_p.K206N|PRDM5_ENST00000515109.1_Missense_Mutation_p.K206N	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	206					histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTGGGAATTTCTTCCCACAGT	0.373																																						ENST00000264808.3		NA																	0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(616-618)aaG>aaT		PR domain containing 5							91.0	86.0	88.0					4																	121739540		2203	4300	6503	SO:0001583	missense	11107				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr4:121739540C>A	AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"""Zinc fingers, C2H2-type"""	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.618G>T	4.37:g.121739540C>A	ENSP00000264808:p.Lys206Asn	True	False		Somatic	0				PRDM5_ENST00000428209.2_Missense_Mutation_p.K206N|PRDM5_ENST00000515109.1_Missense_Mutation_p.K206N	p.K206N	NM_018699.2	NP_061169.2	WXS	Illumina HiSeq	Phase_I	Q9NQX1	PRDM5_HUMAN			5	858	-			206					Q0VAI9|Q0VAJ0|Q6NXQ7	Missense_Mutation	SNP	ENST00000264808.3	37	c.618G>T	CCDS3716.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.358729	0.82243	.	.	ENSG00000138738	ENST00000264808;ENST00000515109;ENST00000428209	T;T;T	0.61158	0.13;0.13;0.13	5.32	5.32	0.75619	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.79257	0.4415	M	0.84219	2.685	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.998	T	0.82165	-0.0592	10	0.72032	D	0.01	-32.109	19.0126	0.92879	0.0:1.0:0.0:0.0	.	206;206;206	Q0VAI9;Q9NQX1-2;Q9NQX1	.;.;PRDM5_HUMAN	N	206	ENSP00000264808:K206N;ENSP00000422309:K206N;ENSP00000404832:K206N	ENSP00000264808:K206N	K	-	3	2	PRDM5	121958990	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.395000	0.59678	2.498000	0.84270	0.555000	0.69702	AAG		0.373	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2	0			4:121739540
FAT4	79633	broad.mit.edu	37	4	126370128	126370128	+	Nonsense_Mutation	SNP	G	G	T	rs556536853	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr4:126370128G>T	ENST00000394329.3	+	9	7970	c.7957G>T	c.(7957-7959)Gag>Tag	p.E2653*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.E951*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2653	Cadherin 25. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ctCCTCTTACGAGAAACTTGA	0.373																																						ENST00000394329.3		NA																	0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(7957-7959)Gag>Tag		FAT atypical cadherin 4							54.0	57.0	56.0					4																	126370128		2203	4300	6503	SO:0001587	stop_gained	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126370128G>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.7957G>T	4.37:g.126370128G>T	ENSP00000377862:p.Glu2653*	False	False		Somatic	0				FAT4_ENST00000335110.5_Nonsense_Mutation_p.E951*	p.E2653*	NM_024582.4	NP_078858.4	WXS	Illumina HiSeq	Phase_I	Q6V0I7	FAT4_HUMAN			9	7970	+			2653			Cadherin 25.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Nonsense_Mutation	SNP	ENST00000394329.3	37	c.7957G>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	49	15.050129	0.99820	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	.	.	.	5.71	5.71	0.89125	.	0.214766	0.22554	U	0.058541	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	13.5378	0.61655	0.0799:0.0:0.9201:0.0	.	.	.	.	X	2653;951	.	ENSP00000335169:E951X	E	+	1	0	FAT4	126589578	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	5.431000	0.66507	2.686000	0.91538	0.650000	0.86243	GAG		0.373	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	0	NM_024582		4:126370128
