#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
PRKCZ	5590	broad.mit.edu	37	1	2077537	2077537	+	Missense_Mutation	SNP	G	G	C	rs143367104		TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr1:2077537G>C	ENST00000400921.2	+	4	758	c.75G>C	c.(73-75)gaG>gaC	p.E25D	RP5-892K4.1_ENST00000606533.1_RNA|PRKCZ_ENST00000479263.1_3'UTR|PRKCZ_ENST00000400920.1_Missense_Mutation_p.E25D	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta	208	OPR.				actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496)	apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)	Tamoxifen(DB00675)	CTTCCGAGGAGACAGATGGAA	0.582																																						uc001aiq.2		NaN																	0				central_nervous_system(4)|large_intestine(2)	6						c.(622-624)GAG>GAC		protein kinase C, zeta isoform 1							93.0	69.0	77.0					1																	2077537		2203	4300	6503	SO:0001583	missense	5590				anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding	g.chr1:2077537G>C	BC014270	CCDS37.1, CCDS41229.1, CCDS55563.1	1p36.33-p36.2	2009-07-10			ENSG00000067606	ENSG00000067606	2.7.11.1		9412	protein-coding gene	gene with protein product		176982					Standard	NM_001242874		Approved	PKC2	uc001aiq.3	Q05513	OTTHUMG00000001238	ENST00000400921.2:c.75G>C	1.37:g.2077537G>C	ENSP00000383712:p.Glu25Asp					PRKCZ_uc001air.2_Missense_Mutation_p.E25D|PRKCZ_uc010nyw.1_Missense_Mutation_p.E104D|PRKCZ_uc001ais.2_Missense_Mutation_p.E25D|PRKCZ_uc009vla.2_Missense_Mutation_p.E32D|PRKCZ_uc010nyx.1_RNA|PRKCZ_uc009vlb.2_Missense_Mutation_p.E21D	p.E208D	NM_002744	NP_002735	Q05513	KPCZ_HUMAN		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)	7	785	+	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	208					A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4	Missense_Mutation	SNP	ENST00000400921.2	37	c.624G>C	CCDS41229.1	.	.	.	.	.	.	.	.	.	.	G	7.386	0.629771	0.14257	.	.	ENSG00000067606	ENST00000378567;ENST00000468310;ENST00000400921;ENST00000461106;ENST00000470596;ENST00000496325;ENST00000482686;ENST00000400920;ENST00000486681;ENST00000470986;ENST00000470511;ENST00000471018;ENST00000466352;ENST00000497183	T;D;T;T;T;T;T;T;T	0.88201	-0.34;-2.35;-0.22;-0.38;1.61;-0.22;0.3;0.96;0.98	5.04	-3.11	0.05299	.	0.173900	0.49305	N	0.000157	T	0.67382	0.2887	N	0.08118	0	0.34923	D	0.748616	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.52697	-0.8541	10	0.12103	T	0.63	.	3.9268	0.09267	0.2421:0.5073:0.1316:0.119	.	104;32;208	E9PCW2;B3KUN5;Q05513	.;.;KPCZ_HUMAN	D	208;178;25;104;25;25;25;25;21;25;25;25;25;21	ENSP00000367830:E208D;ENSP00000424945:E178D;ENSP00000383712:E25D;ENSP00000426412:E104D;ENSP00000424228:E25D;ENSP00000383711:E25D;ENSP00000424763:E21D;ENSP00000421219:E25D;ENSP00000422764:E21D	ENSP00000367830:E208D	E	+	3	2	PRKCZ	2067397	0.949000	0.32298	0.796000	0.32109	0.915000	0.54546	0.390000	0.20768	-0.141000	0.11374	0.462000	0.41574	GAG		0.582	PRKCZ-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000098533.3		NM_002744		3	51	0	0	0	6.4e-05	0	3	51		
DFFA	1676	broad.mit.edu	37	1	10527261	10527261	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr1:10527261C>T	ENST00000377038.3	-	3	494	c.427G>A	c.(427-429)Gag>Aag	p.E143K	DFFA_ENST00000377036.2_Missense_Mutation_p.E143K	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha polypeptide	143					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|negative regulation of apoptotic DNA fragmentation (GO:1902511)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of apoptotic process (GO:0043065)|thymocyte apoptotic process (GO:0070242)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.E143Q(2)		large_intestine(3)|lung(2)	5	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		AGGTCCTCCTCTGATAGGAGG	0.532																																						uc001arj.2		NaN																	2	Substitution - Missense(2)		lung(2)		0						c.(427-429)GAG>AAG		DNA fragmentation factor, 45kDa, alpha							142.0	135.0	137.0					1																	10527261		2203	4300	6503	SO:0001583	missense	1676				DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis	cytosol|mitochondrion|nucleoplasm|plasma membrane	deoxyribonuclease activity|identical protein binding	g.chr1:10527261C>T	AF087573	CCDS118.1, CCDS119.1	1p36.3-p36.2	2008-07-18	2002-08-29		ENSG00000160049	ENSG00000160049			2772	protein-coding gene	gene with protein product	"""DNA fragmentation factor, 45 kD, alpha subunit"""	601882	"""DNA fragmentation factor, 45 kD, alpha polypeptide"""			9605855, 9108473	Standard	NM_004401		Approved	DFF-45, DFF45, ICAD, DFF1	uc001arj.3	O00273	OTTHUMG00000001909	ENST00000377038.3:c.427G>A	1.37:g.10527261C>T	ENSP00000366237:p.Glu143Lys					DFFA_uc001ark.2_Missense_Mutation_p.E143K	p.E143K	NM_004401	NP_004392	O00273	DFFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)	3	525	-	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	143					Q5T6G5|Q5T6G6|Q96I97|Q9Y6C6	Missense_Mutation	SNP	ENST00000377038.3	37	c.427G>A	CCDS118.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.636116	0.29068	.	.	ENSG00000160049	ENST00000377038;ENST00000377036	.	.	.	5.68	4.77	0.60923	DNA fragmentation factor 45kDa, C-terminal (2);	0.045744	0.85682	D	0.000000	T	0.75910	0.3914	M	0.70275	2.135	0.54753	D	0.999988	B;D	0.63046	0.102;0.992	B;D	0.63597	0.079;0.916	T	0.78175	-0.2306	9	0.54805	T	0.06	-17.2621	14.6101	0.68510	0.0:0.93:0.0:0.07	.	143;143	O00273-2;O00273	.;DFFA_HUMAN	K	143	.	ENSP00000366235:E143K	E	-	1	0	DFFA	10449848	0.999000	0.42202	0.912000	0.35992	0.009000	0.06853	4.546000	0.60705	1.417000	0.47077	-0.142000	0.14014	GAG		0.532	DFFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005418.1		NM_004401		19	114	0	0	0	0.000175454	0	19	114		
EPB41	2035	broad.mit.edu	37	1	29379626	29379626	+	Silent	SNP	C	C	A	rs145888614	byFrequency	TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr1:29379626C>A	ENST00000343067.4	+	12	1774	c.1647C>A	c.(1645-1647)gtC>gtA	p.V549V	EPB41_ENST00000398863.2_Silent_p.V549V|EPB41_ENST00000356093.2_Silent_p.V549V|EPB41_ENST00000349460.4_Silent_p.V340V|EPB41_ENST00000347529.3_Silent_p.V514V|EPB41_ENST00000373798.1_Silent_p.V549V|EPB41_ENST00000373797.1_Silent_p.V549V|EPB41_ENST00000373800.3_Silent_p.V340V	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	549	Hydrophilic.				actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.V340V(1)|p.V549V(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		CAGCAGCTGTCGATTCGGCAG	0.483																																						uc001brm.1		NaN																	2	Substitution - coding silent(2)		large_intestine(2)	ovary(1)	1						c.(1645-1647)GTC>GTA		erythrocyte membrane protein band 4.1							40.0	43.0	42.0					1																	29379626		2203	4300	6503	SO:0001819	synonymous_variant	2035				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton	g.chr1:29379626C>A	BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"""elliptocytosis 1, RH-linked"""	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.1647C>A	1.37:g.29379626C>A						EPB41_uc001brg.1_Silent_p.V340V|EPB41_uc001brh.1_Silent_p.V340V|EPB41_uc001bri.1_Silent_p.V514V|EPB41_uc001brj.1_Silent_p.V340V|EPB41_uc009vtk.1_Silent_p.V513V|EPB41_uc001brk.2_Silent_p.V549V|EPB41_uc001brl.1_Silent_p.V549V|EPB41_uc009vtl.1_Silent_p.V340V|EPB41_uc009vtm.1_Silent_p.V182V	p.V549V	NM_203342	NP_976217	P11171	41_HUMAN		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)	11	1654	+		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)	549			Hydrophilic.		B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Silent	SNP	ENST00000343067.4	37	c.1647C>A	CCDS53288.1																																																																																				0.483	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010312.1		NM_203342		10	32	1	0	5.50884e-06	0.00010058	6.41337e-05	10	32		
S100PBP	64766	broad.mit.edu	37	1	33292110	33292110	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr1:33292110C>G	ENST00000373475.5	+	3	664	c.410C>G	c.(409-411)tCt>tGt	p.S137C	S100PBP_ENST00000398243.3_Missense_Mutation_p.S137C|S100PBP_ENST00000356689.3_3'UTR|S100PBP_ENST00000373476.1_Missense_Mutation_p.S137C	NM_022753.3	NP_073590.2			S100P binding protein											endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				AACAGACGCTCTGTACTAGAA	0.418																																						uc001bvz.2		NaN																	0					0						c.(409-411)TCT>TGT		S100P binding protein isoform a							56.0	57.0	57.0					1																	33292110		2203	4300	6503	SO:0001583	missense	64766					nucleus	calcium-dependent protein binding	g.chr1:33292110C>G	BX647916	CCDS30666.1	1p35.1	2008-02-05			ENSG00000116497	ENSG00000116497			25768	protein-coding gene	gene with protein product	"""S100P binding protein 1"""	611889				12477932	Standard	NM_022753		Approved	FLJ12903, S100PBPR	uc001bwc.4	Q96BU1	OTTHUMG00000003955	ENST00000373475.5:c.410C>G	1.37:g.33292110C>G	ENSP00000362574:p.Ser137Cys					S100PBP_uc001bwa.1_Missense_Mutation_p.S137C|S100PBP_uc001bwb.1_Missense_Mutation_p.S137C|S100PBP_uc001bwc.2_Missense_Mutation_p.S137C|S100PBP_uc001bwd.2_RNA	p.S137C	NM_022753	NP_073590	Q96BU1	S1PBP_HUMAN			3	687	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	137						Missense_Mutation	SNP	ENST00000373475.5	37	c.410C>G	CCDS30666.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.401359	0.25291	.	.	ENSG00000116497	ENST00000373476;ENST00000373475;ENST00000531123;ENST00000398243;ENST00000356689;ENST00000531256;ENST00000482212	.	.	.	5.85	2.35	0.29111	.	0.296438	0.33670	N	0.004661	T	0.21062	0.0507	N	0.14661	0.345	0.09310	N	0.999999	D;D	0.54964	0.969;0.969	P;B	0.50192	0.634;0.443	T	0.08066	-1.0740	8	.	.	.	-2.5663	6.6265	0.22833	0.0:0.3057:0.0:0.6943	.	137;137	A8MTZ6;Q96BU1	.;S1PBP_HUMAN	C	137	.	.	S	+	2	0	S100PBP	33064697	0.988000	0.35896	0.432000	0.26747	0.605000	0.37080	1.274000	0.33132	0.229000	0.21039	0.655000	0.94253	TCT		0.418	S100PBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011266.1		NM_022753		5	31	0	0	0	8.12818e-05	0	5	31		
ERI3	79033	broad.mit.edu	37	1	44804820	44804820	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr1:44804820C>T	ENST00000372257.2	-	3	567	c.386G>A	c.(385-387)gGc>gAc	p.G129D	ERI3_ENST00000495828.1_5'UTR|ERI3_ENST00000537474.1_Intron	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN	ERI1 exoribonuclease family member 3	129							exonuclease activity (GO:0004527)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CATGGATGCGCCAAAGCCGTG	0.542																																						uc001clt.2		NaN																	0				ovary(2)|large_intestine(1)	3						c.(385-387)GGC>GAC		prion protein interacting protein							130.0	140.0	136.0					1																	44804820		2203	4300	6503	SO:0001583	missense	79033					intracellular	exonuclease activity|metal ion binding|nucleic acid binding	g.chr1:44804820C>T	AF007157	CCDS30696.1	1p34.1	2009-10-07	2009-10-07	2008-12-16	ENSG00000117419	ENSG00000117419		"""Enhanced RNAi three prime mRNA exonucleases"""	17276	protein-coding gene	gene with protein product	"""enhanced RNAi three prime mRNA exonuclease homolog 3 (C.elegans)"", ""exoribonuclease 3"""	609917	"""prion protein interacting protein"""	PRNPIP			Standard	XM_005271184		Approved	FLJ22943, PINT1	uc001clt.3	O43414	OTTHUMG00000007637	ENST00000372257.2:c.386G>A	1.37:g.44804820C>T	ENSP00000361331:p.Gly129Asp					ERI3_uc010okv.1_Intron|ERI3_uc009vxg.2_Missense_Mutation_p.G129D|ERI3_uc010okw.1_Missense_Mutation_p.G51D|ERI3_uc001clu.2_Missense_Mutation_p.G51D	p.G129D	NM_024066	NP_076971	O43414	ERI3_HUMAN			3	627	-			129					B1AK98|Q5T2T7|Q5T2T9|Q5TG35|Q9BQA0|Q9UEB4	Missense_Mutation	SNP	ENST00000372257.2	37	c.386G>A	CCDS30696.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.548470	0.86127	.	.	ENSG00000117419	ENST00000372257;ENST00000457571	.	.	.	6.07	6.07	0.98685	.	0.070979	0.64402	D	0.000019	T	0.63792	0.2541	N	0.24115	0.695	0.80722	D	1	D;P;P	0.89917	1.0;0.895;0.92	D;B;B	0.91635	0.999;0.264;0.26	T	0.54443	-0.8293	9	0.11794	T	0.64	.	19.6321	0.95713	0.0:1.0:0.0:0.0	.	127;51;129	F6UGJ8;B4DN03;O43414	.;.;ERI3_HUMAN	D	129;127	.	ENSP00000361331:G129D	G	-	2	0	ERI3	44577407	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.872000	0.63050	2.884000	0.98904	0.655000	0.94253	GGC		0.542	ERI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020243.1		NM_024066		15	187	0	0	0	0.000308642	0	15	187		
GBP5	115362	broad.mit.edu	37	1	89729593	89729593	+	Silent	SNP	C	C	T	rs267598755		TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr1:89729593C>T	ENST00000370459.3	-	8	1315	c.1188G>A	c.(1186-1188)cgG>cgA	p.R396R	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000343435.5_Silent_p.R396R|GBP5_ENST00000471171.1_5'Flank			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	396						cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		CTTCCAGGTTCCGTTTACAAA	0.383																																						uc001dnc.2		NaN																	0				ovary(1)	1						c.(1186-1188)CGG>CGA		guanylate-binding protein 5							150.0	155.0	153.0					1																	89729593		2203	4300	6503	SO:0001819	synonymous_variant	115362					plasma membrane	GTP binding|GTPase activity	g.chr1:89729593C>T	AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.1188G>A	1.37:g.89729593C>T						GBP5_uc001dnd.2_Silent_p.R396R|GBP5_uc001dne.1_Silent_p.R396R	p.R396R	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN		all cancers(265;0.00784)|Epithelial(280;0.0286)	9	1725	-			396					B2RCE1|Q86TM5	Silent	SNP	ENST00000370459.3	37	c.1188G>A	CCDS722.1																																																																																				0.383	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027700.1		NM_052942		15	122	0	0	0	0.000308642	0	15	122		
S1PR1	1901	broad.mit.edu	37	1	101705363	101705363	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr1:101705363C>G	ENST00000305352.6	+	2	1198	c.823C>G	c.(823-825)Ctg>Gtg	p.L275V		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	275					actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						GCTCTTCATCCTGCTCCTGCT	0.582																																						uc001dud.2		NaN																	0				ovary(2)|lung(1)	3						c.(823-825)CTG>GTG		sphingosine-1-phosphate receptor 1							152.0	153.0	152.0					1																	101705363		2203	4300	6503	SO:0001583	missense	1901				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr1:101705363C>G	M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"", ""CD molecules"""	3165	protein-coding gene	gene with protein product		601974	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"""	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.823C>G	1.37:g.101705363C>G	ENSP00000305416:p.Leu275Val					S1PR1_uc009weg.2_Missense_Mutation_p.L275V	p.L275V	NM_001400	NP_001391	P21453	S1PR1_HUMAN			2	1337	+			275			Helical; Name=6; (By similarity).		D3DT66|Q9BYY4|Q9NYN8	Missense_Mutation	SNP	ENST00000305352.6	37	c.823C>G	CCDS777.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.049649	0.55218	.	.	ENSG00000170989	ENST00000305352;ENST00000424264	T	0.71698	-0.59	5.13	2.19	0.27852	GPCR, rhodopsin-like superfamily (1);	0.069285	0.64402	D	0.000014	T	0.61986	0.2391	L	0.43598	1.365	0.53688	D	0.999973	P	0.45986	0.87	P	0.55508	0.777	T	0.65034	-0.6266	10	0.72032	D	0.01	.	8.7489	0.34602	0.0:0.7013:0.0:0.2987	.	275	P21453	S1PR1_HUMAN	V	275	ENSP00000305416:L275V	ENSP00000305416:L275V	L	+	1	2	S1PR1	101477951	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.208000	0.51114	0.552000	0.29026	0.305000	0.20034	CTG		0.582	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029908.1		NM_001400		38	244	0	0	0	0.000319135	0	38	244		
CTTNBP2NL	55917	broad.mit.edu	37	1	112998771	112998771	+	Silent	SNP	A	A	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr1:112998771A>G	ENST00000271277.6	+	6	882	c.657A>G	c.(655-657)gaA>gaG	p.E219E		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	219					negative regulation of transmembrane transport (GO:0034763)|negative regulation of transporter activity (GO:0032410)|protein dephosphorylation (GO:0006470)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AACTGGAAGAAGAGTTGGCAG	0.512																																						uc001ebx.2		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(655-657)GAA>GAG		CTTNBP2 N-terminal like							81.0	90.0	87.0					1																	112998771		2203	4300	6503	SO:0001819	synonymous_variant	55917					actin cytoskeleton	protein binding	g.chr1:112998771A>G	AB037854	CCDS845.1	1p13.2	2008-02-05			ENSG00000143079	ENSG00000143079			25330	protein-coding gene	gene with protein product		615100				10718198	Standard	NM_018704		Approved	DKFZp547A023	uc001ebx.3	Q9P2B4	OTTHUMG00000011154	ENST00000271277.6:c.657A>G	1.37:g.112998771A>G						CTTNBP2NL_uc001ebz.2_5'Flank	p.E219E	NM_018704	NP_061174	Q9P2B4	CT2NL_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	885	+		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)	219			Potential.		B3KMS5|Q96B40	Silent	SNP	ENST00000271277.6	37	c.657A>G	CCDS845.1																																																																																				0.512	CTTNBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030686.1		NM_018704		9	59	0	0	0	0.000442599	0	9	59		
PDE4DIP	9659	broad.mit.edu	37	1	144859924	144859924	+	Silent	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr1:144859924G>A	ENST00000369354.3	-	38	6349	c.6160C>T	c.(6160-6162)Ctg>Ttg	p.L2054L	RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369356.4_Silent_p.L2054L|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Silent_p.L1948L|PDE4DIP_ENST00000369359.4_Silent_p.L2190L|PDE4DIP_ENST00000530740.1_Silent_p.L2139L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2054					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGCCCTCTCAGAGCTCGTACC	0.577			T	PDGFRB	MPD																																	uc001elw.3		NaN		Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(6160-6162)CTG>TTG		phosphodiesterase 4D interacting protein isoform							89.0	84.0	85.0					1																	144859924		2203	4298	6501	SO:0001819	synonymous_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144859924G>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6160C>T	1.37:g.144859924G>A						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Silent_p.L1948L|PDE4DIP_uc001elv.3_Silent_p.L1061L	p.L2054L	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	38	6451	-			2054			Potential.		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	c.6160C>T	CCDS30824.1																																																																																				0.577	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2		NM_022359		9	100	0	0	0	0.000274275	0	9	100		
FLG	2312	broad.mit.edu	37	1	152284039	152284039	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr1:152284039C>T	ENST00000368799.1	-	3	3358	c.3323G>A	c.(3322-3324)gGg>gAg	p.G1108E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1108	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACCTTCCCCCTGACCAGTC	0.582									Ichthyosis																													uc001ezu.1		NaN																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(3322-3324)GGG>GAG		filaggrin							284.0	306.0	298.0					1																	152284039		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152284039C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3323G>A	1.37:g.152284039C>T	ENSP00000357789:p.Gly1108Glu					uc001ezv.2_5'Flank	p.G1108E	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3359	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1108			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.3323G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	5.288	0.238621	0.10023	.	.	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.00682	5.86	2.48	1.54	0.23209	.	.	.	.	.	T	0.00524	0.0017	M	0.66939	2.045	0.09310	N	1	D	0.56287	0.975	P	0.55011	0.766	T	0.28364	-1.0046	9	0.02654	T	1	.	5.2279	0.15406	0.0:0.824:0.0:0.176	.	1108	P20930	FILA_HUMAN	E	1108;315	ENSP00000357789:G1108E	ENSP00000357789:G1108E	G	-	2	0	FLG	150550663	0.001000	0.12720	0.000000	0.03702	0.067000	0.16453	0.223000	0.17719	0.393000	0.25203	0.299000	0.19835	GGG		0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1		NM_002016		57	258	0	0	0	0.000781405	0	57	258		
CRTC2	200186	broad.mit.edu	37	1	153921053	153921053	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr1:153921053C>G	ENST00000368633.1	-	13	1869	c.1742G>C	c.(1741-1743)gGg>gCg	p.G581A	CRTC2_ENST00000368630.3_Missense_Mutation_p.G261A|DENND4B_ENST00000361217.4_5'Flank	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	581					gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|histone H3-K9 acetylation (GO:0043970)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AAATCCAGGCCCTTCAGAAAA	0.567																																						uc010ped.1		NaN																	0				ovary(2)	2						c.(1741-1743)GGG>GCG		CREB regulated transcription coactivator 2							69.0	74.0	72.0					1																	153921053		2203	4300	6503	SO:0001583	missense	200186				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	g.chr1:153921053C>G	AY360172	CCDS30875.1	1q21.3	2008-02-05			ENSG00000160741	ENSG00000160741			27301	protein-coding gene	gene with protein product		608972				14506290, 14536081	Standard	NM_181715		Approved	TORC2	uc021pab.1	Q53ET0	OTTHUMG00000037156	ENST00000368633.1:c.1742G>C	1.37:g.153921053C>G	ENSP00000357622:p.Gly581Ala					DENND4B_uc001fdd.1_5'Flank|CRTC2_uc001fde.3_RNA|CRTC2_uc001fdf.3_Missense_Mutation_p.G117A	p.G581A	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		13	1812	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		581					Q6UUV8|Q7Z3X7|Q8N332	Missense_Mutation	SNP	ENST00000368633.1	37	c.1742G>C	CCDS30875.1	.	.	.	.	.	.	.	.	.	.	C	8.597	0.885983	0.17540	.	.	ENSG00000160741	ENST00000368630;ENST00000368633	T;T	0.41400	1.0;2.82	4.85	4.85	0.62838	.	0.297764	0.30311	N	0.009903	T	0.28499	0.0705	L	0.29908	0.895	0.36659	D	0.877835	D;D	0.76494	0.998;0.999	D;D	0.83275	0.923;0.996	T	0.31336	-0.9947	10	0.02654	T	1	-10.8367	8.9728	0.35917	0.0:0.9013:0.0:0.0987	.	581;261	Q53ET0;Q5T4K5	CRTC2_HUMAN;.	A	261;581	ENSP00000357619:G261A;ENSP00000357622:G581A	ENSP00000357619:G261A	G	-	2	0	CRTC2	152187677	0.992000	0.36948	0.999000	0.59377	0.977000	0.68977	1.215000	0.32431	2.528000	0.85240	0.448000	0.29417	GGG		0.567	CRTC2-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090272.3		NM_181715		8	109	0	0	0	0.000274275	0	8	109		
CRTC2	200186	broad.mit.edu	37	1	153921067	153921067	+	Silent	SNP	A	A	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr1:153921067A>G	ENST00000368633.1	-	13	1855	c.1728T>C	c.(1726-1728)ccT>ccC	p.P576P	CRTC2_ENST00000368630.3_Silent_p.P256P|DENND4B_ENST00000361217.4_5'Flank	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	576					gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|histone H3-K9 acetylation (GO:0043970)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGAAAAGCCAGGGGGATCCA	0.542																																						uc010ped.1		NaN																	0				ovary(2)	2						c.(1726-1728)CCT>CCC		CREB regulated transcription coactivator 2							66.0	71.0	69.0					1																	153921067		2203	4300	6503	SO:0001819	synonymous_variant	200186				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	g.chr1:153921067A>G	AY360172	CCDS30875.1	1q21.3	2008-02-05			ENSG00000160741	ENSG00000160741			27301	protein-coding gene	gene with protein product		608972				14506290, 14536081	Standard	NM_181715		Approved	TORC2	uc021pab.1	Q53ET0	OTTHUMG00000037156	ENST00000368633.1:c.1728T>C	1.37:g.153921067A>G						DENND4B_uc001fdd.1_5'Flank|CRTC2_uc001fde.3_RNA|CRTC2_uc001fdf.3_Silent_p.P112P	p.P576P	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		13	1798	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		576					Q6UUV8|Q7Z3X7|Q8N332	Silent	SNP	ENST00000368633.1	37	c.1728T>C	CCDS30875.1																																																																																				0.542	CRTC2-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090272.3		NM_181715		10	108	0	0	0	0.000673444	0	10	108		
GON4L	54856	broad.mit.edu	37	1	155721969	155721969	+	Silent	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr1:155721969C>T	ENST00000368331.1	-	30	6303	c.6255G>A	c.(6253-6255)gtG>gtA	p.V2085V	GON4L_ENST00000437809.1_Silent_p.V2084V|GON4L_ENST00000271883.5_Silent_p.V2084V	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	2085					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTCTTGTCTTCACCCGAGCTC	0.527																																						uc001flz.2		NaN																	0				ovary(3)	3						c.(6253-6255)GTG>GTA		gon-4-like isoform a							83.0	81.0	82.0					1																	155721969		1927	4122	6049	SO:0001819	synonymous_variant	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155721969C>T	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.6255G>A	1.37:g.155721969C>T						GON4L_uc001flx.1_5'Flank|GON4L_uc009wrg.1_RNA|GON4L_uc001fly.1_Silent_p.V2084V|GON4L_uc009wrh.1_Silent_p.V2084V|GON4L_uc001fma.1_Silent_p.V2085V	p.V2085V	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN			30	6352	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		2085					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Silent	SNP	ENST00000368331.1	37	c.6255G>A																																																																																					0.527	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_032292		16	141	0	0	0	0.000308642	0	16	141		