HDLBP	3069	broad.mit.edu	37	2	242187757	242187757	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:242187757C>A	ENST00000391975.1	-	13	1746	c.1519G>T	c.(1519-1521)Gag>Tag	p.E507*	HDLBP_ENST00000476807.1_5'UTR|HDLBP_ENST00000427183.2_Nonsense_Mutation_p.E474*|HDLBP_ENST00000310931.4_Nonsense_Mutation_p.E507*|HDLBP_ENST00000391976.2_Nonsense_Mutation_p.E507*	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	507	KH 5. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		TTGGTACGCTCATTTTCCTAA	0.463																																						ENST00000391975.1		NA																	0				breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1519-1521)Gag>Tag		high density lipoprotein binding protein							113.0	108.0	110.0					2																	242187757		2203	4300	6503	SO:0001587	stop_gained	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242187757C>A		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.1519G>T	2.37:g.242187757C>A	ENSP00000375836:p.Glu507*	False	False		Somatic	0				HDLBP_ENST00000310931.4_Nonsense_Mutation_p.E507*|HDLBP_ENST00000427183.2_Nonsense_Mutation_p.E474*|HDLBP_ENST00000391976.2_Nonsense_Mutation_p.E507*|HDLBP_ENST00000476807.1_5'UTR	p.E507*	NM_203346.3	NP_976221	WXS	Illumina HiSeq	Phase_I	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	13	1746	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	507			KH 5.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Nonsense_Mutation	SNP	ENST00000391975.1	37	c.1519G>T	CCDS2547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	43|43	9.954687|9.954687	0.99304|0.99304	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183;ENST00000452931|ENST00000373292	.|.	.|.	.|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.56958|.	D|.	0.05|.	-40.5689|-40.5689	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	507;507;507;474;16|315	.|.	ENSP00000312042:E507X|.	E|X	-|-	1|2	0|2	HDLBP|HDLBP	241836430|241836430	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.978000|0.978000	0.69477|0.69477	7.755000|7.755000	0.85180|0.85180	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAG|TGA		0.463	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	0	NM_203346		2:242187757
TRANK1	9881	broad.mit.edu	37	3	36897208	36897208	+	Silent	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:36897208G>T	ENST00000429976.2	-	12	4120	c.3873C>A	c.(3871-3873)acC>acA	p.T1291T	TRANK1_ENST00000428977.2_Silent_p.T741T|TRANK1_ENST00000301807.6_Silent_p.T741T	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1291							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TCCTCCCTTTGGTCATTTTGG	0.473																																						ENST00000429976.2		NA																	0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(3871-3873)acC>acA		tetratricopeptide repeat and ankyrin repeat containing 1							199.0	195.0	197.0					3																	36897208		1930	4148	6078	SO:0001819	synonymous_variant	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36897208G>T	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.3873C>A	3.37:g.36897208G>T		True	False		Somatic	0				TRANK1_ENST00000428977.2_Silent_p.T741T|TRANK1_ENST00000301807.6_Silent_p.T741T	p.T1291T	NM_014831.2	NP_055646.2	WXS	Illumina HiSeq	Phase_I	O15050	TRNK1_HUMAN			12	4120	-			1291					Q8N8K0	Silent	SNP	ENST00000429976.2	37	c.3873C>A	CCDS46789.2																																																																																				0.473	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	NM_014831		3:36897208