LAMB3	3914	broad.mit.edu	37	1	209799289	209799289	+	Silent	SNP	G	G	C	rs376183751		TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr1:209799289G>C	ENST00000356082.4	-	14	1814	c.1680C>G	c.(1678-1680)acC>acG	p.T560T	LAMB3_ENST00000367030.3_Silent_p.T560T|LAMB3_ENST00000391911.1_Silent_p.T560T|MIR4260_ENST00000583107.1_RNA	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	560	Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		AGCGGGGCCCGGTCAAGCCAG	0.647																																						uc001hhg.2		NaN																	0				central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6						c.(1678-1680)ACC>ACG		laminin, beta 3 precursor							25.0	28.0	27.0					1																	209799289		2203	4298	6501	SO:0001819	synonymous_variant	3914				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	g.chr1:209799289G>C	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.1680C>G	1.37:g.209799289G>C						LAMB3_uc009xco.2_Silent_p.T560T|LAMB3_uc001hhh.2_Silent_p.T560T|LAMB3_uc010psl.1_Intron|hsa-mir-4260|MI0015859_5'Flank	p.T560T	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	13	2070	-			560			Laminin EGF-like 6.		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Silent	SNP	ENST00000356082.4	37	c.1680C>G	CCDS1487.1																																																																																				0.647	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2		NM_000228		5	57	0	0	0	0.000602214	0	5	57		
SPATA17	128153	broad.mit.edu	37	1	217915425	217915425	+	Silent	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr1:217915425C>T	ENST00000366933.4	+	6	559	c.504C>T	c.(502-504)ctC>ctT	p.L168L		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	168						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		TGCATTACCTCCTCAGCACAA	0.473																																						uc001hlh.1		NaN																	0				pancreas(1)	1						c.(502-504)CTC>CTT		spermatogenesis associated 17							179.0	169.0	173.0					1																	217915425		2203	4300	6503	SO:0001819	synonymous_variant	128153					cytoplasm	calmodulin binding	g.chr1:217915425C>T	AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814			25184	protein-coding gene	gene with protein product	"""IQ motif containing H"""	611032				16395525	Standard	NM_138796		Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.504C>T	1.37:g.217915425C>T						SPATA17_uc009xdr.1_RNA|SPATA17_uc001hli.2_Silent_p.L168L	p.L168L	NM_138796	NP_620151	Q96L03	SPT17_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)	6	530	+			168					A5D6N2	Silent	SNP	ENST00000366933.4	37	c.504C>T	CCDS1519.1																																																																																				0.473	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092433.2		NM_138796		7	85	0	0	0	8.12818e-05	0	7	85		
CDC42BPA	8476	broad.mit.edu	37	1	227316871	227316871	+	Silent	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr1:227316871G>A	ENST00000366769.3	-	11	2743	c.1452C>T	c.(1450-1452)agC>agT	p.S484S	CDC42BPA_ENST00000535525.1_Silent_p.S484S|CDC42BPA_ENST00000366766.2_Silent_p.S484S|CDC42BPA_ENST00000366765.3_Silent_p.S484S|CDC42BPA_ENST00000366767.3_Silent_p.S484S|CDC42BPA_ENST00000366764.2_Silent_p.S484S|CDC42BPA_ENST00000334218.5_Silent_p.S484S	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				CTAAATCTTTGCTTGCTGTTA	0.289																																						uc001hqr.2		NaN																	0				lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11						c.(1450-1452)AGC>AGT		CDC42-binding protein kinase alpha isoform B							51.0	50.0	50.0					1																	227316871		2202	4299	6501	SO:0001819	synonymous_variant	8476				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr1:227316871G>A	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.1452C>T	1.37:g.227316871G>A						CDC42BPA_uc001hqs.2_Silent_p.S484S|CDC42BPA_uc009xes.2_Silent_p.S484S|CDC42BPA_uc010pvs.1_Silent_p.S484S	p.S484S	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN			11	2395	-		all_cancers(173;0.156)|Prostate(94;0.0792)	484			Potential.			Silent	SNP	ENST00000366769.3	37	c.1452C>T	CCDS1558.1																																																																																				0.289	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1		NM_014826		7	62	0	0	0	0.000157383	0	7	62		
PLD5	200150	broad.mit.edu	37	1	242253336	242253336	+	Silent	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr1:242253336C>T	ENST00000536534.2	-	10	1672	c.1431G>A	c.(1429-1431)agG>agA	p.R477R	PLD5_ENST00000427495.1_Silent_p.R415R|PLD5_ENST00000442594.2_Silent_p.R385R			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	477						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TTCTGTTGTTCCTCACATCTG	0.423																																						uc001hzn.1		NaN																	0				ovary(6)	6						c.(1429-1431)AGG>AGA		RecName: Full=Inactive phospholipase D5;          Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc;							190.0	174.0	179.0					1																	242253336		2203	4300	6503	SO:0001819	synonymous_variant	200150					integral to membrane	catalytic activity	g.chr1:242253336C>T	AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.1431G>A	1.37:g.242253336C>T						PLD5_uc001hzl.3_Silent_p.R415R|PLD5_uc001hzm.3_Silent_p.R267R|PLD5_uc001hzo.1_Silent_p.R385R	p.R477R			Q8N7P1	PLD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0329)		10	1558	-	Melanoma(84;0.242)		477					A1KXV0|B7Z324|Q494U9|Q8NB22	Silent	SNP	ENST00000536534.2	37	c.1431G>A	CCDS1621.2																																																																																				0.423	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2		NM_152666		6	98	0	0	0	8.12818e-05	0	6	98		
OR2M2	391194	broad.mit.edu	37	1	248344190	248344190	+	Silent	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr1:248344190C>T	ENST00000359682.2	+	1	903	c.903C>T	c.(901-903)ttC>ttT	p.F301F		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	301						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)			CTAGAGCATTCATGAAGATCT	0.423																																						uc010pzf.1		NaN																	0				ovary(3)|skin(1)	4						c.(901-903)TTC>TTT		olfactory receptor, family 2, subfamily M,							216.0	209.0	211.0					1																	248344190		2203	4300	6503	SO:0001819	synonymous_variant	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248344190C>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.903C>T	1.37:g.248344190C>T							p.F301F	NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	903	+	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)		301			Cytoplasmic (Potential).		A3KFT4	Silent	SNP	ENST00000359682.2	37	c.903C>T	CCDS31106.1																																																																																				0.423	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2		NM_001004688		21	105	0	0	0	0.000175454	0	21	105		
FAM171A1	221061	broad.mit.edu	37	10	15255261	15255261	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr10:15255261C>T	ENST00000378116.4	-	8	2332	c.2326G>A	c.(2326-2328)Gag>Aag	p.E776K	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	776						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GCTCGAGGCTCTTTCTGCTGG	0.577																																						uc001iob.2		NaN																	0				ovary(2)|breast(1)|skin(1)	4						c.(2326-2328)GAG>AAG		hypothetical protein LOC221061 precursor							89.0	62.0	71.0					10																	15255261		2203	4300	6503	SO:0001583	missense	221061					integral to membrane		g.chr10:15255261C>T	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.2326G>A	10.37:g.15255261C>T	ENSP00000367356:p.Glu776Lys						p.E776K	NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN			8	2333	-			776			Cytoplasmic (Potential).		D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	ENST00000378116.4	37	c.2326G>A	CCDS31154.1	.	.	.	.	.	.	.	.	.	.	C	2.239	-0.374201	0.05034	.	.	ENSG00000148468	ENST00000378116;ENST00000396781	T	0.30448	1.53	5.25	4.33	0.51752	.	0.317898	0.30704	N	0.009051	T	0.11410	0.0278	N	0.02539	-0.55	0.23806	N	0.996796	B	0.02656	0.0	B	0.06405	0.002	T	0.21586	-1.0241	10	0.16896	T	0.51	-23.3662	9.9219	0.41470	0.0:0.7886:0.1377:0.0737	.	776	Q5VUB5	F1711_HUMAN	K	776;775	ENSP00000367356:E776K	ENSP00000367356:E776K	E	-	1	0	FAM171A1	15295267	0.999000	0.42202	0.088000	0.20740	0.093000	0.18481	2.562000	0.45914	2.724000	0.93272	0.563000	0.77884	GAG		0.577	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1		XM_167709		13	64	0	0	0	0.000308642	0	13	64		
SKIDA1	387640	broad.mit.edu	37	10	21805233	21805233	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr10:21805233C>T	ENST00000449193.2	-	4	3771	c.1519G>A	c.(1519-1521)Gac>Aac	p.D507N	SKIDA1_ENST00000444772.3_Missense_Mutation_p.D428N	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	426						nucleus (GO:0005634)											CTCTTGAGGTCGGGAAGTCTG	0.652																																						uc009xkd.2		NaN																	0				ovary(1)	1						c.(1519-1521)GAC>AAC		hypothetical protein LOC387640							40.0	44.0	43.0					10																	21805233		1932	4145	6077	SO:0001583	missense	387640					nucleus	nucleotide binding	g.chr10:21805233C>T	AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 140"""	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.1519G>A	10.37:g.21805233C>T	ENSP00000410041:p.Asp507Asn					uc001iqp.1_RNA	p.D507N	NM_207371	NP_997254	Q1XH10	DLN1_HUMAN			4	3772	-			426					B1ANA5|Q6ZMX4|Q8N3C3	Missense_Mutation	SNP	ENST00000449193.2	37	c.1519G>A	CCDS44363.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.004982	0.74932	.	.	ENSG00000180592	ENST00000449193;ENST00000444772	.	.	.	5.73	5.73	0.89815	.	0.402325	0.24925	N	0.034503	T	0.43678	0.1258	N	0.24115	0.695	0.40237	D	0.977912	D	0.52996	0.957	B	0.41440	0.357	T	0.51164	-0.8740	9	0.66056	D	0.02	-4.6807	18.4673	0.90760	0.0:1.0:0.0:0.0	.	507	E9PAX1	.	N	507;428	.	ENSP00000442432:D428N	D	-	1	0	C10orf140	21845239	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.352000	0.52239	2.712000	0.92718	0.650000	0.86243	GAC		0.652	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2		NM_207371		17	93	0	0	0	0.000422831	0	17	93		
PIP4K2A	5305	broad.mit.edu	37	10	22828982	22828982	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr10:22828982T>A	ENST00000376573.4	-	9	1286	c.1058A>T	c.(1057-1059)tAc>tTc	p.Y353F	PIP4K2A_ENST00000323883.7_Missense_Mutation_p.Y213F|PIP4K2A_ENST00000545335.1_Missense_Mutation_p.Y294F	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	353	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				megakaryocyte development (GO:0035855)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						TGCCATGAAGTACACCTCCTT	0.478																																						uc001irl.3		NaN																	0				ovary(1)|skin(1)	2						c.(1057-1059)TAC>TTC		phosphatidylinositol-5-phosphate 4-kinase, type							158.0	143.0	148.0					10																	22828982		2203	4300	6503	SO:0001583	missense	5305						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding	g.chr10:22828982T>A	S78798	CCDS7141.1	10p12.2	2007-08-21	2007-08-14	2007-08-14	ENSG00000150867	ENSG00000150867			8997	protein-coding gene	gene with protein product		603140	"""phosphatidylinositol-4-phosphate 5-kinase, type II, alpha"""	PIP5K2A		7852364, 9367159	Standard	NM_005028		Approved	PIP5KIIA, PIP5KIIalpha	uc001irl.4	P48426	OTTHUMG00000017810	ENST00000376573.4:c.1058A>T	10.37:g.22828982T>A	ENSP00000365757:p.Tyr353Phe					PIP4K2A_uc010qcu.1_Missense_Mutation_p.Y213F	p.Y353F	NM_005028	NP_005019	P48426	PI42A_HUMAN			9	1306	-			353			PIPK.		B0YJ66|B4DGX2|D3DRV1|P53807|Q5VUX3	Missense_Mutation	SNP	ENST00000376573.4	37	c.1058A>T	CCDS7141.1	.	.	.	.	.	.	.	.	.	.	T	34	5.368924	0.95900	.	.	ENSG00000150867	ENST00000376573;ENST00000323883;ENST00000545335	T;T;T	0.38887	1.11;1.11;1.11	5.91	5.91	0.95273	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.67711	0.2922	M	0.86805	2.84	0.80722	D	1	P;D	0.69078	0.661;0.997	P;D	0.63381	0.539;0.914	T	0.73408	-0.3992	10	0.59425	D	0.04	-38.7584	16.3351	0.83056	0.0:0.0:0.0:1.0	.	213;353	B4DH09;P48426	.;PI42A_HUMAN	F	353;213;294	ENSP00000365757:Y353F;ENSP00000326294:Y213F;ENSP00000442098:Y294F	ENSP00000326294:Y213F	Y	-	2	0	PIP4K2A	22868988	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.689000	0.84165	2.262000	0.75019	0.528000	0.53228	TAC		0.478	PIP4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047193.1		NM_005028		37	91	0	0	0	0.000191422	0	37	91		
CPEB3	22849	broad.mit.edu	37	10	93952323	93952323	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr10:93952323G>C	ENST00000265997.4	-	3	1248	c.1076C>G	c.(1075-1077)aCt>aGt	p.T359S	CPEB3_ENST00000412050.4_Missense_Mutation_p.T359S	NM_014912.4	NP_055727.3	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	359					3'-UTR-mediated mRNA destabilization (GO:0061158)|cellular response to amino acid stimulus (GO:0071230)|long-term memory (GO:0007616)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation (GO:0017148)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of mRNA polyadenylation (GO:1900365)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|regulation of dendritic spine development (GO:0060998)|regulation of synaptic plasticity (GO:0048167)|translation (GO:0006412)	apical dendrite (GO:0097440)|CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuron projection (GO:0043005)|nucleus (GO:0005634)|synapse (GO:0045202)	mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|translation factor activity, nucleic acid binding (GO:0008135)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				TTCATGATCAGTCCTTATCAT	0.403																																						uc001khw.1		NaN																	0					0						c.(1075-1077)ACT>AGT		cytoplasmic polyadenylation element binding							129.0	118.0	122.0					10																	93952323		2203	4300	6503	SO:0001583	missense	22849						nucleotide binding|RNA binding	g.chr10:93952323G>C	AB023157	CCDS31246.1, CCDS53553.1	10q23.33	2013-02-12			ENSG00000107864	ENSG00000107864		"""RNA binding motif (RRM) containing"""	21746	protein-coding gene	gene with protein product		610606				10231032, 12672660	Standard	NM_014912		Approved	KIAA0940	uc001khw.2	Q8NE35	OTTHUMG00000018756	ENST00000265997.4:c.1076C>G	10.37:g.93952323G>C	ENSP00000265997:p.Thr359Ser					CPEB3_uc001khu.1_Missense_Mutation_p.T359S|CPEB3_uc001khv.1_Missense_Mutation_p.T359S|CPEB3_uc010qnn.1_Missense_Mutation_p.T359S	p.T359S	NM_014912	NP_055727	Q8NE35	CPEB3_HUMAN			3	1249	-		Colorectal(252;0.0869)	359					Q5T389|Q9NQJ7|Q9Y2E9	Missense_Mutation	SNP	ENST00000265997.4	37	c.1076C>G	CCDS31246.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.208698	0.58343	.	.	ENSG00000107864	ENST00000394210;ENST00000412050;ENST00000265997	T;T	0.44482	0.93;0.92	6.06	6.06	0.98353	.	0.158517	0.56097	D	0.000036	T	0.26846	0.0657	N	0.08118	0	0.45690	D	0.998609	B;P;P	0.37955	0.112;0.478;0.612	B;B;B	0.33454	0.119;0.079;0.164	T	0.06789	-1.0807	10	0.32370	T	0.25	-8.1956	20.6314	0.99525	0.0:0.0:1.0:0.0	.	359;359;359	Q8NE35;Q5QP71;Q8NE35-2	CPEB3_HUMAN;.;.	S	359	ENSP00000398310:T359S;ENSP00000265997:T359S	ENSP00000265997:T359S	T	-	2	0	CPEB3	93942303	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.379000	0.79691	2.885000	0.99019	0.579000	0.79373	ACT		0.403	CPEB3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049387.2		NM_014912		6	19	0	0	0	3.59834e-05	0	6	19		
RAG2	5897	broad.mit.edu	37	11	36615460	36615460	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr11:36615460C>G	ENST00000311485.3	-	2	420	c.259G>C	c.(259-261)Gaa>Caa	p.E87Q	C11orf74_ENST00000334307.5_5'Flank|C11orf74_ENST00000446510.2_5'Flank|C11orf74_ENST00000347206.4_5'Flank|C11orf74_ENST00000534635.1_5'Flank|RAG2_ENST00000528428.1_5'Flank	NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	87					B cell differentiation (GO:0030183)|chromatin modification (GO:0016568)|pre-B cell allelic exclusion (GO:0002331)|T cell differentiation in thymus (GO:0033077)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TGATGCTTTTCAGACTCCAAG	0.418									Familial Hemophagocytic Lymphohistiocytosis																													uc001mwv.3		NaN																	0				skin(3)|ovary(1)|pancreas(1)	5						c.(259-261)GAA>CAA		recombination activating gene 2							149.0	153.0	152.0					11																	36615460		2202	4298	6500	SO:0001583	missense	5897	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding	g.chr11:36615460C>G	AF080577	CCDS7903.1	11p13	2014-09-17				ENSG00000175097			9832	protein-coding gene	gene with protein product		179616				1283330	Standard	NM_000536		Approved		uc001mwv.4	P55895		ENST00000311485.3:c.259G>C	11.37:g.36615460C>G	ENSP00000308620:p.Glu87Gln					C11orf74_uc010rfd.1_5'Flank|C11orf74_uc001mww.1_5'Flank|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank	p.E87Q	NM_000536	NP_000527	P55895	RAG2_HUMAN			2	447	-	all_lung(20;0.226)	all_hematologic(20;0.00756)	87					A8K9E9|Q8TBL4	Missense_Mutation	SNP	ENST00000311485.3	37	c.259G>C	CCDS7903.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.431232	0.43122	.	.	ENSG00000175097	ENST00000311485;ENST00000529083	D;D	0.91011	-2.77;-2.77	5.83	4.91	0.64330	Galactose oxidase/kelch, beta-propeller (1);Kelch-type beta propeller (1);	0.600689	0.17144	N	0.185332	D	0.92805	0.7712	M	0.88377	2.95	0.29719	N	0.838825	B	0.27316	0.175	B	0.33890	0.172	D	0.90581	0.4529	10	0.87932	D	0	-27.4169	15.2062	0.73180	0.0:0.9318:0.0:0.0682	.	87	P55895	RAG2_HUMAN	Q	87	ENSP00000308620:E87Q;ENSP00000436327:E87Q	ENSP00000308620:E87Q	E	-	1	0	RAG2	36572036	0.998000	0.40836	1.000000	0.80357	0.716000	0.41182	2.743000	0.47442	2.759000	0.94783	0.650000	0.86243	GAA		0.418	RAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389536.1		NM_000536		20	366	0	0	0	0.000175454	0	20	366		
EXT2	2132	broad.mit.edu	37	11	44135765	44135765	+	Silent	SNP	G	G	C	rs368087959		TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr11:44135765G>C	ENST00000343631.3	+	4	786	c.657G>C	c.(655-657)acG>acC	p.T219T	EXT2_ENST00000533608.1_Silent_p.T219T|EXT2_ENST00000529186.1_3'UTR|EXT2_ENST00000358681.4_Silent_p.T219T|EXT2_ENST00000395673.3_Silent_p.T252T			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	219					carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|cellular polysaccharide biosynthetic process (GO:0033692)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm formation (GO:0001707)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						GCTTTTCTACGTGGACTTACC	0.473			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses																													uc001mxz.2		NaN	yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	Mis|N|F|S	multiple exostoses type 2 gene			M		exostoses|osteosarcoma			0				lung(2)|breast(2)|skin(1)	5						c.(655-657)ACG>ACC		exostosin 2 isoform 2							141.0	126.0	131.0					11																	44135765		2203	4300	6503	SO:0001819	synonymous_variant	2132	Hereditary_Multiple_Exostoses	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	g.chr11:44135765G>C		CCDS7908.1, CCDS53618.1, CCDS53619.1	11p12-p11	2014-09-17	2013-03-01		ENSG00000151348	ENSG00000151348	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3513	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608210	"""exostoses (multiple) 2"", ""exostosin 2"""			8162019, 9576285	Standard	NM_000401		Approved	SOTV	uc001mya.3	Q93063	OTTHUMG00000166498	ENST00000343631.3:c.657G>C	11.37:g.44135765G>C						EXT2_uc010rfo.1_Silent_p.T247T|EXT2_uc001mxy.2_Silent_p.T232T|EXT2_uc009ykt.2_Silent_p.T219T|EXT2_uc001mya.2_Silent_p.T252T	p.T219T	NM_207122	NP_997005	Q93063	EXT2_HUMAN			4	991	+			219			Lumenal (Potential).		B2R5Z6|C9JU51|J3KPT2|O15288	Silent	SNP	ENST00000343631.3	37	c.657G>C	CCDS7908.1																																																																																				0.473	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390074.1		NM_000401		7	94	0	0	0	8.12818e-05	0	7	94		
OR4A47	403253	broad.mit.edu	37	11	48511224	48511224	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr11:48511224A>G	ENST00000446524.1	+	1	956	c.880A>G	c.(880-882)Agt>Ggt	p.S294G		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	294						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TGAGATGACAAGTGCTATGAA	0.418																																						uc010rhx.1		NaN																	0				ovary(1)|skin(1)	2						c.(880-882)AGT>GGT		olfactory receptor, family 4, subfamily A,							101.0	99.0	100.0					11																	48511224		2201	4297	6498	SO:0001583	missense	403253				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48511224A>G	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"""GPCR / Class A : Olfactory receptors"""	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.880A>G	11.37:g.48511224A>G	ENSP00000412752:p.Ser294Gly						p.S294G	NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN			1	880	+			294			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000446524.1	37	c.880A>G	CCDS31490.1	.	.	.	.	.	.	.	.	.	.	N	11.75	1.732065	0.30684	.	.	ENSG00000237388	ENST00000446524	T	0.37584	1.19	4.59	4.59	0.56863	.	0.102410	0.43260	D	0.000598	T	0.20577	0.0495	N	0.10733	0.035	0.23869	N	0.996612	B	0.19445	0.036	B	0.15870	0.014	T	0.22068	-1.0227	10	0.87932	D	0	.	11.9052	0.52708	1.0:0.0:0.0:0.0	.	294	Q6IF82	O4A47_HUMAN	G	294	ENSP00000412752:S294G	ENSP00000412752:S294G	S	+	1	0	OR4A47	48467800	0.000000	0.05858	0.996000	0.52242	0.606000	0.37113	0.029000	0.13666	1.692000	0.51112	0.172000	0.16884	AGT		0.418	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390559.1		NM_001005512		3	56	0	0	0	6.4e-05	0	3	56		
OR8J1	219477	broad.mit.edu	37	11	56128191	56128191	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr11:56128191A>G	ENST00000303039.3	+	1	501	c.469A>G	c.(469-471)Att>Gtt	p.I157V		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	157						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TTCTACAGCTATTGTGGTTTC	0.423																																						uc010rjh.1		NaN																	0				ovary(2)	2						c.(469-471)ATT>GTT		olfactory receptor, family 8, subfamily J,							111.0	103.0	106.0					11																	56128191		2201	4296	6497	SO:0001583	missense	219477				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56128191A>G	AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487		"""GPCR / Class A : Olfactory receptors"""	14855	protein-coding gene	gene with protein product							Standard	NM_001005205		Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	ENST00000303039.3:c.469A>G	11.37:g.56128191A>G	ENSP00000304060:p.Ile157Val						p.I157V	NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN			1	469	+	Esophageal squamous(21;0.00448)		157			Helical; Name=4; (Potential).		B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Missense_Mutation	SNP	ENST00000303039.3	37	c.469A>G	CCDS31529.1	.	.	.	.	.	.	.	.	.	.	a	2.828	-0.243265	0.05906	.	.	ENSG00000172487	ENST00000303039	T	0.00044	8.83	3.91	-7.5	0.01351	GPCR, rhodopsin-like superfamily (1);	1.136460	0.06383	N	0.715619	T	0.00073	0.0002	N	0.04116	-0.275	0.09310	N	1	B	0.02656	0.0	B	0.13407	0.009	T	0.08371	-1.0725	10	0.27082	T	0.32	.	2.3287	0.04229	0.284:0.1106:0.388:0.2175	.	157	Q8NGP2	OR8J1_HUMAN	V	157	ENSP00000304060:I157V	ENSP00000304060:I157V	I	+	1	0	OR8J1	55884767	0.000000	0.05858	0.000000	0.03702	0.254000	0.26022	-1.777000	0.01780	-1.230000	0.02561	-1.381000	0.01174	ATT		0.423	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391606.2		NM_001005205		4	36	0	0	0	0.00024832	0	4	36		
STX3	6809	broad.mit.edu	37	11	59554605	59554605	+	Missense_Mutation	SNP	G	G	C	rs140824363		TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr11:59554605G>C	ENST00000337979.4	+	3	757	c.210G>C	c.(208-210)gaG>gaC	p.E70D	STX3_ENST00000529177.1_Missense_Mutation_p.E70D|STX3_ENST00000437946.2_Intron|STX3_ENST00000535361.1_Missense_Mutation_p.E70D|STX3_ENST00000300150.7_Missense_Mutation_p.E39D	NM_001178040.1|NM_004177.4	NP_001171511.1|NP_004168.1	Q13277	STX3_HUMAN	syntaxin 3	70					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|long-term synaptic potentiation (GO:0060291)|membrane fusion (GO:0061025)|neuron projection development (GO:0031175)|neurotransmitter transport (GO:0006836)	apical plasma membrane (GO:0016324)|azurophil granule (GO:0042582)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|vacuole (GO:0005773)	arachidonic acid binding (GO:0050544)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						CGATTCCAGAGCCAAGTGAGT	0.448																																						uc001nog.2		NaN																	0				ovary(2)	2						c.(208-210)GAG>GAC		syntaxin 3		G	ASP/GLU,ASP/GLU	0,4402		0,0,2201	124.0	111.0	115.0		210,210	4.0	1.0	11	dbSNP_134	115	1,8589	1.2+/-3.3	0,1,4294	no	missense,missense	STX3	NM_001178040.1,NM_004177.4	45,45	0,1,6495	CC,CG,GG		0.0116,0.0,0.0077	benign,benign	70/278,70/290	59554605	1,12991	2201	4295	6496	SO:0001583	missense	6809				cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport	apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule	arachidonic acid binding|SNAP receptor activity	g.chr11:59554605G>C	AJ002076	CCDS7975.1, CCDS53637.1	11q12.1	2008-02-05	2006-04-25	2006-04-25	ENSG00000166900	ENSG00000166900			11438	protein-coding gene	gene with protein product		600876	"""syntaxin 3A"""	STX3A		16598260, 16339081	Standard	NM_004177		Approved		uc001nog.3	Q13277	OTTHUMG00000167353	ENST00000337979.4:c.210G>C	11.37:g.59554605G>C	ENSP00000338562:p.Glu70Asp					STX3_uc010rkx.1_Missense_Mutation_p.E70D|STX3_uc010rky.1_Intron|STX3_uc009ymt.1_5'UTR	p.E70D	NM_004177	NP_004168	Q13277	STX3_HUMAN			3	400	+			70			Cytoplasmic (Potential).|Potential.		B4DME0|O43750|O43751|Q15360	Missense_Mutation	SNP	ENST00000337979.4	37	c.210G>C	CCDS7975.1	.	.	.	.	.	.	.	.	.	.	G	3.881	-0.025874	0.07589	0.0	1.16E-4	ENSG00000166900	ENST00000300150;ENST00000337979;ENST00000535361;ENST00000529177;ENST00000528805	T;T;T;T;T	0.14893	2.47;2.47;2.47;2.47;2.47	5.01	3.98	0.46160	t-SNARE (1);Syntaxin, N-terminal (2);	0.048776	0.85682	D	0.000000	T	0.05273	0.0140	N	0.02842	-0.48	0.80722	D	1	B;B	0.16603	0.018;0.018	B;B	0.25405	0.06;0.06	T	0.32348	-0.9910	10	0.02654	T	1	-4.0972	5.4328	0.16463	0.1346:0.0:0.6645:0.2009	.	70;70	B4DME0;Q13277	.;STX3_HUMAN	D	39;70;70;70;22	ENSP00000300150:E39D;ENSP00000338562:E70D;ENSP00000441649:E70D;ENSP00000433248:E70D;ENSP00000431386:E22D	ENSP00000300150:E39D	E	+	3	2	STX3	59311181	0.999000	0.42202	1.000000	0.80357	0.983000	0.72400	0.515000	0.22801	2.312000	0.78011	0.650000	0.86243	GAG		0.448	STX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394264.1		NM_004177		6	43	0	0	0	8.12818e-05	0	6	43		
LTBP3	4054	broad.mit.edu	37	11	65308027	65308027	+	Silent	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr11:65308027G>A	ENST00000301873.5	-	22	3304	c.3036C>T	c.(3034-3036)aaC>aaT	p.N1012N	LTBP3_ENST00000322147.4_Silent_p.N1012N|LTBP3_ENST00000529189.1_Silent_p.N15N|LTBP3_ENST00000536982.1_Silent_p.N638N|LTBP3_ENST00000530785.1_Silent_p.N15N|LTBP3_ENST00000532932.1_Silent_p.N442N	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	1012	EGF-like 10; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						CAGGCTGCGTGTTCACGCACT	0.642											OREG0021080	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001oej.2		NaN																	0				central_nervous_system(2)|lung(1)	3						c.(3034-3036)AAC>AAT		latent transforming growth factor beta binding							82.0	68.0	73.0					11																	65308027		2201	4297	6498	SO:0001819	synonymous_variant	4054					extracellular region	calcium ion binding|growth factor binding	g.chr11:65308027G>A	AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"""Latent transforming growth factor, beta binding proteins"""	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.3036C>T	11.37:g.65308027G>A			OREG0021080	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1083	LTBP3_uc001oef.2_Silent_p.N15N|LTBP3_uc001oeg.2_Silent_p.N15N|LTBP3_uc001oeh.2_Silent_p.N442N|LTBP3_uc010roi.1_Silent_p.N895N|LTBP3_uc001oei.2_Silent_p.N1012N|LTBP3_uc010roj.1_Silent_p.N713N|LTBP3_uc010rok.1_Silent_p.N923N	p.N1012N	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN			22	3305	-			1012			EGF-like 10; calcium-binding (Potential).		O15107|Q96HB9|Q9H7K2|Q9UFN4	Silent	SNP	ENST00000301873.5	37	c.3036C>T	CCDS44647.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.319430	0.23994	.	.	ENSG00000168056	ENST00000526927	.	.	.	4.13	0.369	0.16151	.	.	.	.	.	T	0.53706	0.1813	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40365	-0.9567	4	.	.	.	.	7.2099	0.25927	0.4941:0.0:0.5059:0.0	.	.	.	.	Y	663	.	.	H	-	1	0	LTBP3	65064603	1.000000	0.71417	0.995000	0.50966	0.971000	0.66376	1.483000	0.35497	-0.267000	0.09325	0.455000	0.32223	CAC		0.642	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1		NM_021070		22	131	0	0	0	0.000295444	0	22	131		
ARHGEF17	9828	broad.mit.edu	37	11	73073578	73073578	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr11:73073578C>T	ENST00000263674.3	+	14	5145	c.4795C>T	c.(4795-4797)Ctc>Ttc	p.L1599F		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1599					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						AGCCGCGACGCTCGCGGAGCC	0.731																																						uc001otu.2		NaN																	0					0						c.(4795-4797)CTC>TTC		Rho guanine nucleotide exchange factor (GEF) 17							10.0	16.0	14.0					11																	73073578		2155	4241	6396	SO:0001583	missense	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73073578C>T	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.4795C>T	11.37:g.73073578C>T	ENSP00000263674:p.Leu1599Phe						p.L1599F	NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN			14	4816	+			1599					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	c.4795C>T	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.443934	0.43429	.	.	ENSG00000110237	ENST00000263674	T	0.58652	0.32	5.3	3.39	0.38822	.	0.414035	0.23698	N	0.045453	T	0.38374	0.1038	N	0.22421	0.69	0.09310	N	1	B	0.31054	0.306	B	0.27500	0.08	T	0.21484	-1.0244	10	0.42905	T	0.14	-7.049	7.6256	0.28210	0.1346:0.7186:0.0:0.1468	.	1599	Q96PE2	ARHGH_HUMAN	F	1599	ENSP00000263674:L1599F	ENSP00000263674:L1599F	L	+	1	0	ARHGEF17	72751226	0.000000	0.05858	0.003000	0.11579	0.005000	0.04900	0.083000	0.14871	0.705000	0.31890	-0.251000	0.11542	CTC		0.731	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1		NM_014786		5	32	0	0	0	8.12818e-05	0	5	32		
HEPHL1	341208	broad.mit.edu	37	11	93796804	93796804	+	Silent	SNP	G	G	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr11:93796804G>C	ENST00000315765.9	+	3	554	c.546G>C	c.(544-546)ctG>ctC	p.L182L		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	182	Plastocyanin-like 1.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CCAACTGCCTGACCTGGGTGT	0.532																																						uc001pep.2		NaN																	0				ovary(3)	3						c.(544-546)CTG>CTC		hephaestin-like 1 precursor							100.0	100.0	100.0					11																	93796804		1975	4166	6141	SO:0001819	synonymous_variant	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93796804G>C	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.546G>C	11.37:g.93796804G>C							p.L182L	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN			3	703	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	182			Plastocyanin-like 1.|Extracellular (Potential).		Q3C1W7	Silent	SNP	ENST00000315765.9	37	c.546G>C	CCDS44710.1																																																																																				0.532	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2		XM_291947		5	47	0	0	0	0.000602214	0	5	47		
SESN3	143686	broad.mit.edu	37	11	94911061	94911061	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr11:94911061C>T	ENST00000536441.1	-	8	1405	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	RP11-712B9.2_ENST00000534891.1_RNA|SESN3_ENST00000278499.2_Missense_Mutation_p.E218K|RP11-712B9.2_ENST00000534864.1_RNA	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	357					glucose homeostasis (GO:0042593)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)|response to insulin (GO:0032868)	nucleus (GO:0005634)				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		CCATGATTTTCCCAGGTATAG	0.313																																						uc001pfk.1		NaN																	0					0						c.(1069-1071)GAA>AAA		sestrin 3							55.0	52.0	53.0					11																	94911061		2201	4298	6499	SO:0001583	missense	143686				cell cycle arrest	nucleus		g.chr11:94911061C>T	AK096300	CCDS8303.1, CCDS60938.1	11q21	2005-09-18			ENSG00000149212	ENSG00000149212			23060	protein-coding gene	gene with protein product		607768				12607115	Standard	NM_144665		Approved	SEST3, MGC29667	uc001pfj.4	P58005	OTTHUMG00000167829	ENST00000536441.1:c.1069G>A	11.37:g.94911061C>T	ENSP00000441927:p.Glu357Lys					SESN3_uc010rug.1_Missense_Mutation_p.E218K	p.E357K	NM_144665	NP_653266	P58005	SESN3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.234)	8	1291	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	357					B7Z7P9|Q96AD1	Missense_Mutation	SNP	ENST00000536441.1	37	c.1069G>A	CCDS8303.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.102534	0.76983	.	.	ENSG00000149212	ENST00000536441;ENST00000278499	T;T	0.25414	1.8;1.8	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.54046	0.1834	M	0.76433	2.335	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.80764	0.992;0.994	T	0.56792	-0.7920	10	0.72032	D	0.01	-1.6317	19.279	0.94044	0.0:1.0:0.0:0.0	.	218;357	B7Z7P9;P58005	.;SESN3_HUMAN	K	357;218	ENSP00000441927:E357K;ENSP00000278499:E218K	ENSP00000278499:E218K	E	-	1	0	SESN3	94550709	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.321000	0.79088	2.560000	0.86352	0.655000	0.94253	GAA		0.313	SESN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396475.3		NM_144665		5	15	0	0	0	0.000602214	0	5	15		
DSCAML1	57453	broad.mit.edu	37	11	117667803	117667803	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr11:117667803G>C	ENST00000321322.6	-	1	173	c.172C>G	c.(172-174)Ctt>Gtt	p.L58V	DSCAML1_ENST00000527706.1_5'UTR	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	0	Ig-like C2-type 1.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		ATGCCATAAAGAGGCCCTATT	0.711																																						uc001prh.1		NaN																	0				ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(172-174)CTT>GTT		Down syndrome cell adhesion molecule like 1							35.0	32.0	33.0					11																	117667803		2201	4292	6493	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117667803G>C		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.172C>G	11.37:g.117667803G>C	ENSP00000315465:p.Leu58Val					DSCAML1_uc001pri.1_Intron	p.L58V	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	1	174	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	Error:Variant_position_missing_in_Q8TD84_after_alignment					Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.172C>G	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.870344	0.51588	.	.	ENSG00000177103	ENST00000321322	T	0.60299	0.2	4.69	3.69	0.42338	.	.	.	.	.	T	0.44008	0.1273	.	.	.	0.27890	N	0.939382	.	.	.	.	.	.	T	0.26052	-1.0114	6	0.15066	T	0.55	.	10.9725	0.47446	0.0:0.0:0.8135:0.1865	.	.	.	.	V	58	ENSP00000315465:L58V	ENSP00000315465:L58V	L	-	1	0	DSCAML1	117173013	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.385000	0.52485	2.303000	0.77524	0.448000	0.29417	CTT		0.711	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2		NM_020693		3	50	0	0	0	6.4e-05	0	3	50		
NCAPD2	9918	broad.mit.edu	37	12	6638150	6638150	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr12:6638150C>T	ENST00000315579.5	+	27	4316	c.3517C>T	c.(3517-3519)Cgc>Tgc	p.R1173C	NCAPD2_ENST00000545962.1_Missense_Mutation_p.R1128C	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1173					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)	p.R1173C(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						TATCATCAGCCGCCTGTCAGA	0.547																																						uc001qoo.2		NaN																	1	Substitution - Missense(1)		endometrium(1)	ovary(2)|lung(1)|breast(1)|kidney(1)	5						c.(3517-3519)CGC>TGC		non-SMC condensin I complex, subunit D2							72.0	81.0	78.0					12																	6638150		2203	4300	6503	SO:0001583	missense	9918				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	g.chr12:6638150C>T	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.3517C>T	12.37:g.6638150C>T	ENSP00000325017:p.Arg1173Cys					NCAPD2_uc010sfd.1_Missense_Mutation_p.R1128C	p.R1173C	NM_014865	NP_055680	Q15021	CND1_HUMAN			27	3563	+			1173					D3DUR4|Q8N6U3	Missense_Mutation	SNP	ENST00000315579.5	37	c.3517C>T	CCDS8548.1	.	.	.	.	.	.	.	.	.	.	C	33	5.219576	0.95139	.	.	ENSG00000010292	ENST00000315579;ENST00000545962	T;T	0.46451	0.87;0.87	5.3	5.3	0.74995	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70692	0.3253	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.74103	-0.3773	10	0.54805	T	0.06	-19.3596	19.1356	0.93426	0.0:1.0:0.0:0.0	.	1128;1173	F5GZJ1;Q15021	.;CND1_HUMAN	C	1173;1128	ENSP00000325017:R1173C;ENSP00000444417:R1128C	ENSP00000325017:R1173C	R	+	1	0	NCAPD2	6508411	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.485000	0.66850	2.756000	0.94617	0.563000	0.77884	CGC		0.547	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1		NM_014865		15	81	0	0	0	0.000566183	0	15	81		
A2ML1	144568	broad.mit.edu	37	12	9020633	9020633	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr12:9020633C>T	ENST00000299698.7	+	30	4093	c.3913C>T	c.(3913-3915)Cag>Tag	p.Q1305*	A2ML1_ENST00000539547.1_Nonsense_Mutation_p.Q814*	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GGCCTCAGGCCAGGGCTGTGT	0.507																																						uc001quz.3		NaN																	0				ovary(2)|skin(1)	3						c.(3913-3915)CAG>TAG		alpha-2-macroglobulin-like 1 precursor							78.0	75.0	76.0					12																	9020633		1963	4156	6119	SO:0001587	stop_gained	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:9020633C>T	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.3913C>T	12.37:g.9020633C>T	ENSP00000299698:p.Gln1305*					A2ML1_uc001qva.1_Nonsense_Mutation_p.Q885*|A2ML1_uc010sgm.1_Nonsense_Mutation_p.Q805*|A2ML1_uc001qvb.1_RNA	p.Q1305*	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN			30	4011	+			1149						Nonsense_Mutation	SNP	ENST00000299698.7	37	c.3913C>T	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	C	41	8.649436	0.98899	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	.	.	.	3.63	1.77	0.24775	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	6.9711	0.24648	0.4653:0.3773:0.1574:0.0	.	.	.	.	X	1305;1305;855;814	.	ENSP00000299698:Q1305X	Q	+	1	0	A2ML1	8911900	0.000000	0.05858	0.999000	0.59377	0.166000	0.22503	-0.158000	0.10070	0.510000	0.28216	-0.218000	0.12543	CAG		0.507	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3		NM_144670		8	73	0	0	0	0.000274275	0	8	73		
ITPR2	3709	broad.mit.edu	37	12	26818878	26818878	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr12:26818878G>A	ENST00000381340.3	-	14	1932	c.1516C>T	c.(1516-1518)Caa>Taa	p.Q506*		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	506					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	ATCAATTTTTGACGCTCTCGG	0.348																																						uc001rhg.2		NaN																	0				kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14						c.(1516-1518)CAA>TAA		inositol 1,4,5-triphosphate receptor, type 2							110.0	100.0	103.0					12																	26818878		1823	4096	5919	SO:0001587	stop_gained	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26818878G>A	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.1516C>T	12.37:g.26818878G>A	ENSP00000370744:p.Gln506*						p.Q506*	NM_002223	NP_002214	Q14571	ITPR2_HUMAN			14	1933	-	Colorectal(261;0.0847)		506			Cytoplasmic (Potential).		O94773	Nonsense_Mutation	SNP	ENST00000381340.3	37	c.1516C>T	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	G	43	10.506738	0.99418	.	.	ENSG00000123104	ENST00000381340	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.0749	0.93156	0.0:0.0:1.0:0.0	.	.	.	.	X	506	.	ENSP00000370744:Q506X	Q	-	1	0	ITPR2	26710145	1.000000	0.71417	0.696000	0.30242	0.995000	0.86356	9.635000	0.98437	2.716000	0.92895	0.591000	0.81541	CAA		0.348	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1		NM_002223		9	67	0	0	0	0.000442599	0	9	67		
UHRF1BP1L	23074	broad.mit.edu	37	12	100452896	100452896	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr12:100452896T>A	ENST00000279907.7	-	14	2371	c.2159A>T	c.(2158-2160)gAc>gTc	p.D720V	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.D370V	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	720										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						AGGGAATGAGTCTACAAAACT	0.398																																						uc001tgq.2		NaN																	0				ovary(2)	2						c.(2158-2160)GAC>GTC		UHRF1 (ICBP90) binding protein 1-like isoform a							89.0	93.0	92.0					12																	100452896		2203	4300	6503	SO:0001583	missense	23074							g.chr12:100452896T>A		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.2159A>T	12.37:g.100452896T>A	ENSP00000279907:p.Asp720Val					UHRF1BP1L_uc001tgp.2_Missense_Mutation_p.D370V	p.D720V	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN			14	2388	-			720					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	ENST00000279907.7	37	c.2159A>T	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	T	18.41	3.617156	0.66672	.	.	ENSG00000111647	ENST00000279907;ENST00000545232	T;T	0.13089	2.67;2.62	5.78	5.78	0.91487	.	0.046323	0.85682	D	0.000000	T	0.37019	0.0988	M	0.77103	2.36	0.80722	D	1	D	0.63046	0.992	P	0.61477	0.889	T	0.15435	-1.0437	10	0.62326	D	0.03	-12.8888	16.1141	0.81289	0.0:0.0:0.0:1.0	.	720	A0JNW5	UH1BL_HUMAN	V	720;370	ENSP00000279907:D720V;ENSP00000444824:D370V	ENSP00000279907:D720V	D	-	2	0	UHRF1BP1L	98977027	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.841000	0.86834	2.214000	0.71695	0.528000	0.53228	GAC		0.398	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1		NM_001006947		7	65	0	0	0	8.12818e-05	0	7	65		
TBX5	6910	broad.mit.edu	37	12	114793599	114793599	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr12:114793599G>A	ENST00000310346.4	-	9	1961	c.1295C>T	c.(1294-1296)tCg>tTg	p.S432L	TBX5_ENST00000349716.5_Missense_Mutation_p.S382L|TBX5_ENST00000405440.2_Missense_Mutation_p.S432L	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	432				MDRLPYQHFSAHFTSGPLVPRLAGMANHGSPQLGEGMFQHQ TS -> WTGYPTSTSPLTSPRGPWSLGWLAWQPWLPTAGRG NVPSTRPP (in Ref. 1; CAA70592). {ECO:0000305}.	apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|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 positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CAGGGGCCCCGAGGTGAAGTG	0.647																																					NSCLC(152;1358 1980 4050 23898 40356)	uc001tvo.2		NaN																	0				ovary(6)|pancreas(1)|skin(1)	8						c.(1294-1296)TCG>TTG		T-box 5 isoform 1							25.0	26.0	26.0					12																	114793599		2203	4298	6501	SO:0001583	missense	6910				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114793599G>A	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.1295C>T	12.37:g.114793599G>A	ENSP00000309913:p.Ser432Leu					TBX5_uc001tvp.2_Missense_Mutation_p.S432L|TBX5_uc001tvq.2_Missense_Mutation_p.S382L	p.S432L	NM_181486	NP_852259	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	9	1790	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		432	MDRLPYQHFSAHFTSGPLVPRLAGMANHGSPQLGEGMFQHQ TS -> WTGYPTSTSPLTSPRGPWSLGWLAWQPWLPTAGRG NVPSTRPP (in Ref. 1; CAA70592).				A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	ENST00000310346.4	37	c.1295C>T	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888701	0.91814	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440	T;T;T	0.60797	0.16;0.16;0.16	5.27	4.38	0.52667	.	0.230621	0.38436	N	0.001691	T	0.72669	0.3489	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.71935	-0.4442	10	0.34782	T	0.22	.	13.5027	0.61467	0.0749:0.0:0.9251:0.0	.	432	Q99593	TBX5_HUMAN	L	382;432;329;432	ENSP00000337723:S382L;ENSP00000309913:S432L;ENSP00000384152:S432L	ENSP00000309913:S432L	S	-	2	0	TBX5	113277982	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	1.223000	0.43536	0.655000	0.94253	TCG		0.647	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1		NM_080717		5	31	0	0	0	3.59834e-05	0	5	31		
GLT1D1	144423	broad.mit.edu	37	12	129432001	129432001	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr12:129432001G>A	ENST00000442111.2	+	10	866	c.778G>A	c.(778-780)Gag>Aag	p.E260K	GLT1D1_ENST00000537468.1_Missense_Mutation_p.E265K|GLT1D1_ENST00000281703.6_Missense_Mutation_p.E180K|GLT1D1_ENST00000542193.1_Missense_Mutation_p.E177K			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	260					biosynthetic process (GO:0009058)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		TGCAATTTTGGAGGTAATTAT	0.458																																						uc010tbh.1		NaN																	0					0						c.(793-795)GAG>AAG		glycosyltransferase 1 domain containing 1							153.0	129.0	137.0					12																	129432001		2203	4300	6503	SO:0001583	missense	144423				biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups	g.chr12:129432001G>A		CCDS9265.1	12q24.32	2013-02-22			ENSG00000151948	ENSG00000151948		"""Glycosyltransferase group 1 domain containing"""	26483	protein-coding gene	gene with protein product							Standard	NM_144669		Approved	FLJ31978	uc001uhx.1	Q96MS3	OTTHUMG00000168437	ENST00000442111.2:c.778G>A	12.37:g.129432001G>A	ENSP00000394692:p.Glu260Lys					GLT1D1_uc001uhx.1_Missense_Mutation_p.E180K|GLT1D1_uc001uhy.1_RNA	p.E265K	NM_144669	NP_653270	Q96MS3	GL1D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)	11	802	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		260					Q86XG8	Missense_Mutation	SNP	ENST00000442111.2	37	c.793G>A		.	.	.	.	.	.	.	.	.	.	G	22.9	4.344798	0.82022	.	.	ENSG00000151948	ENST00000442111;ENST00000281703;ENST00000537468;ENST00000542193	D;D;D;D	0.94613	-3.47;-3.47;-3.47;-3.47	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.98157	0.9391	H	0.94306	3.52	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.99069	1.0833	10	0.87932	D	0	-49.9125	18.5217	0.90956	0.0:0.0:1.0:0.0	.	265;180	F5H088;Q96MS3-2	.;.	K	260;180;265;177	ENSP00000394692:E260K;ENSP00000281703:E180K;ENSP00000438158:E265K;ENSP00000437500:E177K	ENSP00000281703:E180K	E	+	1	0	GLT1D1	127997954	1.000000	0.71417	0.999000	0.59377	0.287000	0.27160	7.907000	0.87430	2.648000	0.89879	0.655000	0.94253	GAG		0.458	GLT1D1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000399740.1		NM_144669		10	65	0	0	0	0.000151284	0	10	65		
EP400	57634	broad.mit.edu	37	12	132446281	132446281	+	Missense_Mutation	SNP	T	T	C	rs199836470		TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr12:132446281T>C	ENST00000333577.4	+	2	1226	c.1117T>C	c.(1117-1119)Tac>Cac	p.Y373H	EP400_ENST00000330386.6_Missense_Mutation_p.Y373H|EP400_ENST00000389562.2_Missense_Mutation_p.Y373H|EP400_ENST00000332482.4_Missense_Mutation_p.Y373H|EP400_ENST00000389561.2_Missense_Mutation_p.Y373H			Q96L91	EP400_HUMAN	E1A binding protein p400	373					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GGACTATCATTACCAGGAGAT	0.473																																						uc001ujn.2		NaN																	0				central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12						c.(1117-1119)TAC>CAC		E1A binding protein p400							139.0	112.0	121.0					12																	132446281		2203	4300	6503	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132446281T>C	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.1117T>C	12.37:g.132446281T>C	ENSP00000333602:p.Tyr373His					EP400_uc001ujl.2_Missense_Mutation_p.Y373H|EP400_uc001ujm.2_Missense_Mutation_p.Y373H|EP400_uc001ujj.1_Missense_Mutation_p.Y373H|EP400_uc001ujk.2_Missense_Mutation_p.Y373H	p.Y373H	NM_015409	NP_056224	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	1	1152	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	373					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.1117T>C		.	.	.	.	.	.	.	.	.	.	T	1.185	-0.636919	0.03557	.	.	ENSG00000183495	ENST00000537902;ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000423130;ENST00000541296;ENST00000542457	D;D;D;D;D	0.89681	-2.54;-2.53;-2.53;-2.55;-2.53	5.48	-5.02	0.02982	.	0.867369	0.10434	N	0.675110	T	0.76997	0.4066	N	0.05124	-0.11	0.09310	N	1	B;B;B;B;B	0.09022	0.0;0.0;0.0;0.002;0.0	B;B;B;B;B	0.12837	0.0;0.0;0.0;0.008;0.001	T	0.50882	-0.8775	10	0.30078	T	0.28	.	19.3463	0.94363	0.0:0.8209:0.0:0.1791	.	373;373;373;373;373	Q96L91-2;Q96L91-4;Q96L91-5;F8WCN8;Q96L91-3	.;.;.;.;.	H	373	ENSP00000333602:Y373H;ENSP00000374212:Y373H;ENSP00000374213:Y373H;ENSP00000331737:Y373H;ENSP00000330620:Y373H	ENSP00000330620:Y373H	Y	+	1	0	EP400	131012234	0.940000	0.31905	0.001000	0.08648	0.174000	0.22865	0.533000	0.23082	-0.978000	0.03533	-0.441000	0.05720	TAC		0.473	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_015409		8	66	0	0	0	0.000157383	0	8	66		