KIRREL	55243	broad.mit.edu	37	1	158057941	158057941	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:158057941C>A	ENST00000359209.6	+	7	980	c.913C>A	c.(913-915)Cac>Aac	p.H305N	KIRREL_ENST00000360089.4_Missense_Mutation_p.H141N|KIRREL_ENST00000416935.2_Missense_Mutation_p.H205N|KIRREL_ENST00000392272.2_Missense_Mutation_p.H202N|KIRREL_ENST00000368172.1_Missense_Mutation_p.H103N|KIRREL_ENST00000368173.3_Missense_Mutation_p.H305N			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	305					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)	p.H305N(2)|p.H141N(1)		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)					AGTAAATGTCCACTGTGAGTA	0.532											OREG0013906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000368172.1		NA																	3	Substitution - Missense(3)	p.H305N(2)|p.H141N(1)	lung(3)	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						c.(307-309)Cac>Aac		kin of IRRE like (Drosophila)							122.0	130.0	127.0					1																	158057941		2203	4300	6503	SO:0001583	missense	55243					integral to membrane		g.chr1:158057941C>A	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.913C>A	1.37:g.158057941C>A	ENSP00000352138:p.His305Asn	False	False		Somatic	0	OREG0013906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1790	KIRREL_ENST00000368173.3_Missense_Mutation_p.H305N|KIRREL_ENST00000392272.2_Missense_Mutation_p.H202N|KIRREL_ENST00000416935.2_Missense_Mutation_p.H205N|KIRREL_ENST00000359209.6_Missense_Mutation_p.H305N|KIRREL_ENST00000360089.4_Missense_Mutation_p.H141N	p.H103N			WXS	Illumina HiSeq	Phase_I	Q96J84	KIRR1_HUMAN			3	319	+	all_hematologic(112;0.0378)		305			Ig-like C2-type 1.		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	ENST00000359209.6	37	c.307C>A	CCDS1172.2	.	.	.	.	.	.	.	.	.	.	C	19.70	3.875650	0.72180	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76;2.76	5.44	5.44	0.79542	.	0.000000	0.45606	D	0.000341	T	0.07683	0.0193	L	0.45228	1.405	0.80722	D	1	P;P;P;P	0.44521	0.605;0.571;0.684;0.837	B;B;B;B	0.43536	0.288;0.312;0.423;0.346	T	0.16453	-1.0402	10	0.37606	T	0.19	-44.7724	16.7618	0.85514	0.0:1.0:0.0:0.0	.	205;141;103;305	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	N	141;305;202;305;205;103	ENSP00000353202:H141N;ENSP00000357155:H305N;ENSP00000376098:H202N;ENSP00000352138:H305N;ENSP00000389674:H205N;ENSP00000357154:H103N	ENSP00000352138:H305N	H	+	1	0	KIRREL	156324565	0.994000	0.37717	0.996000	0.52242	0.987000	0.75469	3.117000	0.50407	2.557000	0.86248	0.557000	0.71058	CAC		0.532	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	0	NM_018240		1:158057941
MYH7	4625	broad.mit.edu	37	14	23898270	23898270	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr14:23898270C>T	ENST00000355349.3	-	14	1463	c.1301G>A	c.(1300-1302)aGg>aAg	p.R434K		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	434	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GTTGAACATCCTCTCATACAC	0.542																																						ENST00000355349.3		NA																	0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(1300-1302)aGg>aAg		myosin, heavy chain 7, cardiac muscle, beta							144.0	127.0	133.0					14																	23898270		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23898270C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.1301G>A	14.37:g.23898270C>T	ENSP00000347507:p.Arg434Lys	False	False		Somatic	0					p.R434K	NM_000257.2	NP_000248.2	WXS	Illumina HiSeq	Phase_I	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	14	1463	-	all_cancers(95;2.54e-05)		434			Myosin head-like.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.1301G>A	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	c	1.349	-0.591893	0.03799	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.88664	-2.41	4.18	-2.61	0.06171	Myosin head, motor domain (2);	.	.	.	.	T	0.78419	0.4280	N	0.25825	0.765	0.21782	N	0.999541	B	0.02656	0.0	B	0.01281	0.0	T	0.59440	-0.7454	9	0.10902	T	0.67	.	11.4013	0.49873	0.0:0.3619:0.0:0.6381	.	434	P12883	MYH7_HUMAN	K	434	ENSP00000347507:R434K	ENSP00000347507:R434K	R	-	2	0	MYH7	22968110	0.983000	0.35010	0.980000	0.43619	0.520000	0.34377	0.109000	0.15417	-0.725000	0.04901	-1.662000	0.00750	AGG		0.542	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	0	NM_000257		14:23898270
RP11-156P1.3	0	broad.mit.edu	37	17	45128735	45128735	+	RNA	SNP	T	T	C			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:45128735T>C	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							GAAATACTAATGATTTTTATT	0.323																																						ENST00000575173.1		NA																	0					NA																																														0							g.chr17:45128735T>C																													17.37:g.45128735T>C		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	418	-			NA						RNA	SNP	ENST00000575173.1	37																																																																																						0.323	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1	0			17:45128735
SSUH2	51066	broad.mit.edu	37	3	8669466	8669466	+	Missense_Mutation	SNP	G	G	A	rs377451237		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:8669466G>A	ENST00000317371.4	-	15	1751	c.526C>T	c.(526-528)Cgg>Tgg	p.R176W	SSUH2_ENST00000341795.3_Missense_Mutation_p.R176W|SSUH2_ENST00000544814.1_Missense_Mutation_p.R198W|SSUH2_ENST00000415132.1_Missense_Mutation_p.R176W			Q9Y2M2	SSUH2_HUMAN	ssu-2 homolog (C. elegans)	176	Cys-rich.					cytoplasm (GO:0005737)											GATGGGCACCGCACCTGCAGA	0.662																																						ENST00000317371.4		NA																	0					NA						c.(526-528)Cgg>Tgg		ssu-2 homolog (C. elegans)		G	TRP/ARG	0,4406		0,0,2203	47.0	43.0	44.0		526	-5.2	0.0	3		44	1,8599	1.2+/-3.3	0,1,4299	no	missense	C3orf32	NM_015931.1	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	176/354	8669466	1,13005	2203	4300	6503	SO:0001583	missense	51066							g.chr3:8669466G>A	AB024705	CCDS2568.1, CCDS58815.1	3p25.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000125046	ENSG00000125046			24809	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 32"""	C3orf32		20205943	Standard	NM_001256748		Approved	fls485, ssu-2	uc011atg.3	Q9Y2M2	OTTHUMG00000122075	ENST00000317371.4:c.526C>T	3.37:g.8669466G>A	ENSP00000324551:p.Arg176Trp	True	False		Somatic	0				SSUH2_ENST00000415132.1_Missense_Mutation_p.R176W|SSUH2_ENST00000544814.1_Missense_Mutation_p.R198W|SSUH2_ENST00000341795.3_Missense_Mutation_p.R176W	p.R176W			WXS	Illumina HiSeq	Phase_I					15	1751	-			NA					A6NFA9|B3KS84|B7Z6E3|F5H2S5|Q7Z7K4	Missense_Mutation	SNP	ENST00000317371.4	37	c.526C>T	CCDS2568.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.086021	0.36855	0.0	1.16E-4	ENSG00000125046	ENST00000341795;ENST00000317371;ENST00000415132;ENST00000544814	T;T;T;T	0.49720	0.79;0.79;0.77;0.79	5.36	-5.21	0.02815	.	0.285278	0.35870	N	0.002939	T	0.61236	0.2331	M	0.74881	2.28	0.09310	N	1	D;D	0.71674	0.998;0.998	P;P	0.62298	0.9;0.9	T	0.66027	-0.6025	10	0.72032	D	0.01	-10.8102	17.9076	0.88923	0.0:0.0:0.7685:0.2315	.	198;176	F5H2S5;Q9Y2M2	.;CC032_HUMAN	W	176;176;176;198	ENSP00000339150:R176W;ENSP00000324551:R176W;ENSP00000410757:R176W;ENSP00000439378:R198W	ENSP00000324551:R176W	R	-	1	2	C3orf32	8644466	0.769000	0.28531	0.000000	0.03702	0.001000	0.01503	0.143000	0.16115	-0.658000	0.05366	-0.467000	0.05162	CGG		0.662	SSUH2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337900.1	0	NM_015931		3:8669466