RASL11A	387496	broad.mit.edu	37	13	27845086	27845086	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr13:27845086G>C	ENST00000241463.4	+	1	623	c.5G>C	c.(4-6)cGg>cCg	p.R2P		NM_206827.1	NP_996563.1			RAS-like, family 11, member A											breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	10		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164)		CGCTCCATGCGGCCGCTCAGC	0.706																																						uc001urd.1		NaN																	0				breast(1)	1						c.(4-6)CGG>CCG		RAS-like, family 11, member A							12.0	10.0	11.0					13																	27845086		2185	4271	6456	SO:0001583	missense	387496				positive regulation of transcription from RNA polymerase I promoter|small GTPase mediated signal transduction|transcription, DNA-dependent	membrane|nucleolus	GTP binding|GTPase activity	g.chr13:27845086G>C	AY439004	CCDS9321.1	13q12.2	2014-05-09			ENSG00000122035	ENSG00000122035			23802	protein-coding gene	gene with protein product		612403				15033445	Standard	NM_206827		Approved		uc001urd.1	Q6T310	OTTHUMG00000016627	ENST00000241463.4:c.5G>C	13.37:g.27845086G>C	ENSP00000241463:p.Arg2Pro						p.R2P	NM_206827	NP_996563	Q6T310	RSLBA_HUMAN	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164)	1	623	+		Lung SC(185;0.0161)	2						Missense_Mutation	SNP	ENST00000241463.4	37	c.5G>C	CCDS9321.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.745354	0.69418	.	.	ENSG00000122035	ENST00000241463	T	0.70986	-0.53	5.34	4.49	0.54785	.	0.543860	0.19446	N	0.114041	T	0.64638	0.2616	L	0.46157	1.445	0.41833	D	0.990085	P	0.43094	0.799	B	0.39738	0.308	T	0.71185	-0.4667	10	0.87932	D	0	.	13.0882	0.59153	0.0783:0.0:0.9217:0.0	.	2	Q6T310	RSLBA_HUMAN	P	2	ENSP00000241463:R2P	ENSP00000241463:R2P	R	+	2	0	RASL11A	26743086	0.532000	0.26346	0.998000	0.56505	0.282000	0.26991	1.554000	0.36266	2.519000	0.84933	0.561000	0.74099	CGG		0.706	RASL11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044265.2		NM_206827		2	1	0	0	0	6.4e-05	0	2	1		
CYSLTR2	57105	broad.mit.edu	37	13	49281341	49281341	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr13:49281341A>G	ENST00000282018.3	+	1	391	c.388A>G	c.(388-390)Acc>Gcc	p.T130A		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	130					immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell death (GO:0010942)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteinyl leukotriene receptor activity (GO:0001631)|leukotriene receptor activity (GO:0004974)			endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	TTATTTCCTGACCGTGCTGAG	0.468																																						uc010acx.1		NaN																	0				lung(2)	2						c.(388-390)ACC>GCC		cysteinyl leukotriene receptor 2	Nedocromil(DB00716)						212.0	204.0	207.0					13																	49281341		2203	4300	6503	SO:0001583	missense	57105				immune response	integral to membrane|plasma membrane		g.chr13:49281341A>G	AB038269	CCDS9412.1	13q14.2	2012-08-10			ENSG00000152207	ENSG00000152207		"""GPCR / Class A : Leukotriene receptors"""	18274	protein-coding gene	gene with protein product		605666				10913337, 1085123	Standard	NM_020377		Approved	CysLT(2), CYSLT2R	uc001vck.2	Q9NS75	OTTHUMG00000016906	ENST00000282018.3:c.388A>G	13.37:g.49281341A>G	ENSP00000282018:p.Thr130Ala					CYSLTR2_uc010acy.1_Missense_Mutation_p.T130A|CYSLTR2_uc010acz.1_Missense_Mutation_p.T130A|CYSLTR2_uc010ada.1_Missense_Mutation_p.T130A|CYSLTR2_uc010adb.1_Missense_Mutation_p.T130A|CYSLTR2_uc010adc.1_Missense_Mutation_p.T130A|CYSLTR2_uc010add.1_Missense_Mutation_p.T130A|CYSLTR2_uc010acw.1_Missense_Mutation_p.T130A|CYSLTR2_uc001vck.2_Missense_Mutation_p.T130A	p.T130A	NM_020377	NP_065110	Q9NS75	CLTR2_HUMAN		GBM - Glioblastoma multiforme(99;1.19e-09)	6	1071	+		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)	130			Helical; Name=3; (Potential).		Q9HCQ2	Missense_Mutation	SNP	ENST00000282018.3	37	c.388A>G	CCDS9412.1	.	.	.	.	.	.	.	.	.	.	A	16.86	3.240627	0.58995	.	.	ENSG00000152207	ENST00000282018	T	0.72505	-0.66	6.08	6.08	0.98989	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.77624	0.4158	M	0.62154	1.92	0.42468	D	0.992816	D	0.56035	0.974	P	0.56823	0.807	T	0.78682	-0.2109	10	0.48119	T	0.1	.	11.6584	0.51332	0.9296:0.0:0.0704:0.0	.	130	Q9NS75	CLTR2_HUMAN	A	130	ENSP00000282018:T130A	ENSP00000282018:T130A	T	+	1	0	CYSLTR2	48179342	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	2.507000	0.45442	2.333000	0.79357	0.533000	0.62120	ACC		0.468	CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044894.1				3	79	0	0	0	6.4e-05	0	3	79		
KLHL1	57626	broad.mit.edu	37	13	70681399	70681399	+	Silent	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr13:70681399G>A	ENST00000377844.4	-	1	1192	c.433C>T	c.(433-435)Ctg>Ttg	p.L145L	ATXN8OS_ENST00000424524.1_RNA|KLHL1_ENST00000545028.1_Silent_p.L13L|ATXN8OS_ENST00000414504.2_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	145					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		AGCTCTTGCAGAACCAGCCCT	0.557																																						uc001vip.2		NaN																	0					0						c.(433-435)CTG>TTG		kelch-like 1 protein							138.0	112.0	121.0					13																	70681399		2203	4300	6503	SO:0001819	synonymous_variant	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70681399G>A	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.433C>T	13.37:g.70681399G>A						KLHL1_uc010thm.1_Silent_p.L145L|ATXN8OS_uc010aej.1_RNA	p.L145L	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	1	1227	-		Breast(118;0.000162)	145					A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Silent	SNP	ENST00000377844.4	37	c.433C>T	CCDS9445.1																																																																																				0.557	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3		NM_020866		23	122	0	0	0	0.000586117	0	23	122		
F10	2159	broad.mit.edu	37	13	113795343	113795343	+	Missense_Mutation	SNP	G	G	C	rs375847622		TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr13:113795343G>C	ENST00000375559.3	+	5	519	c.481G>C	c.(481-483)Ggc>Cgc	p.G161R	F10_ENST00000375551.3_Missense_Mutation_p.G161R|F10_ENST00000409306.1_Missense_Mutation_p.G161R	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	161	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	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_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	GGCTGACAACGGCAAGGCCTG	0.682																																						uc001vsx.2		NaN																	0				pancreas(1)	1						c.(481-483)GGC>CGC		coagulation factor X preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)						78.0	66.0	70.0					13																	113795343		2203	4300	6503	SO:0001583	missense	2159				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity	g.chr13:113795343G>C		CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.481G>C	13.37:g.113795343G>C	ENSP00000364709:p.Gly161Arg					F10_uc010agq.1_RNA|F10_uc001vsy.2_Missense_Mutation_p.G161R|F10_uc001vsz.2_Missense_Mutation_p.G161R	p.G161R	NM_000504	NP_000495	P00742	FA10_HUMAN	all cancers(43;0.0805)|Epithelial(84;0.231)		5	538	+	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_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	161			EGF-like 2.		Q14340	Missense_Mutation	SNP	ENST00000375559.3	37	c.481G>C	CCDS9530.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342990	0.24339	.	.	ENSG00000126218	ENST00000409306;ENST00000375551;ENST00000375559	D;D;D	0.97089	-4.24;-4.24;-4.24	4.68	1.79	0.24919	Epidermal growth factor-like (1);EGF-like region, conserved site (1);	0.590841	0.17875	N	0.159058	D	0.97228	0.9094	M	0.68593	2.085	0.18873	N	0.999985	D;D;D	0.76494	0.999;0.999;0.982	D;D;P	0.70935	0.96;0.971;0.869	D	0.91636	0.5323	10	0.62326	D	0.03	.	5.9459	0.19219	0.2392:0.1372:0.6236:0.0	.	161;161;161	B7ZBK1;Q5JVE8;P00742	.;.;FA10_HUMAN	R	161	ENSP00000387092:G161R;ENSP00000364701:G161R;ENSP00000364709:G161R	ENSP00000364701:G161R	G	+	1	0	F10	112843344	0.000000	0.05858	0.561000	0.28357	0.020000	0.10135	0.006000	0.13152	0.522000	0.28464	-0.369000	0.07265	GGC		0.682	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045841.3				4	46	0	0	0	0.000602214	0	4	46		
TEP1	7011	broad.mit.edu	37	14	20876196	20876196	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr14:20876196G>C	ENST00000262715.5	-	2	443	c.403C>G	c.(403-405)Cac>Gac	p.H135D	TEP1_ENST00000556935.1_Missense_Mutation_p.H135D	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	135					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TGCGTCATGTGAGATATCTGT	0.527																																						uc001vxe.2		NaN																	0				ovary(5)	5						c.(403-405)CAC>GAC		telomerase-associated protein 1							135.0	132.0	133.0					14																	20876196		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20876196G>C		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.403C>G	14.37:g.20876196G>C	ENSP00000262715:p.His135Asp					TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.H135D	p.H135D	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	2	443	-	all_cancers(95;0.00123)	all_lung(585;0.235)	135					A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.403C>G	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	G	6.976	0.550101	0.13374	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000556549	T;T;T	0.50813	0.9;0.73;1.42	4.86	2.04	0.26737	.	0.738886	0.12532	N	0.460739	T	0.30135	0.0755	L	0.27053	0.805	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.18304	-1.0341	10	0.31617	T	0.26	0.508	5.199	0.15254	0.1876:0.1815:0.6308:0.0	.	135;135	G3V5X7;Q99973	.;TEP1_HUMAN	D	135	ENSP00000262715:H135D;ENSP00000452574:H135D;ENSP00000452240:H135D	ENSP00000262715:H135D	H	-	1	0	TEP1	19946036	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	0.783000	0.26802	0.339000	0.23719	-0.143000	0.13931	CAC		0.527	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2		NM_007110		15	168	0	0	0	0.000219431	0	15	168		
THTPA	79178	broad.mit.edu	37	14	24028017	24028017	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr14:24028017G>A	ENST00000288014.6	+	2	1397	c.661G>A	c.(661-663)Gag>Aag	p.E221K	RP11-66N24.3_ENST00000555968.1_RNA|THTPA_ENST00000554970.1_Missense_Mutation_p.E131K|RP11-66N24.4_ENST00000555446.1_RNA|THTPA_ENST00000404535.3_Missense_Mutation_p.E221K|THTPA_ENST00000554789.1_3'UTR|RP11-66N24.4_ENST00000556354.1_RNA|RP11-66N24.4_ENST00000553985.1_RNA|THTPA_ENST00000556015.1_3'UTR			Q9BU02	THTPA_HUMAN	thiamine triphosphatase	221					dephosphorylation (GO:0016311)|generation of precursor metabolites and energy (GO:0006091)|small molecule metabolic process (GO:0044281)|thiamine diphosphate metabolic process (GO:0042357)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)|thiamin-triphosphatase activity (GO:0050333)			large_intestine(1)|prostate(2)	3	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00643)		GAGGCCACAGGAGACTGAAGA	0.572											OREG0022604	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001wkh.3		NaN																	0					0						c.(661-663)GAG>AAG		thiamine triphosphatase	Thiamine(DB00152)						72.0	68.0	69.0					14																	24028017		2203	4300	6503	SO:0001583	missense	79178				dephosphorylation|generation of precursor metabolites and energy|thiamine metabolic process	cytosol|nucleolus|soluble fraction	thiamin-triphosphatase activity	g.chr14:24028017G>A	AF432862	CCDS32053.1, CCDS58306.1, CCDS58307.1	14q11.2	2011-04-28					3.6.1.28		18987	protein-coding gene	gene with protein product		611612				11827967	Standard	NR_046051		Approved	THTPASE	uc001wkh.5	Q9BU02		ENST00000288014.6:c.661G>A	14.37:g.24028017G>A	ENSP00000288014:p.Glu221Lys		OREG0022604	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	768	THTPA_uc001wkb.3_RNA|THTPA_uc001wkg.3_Missense_Mutation_p.E221K|THTPA_uc010akr.2_RNA|THTPA_uc001wki.3_3'UTR|uc001wko.1_5'Flank	p.E221K	NM_001126339	NP_001119811	Q9BU02	THTPA_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	3	1031	+	all_cancers(95;0.000251)		221					D3DS50|G3V4J3	Missense_Mutation	SNP	ENST00000288014.6	37	c.661G>A	CCDS32053.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.330080	0.41297	.	.	ENSG00000157306	ENST00000404535;ENST00000288014;ENST00000554970	T;T	0.44083	0.93;0.93	6.03	4.96	0.65561	.	0.363846	0.23633	N	0.046112	T	0.23886	0.0578	N	0.08118	0	0.20764	N	0.999859	B	0.09022	0.002	B	0.09377	0.004	T	0.13683	-1.0500	10	0.62326	D	0.03	-18.7466	11.0333	0.47787	0.0957:0.0:0.9043:0.0	.	221	Q9BU02	THTPA_HUMAN	K	221;221;131	ENSP00000384580:E221K;ENSP00000288014:E221K	ENSP00000288014:E221K	E	+	1	0	THTPA	23097857	0.702000	0.27816	0.114000	0.21550	0.051000	0.14879	2.541000	0.45735	2.861000	0.98227	0.655000	0.94253	GAG		0.572	THTPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413800.2				5	46	0	0	0	0.000602214	0	5	46		
G2E3	55632	broad.mit.edu	37	14	31077178	31077178	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr14:31077178C>G	ENST00000206595.6	+	12	1557	c.1403C>G	c.(1402-1404)tCt>tGt	p.S468C	G2E3_ENST00000553504.1_Missense_Mutation_p.S498C|G2E3_ENST00000438909.2_Missense_Mutation_p.S422C	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	468	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						GGTTTCTTTTCTAAAACCTTG	0.378																																						uc001wqk.2		NaN																	0				ovary(2)|skin(1)	3						c.(1402-1404)TCT>TGT		G2/M-phase specific E3 ubiquitin ligase							114.0	105.0	108.0					14																	31077178		2203	4300	6503	SO:0001583	missense	55632				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr14:31077178C>G	AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"""Zinc fingers, PHD-type"""	20338	protein-coding gene	gene with protein product	"""PHD finger protein 7B"""	611299	"""KIAA1333"""	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.1403C>G	14.37:g.31077178C>G	ENSP00000206595:p.Ser468Cys					G2E3_uc010tpe.1_3'UTR|G2E3_uc010tpf.1_Missense_Mutation_p.S422C	p.S468C	NM_017769	NP_060239	Q7L622	G2E3_HUMAN			12	1557	+			468			HECT.		Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Missense_Mutation	SNP	ENST00000206595.6	37	c.1403C>G	CCDS9638.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.807653	0.90623	.	.	ENSG00000092140	ENST00000206595;ENST00000438909;ENST00000553504	T;T;T	0.60797	0.16;0.16;0.16	5.43	5.43	0.79202	HECT (2);	0.000000	0.85682	D	0.000000	T	0.76765	0.4033	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79017	-0.1975	10	0.87932	D	0	-22.1157	19.2391	0.93875	0.0:1.0:0.0:0.0	.	468	Q7L622	G2E3_HUMAN	C	468;422;498	ENSP00000206595:S468C;ENSP00000391068:S422C;ENSP00000451653:S498C	ENSP00000206595:S468C	S	+	2	0	G2E3	30146929	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.021000	0.76425	2.510000	0.84645	0.591000	0.81541	TCT		0.378	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276613.2		NM_017769		8	39	0	0	0	0.000157383	0	8	39		
ZFP36L1	677	broad.mit.edu	37	14	69262546	69262546	+	5'Flank	SNP	G	G	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr14:69262546G>C	ENST00000439696.2	-	0	0				ZFP36L1_ENST00000336440.3_5'Flank|ZFP36L1_ENST00000408913.2_Missense_Mutation_p.L156V	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1						gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AGGGAGCCGAGAGGAGGGAGC	0.602																																						uc001xkj.1		NaN																	0					0						c.(466-468)CTC>GTC		hypothetical protein LOC400223							42.0	51.0	48.0					14																	69262546		2185	4250	6435	SO:0001631	upstream_gene_variant	400223							g.chr14:69262546G>C	X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"""RING-type (C3HC4) zinc fingers"""	1107	protein-coding gene	gene with protein product		601064	"""zinc finger protein, C3H type, 36-like 1"", ""zinc finger protein 36, C3H type-like 1"""	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352			14.37:g.69262546G>C	Exception_encountered					ZFP36L1_uc001xkh.1_5'Flank|ZFP36L1_uc001xki.1_5'Flank	p.L156V	NM_207442	NP_997325				all cancers(60;0.002)|BRCA - Breast invasive adenocarcinoma(234;0.00204)|OV - Ovarian serous cystadenocarcinoma(108;0.0399)	1	645	-								Q13851	Missense_Mutation	SNP	ENST00000439696.2	37	c.466C>G	CCDS9791.1	.	.	.	.	.	.	.	.	.	.	G	6.467	0.454240	0.12283	.	.	ENSG00000185650	ENST00000408913	.	.	.	3.48	2.57	0.30868	.	.	.	.	.	T	0.40767	0.1130	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35051	-0.9804	5	0.87932	D	0	.	6.2192	0.20671	0.1107:0.1888:0.7005:0.0	.	.	.	.	V	156	.	ENSP00000386220:L156V	L	-	1	0	ZFP36L1	68332299	0.013000	0.17824	0.016000	0.15963	0.249000	0.25844	1.072000	0.30678	0.795000	0.33922	0.313000	0.20887	CTC		0.602	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413227.1				12	107	0	0	0	6.40141e-05	0	12	107		
PDIA3	2923	broad.mit.edu	37	15	44061801	44061801	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr15:44061801A>G	ENST00000300289.5	+	10	1371	c.1223A>G	c.(1222-1224)cAc>cGc	p.H408R	PDIA3_ENST00000538521.1_Missense_Mutation_p.H388R	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	408	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.	Contributes to redox potential value. {ECO:0000250}.			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)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein N-linked glycosylation via asparagine (GO:0018279)|protein retention in ER lumen (GO:0006621)|proteolysis (GO:0006508)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|phospholipase C activity (GO:0004629)|poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		TGGTGTGGTCACTGTAAGAAC	0.393																																						uc001zsu.2		NaN																	0				ovary(1)|skin(1)	2						c.(1222-1224)CAC>CGC		protein disulfide-isomerase A3 precursor							114.0	113.0	113.0					15																	44061801		2198	4296	6494	SO:0001583	missense	2923				cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr15:44061801A>G		CCDS10101.1	15q15	2009-11-20	2005-06-29	2005-03-03	ENSG00000167004	ENSG00000167004	5.3.4.1	"""Protein disulfide isomerases"""	4606	protein-coding gene	gene with protein product		602046	"""glucose regulated protein, 58kDa"", ""protein disulfide isomerase-associated 3"""	GRP58		8974399	Standard	NM_005313		Approved	P58, ERp61, ERp57, ERp60, GRP57, PI-PLC, HsT17083	uc001zsu.3	P30101	OTTHUMG00000044444	ENST00000300289.5:c.1223A>G	15.37:g.44061801A>G	ENSP00000300289:p.His408Arg					PDIA3_uc010bdp.2_Missense_Mutation_p.H388R|PDIA3_uc010ued.1_Missense_Mutation_p.H182R	p.H408R	NM_005313	NP_005304	P30101	PDIA3_HUMAN		GBM - Glioblastoma multiforme(94;9.48e-07)	10	1371	+		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	408			Thioredoxin 2.	Contributes to redox potential value (By similarity).	Q13453|Q14255|Q8IYF8|Q9UMU7	Missense_Mutation	SNP	ENST00000300289.5	37	c.1223A>G	CCDS10101.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.656167	0.88056	.	.	ENSG00000167004	ENST00000300289;ENST00000538826;ENST00000537673;ENST00000538521	T;T	0.24350	1.86;1.86	5.82	5.82	0.92795	Thioredoxin domain (1);Thioredoxin, conserved site (1);Thioredoxin-like fold (3);Disulphide isomerase (1);	0.000000	0.85682	D	0.000000	T	0.66406	0.2786	H	0.96889	3.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.79060	-0.1958	10	0.87932	D	0	.	16.19	0.81981	1.0:0.0:0.0:0.0	.	388;408	G5EA52;P30101	.;PDIA3_HUMAN	R	408;383;182;388	ENSP00000300289:H408R;ENSP00000438260:H388R	ENSP00000300289:H408R	H	+	2	0	PDIA3	41849093	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.339000	0.96797	2.225000	0.72522	0.460000	0.39030	CAC		0.393	PDIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103532.3		NM_005313		11	73	0	0	0	0.00010058	0	11	73		
MYEF2	50804	broad.mit.edu	37	15	48443319	48443319	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr15:48443319C>T	ENST00000324324.7	-	14	1635	c.1356G>A	c.(1354-1356)atG>atA	p.M452I	MYEF2_ENST00000267836.6_Intron	NM_016132.3	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	452	Gly-rich.				myotube differentiation (GO:0014902)|neuron differentiation (GO:0030182)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		CTACTGGACCCATGTTAGAAG	0.323																																						uc001zwi.3		NaN																	0				lung(2)|ovary(1)	3						c.(1354-1356)ATG>ATA		myelin expression factor 2							79.0	83.0	81.0					15																	48443319		2198	4293	6491	SO:0001583	missense	50804				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding	g.chr15:48443319C>T	AB037762	CCDS32230.1, CCDS73722.1	15q15.1	2013-07-16				ENSG00000104177		"""RNA binding motif (RRM) containing"""	17940	protein-coding gene	gene with protein product						10718198, 2601707	Standard	XM_005254422		Approved	MEF-2, FLJ11213, KIAA1341, HsT18564	uc001zwi.4	Q9P2K5		ENST00000324324.7:c.1356G>A	15.37:g.48443319C>T	ENSP00000316950:p.Met452Ile					MYEF2_uc001zwg.3_5'Flank|MYEF2_uc001zwh.3_Intron|MYEF2_uc001zwj.3_Intron	p.M452I	NM_016132	NP_057216	Q9P2K5	MYEF2_HUMAN		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)	14	1480	-		all_lung(180;0.00217)	452			Gly-rich.		A7MCZ9|C9J921|C9K0J4|Q6NUM5|Q7L388|Q7Z4B7|Q9H922|Q9NUQ1	Missense_Mutation	SNP	ENST00000324324.7	37	c.1356G>A	CCDS32230.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.132971	0.37630	.	.	ENSG00000104177	ENST00000324324	T	0.33865	1.39	5.55	5.55	0.83447	.	0.071710	0.85682	D	0.000000	T	0.30572	0.0769	L	0.44542	1.39	0.80722	D	1	B	0.13594	0.008	B	0.16722	0.016	T	0.04635	-1.0937	10	0.20046	T	0.44	-9.5108	13.1483	0.59474	0.0:0.9248:0.0:0.0752	.	452	Q9P2K5	MYEF2_HUMAN	I	452	ENSP00000316950:M452I	ENSP00000316950:M452I	M	-	3	0	MYEF2	46230611	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.126000	0.57937	2.894000	0.99253	0.655000	0.94253	ATG		0.323	MYEF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416909.2		NM_016132		5	26	0	0	0	0.000602214	0	5	26		
UNC13C	440279	broad.mit.edu	37	15	54586192	54586192	+	Silent	SNP	T	T	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr15:54586192T>C	ENST00000260323.11	+	10	3918	c.3918T>C	c.(3916-3918)gaT>gaC	p.D1306D	UNC13C_ENST00000545554.1_Silent_p.D1306D|UNC13C_ENST00000537900.1_Silent_p.D1304D	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1306	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AGGAGTCAGATGATTTTCTGG	0.368																																						uc002ack.2		NaN																	0				ovary(5)|pancreas(2)	7						c.(3916-3918)GAT>GAC		unc-13 homolog C							212.0	219.0	217.0					15																	54586192		1907	4130	6037	SO:0001819	synonymous_variant	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54586192T>C	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.3918T>C	15.37:g.54586192T>C						UNC13C_uc002acl.2_Silent_p.D136D	p.D1306D	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	9	3918	+			1306			C2 1.		Q0P613|Q8ND48|Q96NP3	Silent	SNP	ENST00000260323.11	37	c.3918T>C	CCDS45264.1																																																																																				0.368	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3		NM_173166		19	80	0	0	0	0.000175454	0	19	80		
HAGH	3029	broad.mit.edu	37	16	1859330	1859330	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr16:1859330C>A	ENST00000397356.3	-	9	1287	c.881G>T	c.(880-882)cGg>cTg	p.R294L	HAGH_ENST00000566709.1_3'UTR|HAGH_ENST00000567398.1_5'UTR|HAGH_ENST00000397353.2_Missense_Mutation_p.R246L|HAGH_ENST00000455446.2_3'UTR	NM_005326.4	NP_005317.2	Q16775	GLO2_HUMAN	hydroxyacylglutathione hydrolase	294					glutathione biosynthetic process (GO:0006750)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacylglutathione hydrolase activity (GO:0004416)|zinc ion binding (GO:0008270)			kidney(2)|lung(1)|ovary(1)|skin(1)	5		Hepatocellular(780;0.00335)			Glutathione(DB00143)	GCGCACGGCCCGCATGGTGGT	0.662																																					Pancreas(55;1048 1176 25227 40124 41333)	uc002cna.2		NaN																	0				ovary(1)	1						c.(880-882)CGG>CTG		hydroxyacylglutathione hydrolase isoform 1	Glutathione(DB00143)						118.0	104.0	109.0					16																	1859330		2199	4300	6499	SO:0001583	missense	3029				glutathione biosynthetic process	cytoplasm|mitochondrial matrix|mitochondrial matrix	hydroxyacylglutathione hydrolase activity|zinc ion binding	g.chr16:1859330C>A	X90999	CCDS32366.1, CCDS10447.2, CCDS66900.1	16p13.3	2012-10-02	2003-11-04		ENSG00000063854	ENSG00000063854	3.1.2.6		4805	protein-coding gene	gene with protein product		138760	"""hydroxyacyl glutathione hydrolase"""			3025077, 7327557	Standard	NM_001286249		Approved	GLO2, GLXII, HAGH1	uc002cna.3	Q16775	OTTHUMG00000128662	ENST00000397356.3:c.881G>T	16.37:g.1859330C>A	ENSP00000380514:p.Arg294Leu					HAGH_uc002cmz.2_Missense_Mutation_p.R246L|HAGH_uc010uvp.1_3'UTR|HAGH_uc002cnb.1_3'UTR	p.R294L	NM_005326	NP_005317	Q16775	GLO2_HUMAN			9	1288	-		Hepatocellular(780;0.00335)	294					A8K290|B4DP33|B4DRA7|E7EN93	Missense_Mutation	SNP	ENST00000397356.3	37	c.881G>T	CCDS10447.2	.	.	.	.	.	.	.	.	.	.	C	11.24	1.581211	0.28180	.	.	ENSG00000063854	ENST00000397356;ENST00000397353	D;D	0.95238	-3.65;-3.65	4.98	3.03	0.35002	.	0.154224	0.56097	D	0.000029	D	0.90707	0.7084	M	0.67517	2.055	0.80722	D	1	P	0.36378	0.55	B	0.25405	0.06	D	0.86704	0.1931	10	0.33141	T	0.24	-12.8509	10.7829	0.46388	0.0:0.8442:0.0:0.1558	.	294	Q16775	GLO2_HUMAN	L	294;246	ENSP00000380514:R294L;ENSP00000380511:R246L	ENSP00000380511:R246L	R	-	2	0	HAGH	1799331	0.793000	0.28825	0.945000	0.38365	0.003000	0.03518	5.326000	0.65875	0.630000	0.30394	-0.226000	0.12346	CGG		0.662	HAGH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250548.2		NM_005326		9	175	1	0	0.000442599	0.000442599	0.00505904	9	175		
TMC7	79905	broad.mit.edu	37	16	19058553	19058553	+	Silent	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr16:19058553C>T	ENST00000304381.5	+	12	1852	c.1722C>T	c.(1720-1722)atC>atT	p.I574I	TMC7_ENST00000421369.3_Silent_p.I464I|TMC7_ENST00000569532.1_Silent_p.I574I	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	574					ion transport (GO:0006811)	integral component of membrane (GO:0016021)		p.I574I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						AATTCATTATCATCTTCTATG	0.502																																						uc002dfq.2		NaN																	1	Substitution - coding silent(1)		endometrium(1)	skin(2)|ovary(1)	3						c.(1720-1722)ATC>ATT		transmembrane channel-like 7 isoform a							190.0	204.0	199.0					16																	19058553		2197	4300	6497	SO:0001819	synonymous_variant	79905					integral to membrane		g.chr16:19058553C>T	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.1722C>T	16.37:g.19058553C>T						TMC7_uc002dfp.2_Silent_p.I574I|TMC7_uc010vap.1_Silent_p.I464I	p.I574I	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN			12	1852	+			574			Helical; (Potential).		E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Silent	SNP	ENST00000304381.5	37	c.1722C>T	CCDS10573.1																																																																																				0.502	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3		NM_024847		39	314	0	0	0	0.000319135	0	39	314		
EEF2K	29904	broad.mit.edu	37	16	22269882	22269882	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr16:22269882C>T	ENST00000263026.5	+	10	1571	c.1097C>T	c.(1096-1098)tCt>tTt	p.S366F		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	366					insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		AGGACCCTCTCTGGGAGCCGG	0.547																																					NSCLC(195;1411 2157 20319 27471 51856)	uc002dki.2		NaN																	0				large_intestine(1)	1						c.(1096-1098)TCT>TTT		elongation factor-2 kinase							91.0	96.0	94.0					16																	22269882		2197	4300	6497	SO:0001583	missense	29904				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding	g.chr16:22269882C>T	U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.1097C>T	16.37:g.22269882C>T	ENSP00000263026:p.Ser366Phe					EEF2K_uc002dkh.2_RNA	p.S366F	NM_013302	NP_037434	O00418	EF2K_HUMAN		GBM - Glioblastoma multiforme(48;0.0223)	10	1582	+			366					Q8N588	Missense_Mutation	SNP	ENST00000263026.5	37	c.1097C>T	CCDS10604.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.200911	0.79015	.	.	ENSG00000103319	ENST00000263026	T	0.37752	1.18	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.30166	0.0756	L	0.34521	1.04	0.80722	D	1	P	0.39624	0.681	B	0.31547	0.132	T	0.10636	-1.0621	10	0.59425	D	0.04	-19.6757	20.0693	0.97712	0.0:1.0:0.0:0.0	.	366	O00418	EF2K_HUMAN	F	366	ENSP00000263026:S366F	ENSP00000263026:S366F	S	+	2	0	EEF2K	22177383	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	6.799000	0.75160	2.758000	0.94735	0.563000	0.77884	TCT		0.547	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211580.2		NM_013302		30	68	0	0	0	0.000279167	0	30	68		
ALDOA	226	broad.mit.edu	37	16	30080666	30080666	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr16:30080666G>A	ENST00000566897.1	+	9	1732	c.580G>A	c.(580-582)Gat>Aat	p.D194N	ALDOA_ENST00000412304.2_Missense_Mutation_p.D194N|ALDOA_ENST00000338110.5_Missense_Mutation_p.D194N|ALDOA_ENST00000564595.2_Missense_Mutation_p.D248N|ALDOA_ENST00000569545.1_Missense_Mutation_p.D194N|ALDOA_ENST00000564546.1_Missense_Mutation_p.D194N|ALDOA_ENST00000563060.2_Missense_Mutation_p.D194N|ALDOA_ENST00000395248.1_Missense_Mutation_p.D248N|ALDOA_ENST00000395240.3_Missense_Mutation_p.D198N|ALDOA_ENST00000569798.1_Missense_Mutation_p.D194N			P04075	ALDOA_HUMAN	aldolase A, fructose-bisphosphate	194					actin filament organization (GO:0007015)|ATP biosynthetic process (GO:0006754)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homotetramerization (GO:0051289)|regulation of cell shape (GO:0008360)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|membrane (GO:0016020)|nucleus (GO:0005634)|platelet alpha granule lumen (GO:0031093)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|tubulin binding (GO:0015631)			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						GATCCTCCCTGATGGGGACCA	0.602											OREG0023729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002dvw.2		NaN																	0				lung(1)	1						c.(580-582)GAT>AAT		fructose-bisphosphate aldolase A							117.0	102.0	107.0					16																	30080666		2197	4300	6497	SO:0001583	missense	226				actin filament organization|ATP biosynthetic process|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction	actin cytoskeleton|cytosol|extracellular vesicular exosome|I band|platelet alpha granule lumen	actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding	g.chr16:30080666G>A	X05236	CCDS10668.1, CCDS58450.1	16p11.2	2008-03-06			ENSG00000149925	ENSG00000149925	4.1.2.13		414	protein-coding gene	gene with protein product		103850				3570299	Standard	NM_000034		Approved		uc010veg.2	P04075	OTTHUMG00000132107	ENST00000566897.1:c.580G>A	16.37:g.30080666G>A	ENSP00000455724:p.Asp194Asn		OREG0023729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	814	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|ALDOA_uc002dvx.2_Missense_Mutation_p.D194N|ALDOA_uc002dvy.2_Missense_Mutation_p.D194N|ALDOA_uc002dvz.2_Missense_Mutation_p.D194N|ALDOA_uc002dwa.3_Missense_Mutation_p.D194N|ALDOA_uc002dwb.1_Missense_Mutation_p.D194N|ALDOA_uc002dwc.2_Missense_Mutation_p.D194N|ALDOA_uc010veg.1_Missense_Mutation_p.D248N|ALDOA_uc002dwd.2_Missense_Mutation_p.D198N	p.D194N	NM_184043	NP_908932	P04075	ALDOA_HUMAN			9	1708	+			194					B4DXI7|Q6FH76|Q6FI10|Q96B15|Q9BWD9|Q9UCN2	Missense_Mutation	SNP	ENST00000566897.1	37	c.580G>A	CCDS10668.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210414	0.79240	.	.	ENSG00000149925	ENST00000395248;ENST00000338110;ENST00000412304;ENST00000395240	D;D;D	0.87179	-2.22;-2.22;-2.22	5.72	5.72	0.89469	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.93141	0.7816	M	0.71036	2.16	0.80722	D	1	B;D;B	0.61697	0.042;0.99;0.252	B;D;B	0.79784	0.101;0.993;0.309	D	0.93022	0.6441	10	0.59425	D	0.04	.	18.6519	0.91433	0.0:0.0:1.0:0.0	.	53;76;194	A4UCT0;A4UCS9;P04075	.;.;ALDOA_HUMAN	N	248;194;194;194	ENSP00000378669:D248N;ENSP00000336927:D194N;ENSP00000400452:D194N	ENSP00000336927:D194N	D	+	1	0	ALDOA	29988167	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	9.670000	0.98625	2.704000	0.92352	0.655000	0.94253	GAT		0.602	ALDOA-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435360.1		NM_000034		12	88	0	0	0	0.000219431	0	12	88		
NETO2	81831	broad.mit.edu	37	16	47162452	47162452	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr16:47162452C>T	ENST00000562435.1	-	4	649	c.265G>A	c.(265-267)Gat>Aat	p.D89N	NETO2_ENST00000303155.5_Missense_Mutation_p.D89N	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	89	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				regulation of kainate selective glutamate receptor activity (GO:2000312)	kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)				breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				TAATGTTCATCAAAGGTCAAC	0.358										HNSCC(25;0.065)																												uc002eer.1		NaN																	0					0						c.(265-267)GAT>AAT		neuropilin- and tolloid-like protein 2							153.0	160.0	157.0					16																	47162452		2202	4300	6502	SO:0001583	missense	81831					integral to membrane	receptor activity	g.chr16:47162452C>T	AK001292	CCDS10727.1, CCDS58460.1	16q11.2	2008-08-04			ENSG00000171208	ENSG00000171208			14644	protein-coding gene	gene with protein product		607974				11943477	Standard	NM_018092		Approved	FLJ10430, NEOT2	uc002eer.2	Q8NC67	OTTHUMG00000133101	ENST00000562435.1:c.265G>A	16.37:g.47162452C>T	ENSP00000455169:p.Asp89Asn	HNSCC(25;0.065)				NETO2_uc010vgf.1_5'UTR|NETO2_uc002ees.1_Missense_Mutation_p.D89N	p.D89N	NM_018092	NP_060562	Q8NC67	NETO2_HUMAN			4	650	-		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)	89			Extracellular (Potential).|CUB 1.		J3KNF1|Q7Z381|Q8ND51|Q96SP4|Q9NVY8	Missense_Mutation	SNP	ENST00000562435.1	37	c.265G>A	CCDS10727.1	.	.	.	.	.	.	.	.	.	.	C	34	5.320458	0.95682	.	.	ENSG00000171208	ENST00000303155	T	0.17854	2.25	5.92	5.92	0.95590	CUB (5);	0.000000	0.85682	D	0.000000	T	0.34250	0.0891	L	0.31752	0.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.03034	-1.1080	10	0.72032	D	0.01	.	20.3206	0.98668	0.0:1.0:0.0:0.0	.	89;89	Q32NC3;Q8NC67	.;NETO2_HUMAN	N	89	ENSP00000306726:D89N	ENSP00000306726:D89N	D	-	1	0	NETO2	45719953	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	3.879000	0.56138	2.809000	0.96659	0.655000	0.94253	GAT		0.358	NETO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256766.2		NM_018092		14	125	0	0	0	0.000566183	0	14	125		
FHOD1	29109	broad.mit.edu	37	16	67263612	67263612	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr16:67263612G>A	ENST00000258201.4	-	22	3669	c.3422C>T	c.(3421-3423)aCg>aTg	p.T1141M	LRRC29_ENST00000409509.1_5'Flank|LRRC29_ENST00000393992.1_5'Flank|LRRC29_ENST00000462169.1_5'Flank|LRRC29_ENST00000341546.3_5'Flank|AC040160.1_ENST00000454102.2_5'Flank	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	1141					positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		ACTCTTCAACGTCCTTCTCAC	0.582																																						uc002esl.2		NaN																	0				breast(2)|ovary(1)	3						c.(3421-3423)ACG>ATG		formin homology 2 domain containing 1							103.0	96.0	99.0					16																	67263612		2198	4300	6498	SO:0001583	missense	29109				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	g.chr16:67263612G>A	AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.3422C>T	16.37:g.67263612G>A	ENSP00000258201:p.Thr1141Met					LRRC29_uc002ese.2_5'Flank|LRRC29_uc002esf.2_5'Flank|LRRC29_uc002esg.2_5'Flank|LRRC29_uc010vjg.1_5'Flank|FHOD1_uc002esk.2_Missense_Mutation_p.T200M|FHOD1_uc010ced.2_Missense_Mutation_p.T948M	p.T1141M	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	22	3534	-		Ovarian(137;0.0563)	1141					Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP	ENST00000258201.4	37	c.3422C>T	CCDS10834.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.254260	0.39896	.	.	ENSG00000135723	ENST00000258201	T	0.56275	0.47	5.46	3.5	0.40072	.	0.058383	0.85682	D	0.000000	T	0.71879	0.3392	M	0.86268	2.805	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.73927	-0.3828	10	0.87932	D	0	.	9.2721	0.37677	0.0753:0.0:0.7791:0.1456	.	1141	Q9Y613	FHOD1_HUMAN	M	1141	ENSP00000258201:T1141M	ENSP00000258201:T1141M	T	-	2	0	FHOD1	65821113	1.000000	0.71417	0.428000	0.26697	0.004000	0.04260	6.848000	0.75409	0.857000	0.35407	-0.182000	0.12963	ACG		0.582	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2				18	108	0	0	0	0.000958276	0	18	108		
MBTPS1	8720	broad.mit.edu	37	16	84096944	84096944	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr16:84096944G>C	ENST00000343411.3	-	19	3033	c.2538C>G	c.(2536-2538)gaC>gaG	p.D846E		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	846					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AGCAATTGGAGTCCCCATACA	0.478											OREG0023981	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002fhi.2		NaN																	0				ovary(2)	2						c.(2536-2538)GAC>GAG		membrane-bound transcription factor site-1							120.0	105.0	110.0					16																	84096944		2200	4300	6500	SO:0001583	missense	8720				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84096944G>C	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.2538C>G	16.37:g.84096944G>C	ENSP00000344223:p.Asp846Glu		OREG0023981	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1226	MBTPS1_uc002fhh.2_Missense_Mutation_p.D350E	p.D846E	NM_003791	NP_003782	Q14703	MBTP1_HUMAN			19	3040	-			846			Lumenal (Potential).		A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	ENST00000343411.3	37	c.2538C>G	CCDS10941.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.938279	0.73557	.	.	ENSG00000140943	ENST00000343411;ENST00000347334	T	0.23348	1.91	5.44	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.55114	0.1900	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64045	-0.6499	10	0.87932	D	0	-38.7419	14.4239	0.67202	0.0713:0.0:0.9286:0.0	.	846	Q14703	MBTP1_HUMAN	E	846;291	ENSP00000344223:D846E	ENSP00000344223:D846E	D	-	3	2	MBTPS1	82654445	1.000000	0.71417	1.000000	0.80357	0.628000	0.37860	1.964000	0.40462	1.445000	0.47624	-0.339000	0.08088	GAC		0.478	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2		NM_003791		5	140	0	0	0	3.59834e-05	0	5	140		
BANP	54971	broad.mit.edu	37	16	88039762	88039762	+	Missense_Mutation	SNP	C	C	G	rs543231944	byFrequency	TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr16:88039762C>G	ENST00000393207.1	+	6	743	c.522C>G	c.(520-522)caC>caG	p.H174Q	BANP_ENST00000286122.7_Missense_Mutation_p.H174Q|BANP_ENST00000479780.2_Missense_Mutation_p.H143Q|BANP_ENST00000355163.5_Missense_Mutation_p.H149Q|BANP_ENST00000355022.4_Missense_Mutation_p.H143Q|BANP_ENST00000393208.2_Missense_Mutation_p.H143Q|BANP_ENST00000538234.1_Missense_Mutation_p.H182Q	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	174	Interaction with CUX1 and HDAC1. {ECO:0000250}.				cell cycle (GO:0007049)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of protein catabolic process (GO:0042177)|protein localization to nucleus (GO:0034504)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		ACAGCCACCACGAGGACGGGG	0.627																																						uc002fkr.2		NaN																	0					0						c.(517-519)CAC>CAG		BTG3 associated nuclear protein isoform b							86.0	85.0	85.0					16																	88039762		2198	4300	6498	SO:0001583	missense	54971				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr16:88039762C>G	AK094158	CCDS10966.2, CCDS42215.1, CCDS54052.1, CCDS54053.1, CCDS54054.1	16q24	2012-11-22			ENSG00000172530	ENSG00000172530		"""BEN domain containing"""	13450	protein-coding gene	gene with protein product	"""BEN domain containing 1"""	611564				10940556, 10950932	Standard	NM_017869		Approved	SMARBP1, SMAR1, FLJ20538, DKFZp761H172, FLJ10177, BEND1	uc010vow.2	Q8N9N5	OTTHUMG00000137678	ENST00000393207.1:c.522C>G	16.37:g.88039762C>G	ENSP00000376902:p.His174Gln					BANP_uc002fkp.2_Missense_Mutation_p.H143Q|BANP_uc002fkq.2_Missense_Mutation_p.H143Q|BANP_uc010vow.1_Missense_Mutation_p.H181Q|BANP_uc002fks.3_Missense_Mutation_p.H142Q|BANP_uc002fko.1_Missense_Mutation_p.H79Q|BANP_uc010vov.1_Missense_Mutation_p.H148Q	p.H173Q	NM_079837	NP_524576	Q8N9N5	BANP_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.00551)	6	743	+			174			Interaction with CUX1 and HDAC1 (By similarity).		A8MU25|A8MX25|B2RCF7|B4DNJ9|F5GZM0|Q96GJ7|Q9NWY1	Missense_Mutation	SNP	ENST00000393207.1	37	c.519C>G	CCDS54054.1	.	.	.	.	.	.	.	.	.	.	C	9.802	1.180696	0.21787	.	.	ENSG00000172530	ENST00000439677;ENST00000286122;ENST00000355163;ENST00000289484;ENST00000479780;ENST00000393208;ENST00000540932;ENST00000355022;ENST00000538234;ENST00000393207	T;T;T;T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0;2.0;2.0;2.0	5.43	-8.25	0.01025	.	0.140566	0.47852	D	0.000209	T	0.09247	0.0228	N	0.08118	0	0.20638	N	0.999872	B;B;B;B;B;B	0.31625	0.094;0.139;0.006;0.035;0.039;0.332	B;B;B;B;B;B	0.30179	0.056;0.045;0.004;0.038;0.036;0.112	T	0.01909	-1.1249	10	0.46703	T	0.11	.	18.0907	0.89475	0.0:0.3086:0.0:0.6914	.	182;149;143;174;143;143	B4DE54;B4DNJ9;B2RCF7;Q8N9N5;Q8N9N5-2;Q8N9N5-4	.;.;.;BANP_HUMAN;.;.	Q	149;174;149;139;143;143;143;143;182;174	ENSP00000411479:H149Q;ENSP00000286122:H174Q;ENSP00000347290:H149Q;ENSP00000432508:H143Q;ENSP00000376903:H143Q;ENSP00000347125:H143Q;ENSP00000444352:H182Q;ENSP00000376902:H174Q	ENSP00000286122:H174Q	H	+	3	2	BANP	86597263	0.003000	0.15002	0.393000	0.26258	0.416000	0.31233	-1.792000	0.01756	-1.905000	0.01090	-1.731000	0.00696	CAC		0.627	BANP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269166.1		NM_017869		14	123	0	0	0	0.00074312	0	14	123		
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs121912651		TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R248W	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2	R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO680N_OESOPHAGUS)|R248W(SW837_LARGE_INTESTINE)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(RD_SOFT_TISSUE)|R248W(VCAP_PROSTATE)|R248W(JIMT1_BREAST)|R248W(GCT_SOFT_TISSUE)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(786O_KIDNEY)|R248W(COLO320_LARGE_INTESTINE)|R248W(LXF289_LUNG)|R248W(LUDLU1_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(HCC2157_BREAST)	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		617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	p.R248Q(516)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM010465|CM900211	TP53	M	rs121912651	c.(742-744)CGG>TGG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							151.0	112.0	125.0					17																	7577539		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577539G>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.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.2_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W	p.R248W	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	936	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (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.742C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	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	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		24	79	0	0	0	0.000878237	0	24	79		
KDM6B	23135	broad.mit.edu	37	17	7749991	7749991	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr17:7749991C>T	ENST00000448097.2	+	8	975	c.644C>T	c.(643-645)tCa>tTa	p.S215L	KDM6B_ENST00000254846.5_Missense_Mutation_p.S215L			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	215	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GCAGCACTCTCAGGCCCCTCA	0.637																																						uc002giw.1		NaN																	0				central_nervous_system(1)|pancreas(1)	2						c.(643-645)TCA>TTA		lysine (K)-specific demethylase 6B							52.0	58.0	56.0					17																	7749991		2203	4299	6502	SO:0001583	missense	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7749991C>T	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.644C>T	17.37:g.7749991C>T	ENSP00000412513:p.Ser215Leu					KDM6B_uc002gix.2_5'Flank	p.S215L	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN			8	1020	+			215			Pro-rich.		C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37	c.644C>T		.	.	.	.	.	.	.	.	.	.	C	14.97	2.693788	0.48202	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.31247	1.5;1.5	5.14	5.14	0.70334	.	0.962306	0.08554	N	0.928599	T	0.20618	0.0496	N	0.08118	0	0.37917	D	0.931571	B	0.26809	0.16	B	0.24701	0.055	T	0.11792	-1.0573	10	0.24483	T	0.36	-7.1063	16.476	0.84132	0.0:1.0:0.0:0.0	.	215	O15054-1	.	L	215	ENSP00000254846:S215L;ENSP00000412513:S215L	ENSP00000254846:S215L	S	+	2	0	KDM6B	7690716	0.798000	0.28890	1.000000	0.80357	0.984000	0.73092	4.519000	0.60517	2.571000	0.86741	0.561000	0.74099	TCA		0.637	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1		XM_043272		15	86	0	0	0	0.000308642	0	15	86		
MYH13	8735	broad.mit.edu	37	17	10248880	10248880	+	Silent	SNP	C	C	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr17:10248880C>A	ENST00000418404.3	-	13	1480	c.1317G>T	c.(1315-1317)ctG>ctT	p.L439L	MYH13_ENST00000252172.4_Silent_p.L439L			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	439	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGACCATCCACAGGAACATCT	0.517																																						uc002gmk.1		NaN																	0				ovary(4)|skin(2)	6						c.(1315-1317)CTG>CTT		myosin, heavy polypeptide 13, skeletal muscle							173.0	163.0	166.0					17																	10248880		2203	4298	6501	SO:0001819	synonymous_variant	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10248880C>A	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.1317G>T	17.37:g.10248880C>A						MYH13_uc010vvf.1_Silent_p.L114L	p.L439L	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			14	1407	-			439			Myosin head-like.		O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	37	c.1317G>T	CCDS45613.1																																																																																				0.517	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1		NM_003802		6	137	1	0	1.12685e-05	0.000274275	0.000130383	6	137		
ADPRM	56985	broad.mit.edu	37	17	10614321	10614321	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr17:10614321G>A	ENST00000379774.4	+	4	980	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	ADPRM_ENST00000609540.1_Silent_p.*295*	NM_020233.4	NP_064618.3	Q3LIE5	ADPRM_HUMAN	ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent	297							ADP-ribose diphosphatase activity (GO:0047631)|CDP-glycerol diphosphatase activity (GO:0047734)|metal ion binding (GO:0046872)										CGTCAACCTAGAAGGAGTTAT	0.463																																						uc002gmt.2		NaN																	0					0						c.(889-891)GAA>AAA		ADP-ribose/CDP-alcohol pyrophosphatase							172.0	149.0	157.0					17																	10614321		2203	4300	6503	SO:0001583	missense	56985						ADP-ribose diphosphatase activity|CDP-glycerol diphosphatase activity|metal ion binding	g.chr17:10614321G>A	BC070155	CCDS11159.2	17p13.1	2012-07-20	2012-07-20	2012-07-20	ENSG00000170222	ENSG00000170222	3.6.1.13, 3.6.1.16, 3.6.1.53		30925	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 48"""	C17orf48		18352857	Standard	XM_005256738		Approved	MDS006	uc002gmt.3	Q3LIE5	OTTHUMG00000130366	ENST00000379774.4:c.889G>A	17.37:g.10614321G>A	ENSP00000369099:p.Glu297Lys					C17orf48_uc002gmu.2_RNA|C17orf48_uc002gmv.2_RNA	p.E297K	NM_020233	NP_064618	Q3LIE5	ADPRM_HUMAN			4	964	+			297					A8K9B4|D3DTS4|Q9BVD4|Q9NRU8	Missense_Mutation	SNP	ENST00000379774.4	37	c.889G>A	CCDS11159.2	.	.	.	.	.	.	.	.	.	.	G	19.90	3.911938	0.72983	.	.	ENSG00000170222	ENST00000379774	D	0.94232	-3.38	5.82	4.85	0.62838	.	0.311466	0.36815	N	0.002382	D	0.93213	0.7838	L	0.46741	1.465	0.80722	D	1	D	0.62365	0.991	P	0.60173	0.87	D	0.90457	0.4443	10	0.17369	T	0.5	-7.3668	10.7033	0.45939	0.1467:0.0:0.8533:0.0	.	297	Q3LIE5	ADPRM_HUMAN	K	297	ENSP00000369099:E297K	ENSP00000369099:E297K	E	+	1	0	C17orf48	10555046	1.000000	0.71417	0.870000	0.34147	0.679000	0.39708	6.368000	0.73104	1.483000	0.48342	0.591000	0.81541	GAA		0.463	ADPRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252732.2		NM_020233		8	51	0	0	0	0.000274275	0	8	51		
NCOR1	9611	broad.mit.edu	37	17	15989705	15989705	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr17:15989705C>G	ENST00000268712.3	-	23	3325	c.3068G>C	c.(3067-3069)cGg>cCg	p.R1023P	NCOR1_ENST00000395851.1_Missense_Mutation_p.R1039P	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1023	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)		TGTCGGAAGCCGAACGCCTTC	0.458																																						uc002gpo.2		NaN																	0				upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5						c.(3067-3069)CGG>CCG		nuclear receptor co-repressor 1							100.0	100.0	100.0					17																	15989705		2203	4300	6503	SO:0001583	missense	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.chr17:15989705C>G	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.3068G>C	17.37:g.15989705C>G	ENSP00000268712:p.Arg1023Pro					NCOR1_uc002gpn.2_Missense_Mutation_p.R1039P|NCOR1_uc002gpp.1_Missense_Mutation_p.R930P|NCOR1_uc002gpq.1_Missense_Mutation_p.R115P	p.R1023P	NM_006311	NP_006302	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	23	3308	-			1023			Interaction with ETO.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.3068G>C	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.091068	0.76756	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849	D;D	0.88046	-2.33;-2.33	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.88969	0.6582	N	0.25286	0.73	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.85130	0.995;0.992;0.997	D	0.86002	0.1495	10	0.21540	T	0.41	-8.5661	19.1272	0.93390	0.0:1.0:0.0:0.0	.	930;1023;1039	Q7Z516;O75376;O75376-2	.;NCOR1_HUMAN;.	P	1023;1039;930	ENSP00000268712:R1023P;ENSP00000379192:R1039P	ENSP00000268712:R1023P	R	-	2	0	NCOR1	15930430	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.065000	0.71176	2.769000	0.95229	0.580000	0.79431	CGG		0.458	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5		NM_006311		7	37	0	0	0	8.12818e-05	0	7	37		