MOB3A	126308	broad.mit.edu	37	19	2076887	2076887	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:2076887C>T	ENST00000357066.3	-	4	926	c.547G>A	c.(547-549)Gtg>Atg	p.V183M	MOB3A_ENST00000592143.1_Intron|MOB3A_ENST00000592280.1_Missense_Mutation_p.V183M	NM_130807.2	NP_570719.1	Q96BX8	MOB3A_HUMAN	MOB kinase activator 3A	183						intracellular (GO:0005622)	metal ion binding (GO:0046872)										CAGGTGTTCACGTGGGCCTCG	0.612																																						ENST00000357066.3		NA																	0					NA						c.(547-549)Gtg>Atg		MOB kinase activator 3A							86.0	72.0	77.0					19																	2076887		2203	4300	6503	SO:0001583	missense	126308					intracellular	metal ion binding	g.chr19:2076887C>T	AK095471	CCDS12081.1	19p13.3	2011-09-28	2011-09-28	2011-09-28	ENSG00000172081	ENSG00000172081		"""MOB kinase activators"""	29802	protein-coding gene	gene with protein product	"""MOB LAK"""		"""MOB1, Mps One Binder kinase activator-like 2A (yeast)"""	MOBKL2A		12477932	Standard	NM_130807		Approved	MOB1C, MOB-LAK, moblak	uc002luv.3	Q96BX8		ENST00000357066.3:c.547G>A	19.37:g.2076887C>T	ENSP00000349575:p.Val183Met	False	False		Somatic	0				MOB3A_ENST00000592143.1_Intron|MOB3A_ENST00000592280.1_Missense_Mutation_p.V183M	p.V183M	NM_130807.2	NP_570719.1	WXS	Illumina HiSeq	Phase_I	Q96BX8	MOL2A_HUMAN			4	926	-			183					B3KTF1|O75249|Q8TF69	Missense_Mutation	SNP	ENST00000357066.3	37	c.547G>A	CCDS12081.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421174	0.83559	.	.	ENSG00000172081	ENST00000357066	.	.	.	3.74	3.74	0.42951	.	0.000000	0.85682	D	0.000000	T	0.78470	0.4288	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.82125	-0.0612	9	0.62326	D	0.03	-49.6356	14.2648	0.66110	0.0:1.0:0.0:0.0	.	183	Q96BX8	MOB3A_HUMAN	M	183	.	ENSP00000349575:V183M	V	-	1	0	MOBKL2A	2027887	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.596000	0.67570	1.937000	0.56155	0.491000	0.48974	GTG		0.612	MOB3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450893.1	0	NM_130807		19:2076887
ACKR2	1238	broad.mit.edu	37	3	42906734	42906734	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:42906734G>T	ENST00000422265.1	+	3	915	c.740G>T	c.(739-741)cGg>cTg	p.R247L	ACKR2_ENST00000273145.2_Missense_Mutation_p.R247L|ACKR2_ENST00000442925.1_Missense_Mutation_p.R247L|KRBOX1_ENST00000426937.1_Intron|RP11-141M3.5_ENST00000471537.1_RNA|CYP8B1_ENST00000437102.1_Intron	NM_001296.4	NP_001287.2	O00590	ACKR2_HUMAN	atypical chemokine receptor 2	247					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)|neutrophil activation (GO:0042119)|receptor-mediated endocytosis (GO:0006898)	actin filament (GO:0005884)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-X-C chemokine receptor activity (GO:0016494)|chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)										GGCCAGGGCCGGGCTTTAAAA	0.527																																						ENST00000422265.1		NA																	0					NA						c.(739-741)cGg>cTg		atypical chemokine receptor 2							121.0	118.0	119.0					3																	42906734		2203	4300	6503	SO:0001583	missense	1238							g.chr3:42906734G>T	U94888	CCDS2706.1	3p21.