THRA	7067	broad.mit.edu	37	17	38244572	38244572	+	Silent	SNP	C	C	T	rs371948181		TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr17:38244572C>T	ENST00000264637.4	+	8	1381	c.801C>T	c.(799-801)taC>taT	p.Y267Y	THRA_ENST00000546243.1_Silent_p.Y267Y|THRA_ENST00000584985.1_Silent_p.Y267Y|THRA_ENST00000394121.4_Silent_p.Y267Y|THRA_ENST00000450525.2_Silent_p.Y267Y	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	267	Ligand-binding.				cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	CTGTCCGCTACGACCCTGAGA	0.637																																						uc002htw.2		NaN																	0					0						c.(799-801)TAC>TAT		thyroid hormone receptor, alpha isoform 2	Levothyroxine(DB00451)|Liothyronine(DB00279)		,,,	0,4406		0,0,2203	99.0	87.0	91.0		801,801,801,801	-1.2	1.0	17		91	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	THRA	NM_001190918.1,NM_001190919.1,NM_003250.5,NM_199334.3	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	267/452,267/491,267/491,267/411	38244572	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7067				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr17:38244572C>T	J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"""Nuclear hormone receptors"""	11796	protein-coding gene	gene with protein product		190120	"""thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)"", ""thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"""	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.801C>T	17.37:g.38244572C>T						THRA_uc010cwp.1_Silent_p.Y267Y|THRA_uc002htv.2_Silent_p.Y267Y|THRA_uc002htx.2_Silent_p.Y267Y	p.Y267Y	NM_003250	NP_003241	P10827	THA_HUMAN			8	1284	+	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)	267			Ligand-binding.		A8K3B5|P21205|Q8N6A1|Q96H73	Silent	SNP	ENST00000264637.4	37	c.801C>T	CCDS11360.1																																																																																				0.637	THRA-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257160.2				12	87	0	0	0	0.000219431	0	12	87		
NBR1	4077	broad.mit.edu	37	17	41331419	41331419	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr17:41331419C>G	ENST00000422280.1	+	4	633	c.174C>G	c.(172-174)atC>atG	p.I58M	NBR1_ENST00000341165.6_Missense_Mutation_p.I58M|NBR1_ENST00000590996.1_Missense_Mutation_p.I58M|NBR1_ENST00000589872.1_Missense_Mutation_p.I58M|NBR1_ENST00000542611.1_Missense_Mutation_p.I37M|NBR1_ENST00000389312.4_Intron	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	58	OPR.				macroautophagy (GO:0016236)|negative regulation of osteoblast differentiation (GO:0045668)|protein oligomerization (GO:0051259)|regulation of bone mineralization (GO:0030500)|regulation of stress-activated MAPK cascade (GO:0032872)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	mitogen-activated protein kinase binding (GO:0051019)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		AGGTATCCATCAACAGTCAAG	0.378																																						uc010czd.2		NaN																	0				skin(1)	1						c.(172-174)ATC>ATG		neighbor of BRCA1 gene 1							103.0	97.0	99.0					17																	41331419		1836	4089	5925	SO:0001583	missense	4077				macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding	g.chr17:41331419C>G	X76952	CCDS45694.1	17q21.31	2008-02-01	2005-02-15	2005-02-16		ENSG00000188554			6746	protein-coding gene	gene with protein product		166945	"""membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)"""	M17S2		8069304	Standard	XM_006721903		Approved	CA125, KIAA0049, 1A1-3B	uc010whv.2	Q14596		ENST00000422280.1:c.174C>G	17.37:g.41331419C>G	ENSP00000411250:p.Ile58Met					NBR1_uc010diz.2_Missense_Mutation_p.I58M|NBR1_uc010whu.1_Missense_Mutation_p.I58M|NBR1_uc010whv.1_Missense_Mutation_p.I58M|NBR1_uc010whw.1_Missense_Mutation_p.I37M	p.I58M	NM_031862	NP_114068	Q14596	NBR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0934)	4	314	+		Breast(137;0.00086)	58			OPR.		Q13173|Q15026|Q5J7Q8|Q96GB6|Q9NRF7	Missense_Mutation	SNP	ENST00000422280.1	37	c.174C>G	CCDS45694.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.220939	0.58560	.	.	ENSG00000188554	ENST00000422280;ENST00000542611;ENST00000341165	T;T;T	0.55234	1.38;0.53;1.38	4.96	3.98	0.46160	Phox/Bem1p (2);	.	.	.	.	T	0.60051	0.2239	L	0.48642	1.525	0.80722	D	1	D;D;D	0.69078	0.99;0.997;0.996	P;D;D	0.71870	0.809;0.975;0.964	T	0.59490	-0.7445	9	0.48119	T	0.1	.	7.0572	0.25106	0.0:0.7336:0.1745:0.092	.	37;58;58	B7Z5R6;Q14596-2;Q14596	.;.;NBR1_HUMAN	M	58;37;58	ENSP00000411250:I58M;ENSP00000437545:I37M;ENSP00000343479:I58M	ENSP00000343479:I58M	I	+	3	3	NBR1	38584945	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.351000	0.20096	1.449000	0.47699	0.655000	0.94253	ATC		0.378	NBR1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453461.1		NM_005899		4	47	0	0	0	0.000602214	0	4	47		
TEX2	55852	broad.mit.edu	37	17	62254697	62254697	+	Silent	SNP	G	G	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr17:62254697G>T	ENST00000583097.1	-	6	2731	c.2559C>A	c.(2557-2559)ctC>ctA	p.L853L	TEX2_ENST00000258991.3_Silent_p.L860L|TEX2_ENST00000584379.1_Silent_p.L853L			Q8IWB9	TEX2_HUMAN	testis expressed 2	853					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		TTATTTTGCTGAGTTTCATTT	0.378																																						uc002jec.2		NaN																	0				ovary(1)	1						c.(2557-2559)CTC>CTA		testis expressed sequence 2							175.0	173.0	174.0					17																	62254697		2203	4300	6503	SO:0001819	synonymous_variant	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62254697G>T	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"""transmembrane protein 96"""		"""testis expressed sequence 2"""			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.2559C>A	17.37:g.62254697G>T						TEX2_uc002jed.2_Silent_p.L860L|TEX2_uc002jee.2_Silent_p.L853L	p.L853L	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	6	2732	-			853					Q6AHZ5|Q8N3L0|Q9C0C5	Silent	SNP	ENST00000583097.1	37	c.2559C>A																																																																																					0.378	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1		NM_018469		29	168	1	0	2.12542e-12	0.000147802	2.55321e-11	29	168		
SDK2	54549	broad.mit.edu	37	17	71394562	71394562	+	Missense_Mutation	SNP	C	C	T	rs552313285		TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr17:71394562C>T	ENST00000392650.3	-	23	3100	c.3100G>A	c.(3100-3102)Gtg>Atg	p.V1034M	SDK2_ENST00000388726.3_Missense_Mutation_p.V1034M	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1034	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TCCCCAACCACGCCTACCTGG	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		15115	0.0		0.0	False		,,,				2504	0.001					uc010dfm.2		NaN																	0				ovary(2)	2						c.(3100-3102)GTG>ATG		sidekick 2							83.0	75.0	78.0					17																	71394562		2203	4300	6503	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71394562C>T	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.3100G>A	17.37:g.71394562C>T	ENSP00000376421:p.Val1034Met					SDK2_uc002jjt.3_Missense_Mutation_p.V193M|SDK2_uc010dfn.2_Missense_Mutation_p.V713M	p.V1034M	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN			23	3100	-			1034			Fibronectin type-III 5.|Extracellular (Potential).		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.3100G>A	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	C	6.094	0.385668	0.11524	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	T;T;T	0.57273	0.41;0.41;0.41	4.55	0.237	0.15475	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.508381	0.19376	N	0.115784	T	0.43678	0.1258	L	0.56769	1.78	0.09310	N	1	B;B;B	0.17038	0.019;0.02;0.016	B;B;B	0.24974	0.034;0.057;0.034	T	0.36553	-0.9743	10	0.42905	T	0.14	.	5.536	0.17011	0.0:0.3886:0.1797:0.4317	.	1034;1034;1034	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	M	658;1034;1034;210;1034	ENSP00000376421:V1034M;ENSP00000373378:V1034M;ENSP00000407098:V210M	ENSP00000324967:V1034M	V	-	1	0	SDK2	68906157	0.000000	0.05858	0.950000	0.38849	0.355000	0.29361	0.390000	0.20768	-0.056000	0.13221	0.462000	0.41574	GTG		0.627	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2		NM_019064		10	110	0	0	0	0.000442599	0	10	110		
RNF213	57674	broad.mit.edu	37	17	78319411	78319411	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr17:78319411A>G	ENST00000582970.1	+	29	7419	c.7276A>G	c.(7276-7278)Aaa>Gaa	p.K2426E	RNF213_ENST00000336301.6_Missense_Mutation_p.K499E|RNF213_ENST00000508628.2_Missense_Mutation_p.K2475E	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2426					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGGCTGTGGGAAAACCAGGCT	0.502																																						uc002jyh.1		NaN																	0				ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21						c.(1495-1497)AAA>GAA		ring finger protein 213							85.0	83.0	83.0					17																	78319411		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78319411A>G	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.7276A>G	17.37:g.78319411A>G	ENSP00000464087:p.Lys2426Glu						p.K499E	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		4	1718	+	all_neural(118;0.0538)		Error:Variant_position_missing_in_Q9HCF4_after_alignment					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.1495A>G	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	A	16.11	3.031113	0.54790	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	D	0.92647	-3.08	5.12	5.12	0.69794	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.97120	0.9059	H	0.94808	3.585	0.41963	D	0.990711	D	0.89917	1.0	D	0.91635	0.999	D	0.98472	1.0601	10	0.87932	D	0	.	15.3747	0.74596	1.0:0.0:0.0:0.0	.	499	Q63HN8	RN213_HUMAN	E	2426;2475;499	ENSP00000338218:K499E	ENSP00000338218:K499E	K	+	1	0	RNF213	75934006	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	8.953000	0.93041	2.274000	0.75844	0.533000	0.62120	AAA		0.502	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1		NM_020914		22	155	0	0	0	0.000586117	0	22	155		
GALR1	2587	broad.mit.edu	37	18	74963033	74963033	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr18:74963033T>C	ENST00000299727.3	+	1	529	c.529T>C	c.(529-531)Ttc>Ctc	p.F177L		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	177					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|digestion (GO:0007586)|negative regulation of adenylate cyclase activity (GO:0007194)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		CCAGGGCCTCTTCCACCCGCG	0.677																																						uc002lms.3		NaN																	0				lung(1)	1						c.(529-531)TTC>CTC		galanin receptor 1							46.0	47.0	47.0					18																	74963033		2203	4299	6502	SO:0001583	missense	2587				digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity	g.chr18:74963033T>C	U90658	CCDS12012.1	18q23	2012-08-08			ENSG00000166573	ENSG00000166573		"""GPCR / Class A : Galanin receptors"""	4132	protein-coding gene	gene with protein product		600377		GALNR1, GALNR		7524088	Standard	NM_001480		Approved		uc002lms.4	P47211	OTTHUMG00000132875	ENST00000299727.3:c.529T>C	18.37:g.74963033T>C	ENSP00000299727:p.Phe177Leu						p.F177L	NM_001480	NP_001471	P47211	GALR1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)	1	1026	+		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)	177			Extracellular (Potential).		Q4VBL7	Missense_Mutation	SNP	ENST00000299727.3	37	c.529T>C	CCDS12012.1	.	.	.	.	.	.	.	.	.	.	T	11.16	1.555932	0.27827	.	.	ENSG00000166573	ENST00000299727	T	0.36157	1.27	4.59	3.33	0.38152	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37095	U	0.002258	T	0.18964	0.0455	N	0.13043	0.29	0.44380	D	0.997284	B	0.14438	0.01	B	0.17979	0.02	T	0.05683	-1.0870	10	0.11182	T	0.66	.	10.4635	0.44594	0.0:0.0:0.3761:0.6239	.	177	P47211	GALR1_HUMAN	L	177	ENSP00000299727:F177L	ENSP00000299727:F177L	F	+	1	0	GALR1	73092021	1.000000	0.71417	0.992000	0.48379	0.340000	0.28889	1.744000	0.38268	1.709000	0.51313	0.482000	0.46254	TTC		0.677	GALR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256362.1				18	54	0	0	0	0.000132079	0	18	54		
CD79A	973	broad.mit.edu	37	19	42383361	42383361	+	Splice_Site	SNP	T	T	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr19:42383361T>G	ENST00000221972.3	+	2	564		c.e2+2		CD79A_ENST00000444740.2_Intron	NM_001783.3|NM_021601.3	NP_001774.1|NP_067612.1	P11912	CD79A_HUMAN	CD79a molecule, immunoglobulin-associated alpha						B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)	B cell receptor complex (GO:0019815)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						GCGTGCGCCGTGAGTGGCCCA	0.592			"""O, S"""		DLBCL																																	uc002orv.2		NaN		Dom	yes		19	19q13.2	973	O|S	"""CD79a molecule, immunoglobulin-associated alpha"""			L			DLBCL		0				ovary(2)|pancreas(1)	3						c.e2+2		CD79A antigen isoform 1 precursor							35.0	31.0	32.0					19																	42383361		2203	4300	6503	SO:0001630	splice_region_variant	973				B cell differentiation|B cell proliferation|B cell receptor signaling pathway	B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body	transmembrane receptor activity	g.chr19:42383361T>G	M80462	CCDS12589.1, CCDS46088.1	19q13.2	2014-09-17	2006-03-28					"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1698	protein-coding gene	gene with protein product		112205	"""CD79A antigen (immunoglobulin-associated alpha)"""	IGA		1538135	Standard	NM_001783		Approved	MB-1	uc002orv.3	P11912		ENST00000221972.3:c.379+2T>G	19.37:g.42383361T>G						CD79A_uc002oru.2_Intron	p.Q127_splice	NM_001783	NP_001774	P11912	CD79A_HUMAN			2	564	+								A0N775|Q53FB8	Splice_Site	SNP	ENST00000221972.3	37	c.379_splice	CCDS12589.1	.	.	.	.	.	.	.	.	.	.	t	18.94	3.729720	0.69074	.	.	ENSG00000105369	ENST00000221972	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4418	0.50100	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CD79A	47075201	1.000000	0.71417	0.997000	0.53966	0.840000	0.47671	4.311000	0.59147	2.270000	0.75569	0.529000	0.55759	.		0.592	CD79A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463058.1			Intron	10	15	0	0	0	0.00010058	0	10	15		
PEG3	5178	broad.mit.edu	37	19	57328456	57328456	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr19:57328456A>G	ENST00000326441.9	-	10	1717	c.1354T>C	c.(1354-1356)Tat>Cat	p.Y452H	ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.Y452H|PEG3_ENST00000593695.1_Missense_Mutation_p.Y326H|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.Y328H|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	452					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCACATACATATGGCATTGCC	0.488																																						uc002qnu.2		NaN																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(1354-1356)TAT>CAT		paternally expressed 3 isoform 1							192.0	170.0	177.0					19																	57328456		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57328456A>G	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1354T>C	19.37:g.57328456A>G	ENSP00000326581:p.Tyr452His					ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.Y423H|PEG3_uc002qnv.2_Missense_Mutation_p.Y452H|PEG3_uc002qnw.2_Missense_Mutation_p.Y328H|PEG3_uc002qnx.2_Missense_Mutation_p.Y326H|PEG3_uc010etr.2_Missense_Mutation_p.Y452H	p.Y452H	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	1705	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	452			C2H2-type 1.		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.1354T>C	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	A	15.52	2.858996	0.51376	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.26957	1.7;1.7	4.7	4.7	0.59300	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42053	D	0.000763	T	0.43077	0.1231	L	0.52759	1.655	.	.	.	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.51818	-0.8657	9	0.42905	T	0.14	-35.7047	12.4261	0.55548	1.0:0.0:0.0:0.0	.	328;452;387	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	H	452;452;422	ENSP00000326581:Y452H;ENSP00000403051:Y452H	ENSP00000292074:Y422H	Y	-	1	0	ZIM2	62020268	0.945000	0.32115	0.587000	0.28692	0.190000	0.23558	5.676000	0.68131	2.098000	0.63641	0.528000	0.53228	TAT		0.488	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2				6	87	0	0	0	0.000157383	0	6	87		
ALK	238	broad.mit.edu	37	2	29917721	29917721	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr2:29917721G>C	ENST00000389048.3	-	3	1853	c.947C>G	c.(946-948)cCc>cGc	p.P316R	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	316	MAM 1. {ECO:0000255|PROSITE- ProRule:PRU00128}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	CTTACCTCTGGGCATCTCCTT	0.587			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													uc002rmy.2		NaN	yes	Dom	yes	Familial neuroblastoma	2	2p23	238	T|Mis|A	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	neuroblastoma	ALCL|NSCLC|Neuroblastoma	NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	0				haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218						c.(946-948)CCC>CGC		anaplastic lymphoma kinase precursor	Adenosine triphosphate(DB00171)						101.0	95.0	97.0					2																	29917721		2203	4300	6503	SO:0001583	missense	238	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29917721G>C	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.947C>G	2.37:g.29917721G>C	ENSP00000373700:p.Pro316Arg						p.P316R	NM_004304	NP_004295	Q9UM73	ALK_HUMAN			3	1854	-	Acute lymphoblastic leukemia(172;0.155)		316			MAM 1.|Extracellular (Potential).		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	c.947C>G	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.711043	0.48517	.	.	ENSG00000171094	ENST00000389048	T	0.02015	4.5	5.83	4.91	0.64330	Concanavalin A-like lectin/glucanase (1);MAM domain (2);	.	.	.	.	T	0.01592	0.0051	N	0.08118	0	0.80722	D	1	B	0.20052	0.041	B	0.23419	0.046	T	0.61959	-0.6955	8	.	.	.	.	12.0806	0.53669	0.0:0.1727:0.8273:0.0	.	316	Q9UM73	ALK_HUMAN	R	316	ENSP00000373700:P316R	.	P	-	2	0	ALK	29771225	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.696000	0.54757	2.759000	0.94783	0.561000	0.74099	CCC		0.587	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1		NM_004304		25	80	0	0	0	0.000227799	0	25	80		
MOGS	7841	broad.mit.edu	37	2	74688895	74688895	+	Missense_Mutation	SNP	C	C	T	rs200966949		TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr2:74688895C>T	ENST00000233616.4	-	4	2183	c.2021G>A	c.(2020-2022)cGg>cAg	p.R674Q	MOGS_ENST00000462443.1_5'Flank|MOGS_ENST00000452063.2_Missense_Mutation_p.R568Q|MOGS_ENST00000409065.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	674					cellular protein metabolic process (GO:0044267)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573)			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						ACCCACCACCCGAACGAGCCC	0.582																																						uc010ffj.2		NaN																	0					0						c.(2020-2022)CGG>CAG		mannosyl-oligosaccharide glucosidase isoform 1		C	GLN/ARG,GLN/ARG	2,3916		0,2,1957	60.0	71.0	67.0		1703,2021	5.0	1.0	2		67	0,8266		0,0,4133	yes	missense,missense	MOGS	NM_001146158.1,NM_006302.2	43,43	0,2,6090	TT,TC,CC		0.0,0.051,0.0164	probably-damaging,probably-damaging	568/732,674/838	74688895	2,12182	1959	4133	6092	SO:0001583	missense	7841				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity	g.chr2:74688895C>T	X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	3.2.1.106		24862	protein-coding gene	gene with protein product	"""glucosidase I"", ""processing A-glucosidase I"""	601336				7635146, 8786151	Standard	NM_006302		Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.2021G>A	2.37:g.74688895C>T	ENSP00000233616:p.Arg674Gln					MOGS_uc010ffh.2_Missense_Mutation_p.R399Q|MOGS_uc010yrt.1_Missense_Mutation_p.R555Q|MOGS_uc010ffi.2_Missense_Mutation_p.R568Q	p.R674Q	NM_006302	NP_006293	Q13724	MOGS_HUMAN			4	2184	-			674			Lumenal (Potential).		A8K938|F5H6D0|Q17RN9|Q8TCT5	Missense_Mutation	SNP	ENST00000233616.4	37	c.2021G>A	CCDS42700.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.425057	0.62733	5.1E-4	0.0	ENSG00000115275	ENST00000233616;ENST00000452063	T;T	0.56941	0.43;0.43	5.01	5.01	0.66863	Six-hairpin glycosidase-like (1);	0.000000	0.85682	D	0.000000	T	0.75635	0.3876	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75915	-0.3149	10	0.30854	T	0.27	-19.3716	15.8593	0.79009	0.0:1.0:0.0:0.0	.	674	Q13724	MOGS_HUMAN	Q	674;568	ENSP00000233616:R674Q;ENSP00000388201:R568Q	ENSP00000233616:R674Q	R	-	2	0	MOGS	74542403	1.000000	0.71417	0.980000	0.43619	0.360000	0.29518	6.839000	0.75364	2.618000	0.88619	0.462000	0.41574	CGG		0.582	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328382.1		NM_006302		9	99	0	0	0	0.000442599	0	9	99		
SEMA4C	54910	broad.mit.edu	37	2	97530101	97530101	+	Silent	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr2:97530101C>T	ENST00000305476.5	-	10	1113	c.981G>A	c.(979-981)tcG>tcA	p.S327S		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	327	Dominant negative effect on myogenic differentiation. {ECO:0000250}.|Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell migration in hindbrain (GO:0021535)|cerebellum development (GO:0021549)|muscle cell differentiation (GO:0042692)|neural tube closure (GO:0001843)|positive regulation of stress-activated MAPK cascade (GO:0032874)|semaphorin-plexin signaling pathway (GO:0071526)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle membrane (GO:0030672)	receptor activity (GO:0004872)			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						CACAGATGGCCGACAGGTACA	0.582																																						uc002sxh.3		NaN																	0				skin(2)	2						c.(979-981)TCG>TCA		semaphorin 4C precursor							91.0	93.0	93.0					2																	97530101		2203	4300	6503	SO:0001819	synonymous_variant	54910				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity	g.chr2:97530101C>T	AB051526	CCDS2029.1	2q11.2	2013-01-11			ENSG00000168758	ENSG00000168758		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10731	protein-coding gene	gene with protein product	"""M-Sema F"""	604462		SEMAI		7656991	Standard	NM_017789		Approved	Semacl1, Semaf	uc002sxh.4	Q9C0C4	OTTHUMG00000130535	ENST00000305476.5:c.981G>A	2.37:g.97530101C>T						SEMA4C_uc002sxf.3_5'Flank|SEMA4C_uc002sxe.2_5'Flank|SEMA4C_uc002sxg.3_Silent_p.S380S	p.S327S	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN			10	1141	-			327			Extracellular (Potential).|Dominant negative effect on myogenic differentiation (By similarity).|Sema.		Q32MJ3|Q7Z5X0	Silent	SNP	ENST00000305476.5	37	c.981G>A	CCDS2029.1																																																																																				0.582	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252957.1		NM_017789		16	162	0	0	0	0.00074312	0	16	162		
DDX18	8886	broad.mit.edu	37	2	118575041	118575041	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr2:118575041C>T	ENST00000263239.2	+	2	235	c.107C>T	c.(106-108)tCg>tTg	p.S36L	DDX18_ENST00000474694.1_3'UTR	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	36					ATP catabolic process (GO:0006200)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTGACCCTATCGGAAACTCAA	0.358																																						uc002tlh.1		NaN																	0				breast(2)|ovary(1)|lung(1)	4						c.(106-108)TCG>TTG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 18							38.0	42.0	41.0					2																	118575041		2201	4296	6497	SO:0001583	missense	8886						ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr2:118575041C>T	X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205		"""DEAD-boxes"""	2741	protein-coding gene	gene with protein product		606355	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)"""			8861962	Standard	NM_006773		Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.107C>T	2.37:g.118575041C>T	ENSP00000263239:p.Ser36Leu						p.S36L	NM_006773	NP_006764	Q9NVP1	DDX18_HUMAN			2	206	+			36					Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Missense_Mutation	SNP	ENST00000263239.2	37	c.107C>T	CCDS2120.1	.	.	.	.	.	.	.	.	.	.	C	7.518	0.656139	0.14580	.	.	ENSG00000088205	ENST00000263239	T	0.23754	1.89	3.45	3.45	0.39498	.	1.534570	0.03613	N	0.235138	T	0.28764	0.0713	L	0.56769	1.78	0.09310	N	1	B	0.30211	0.273	B	0.22753	0.041	T	0.21109	-1.0255	10	0.38643	T	0.18	-3.3699	10.7178	0.46023	0.0:1.0:0.0:0.0	.	36	Q9NVP1	DDX18_HUMAN	L	36	ENSP00000263239:S36L	ENSP00000263239:S36L	S	+	2	0	DDX18	118291511	0.713000	0.27926	0.118000	0.21660	0.006000	0.05464	2.930000	0.48924	2.243000	0.73865	0.655000	0.94253	TCG		0.358	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129632.3		NM_006773		7	87	0	0	0	0.000157383	0	7	87		
COL5A2	1290	broad.mit.edu	37	2	189904075	189904075	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr2:189904075C>T	ENST00000374866.3	-	51	4122	c.3848G>A	c.(3847-3849)cGc>cAc	p.R1283H		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1283	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ATCGGGGCTGCGCATGGTTTC	0.522																																						uc002uqk.2		NaN																	0				ovary(2)	2						c.(3847-3849)CGC>CAC		alpha 2 type V collagen preproprotein							121.0	112.0	115.0					2																	189904075		2203	4300	6503	SO:0001583	missense	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189904075C>T	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.3848G>A	2.37:g.189904075C>T	ENSP00000364000:p.Arg1283His					COL5A2_uc010frx.2_Missense_Mutation_p.R859H	p.R1283H	NM_000393	NP_000384	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		51	4123	-			1283			Fibrillar collagen NC1.		P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	c.3848G>A	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.837296	0.71373	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	T	0.75050	-0.9	5.18	5.18	0.71444	Fibrillar collagen, C-terminal (3);	0.000000	0.46758	D	0.000271	D	0.88826	0.6542	M	0.91663	3.23	0.58432	D	0.999998	D;D	0.76494	0.998;0.999	D;D	0.66847	0.91;0.947	D	0.90603	0.4546	10	0.52906	T	0.07	.	18.6647	0.91485	0.0:1.0:0.0:0.0	.	923;1283	Q5PR22;P05997	.;CO5A2_HUMAN	H	1283;923	ENSP00000364000:R1283H	ENSP00000364000:R1283H	R	-	2	0	COL5A2	189612320	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	5.879000	0.69690	2.393000	0.81446	0.655000	0.94253	CGC		0.522	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1		NM_000393		7	53	0	0	0	0.000157383	0	7	53		
DIS3L2	129563	broad.mit.edu	37	2	233198629	233198629	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr2:233198629C>T	ENST00000409307.1	+	16	2090	c.2090C>T	c.(2089-2091)aCa>aTa	p.T697I	DIS3L2_ENST00000273009.6_Intron|DIS3L2_ENST00000325385.7_Missense_Mutation_p.T697I					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		CCCCTGTACACACACTTCACC	0.662																																						uc010fxz.2		NaN																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(2089-2091)ACA>ATA		DIS3 mitotic control homolog (S.							59.0	66.0	64.0					2																	233198629		2175	4268	6443	SO:0001583	missense	129563						exonuclease activity|ribonuclease activity|RNA binding	g.chr2:233198629C>T	BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"""family with sequence similarity 6, member A"", ""DIS3 mitotic control homolog (S. cerevisiae)-like 2"""	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.2090C>T	2.37:g.233198629C>T	ENSP00000386799:p.Thr697Ile					DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vso.2_RNA|DIS3L2_uc002vsp.1_5'Flank	p.T697I	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)	17	2366	+		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)	697						Missense_Mutation	SNP	ENST00000409307.1	37	c.2090C>T	CCDS42834.1	.	.	.	.	.	.	.	.	.	.	c	25.6	4.657995	0.88154	.	.	ENSG00000144535	ENST00000325385;ENST00000409307;ENST00000424049	T;T;T	0.43294	0.95;0.95;0.95	4.3	4.3	0.51218	Ribonuclease II/R, conserved site (1);Ribonuclease II/R (2);	0.000000	0.85682	D	0.000000	T	0.79040	0.4379	H	0.98818	4.34	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.88720	0.3229	10	0.87932	D	0	-19.9459	16.8129	0.85725	0.0:1.0:0.0:0.0	.	697	Q8IYB7	DI3L2_HUMAN	I	697;697;332	ENSP00000315569:T697I;ENSP00000386799:T697I;ENSP00000415419:T332I	ENSP00000315569:T697I	T	+	2	0	DIS3L2	232906873	1.000000	0.71417	0.985000	0.45067	0.747000	0.42532	5.608000	0.67654	2.129000	0.65627	0.644000	0.83932	ACA		0.662	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330988.1		NM_152383		18	92	0	0	0	0.00074312	0	18	92		
CFAP61	26074	broad.mit.edu	37	20	20279020	20279020	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr20:20279020G>A	ENST00000245957.5	+	25	3488	c.3412G>A	c.(3412-3414)Gat>Aat	p.D1138N	C20orf26_ENST00000377309.2_3'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		1138										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CCTGATCACAGATCTCTATAG	0.468																																						uc002wru.2		NaN																	0				ovary(3)|pancreas(1)	4						c.(3412-3414)GAT>AAT		hypothetical protein LOC26074							61.0	55.0	57.0					20																	20279020		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20279020G>A																												ENST00000245957.5:c.3412G>A	20.37:g.20279020G>A	ENSP00000245957:p.Asp1138Asn					C20orf26_uc002wrw.2_RNA	p.D1138N	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	25	3488	+			1138					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.3412G>A	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.616988	0.66672	.	.	ENSG00000089101	ENST00000343997;ENST00000389655;ENST00000245957	T	0.51071	0.72	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.60340	0.2261	M	0.78049	2.395	0.80722	D	1	D	0.59767	0.986	P	0.51895	0.683	T	0.65594	-0.6130	10	0.66056	D	0.02	.	13.8624	0.63569	0.0729:0.0:0.9271:0.0	.	1138	Q8NHU2	CT026_HUMAN	N	1078;1104;1138	ENSP00000245957:D1138N	ENSP00000245957:D1138N	D	+	1	0	C20orf26	20227020	1.000000	0.71417	0.972000	0.41901	0.144000	0.21451	7.762000	0.85270	2.651000	0.90000	0.655000	0.94253	GAT		0.468	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3				8	57	0	0	0	0.000442599	0	8	57		
ATP9A	10079	broad.mit.edu	37	20	50224073	50224073	+	Silent	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr20:50224073G>A	ENST00000338821.5	-	26	3060	c.2796C>T	c.(2794-2796)atC>atT	p.I932I	ATP9A_ENST00000402822.1_Silent_p.I811I|ATP9A_ENST00000311637.5_Silent_p.I796I	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	932					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TACCTTGATAGATGCTAATCA	0.488																																						uc002xwg.1		NaN																	0				ovary(4)	4						c.(2794-2796)ATC>ATT		ATPase, class II, type 9A							87.0	66.0	73.0					20																	50224073		2203	4300	6503	SO:0001819	synonymous_variant	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50224073G>A	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.2796C>T	20.37:g.50224073G>A						ATP9A_uc010gih.1_Silent_p.I796I|ATP9A_uc002xwf.1_Silent_p.I104I	p.I932I	NM_006045	NP_006036	O75110	ATP9A_HUMAN			26	2796	-			932			Helical; (Potential).		E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Silent	SNP	ENST00000338821.5	37	c.2796C>T	CCDS33489.1																																																																																				0.488	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1		NM_006045		12	39	0	0	0	0.000151284	0	12	39		
PTK6	5753	broad.mit.edu	37	20	62168507	62168507	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr20:62168507C>T	ENST00000217185.2	-	1	188	c.161G>A	c.(160-162)gGt>gAt	p.G54D	PTK6_ENST00000542869.1_De_novo_Start_InFrame	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	54	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|intestinal epithelial cell differentiation (GO:0060575)|negative regulation of growth (GO:0045926)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)		Vandetanib(DB05294)	CACGGCCCCACCCGCCTCGTC	0.692																																						uc002yfg.2		NaN																	0				stomach(1)|kidney(1)	2						c.(160-162)GGT>GAT		PTK6 protein tyrosine kinase 6							42.0	30.0	34.0					20																	62168507		2190	4293	6483	SO:0001583	missense	5753					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr20:62168507C>T	U61412	CCDS13524.1, CCDS74750.1	20q13.3	2013-02-18	2013-02-18		ENSG00000101213	ENSG00000101213	2.7.10.1	"""SH2 domain containing"""	9617	protein-coding gene	gene with protein product		602004	"""PTK6 protein tyrosine kinase 6"""			8247543, 9284935	Standard	NM_005975		Approved	BRK	uc002yfg.4	Q13882	OTTHUMG00000033039	ENST00000217185.2:c.161G>A	20.37:g.62168507C>T	ENSP00000217185:p.Gly54Asp					PTK6_uc011aay.1_Translation_Start_Site|PTK6_uc011aba.1_Missense_Mutation_p.G54D	p.G54D	NM_005975	NP_005966	Q13882	PTK6_HUMAN	Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)		1	201	-	all_cancers(38;2.51e-11)		54			SH3.		B2RCR3|B4DW46|Q58F01	Missense_Mutation	SNP	ENST00000217185.2	37	c.161G>A	CCDS13524.1	.	.	.	.	.	.	.	.	.	.	C	9.776	1.174090	0.21704	.	.	ENSG00000101213	ENST00000217185	T	0.47177	0.85	4.31	3.37	0.38596	Src homology-3 domain (2);Variant SH3 (1);	0.187986	0.25506	N	0.030217	T	0.34193	0.0889	N	0.20845	0.615	0.41370	D	0.987488	P;B	0.42357	0.777;0.06	B;B	0.42738	0.396;0.073	T	0.11767	-1.0574	10	0.48119	T	0.1	.	9.694	0.40145	0.0:0.8985:0.0:0.1015	.	54;54	B4DWV1;Q13882	.;PTK6_HUMAN	D	54	ENSP00000217185:G54D	ENSP00000217185:G54D	G	-	2	0	PTK6	61638951	0.000000	0.05858	0.018000	0.16275	0.016000	0.09150	0.487000	0.22356	0.807000	0.34208	0.313000	0.20887	GGT		0.692	PTK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080313.1				14	18	0	0	0	0.000308642	0	14	18		
MX1	4599	broad.mit.edu	37	21	42823170	42823170	+	Splice_Site	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr21:42823170G>A	ENST00000398600.2	+	17	2534	c.1509G>A	c.(1507-1509)aaG>aaA	p.K503K	MX1_ENST00000288383.6_Splice_Site_p.K480K|MX1_ENST00000398598.3_Splice_Site_p.K503K|MX1_ENST00000455164.2_Splice_Site_p.K503K	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	MX dynamin-like GTPase 1	503	Middle domain.|Stalk.				apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|response to type I interferon (GO:0034340)|response to virus (GO:0009615)|signal transduction (GO:0007165)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				GAACCGCCAAGGTAAAACCAA	0.308																																						uc002yzh.2		NaN																	0				ovary(1)	1						c.(1507-1509)AAG>AAA		myxovirus resistance protein 1							118.0	138.0	131.0					21																	42823170		2201	4298	6499	SO:0001630	splice_region_variant	4599				induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding	g.chr21:42823170G>A		CCDS13673.1, CCDS74796.1	21q22.3	2014-07-15	2014-07-15		ENSG00000157601	ENSG00000157601			7532	protein-coding gene	gene with protein product	"""interferon-inducible protein p78"""	147150	"""myxovirus (influenza) resistance 1, homolog of murine (interferon-inducible protein p78)"", ""myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)"""			17570575	Standard	XM_005260979		Approved	IFI-78K, MxA	uc010goq.3	P20591	OTTHUMG00000086755	ENST00000398600.2:c.1509+1G>A	21.37:g.42823170G>A						MX1_uc002yzi.2_Silent_p.K503K|MX1_uc010goq.2_Silent_p.K503K	p.K503K	NM_001144925	NP_001138397	P20591	MX1_HUMAN			17	2456	+		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)	503					B2RDA5|B3KU10|C9IYV7|C9J8D6|C9JN19|C9JN88|C9JUL1|C9JZS6|D3DSI8|Q86YP5|Q96CI3	Silent	SNP	ENST00000398600.2	37	c.1509G>A	CCDS13673.1																																																																																				0.308	MX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195161.2			Silent	119	244	0	0	0	0.000781405	0	119	244		
ITGB2	3689	broad.mit.edu	37	21	46306710	46306710	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr21:46306710T>C	ENST00000397850.2	-	16	2640	c.2188A>G	c.(2188-2190)Agc>Ggc	p.S730G	ITGB2_ENST00000355153.4_Missense_Mutation_p.S730G|ITGB2_ENST00000397857.1_Missense_Mutation_p.S730G|ITGB2_ENST00000302347.5_Missense_Mutation_p.S730G|ITGB2_ENST00000397852.1_Missense_Mutation_p.S730G|ITGB2_ENST00000397854.3_Missense_Mutation_p.S673G			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	730					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	CGGAGGTCGCTCAGGTGGATC	0.627																																						uc002zgd.2		NaN																	0				ovary(4)|central_nervous_system(3)|breast(2)	9						c.(2188-2190)AGC>GGC		integrin, beta 2 precursor	Simvastatin(DB00641)						88.0	75.0	79.0					21																	46306710		2203	4300	6503	SO:0001583	missense	3689				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	g.chr21:46306710T>C	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"""CD molecules"", ""Complement system"", ""Integrins"""	6155	protein-coding gene	gene with protein product		600065	"""integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"""	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.2188A>G	21.37:g.46306710T>C	ENSP00000380948:p.Ser730Gly					ITGB2_uc002zge.2_Missense_Mutation_p.S730G|ITGB2_uc002zgf.3_Missense_Mutation_p.S730G|ITGB2_uc011afl.1_Missense_Mutation_p.S652G|ITGB2_uc010gpw.2_Missense_Mutation_p.S673G|ITGB2_uc002zgg.2_Missense_Mutation_p.S730G	p.S730G	NM_001127491	NP_001120963	P05107	ITB2_HUMAN		Colorectal(79;0.0669)	14	2232	-			730			Cytoplasmic (Potential).		B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Missense_Mutation	SNP	ENST00000397850.2	37	c.2188A>G	CCDS13716.1	.	.	.	.	.	.	.	.	.	.	T	9.949	1.219611	0.22373	.	.	ENSG00000160255	ENST00000397852;ENST00000397857;ENST00000397854;ENST00000355153;ENST00000397850;ENST00000302347	D;D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41;-2.41	4.7	3.49	0.39957	Integrin beta subunit, cytoplasmic (2);	.	.	.	.	D	0.84982	0.5593	L	0.43152	1.355	0.27376	N	0.955543	P;P	0.37731	0.607;0.607	B;B	0.39465	0.3;0.3	T	0.76066	-0.3095	9	0.54805	T	0.06	.	9.3558	0.38166	0.0:0.0:0.1811:0.8189	.	673;730	A8MYE6;P05107	.;ITB2_HUMAN	G	730;730;673;730;730;730	ENSP00000380950:S730G;ENSP00000380955:S730G;ENSP00000380952:S673G;ENSP00000347279:S730G;ENSP00000380948:S730G;ENSP00000303242:S730G	ENSP00000303242:S730G	S	-	1	0	ITGB2	45131138	1.000000	0.71417	0.544000	0.28141	0.049000	0.14656	1.969000	0.40510	0.604000	0.29930	0.459000	0.35465	AGC		0.627	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2		NM_000211		3	63	0	0	0	6.4e-05	0	3	63		
EIF4ENIF1	56478	broad.mit.edu	37	22	31839041	31839041	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr22:31839041T>C	ENST00000397525.1	-	16	2336	c.2113A>G	c.(2113-2115)Atg>Gtg	p.M705V	EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.M681V|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.M705V|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.M360V|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.M531V	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	705						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTCTCGTACATCTTACGAATC	0.458																																						uc003akz.1		NaN																	0				ovary(1)	1						c.(2113-2115)ATG>GTG		eukaryotic translation initiation factor 4E							120.0	104.0	109.0					22																	31839041		2203	4300	6503	SO:0001583	missense	56478					nucleus	protein binding|protein transporter activity	g.chr22:31839041T>C	AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.2113A>G	22.37:g.31839041T>C	ENSP00000380659:p.Met705Val					EIF4ENIF1_uc003akx.1_Missense_Mutation_p.M360V|EIF4ENIF1_uc003aky.1_Missense_Mutation_p.M385V|EIF4ENIF1_uc003ala.1_Missense_Mutation_p.M705V|EIF4ENIF1_uc003alb.1_Missense_Mutation_p.M531V|EIF4ENIF1_uc003akw.1_Missense_Mutation_p.M195V	p.M705V	NM_019843	NP_062817	Q9NRA8	4ET_HUMAN			16	2277	-			705					B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	ENST00000397525.1	37	c.2113A>G	CCDS13898.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.468347	0.84533	.	.	ENSG00000184708	ENST00000344710;ENST00000397525;ENST00000330125;ENST00000397523;ENST00000382180	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.76190	0.3953	M	0.66939	2.045	0.80722	D	1	P;P;D;D	0.63046	0.932;0.932;0.992;0.963	D;D;D;D	0.74674	0.949;0.949;0.984;0.966	T	0.73487	-0.3967	9	0.28530	T	0.3	-19.114	15.5635	0.76269	0.0:0.0:0.0:1.0	.	531;705;530;681	B1AKL3;Q9NRA8;Q9NRA8-2;B1AKL4	.;4ET_HUMAN;.;.	V	531;705;705;681;360	.	ENSP00000328103:M705V	M	-	1	0	EIF4ENIF1	30169041	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.153000	0.77428	2.326000	0.78906	0.533000	0.62120	ATG		0.458	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1		NM_019843		16	49	0	0	0	0.000422831	0	16	49		
TRANK1	9881	broad.mit.edu	37	3	36872485	36872485	+	Silent	SNP	T	T	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr3:36872485T>C	ENST00000429976.2	-	21	8704	c.8457A>G	c.(8455-8457)gtA>gtG	p.V2819V	TRANK1_ENST00000301807.6_Silent_p.V2269V|TRANK1_ENST00000428977.2_Silent_p.V2269V	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2819							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						TGTGGATCCATACACTTTGCT	0.532																																						uc003cgj.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(6805-6807)GTA>GTG		lupus brain antigen 1							232.0	228.0	230.0					3																	36872485		2112	4234	6346	SO:0001819	synonymous_variant	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36872485T>C	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.8457A>G	3.37:g.36872485T>C							p.V2269V	NM_014831	NP_055646	O15050	TRNK1_HUMAN			12	7109	-			2819					Q8N8K0	Silent	SNP	ENST00000429976.2	37	c.6807A>G	CCDS46789.2																																																																																				0.532	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_014831		43	143	0	0	0	0.000781405	0	43	143		
KLHDC8B	200942	broad.mit.edu	37	3	49213182	49213182	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr3:49213182C>T	ENST00000332780.2	+	6	1222	c.1013C>T	c.(1012-1014)gCc>gTc	p.A338V	C3orf84_ENST00000443990.1_5'Flank	NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	338						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGGGGTGTGGCCCAGGGCCCC	0.662																																						uc003cwh.2		NaN																	0					0						c.(1012-1014)GCC>GTC		kelch domain containing 8B							44.0	44.0	44.0					3																	49213182		2203	4300	6503	SO:0001583	missense	200942					cytoplasm		g.chr3:49213182C>T		CCDS2791.1	3p21.31	2008-02-05			ENSG00000185909	ENSG00000185909			28557	protein-coding gene	gene with protein product		613169					Standard	NM_173546		Approved	MGC35097	uc003cwh.3	Q8IXV7	OTTHUMG00000156814	ENST00000332780.2:c.1013C>T	3.37:g.49213182C>T	ENSP00000327468:p.Ala338Val					KLHDC8B_uc003cwi.1_3'UTR	p.A338V	NM_173546	NP_775817	Q8IXV7	KLD8B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	6	1198	+			338			Kelch 8.			Missense_Mutation	SNP	ENST00000332780.2	37	c.1013C>T	CCDS2791.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212737	0.79352	.	.	ENSG00000185909	ENST00000332780;ENST00000538729	T	0.66638	-0.22	5.59	5.59	0.84812	Kelch-type beta propeller (1);	0.056832	0.64402	D	0.000003	T	0.54822	0.1882	N	0.22421	0.69	0.49582	D	0.999804	P	0.40638	0.725	B	0.38562	0.276	T	0.61247	-0.7101	10	0.62326	D	0.03	-16.4747	15.0826	0.72127	0.142:0.858:0.0:0.0	.	338	Q8IXV7	KLD8B_HUMAN	V	338;89	ENSP00000327468:A338V	ENSP00000327468:A338V	A	+	2	0	KLHDC8B	49188186	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.483000	0.60264	2.645000	0.89757	0.655000	0.94253	GCC		0.662	KLHDC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345974.1		NM_173546		10	58	0	0	0	0.000673444	0	10	58		
TRAT1	50852	broad.mit.edu	37	3	108565976	108565976	+	Splice_Site	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr3:108565976G>A	ENST00000295756.6	+	4	444	c.214G>A	c.(214-216)Gaa>Aaa	p.E72K	TRAT1_ENST00000493604.1_3'UTR|TRAT1_ENST00000426646.1_Splice_Site_p.E35K	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	72					cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of receptor recycling (GO:0001920)|negative regulation of transport (GO:0051051)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell receptor signaling pathway (GO:0050862)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						TATGATTTCAGGTAAGTTTTC	0.274																																						uc003dxi.1		NaN																	0				skin(1)	1						c.(214-216)GAA>AAA		T-cell receptor interacting molecule							55.0	60.0	58.0					3																	108565976		2197	4290	6487	SO:0001630	splice_region_variant	50852				cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr3:108565976G>A	AJ240084	CCDS33813.1	3q13	2005-05-04	2005-05-04	2005-05-04	ENSG00000163519	ENSG00000163519			30698	protein-coding gene	gene with protein product		604962	"""T cell receptor interacting molecule"""	TCRIM		10663578, 9687533	Standard	NM_016388		Approved	HSPC062, TRIM	uc003dxi.1	Q6PIZ9	OTTHUMG00000159198	ENST00000295756.6:c.214+1G>A	3.37:g.108565976G>A						TRAT1_uc010hpx.1_Missense_Mutation_p.E35K	p.E72K	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN			4	358	+			72			Cytoplasmic (Potential).		Q9NZX5	Missense_Mutation	SNP	ENST00000295756.6	37	c.214G>A	CCDS33813.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802216	0.70682	.	.	ENSG00000163519	ENST00000295756;ENST00000426646	T;T	0.51574	0.7;0.7	5.89	5.89	0.94794	.	0.216121	0.32386	N	0.006164	T	0.55986	0.1955	M	0.67953	2.075	0.39524	D	0.968564	P;P	0.44139	0.827;0.827	P;P	0.46758	0.526;0.526	T	0.61098	-0.7131	10	0.66056	D	0.02	-21.073	15.7528	0.78001	0.0:0.0:1.0:0.0	.	35;72	C9JF66;Q6PIZ9	.;TRAT1_HUMAN	K	72;35	ENSP00000295756:E72K;ENSP00000410097:E35K	ENSP00000295756:E72K	E	+	1	0	TRAT1	110048666	1.000000	0.71417	0.994000	0.49952	0.956000	0.61745	5.307000	0.65762	2.788000	0.95919	0.557000	0.71058	GAA		0.274	TRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353794.1		NM_016388	Missense_Mutation	5	30	0	0	0	0.000602214	0	5	30		
ZDHHC23	254887	broad.mit.edu	37	3	113675335	113675335	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr3:113675335G>A	ENST00000330212.3	+	4	1321	c.1022G>A	c.(1021-1023)gGa>gAa	p.G341E	ZDHHC23_ENST00000498275.1_Missense_Mutation_p.G335E	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	341					protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						TATTGTCCTGGAGTTTATGCA	0.463																																						uc003eau.2		NaN																	0				ovary(2)	2						c.(1021-1023)GGA>GAA		zinc finger, DHHC domain containing 23							141.0	127.0	132.0					3																	113675335		2203	4300	6503	SO:0001583	missense	254887					integral to membrane	acyltransferase activity|zinc ion binding	g.chr3:113675335G>A	AK127025	CCDS33827.1	3q13.31	2008-05-02			ENSG00000184307	ENSG00000184307		"""Zinc fingers, DHHC-type"""	28654	protein-coding gene	gene with protein product						12477932	Standard	NM_173570		Approved	MGC42530	uc003eau.3	Q8IYP9	OTTHUMG00000159335	ENST00000330212.3:c.1022G>A	3.37:g.113675335G>A	ENSP00000330485:p.Gly341Glu					ZDHHC23_uc003eav.2_Missense_Mutation_p.G335E|ZDHHC23_uc003eaw.1_5'Flank	p.G341E	NM_173570	NP_775841	Q8IYP9	ZDH23_HUMAN			4	1321	+			341					D3DN76	Missense_Mutation	SNP	ENST00000330212.3	37	c.1022G>A	CCDS33827.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.260341	0.59431	.	.	ENSG00000184307	ENST00000330212;ENST00000498275	T;T	0.24151	1.87;1.87	5.8	5.8	0.92144	.	0.051141	0.85682	D	0.000000	T	0.46014	0.1371	L	0.42686	1.345	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.20672	-1.0268	10	0.54805	T	0.06	-16.2522	20.0637	0.97700	0.0:0.0:1.0:0.0	.	341	Q8IYP9	ZDH23_HUMAN	E	341;335	ENSP00000330485:G341E;ENSP00000417840:G335E	ENSP00000330485:G341E	G	+	2	0	ZDHHC23	115158025	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.841000	0.69409	2.751000	0.94390	0.650000	0.86243	GGA		0.463	ZDHHC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354702.1		NM_173570		6	72	0	0	0	3.59834e-05	0	6	72		
COL6A6	131873	broad.mit.edu	37	3	130311550	130311550	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr3:130311550G>T	ENST00000358511.6	+	14	4386	c.4355G>T	c.(4354-4356)gGa>gTa	p.G1452V	COL6A6_ENST00000453409.2_Missense_Mutation_p.G1452V	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1452	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GGAAACAGAGGACTAAATGGA	0.313																																						uc010htl.2		NaN																	0				ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(4354-4356)GGA>GTA		collagen type VI alpha 6 precursor							161.0	153.0	156.0					3																	130311550		1843	4080	5923	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130311550G>T	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.4355G>T	3.37:g.130311550G>T	ENSP00000351310:p.Gly1452Val					COL6A6_uc003eni.3_5'UTR	p.G1452V	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			14	4386	+			1452			Triple-helical region.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.4355G>T	CCDS46911.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.01|15.01	2.704966|2.704966	0.48412|0.48412	.|.	.|.	ENSG00000206384|ENSG00000206384	ENST00000511332|ENST00000358511;ENST00000453409	.|D;D	.|0.99637	.|-6.29;-6.29	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	.|0.000000	.|0.42053	.|D	.|0.000771	D|D	0.99764|0.99764	0.9904|0.9904	H|H	0.97265|0.97265	3.97|3.97	0.58432|0.58432	D|D	0.999998|0.999998	.|D	.|0.76494	.|0.999	.|D	.|0.65773	.|0.938	D|D	0.97315|0.97315	0.9940|0.9940	5|10	.|0.87932	.|D	.|0	.|.	15.6375|15.6375	0.76966|0.76966	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1452	.|A6NMZ7	.|CO6A6_HUMAN	Y|V	231|1452	.|ENSP00000351310:G1452V;ENSP00000399236:G1452V	.|ENSP00000351310:G1452V	D|G	+|+	1|2	0|0	COL6A6|COL6A6	131794240|131794240	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.109000|0.109000	0.19521|0.19521	5.261000|5.261000	0.65496|0.65496	2.763000|2.763000	0.94921|0.94921	0.563000|0.563000	0.77884|0.77884	GAC|GGA		0.313	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5		NM_001102608		28	124	1	0	4.34311e-12	0.00058488	5.18424e-11	28	124		
PPP2R3A	5523	broad.mit.edu	37	3	135721343	135721343	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr3:135721343G>A	ENST00000264977.3	+	2	1620	c.1003G>A	c.(1003-1005)Gaa>Aaa	p.E335K	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	335					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCCTAAATATGAAGATGTTGT	0.413																																						uc003eqv.1		NaN																	0				ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7						c.(1003-1005)GAA>AAA		protein phosphatase 2, regulatory subunit B'',							112.0	106.0	108.0					3																	135721343		2203	4300	6503	SO:0001583	missense	5523				protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity	g.chr3:135721343G>A	L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	9307	protein-coding gene	gene with protein product		604944	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"""	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.1003G>A	3.37:g.135721343G>A	ENSP00000264977:p.Glu335Lys					PPP2R3A_uc011blz.1_Intron	p.E335K	NM_002718	NP_002709	Q06190	P2R3A_HUMAN			2	1568	+			335					A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	ENST00000264977.3	37	c.1003G>A	CCDS3087.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.229817	0.79688	.	.	ENSG00000073711	ENST00000264977	T	0.18810	2.19	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.45994	0.1370	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.41893	-0.9483	10	0.87932	D	0	.	18.0392	0.89314	0.0:0.0:1.0:0.0	.	335	Q06190	P2R3A_HUMAN	K	335	ENSP00000264977:E335K	ENSP00000264977:E335K	E	+	1	0	PPP2R3A	137204033	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.471000	0.97696	2.484000	0.83849	0.655000	0.94253	GAA		0.413	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1		NM_002718		7	65	0	0	0	0.000442599	0	7	65		