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144648	ENSG00000144648		"""GPCR / Class A : Chemokine receptors : Atypical"""	1565	protein-coding gene	gene with protein product		602648	"""chemokine binding protein 2"""	CMKBR9, CCBP2		9364936, 9405404, 16148	Standard	NM_001296		Approved	CCR10, D6, CCR9	uc003cme.3	O00590	OTTHUMG00000133040	ENST00000422265.1:c.740G>T	3.37:g.42906734G>T	ENSP00000416996:p.Arg247Leu	True	False		Somatic	0				ACKR2_ENST00000442925.1_Missense_Mutation_p.R247L|KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000273145.2_Missense_Mutation_p.R247L|RP11-141M3.5_ENST00000471537.1_RNA|CYP8B1_ENST00000437102.1_Intron	p.R247L	NM_001296.4	NP_001287.2	WXS	Illumina HiSeq	Phase_I					3	915	+			NA					B2R8Y8|O00537|Q53YA1|Q86UN9|Q96A02	Missense_Mutation	SNP	ENST00000422265.1	37	c.740G>T	CCDS2706.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.735230	0.48939	.	.	ENSG00000144648	ENST00000442925;ENST00000422265;ENST00000273145	T;T;T	0.44881	0.91;0.91;0.91	4.49	3.61	0.41365	GPCR, rhodopsin-like superfamily (1);	0.442477	0.16852	N	0.196877	T	0.59335	0.2186	M	0.88906	2.99	0.80722	D	1	D	0.60160	0.987	P	0.56398	0.797	T	0.62163	-0.6912	9	.	.	.	.	5.7864	0.18336	0.2999:0.0:0.7001:0.0	.	247	O00590	CCBP2_HUMAN	L	247	ENSP00000396150:R247L;ENSP00000416996:R247L;ENSP00000273145:R247L	.	R	+	2	0	CCBP2	42881738	0.030000	0.19436	0.997000	0.53966	0.455000	0.32408	0.934000	0.28910	1.114000	0.41781	0.563000	0.77884	CGG		0.527	ACKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256645.2	0	NM_001296		3:42906734
WDR19	57728	broad.mit.edu	37	4	39276564	39276564	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr4:39276564C>A	ENST00000399820.3	+	33	3856	c.3702C>A	c.(3700-3702)atC>atA	p.I1234I	WDR19_ENST00000288634.7_Silent_p.I1074I	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	1234					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						AAAAGAAGATCGAGGGAATGG	0.438																																						ENST00000399820.3		NA																	0				large_intestine(1)	1						c.(3700-3702)atC>atA		WD repeat domain 19							79.0	74.0	75.0					4																	39276564		1909	4115	6024	SO:0001819	synonymous_variant	57728				cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding	g.chr4:39276564C>A	AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	18340	protein-coding gene	gene with protein product	"""intraflagellar transport 144 homolog (Chlamydomonas)"""	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.3702C>A	4.37:g.39276564C>A		False	False		Somatic	0				WDR19_ENST00000288634.7_Silent_p.I1074I	p.I1234I	NM_025132.3	NP_079408.3	WXS	Illumina HiSeq	Phase_I	Q8NEZ3	WDR19_HUMAN			33	3856	+			1234					B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Silent	SNP	ENST00000399820.3	37	c.3702C>A	CCDS47042.1																																																																																				0.438	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1	0			4:39276564
AHRR	57491	broad.mit.edu	37	5	422893	422893	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:422893G>A	ENST00000505113.1	+	6	547	c.503G>A	c.(502-504)cGc>cAc	p.R168H	AHRR_ENST00000512529.1_Missense_Mutation_p.R14H|AHRR_ENST00000506456.1_Missense_Mutation_p.R24H|AHRR_ENST00000316418.5_Missense_Mutation_p.R168H	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	168	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GTGGACGACCGCCAGGACTTC	0.567																																						ENST00000316418.5		NA																	0				breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20						c.(502-504)cGc>cAc		aryl-hydrocarbon receptor repressor							65.0	74.0	71.0					5																	422893		1983	4150	6133	SO:0001583	missense	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:422893G>A	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"""Basic helix-loop-helix proteins"""	346	protein-coding gene	gene with protein product		606517	"""aryl hydrocarbon receptor regulator"""	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.503G>A	5.37:g.422893G>A	ENSP00000424601:p.Arg168His	False	False		Somatic	0				AHRR_ENST00000512529.1_Missense_Mutation_p.R14H|AHRR_ENST00000506456.1_Missense_Mutation_p.R24H|AHRR_ENST00000505113.1_Missense_Mutation_p.R168H	p.R168H	NM_020731.4	NP_065782.2	WXS	Illumina HiSeq	Phase_I	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		6	547	+			168			PAS.		A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Missense_Mutation	SNP	ENST00000505113.1	37	c.503G>A	CCDS56355.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.045895	0.93685	.	.	ENSG00000063438	ENST00000505113;ENST00000316418;ENST00000512529;ENST00000506456	T;T;T;T	0.48201	2.17;2.17;0.9;0.82	4.76	4.76	0.60689	PAS (2);PAS fold (1);	0.000000	0.85682	D	0.000000	T	0.57446	0.2054	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;0.995;0.988	D;D;D	0.91635	0.999;0.964;0.911	T	0.62520	-0.6837	10	0.87932	D	0	.	15.254	0.73571	0.0:0.0:1.0:0.0	.	24;168;168	D6RE68;A9YTQ3;A9YTQ3-2	.;AHRR_HUMAN;.	H	168;168;14;24	ENSP00000424601:R168H;ENSP00000323816:R168H;ENSP00000424880:R14H;ENSP00000426932:R24H	ENSP00000323816:R168H	R	+	2	0	AHRR	475893	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.077000	0.76814	2.164000	0.68074	0.655000	0.94253	CGC		0.567	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	0	NM_020731		5:422893
NLGN1	22871	broad.mit.edu	37	3	173998609	173998609	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:173998609G>A	ENST00000457714.1	+	7	2417	c.1988G>A	c.(1987-1989)aGt>aAt	p.S663N	NLGN1_ENST00000361589.4_Missense_Mutation_p.S663N|NLGN1_ENST00000545397.1_Missense_Mutation_p.S663N|NLGN1_ENST00000401917.3_Missense_Mutation_p.S703N	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	680					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|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)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CAACAACCAAGTCCATTTTCA	0.468																																						ENST00000457714.1		NA																	0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(1987-1989)aGt>aAt		neuroligin 1							108.0	110.0	109.0					3																	173998609		2203	4300	6503	SO:0001583	missense	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173998609G>A	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1988G>A	3.37:g.173998609G>A	ENSP00000392500:p.Ser663Asn	False	False		Somatic	0				NLGN1_ENST00000361589.4_Missense_Mutation_p.S663N|NLGN1_ENST00000545397.1_Missense_Mutation_p.S663N|NLGN1_ENST00000401917.3_Missense_Mutation_p.S703N	p.S663N	NM_014932.2	NP_055747.1	WXS	Illumina HiSeq	Phase_I	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		7	2417	+	Ovarian(172;0.0025)		680					Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.1988G>A	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	G	9.582	1.123955	0.20959	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.50803	0.1637	N	0.24115	0.695	0.44694	D	0.997688	B	0.06786	0.001	B	0.06405	0.002	T	0.39482	-0.9612	10	0.21014	T	0.42	.	19.9651	0.97262	0.0:0.0:1.0:0.0	.	663	Q8N2Q7-2	.	N	663;663;663;703	ENSP00000392500:S663N;ENSP00000354541:S663N;ENSP00000441108:S663N;ENSP00000385750:S703N	ENSP00000354541:S663N	S	+	2	0	NLGN1	175481303	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.166000	0.64965	2.793000	0.96121	0.655000	0.94253	AGT		0.468	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	0	NM_014932		3:173998609