PIK3CB	5291	broad.mit.edu	37	3	138478132	138478132	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr3:138478132C>T	ENST00000477593.1	-	2	127	c.54G>A	c.(52-54)tgG>tgA	p.W18*	PIK3CB_ENST00000289153.2_Nonsense_Mutation_p.W18*			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	18					activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	AATCCACCGCCCAGATGTCAA	0.463																																						uc011bmq.1		NaN																	0				breast(2)|ovary(1)|lung(1)|skin(1)	5						c.(52-54)TGG>TGA		catalytic phosphatidylinositol 3-kinase beta							85.0	81.0	83.0					3																	138478132		2203	4300	6503	SO:0001587	stop_gained	5291				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:138478132C>T		CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.54G>A	3.37:g.138478132C>T	ENSP00000418143:p.Trp18*						p.W18*	NM_006219	NP_006210	P42338	PK3CB_HUMAN			1	54	-			18					D3DNF0|Q24JU2	Nonsense_Mutation	SNP	ENST00000477593.1	37	c.54G>A	CCDS3104.1	.	.	.	.	.	.	.	.	.	.	C	41	8.692023	0.98916	.	.	ENSG00000051382	ENST00000477593;ENST00000289153;ENST00000483968;ENST00000461451;ENST00000465581	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.2205	20.1551	0.98106	0.0:1.0:0.0:0.0	.	.	.	.	X	18	.	ENSP00000289153:W18X	W	-	3	0	PIK3CB	139960822	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.414000	0.80117	2.760000	0.94817	0.655000	0.94253	TGG		0.463	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1				5	46	0	0	0	0.000602214	0	5	46		
SLC33A1	9197	broad.mit.edu	37	3	155571496	155571496	+	Silent	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr3:155571496G>A	ENST00000392845.3	-	1	671	c.291C>T	c.(289-291)ctC>ctT	p.L97L	SLC33A1_ENST00000460729.1_5'Flank|SLC33A1_ENST00000359479.3_Silent_p.L97L			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	97					acetyl-CoA transport (GO:0015876)|cell death (GO:0008219)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	acetyl-CoA transporter activity (GO:0008521)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTTGCAAAATGAGTGGGATGC	0.483																																						uc003fan.3		NaN																	0				ovary(2)|large_intestine(1)|pancreas(1)	4						c.(289-291)CTC>CTT		acetyl-coenzyme A transporter							52.0	55.0	54.0					3																	155571496		2203	4300	6503	SO:0001819	synonymous_variant	9197				cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity	g.chr3:155571496G>A	D88152	CCDS3173.1	3q25.31	2013-05-22		2002-12-06	ENSG00000169359	ENSG00000169359		"""Solute carriers"""	95	protein-coding gene	gene with protein product		603690	"""acetyl-Coenzyme A transporter"", ""spastic paraplegia 42 (autosomal dominant)"""	ACATN, SPG42		9096318, 19061983	Standard	NM_004733		Approved	AT-1, AT1	uc003fao.2	O00400	OTTHUMG00000158481	ENST00000392845.3:c.291C>T	3.37:g.155571496G>A						SLC33A1_uc003fao.1_Silent_p.L97L	p.L97L	NM_004733	NP_004724	O00400	ACATN_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		1	672	-			97			Extracellular (Potential).		B2R5Q2|D3DNK4	Silent	SNP	ENST00000392845.3	37	c.291C>T	CCDS3173.1																																																																																				0.483	SLC33A1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351130.3		NM_004733		8	74	0	0	0	0.000157383	0	8	74		
GFM1	85476	broad.mit.edu	37	3	158408110	158408110	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr3:158408110G>A	ENST00000486715.1	+	16	2425	c.2068G>A	c.(2068-2070)Gat>Aat	p.D690N	GFM1_ENST00000264263.5_Missense_Mutation_p.D709N|RP11-379F4.7_ENST00000607624.1_lincRNA	NM_024996.5	NP_079272.4			G elongation factor, mitochondrial 1											breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			ACTGTATGCAGATGTAAGTAG	0.408																																						uc003fce.2		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.(2068-2070)GAT>AAT		G elongation factor, mitochondrial 1 precursor							163.0	153.0	156.0					3																	158408110		2203	4300	6503	SO:0001583	missense	85476				mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:158408110G>A	AF309777	CCDS33885.1	3q25	2008-02-05			ENSG00000168827	ENSG00000168827			13780	protein-coding gene	gene with protein product		606639	"""G translation elongation factor, mitochondrial"""			11374907, 11735030	Standard	NM_024996		Approved	EFGM, GFM, EGF1	uc003fce.3	Q96RP9	OTTHUMG00000158804	ENST00000486715.1:c.2068G>A	3.37:g.158408110G>A	ENSP00000419038:p.Asp690Asn					GFM1_uc003fcf.2_RNA|GFM1_uc003fcg.2_Missense_Mutation_p.D621N	p.D690N	NM_024996	NP_079272	Q96RP9	EFGM_HUMAN	Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		16	2175	+			690						Missense_Mutation	SNP	ENST00000486715.1	37	c.2068G>A	CCDS33885.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.496776	0.64186	.	.	ENSG00000168827	ENST00000486715;ENST00000264263	T;T	0.63096	-0.02;-0.02	5.52	4.65	0.58169	Elongation factor G/III/V (1);Translation elongation factor EFG/EF2, C-terminal (3);	0.228786	0.44285	D	0.000476	T	0.59197	0.2176	L	0.37561	1.115	0.80722	D	1	P;B	0.34462	0.454;0.29	B;B	0.42087	0.258;0.375	T	0.59139	-0.7510	10	0.41790	T	0.15	-29.4502	14.4132	0.67132	0.0706:0.0:0.9294:0.0	.	709;690	Q96RP9-2;Q96RP9	.;EFGM_HUMAN	N	690;709	ENSP00000419038:D690N;ENSP00000264263:D709N	ENSP00000264263:D709N	D	+	1	0	GFM1	159890804	1.000000	0.71417	0.689000	0.30133	0.603000	0.37013	9.382000	0.97209	1.338000	0.45544	0.650000	0.86243	GAT		0.408	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352271.1		NM_024996		9	80	0	0	0	0.000442599	0	9	80		
ACTL6A	86	broad.mit.edu	37	3	179301231	179301231	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr3:179301231C>T	ENST00000429709.2	+	12	1330	c.1117C>T	c.(1117-1119)Cct>Tct	p.P373S	ACTL6A_ENST00000450518.2_Missense_Mutation_p.P331S|ACTL6A_ENST00000392662.1_Missense_Mutation_p.P331S|RP11-145M9.6_ENST00000610007.1_RNA|RP11-15L13.4_ENST00000608818.1_RNA	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	373					ATP-dependent chromatin remodeling (GO:0043044)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|nervous system development (GO:0007399)|neural retina development (GO:0003407)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|npBAF complex (GO:0071564)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			TCAGAAAACTCCTCCAGTAAG	0.368																																						uc003fjw.2		NaN																	0				ovary(1)	1						c.(1117-1119)CCT>TCT		actin-like 6A isoform 1							122.0	134.0	130.0					3																	179301231		2203	4300	6503	SO:0001583	missense	86				chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding	g.chr3:179301231C>T	AK098691	CCDS3231.1, CCDS43174.1	3q26.33	2011-07-06			ENSG00000136518	ENSG00000136518		"""INO80 complex subunits"""	24124	protein-coding gene	gene with protein product	"""BAF complex 53 kDa subunit"", ""BRG1-associated factor"", ""actin-related protein 4"", ""INO80 complex subunit K"""	604958				9845365, 10380635	Standard	NM_004301		Approved	Actl6, BAF53A, Arp4, Baf53a, INO80K	uc003fjw.3	O96019	OTTHUMG00000157782	ENST00000429709.2:c.1117C>T	3.37:g.179301231C>T	ENSP00000397552:p.Pro373Ser					ACTL6A_uc003fjx.2_Missense_Mutation_p.P331S|ACTL6A_uc003fjy.2_Missense_Mutation_p.P331S	p.P373S	NM_004301	NP_004292	O96019	ACL6A_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)		12	1290	+	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		373					B3KMN1|D3DNR9|Q8TAE5|Q9BVS8|Q9H0W6	Missense_Mutation	SNP	ENST00000429709.2	37	c.1117C>T	CCDS3231.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.613971	0.87359	.	.	ENSG00000136518	ENST00000429709;ENST00000450518;ENST00000392662	D;D;D	0.98012	-4.66;-4.66;-4.66	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.98757	0.9582	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99761	1.1021	10	0.87932	D	0	.	19.6651	0.95890	0.0:1.0:0.0:0.0	.	373	O96019	ACL6A_HUMAN	S	373;331;331	ENSP00000397552:P373S;ENSP00000394014:P331S;ENSP00000376430:P331S	ENSP00000376430:P331S	P	+	1	0	ACTL6A	180783925	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	7.416000	0.80143	2.722000	0.93159	0.650000	0.86243	CCT		0.368	ACTL6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349599.1		NM_004301		9	82	0	0	0	0.000442599	0	9	82		
UVSSA	57654	broad.mit.edu	37	4	1374711	1374711	+	Missense_Mutation	SNP	G	G	A	rs551571397		TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr4:1374711G>A	ENST00000389851.4	+	12	2243	c.1796G>A	c.(1795-1797)cGg>cAg	p.R599Q	UVSSA_ENST00000507531.1_Missense_Mutation_p.R599Q|UVSSA_ENST00000511216.1_Missense_Mutation_p.R599Q|UVSSA_ENST00000511563.1_Missense_Mutation_p.R150Q|UVSSA_ENST00000512728.1_Missense_Mutation_p.R150Q	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	599					protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)										GACGAAGGACGGCCGCTCGAC	0.677													G|||	1	0.000199681	0.0	0.0	5008	,	,		17866	0.0		0.0	False		,,,				2504	0.001					uc003gde.3		NaN																	0					0						c.(1795-1797)CGG>CAG		hypothetical protein LOC57654							61.0	60.0	60.0					4																	1374711		2202	4300	6502	SO:0001583	missense	57654							g.chr4:1374711G>A	BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"""KIAA1530"""	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.1796G>A	4.37:g.1374711G>A	ENSP00000374501:p.Arg599Gln					KIAA1530_uc010ibv.2_Missense_Mutation_p.R150Q	p.R599Q	NM_020894	NP_065945	Q2YD98	K1530_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0138)		12	2243	+			599					A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Missense_Mutation	SNP	ENST00000389851.4	37	c.1796G>A	CCDS33938.1	.	.	.	.	.	.	.	.	.	.	G	3.642	-0.073248	0.07184	.	.	ENSG00000163945	ENST00000511216;ENST00000389851;ENST00000507531;ENST00000511563;ENST00000512728	T;T;T;T;T	0.42900	1.54;1.54;1.54;0.96;0.96	4.56	-3.96	0.04106	.	1.675670	0.02798	N	0.122859	T	0.24967	0.0606	L	0.35723	1.085	0.09310	N	1	B	0.26363	0.147	B	0.17979	0.02	T	0.05225	-1.0898	10	0.15066	T	0.55	.	1.3486	0.02168	0.4282:0.099:0.1299:0.3429	.	599	Q2YD98	K1530_HUMAN	Q	599;599;599;150;150	ENSP00000425130:R599Q;ENSP00000374501:R599Q;ENSP00000421741:R599Q;ENSP00000423340:R150Q;ENSP00000427701:R150Q	ENSP00000374501:R599Q	R	+	2	0	KIAA1530	1364711	0.008000	0.16893	0.019000	0.16419	0.000000	0.00434	-0.021000	0.12504	-0.416000	0.07473	-1.108000	0.02087	CGG		0.677	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359480.1		NM_020894		13	54	0	0	0	0.00074312	0	13	54		
FAM53A	152877	broad.mit.edu	37	4	1643302	1643302	+	Silent	SNP	G	G	A	rs151156399		TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr4:1643302G>A	ENST00000308132.6	-	5	1107	c.915C>T	c.(913-915)ctC>ctT	p.L305L	FAM53A_ENST00000472884.2_Silent_p.L305L|FAM53A_ENST00000489363.1_Nonsense_Mutation_p.Q357*|FAM53A_ENST00000461064.1_Silent_p.L305L	NM_001174070.1	NP_001167541.1	Q6NSI3	FA53A_HUMAN	family with sequence similarity 53, member A	305						nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			CTTCGTAATTGAGGGAGCAAA	0.502																																						uc011bve.1		NaN																	0					0						c.(913-915)CTC>CTT		dorsal neural-tube nuclear protein							147.0	164.0	158.0					4																	1643302		2203	4300	6503	SO:0001819	synonymous_variant	152877					nucleus		g.chr4:1643302G>A	BC070112	CCDS33939.1, CCDS75091.1	4p16.3	2005-08-09			ENSG00000174137	ENSG00000174137			31860	protein-coding gene	gene with protein product							Standard	NM_001013622		Approved	DNTNP	uc021xkl.1	Q6NSI3	OTTHUMG00000159855	ENST00000308132.6:c.915C>T	4.37:g.1643302G>A						FAM53A_uc010ibw.2_Nonsense_Mutation_p.Q357*	p.L305L	NM_001013622	NP_001013644	Q6NSI3	FA53A_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0145)		5	1113	-		all_epithelial(65;0.206)|Breast(71;0.212)	305					Q6ZUL5	Silent	SNP	ENST00000308132.6	37	c.915C>T	CCDS33939.1	.	.	.	.	.	.	.	.	.	.	G	36	5.638937	0.96693	.	.	ENSG00000174137	ENST00000489363	.	.	.	4.01	-1.88	0.07713	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	1.0251	5.6418	0.17569	0.4539:0.2968:0.2493:0.0	.	.	.	.	X	357	.	ENSP00000419044:Q357X	Q	-	1	0	FAM53A	1613118	0.390000	0.25213	0.817000	0.32601	0.225000	0.24961	-0.598000	0.05706	-0.301000	0.08882	-0.514000	0.04452	CAA		0.502	FAM53A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359224.1		NM_001013622		43	319	0	0	0	0.000781405	0	43	319		
TACC3	10460	broad.mit.edu	37	4	1730206	1730206	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr4:1730206G>C	ENST00000313288.4	+	4	1183	c.1077G>C	c.(1075-1077)gaG>gaC	p.E359D		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	359					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			GACTGGGAGAGAGGTCCGGCC	0.597																																					Ovarian(120;482 2294 11894 35824)	uc003gdo.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1075-1077)GAG>GAC		transforming, acidic coiled-coil containing							51.0	60.0	57.0					4																	1730206		2203	4300	6503	SO:0001583	missense	10460					centrosome		g.chr4:1730206G>C	AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.1077G>C	4.37:g.1730206G>C	ENSP00000326550:p.Glu359Asp					TACC3_uc010ibz.2_Missense_Mutation_p.E359D|TACC3_uc003gdp.2_Intron|TACC3_uc010ica.2_5'Flank	p.E359D	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)		4	1185	+		Breast(71;0.212)|all_epithelial(65;0.241)	359					Q2NKK4|Q3KQS5|Q9UMQ1	Missense_Mutation	SNP	ENST00000313288.4	37	c.1077G>C	CCDS3352.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.01|13.01	2.109644|2.109644	0.37242|0.37242	.|.	.|.	ENSG00000013810|ENSG00000013810	ENST00000313288|ENST00000470136	T|T	0.09817|0.41400	2.94|1.0	5.07|5.07	3.34|3.34	0.38264|0.38264	.|.	0.392166|0.392166	0.20160|0.20160	U|U	0.097970|0.097970	T|T	0.40040|0.40040	0.1101|0.1101	L|L	0.40543|0.40543	1.245|1.245	0.09310|0.09310	N|N	1|1	P;P|.	0.40834|.	0.73;0.538|.	B;B|.	0.41202|.	0.35;0.077|.	T|T	0.27673|0.27673	-1.0067|-1.0067	10|8	0.39692|0.66056	T|D	0.17|0.02	-1.4008|-1.4008	9.6919|9.6919	0.40134|0.40134	0.2373:0.0:0.7627:0.0|0.2373:0.0:0.7627:0.0	.|.	359;359|.	B4DYJ1;Q9Y6A5|.	.;TACC3_HUMAN|.	D|Q	359|26	ENSP00000326550:E359D|ENSP00000420838:E26Q	ENSP00000326550:E359D|ENSP00000420838:E26Q	E|E	+|+	3|1	2|0	TACC3|TACC3	1700004|1700004	0.768000|0.768000	0.28519|0.28519	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	1.106000|1.106000	0.31098|0.31098	0.532000|0.532000	0.28657|0.28657	-0.229000|-0.229000	0.12294|0.12294	GAG|GAG		0.597	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2				5	73	0	0	0	3.59834e-05	0	5	73		
HAUS3	79441	broad.mit.edu	37	4	2242103	2242103	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr4:2242103G>A	ENST00000243706.4	-	2	800	c.571C>T	c.(571-573)Cca>Tca	p.P191S	HAUS3_ENST00000443786.2_Missense_Mutation_p.P191S|HAUS3_ENST00000506763.1_Missense_Mutation_p.P191S|POLN_ENST00000515357.1_Intron|POLN_ENST00000511885.2_Intron	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	191					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						aataccagtggatttgtccct	0.348																																						uc003ges.1		NaN																	0				large_intestine(2)|breast(2)	4						c.(571-573)CCA>TCA		HAUS augmin-like complex, subunit 3							53.0	47.0	49.0					4																	2242103		2199	4299	6498	SO:0001583	missense	79441				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr4:2242103G>A	AF040964	CCDS33941.1	4p16.3	2013-10-11	2009-04-20	2009-04-20	ENSG00000214367	ENSG00000214367		"""HAUS augmin-like complex subunits"""	28719	protein-coding gene	gene with protein product		613430	"""chromosome 4 open reading frame 15"""	C4orf15		19427217, 19812674	Standard	NM_024511		Approved	MGC4701, IT1, dgt3	uc003ges.1	Q68CZ6		ENST00000243706.4:c.571C>T	4.37:g.2242103G>A	ENSP00000243706:p.Pro191Ser					POLN_uc011bvi.1_Intron|HAUS3_uc011bvj.1_Missense_Mutation_p.P191S|HAUS3_uc003get.1_Missense_Mutation_p.P191S	p.P191S	NM_024511	NP_078787	Q68CZ6	HAUS3_HUMAN			2	801	-			191					B4DF64|O43606|Q8TAZ5|Q9BTJ9	Missense_Mutation	SNP	ENST00000243706.4	37	c.571C>T	CCDS33941.1	.	.	.	.	.	.	.	.	.	.	G	10.26	1.300498	0.23650	.	.	ENSG00000214367	ENST00000506763;ENST00000243706;ENST00000443786	T;T	0.46451	0.87;0.87	5.29	5.29	0.74685	.	0.244954	0.33854	U	0.004495	T	0.34687	0.0906	L	0.53249	1.67	0.09310	N	0.999999	P;B	0.39883	0.693;0.441	B;B	0.36922	0.142;0.236	T	0.28839	-1.0031	10	0.22109	T	0.4	-12.055	9.7407	0.40416	0.0782:0.1431:0.7787:0.0	.	191;191	B4DF64;Q68CZ6	.;HAUS3_HUMAN	S	191	ENSP00000243706:P191S;ENSP00000392903:P191S	ENSP00000243706:P191S	P	-	1	0	HAUS3	2211901	0.258000	0.24033	0.845000	0.33349	0.911000	0.54048	0.669000	0.25142	2.612000	0.88384	0.655000	0.94253	CCA		0.348	HAUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357446.1		NM_024511		5	27	0	0	0	0.000602214	0	5	27		
SH3BP2	6452	broad.mit.edu	37	4	2831314	2831314	+	Silent	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr4:2831314C>T	ENST00000356331.5	+	8	942	c.681C>T	c.(679-681)acC>acT	p.T227T	SH3BP2_ENST00000442312.2_Silent_p.T255T|SH3BP2_ENST00000515183.1_3'UTR|SH3BP2_ENST00000511747.1_Silent_p.T227T|SH3BP2_ENST00000503393.2_Silent_p.T284T|SH3BP2_ENST00000435136.2_Silent_p.T227T|SH3BP2_ENST00000452765.2_Silent_p.T227T	NM_003023.4	NP_003014.3	P78314	3BP2_HUMAN	SH3-domain binding protein 2	227					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)		SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		ACTCCTTTACCTCCAAGGGCC	0.677									Cherubism																													uc003gfi.3		NaN																	0				central_nervous_system(1)	1						c.(679-681)ACC>ACT		SH3-domain binding protein 2 isoform a							40.0	47.0	45.0					4																	2831314		2203	4300	6503	SO:0001819	synonymous_variant	6452	Cherubism	Familial Cancer Database	Familial Benign Giant-cell Tumor of the Jaw, Familial Multilocular Cystic Disease	signal transduction		SH3 domain binding|SH3/SH2 adaptor activity	g.chr4:2831314C>T	BC022996	CCDS33944.1, CCDS54715.1, CCDS54716.1	4p16.3	2013-02-14				ENSG00000087266		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	10825	protein-coding gene	gene with protein product		602104	"""Cherubism"""			9299232, 11381256	Standard	NM_003023		Approved	RES4-23, CRBM	uc003gfj.4	P78314		ENST00000356331.5:c.681C>T	4.37:g.2831314C>T						SH3BP2_uc011bvp.1_Silent_p.T255T|SH3BP2_uc003gfj.3_Silent_p.T284T|SH3BP2_uc003gfk.3_Silent_p.T227T|SH3BP2_uc003gfl.3_Silent_p.T160T|SH3BP2_uc003gfm.3_Silent_p.T202T	p.T227T	NM_001122681	NP_001116153	P78314	3BP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.164)	8	801	+			227					A6NNC2|B2R5R6|B4DT04|D3DVR0|D6R919|O00500|O15373|P78315	Silent	SNP	ENST00000356331.5	37	c.681C>T	CCDS33944.1																																																																																				0.677	SH3BP2-007	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362406.2		NM_003023		13	101	0	0	0	0.000151284	0	13	101		
C1QTNF7	114905	broad.mit.edu	37	4	15444248	15444248	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr4:15444248C>T	ENST00000444304.2	+	3	1021	c.695C>T	c.(694-696)tCg>tTg	p.S232L	C1QTNF7_ENST00000429690.1_Missense_Mutation_p.S232L|C1QTNF7_ENST00000295297.4_Missense_Mutation_p.S239L			Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	232	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein homooligomerization (GO:0051260)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						GATGTGGCTTCGGGGTCCACA	0.502																																						uc011bxb.1		NaN																	0					0						c.(694-696)TCG>TTG		C1q and tumor necrosis factor related protein 7							85.0	89.0	88.0					4																	15444248		2203	4300	6503	SO:0001583	missense	114905					collagen		g.chr4:15444248C>T	AF329839	CCDS3414.1, CCDS47025.1	4p15.3	2008-08-29			ENSG00000163145	ENSG00000163145			14342	protein-coding gene	gene with protein product							Standard	NM_001135170		Approved	CTRP7	uc003gnp.3	Q9BXJ2	OTTHUMG00000097095	ENST00000444304.2:c.695C>T	4.37:g.15444248C>T	ENSP00000388914:p.Ser232Leu					C1QTNF7_uc003gno.2_Missense_Mutation_p.S239L|C1QTNF7_uc003gnp.2_Missense_Mutation_p.S232L	p.S232L	NM_001135171	NP_001128643	Q9BXJ2	C1QT7_HUMAN			3	922	+			232			C1q.		B2RBT3|J3KPW3	Missense_Mutation	SNP	ENST00000444304.2	37	c.695C>T	CCDS3414.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692558	0.88735	.	.	ENSG00000163145	ENST00000295297;ENST00000429690;ENST00000444304	T;T;T	0.80653	-1.4;-1.4;-1.4	6.02	6.02	0.97574	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.000000	0.85682	D	0.000000	D	0.93618	0.7962	H	0.95982	3.75	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.94618	0.7810	9	.	.	.	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	232	Q9BXJ2	C1QT7_HUMAN	L	239;232;232	ENSP00000295297:S239L;ENSP00000410722:S232L;ENSP00000388914:S232L	.	S	+	2	0	C1QTNF7	15053346	1.000000	0.71417	0.967000	0.41034	0.576000	0.36127	7.788000	0.85771	2.865000	0.98341	0.655000	0.94253	TCG		0.502	C1QTNF7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000250891.2				60	96	0	0	0	0.000781405	0	60	96		
GRID2	2895	broad.mit.edu	37	4	94006340	94006340	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr4:94006340C>G	ENST00000282020.4	+	3	697	c.439C>G	c.(439-441)Cgc>Ggc	p.R147G	GRID2_ENST00000510992.1_Intron|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	147					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		TCTCTCAGTTCGCCCACCTGT	0.478																																						uc011cdt.1		NaN																	0				ovary(3)|skin(2)|large_intestine(1)	6						c.(439-441)CGC>GGC		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						98.0	94.0	95.0					4																	94006340		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94006340C>G	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.439C>G	4.37:g.94006340C>G	ENSP00000282020:p.Arg147Gly					GRID2_uc010ikx.2_Missense_Mutation_p.R147G|GRID2_uc011cdu.1_Intron|GRID2_uc011cdv.1_RNA	p.R147G	NM_001510	NP_001501	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	3	697	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	147			Extracellular (Potential).		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.439C>G	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.272600	0.59649	.	.	ENSG00000152208	ENST00000282020	D	0.91237	-2.81	5.23	3.46	0.39613	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.92906	0.7743	L	0.47190	1.495	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.81914	0.995;0.993	D	0.92195	0.5763	10	0.51188	T	0.08	.	14.4502	0.67379	0.2687:0.7313:0.0:0.0	.	147;88	O43424;B4DYB9	GRID2_HUMAN;.	G	147	ENSP00000282020:R147G	ENSP00000282020:R147G	R	+	1	0	GRID2	94225363	1.000000	0.71417	0.134000	0.22075	0.938000	0.57974	4.912000	0.63335	0.674000	0.31244	0.655000	0.94253	CGC		0.478	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2				5	27	0	0	0	0.000602214	0	5	27		
FBXW7	55294	broad.mit.edu	37	4	153244124	153244124	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr4:153244124G>C	ENST00000281708.4	-	12	3262	c.2033C>G	c.(2032-2034)tCa>tGa	p.S678*	FBXW7_ENST00000393956.3_Nonsense_Mutation_p.S502*|RP11-461L13.3_ENST00000603766.1_lincRNA|FBXW7_ENST00000263981.5_Nonsense_Mutation_p.S598*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.S678*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.S678*|FBXW7_ENST00000296555.5_Nonsense_Mutation_p.S560*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	678					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.S678*(2)|p.S560*(1)|p.S598*(1)|p.S439*(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CTTTGTGTTTGAGGCTCTGAT	0.493			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	uc003ims.2		NaN		Rec	yes		4	4q31.3	55294	Mis|N|D|F	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			colorectal|endometrial|T-ALL		6	Substitution - Nonsense(5)|Unknown(1)		lung(5)|haematopoietic_and_lymphoid_tissue(1)	haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308						c.(2032-2034)TCA>TGA		F-box and WD repeat domain containing 7 isoform							187.0	182.0	184.0					4																	153244124		2203	4300	6503	SO:0001587	stop_gained	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	g.chr4:153244124G>C	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.2033C>G	4.37:g.153244124G>C	ENSP00000281708:p.Ser678*					FBXW7_uc011cii.1_Nonsense_Mutation_p.S678*|FBXW7_uc003imt.2_Nonsense_Mutation_p.S678*|FBXW7_uc011cih.1_Nonsense_Mutation_p.S502*|FBXW7_uc003imq.2_Nonsense_Mutation_p.S598*|FBXW7_uc003imr.2_Nonsense_Mutation_p.S560*	p.S678*	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN			12	2182	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	678					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Nonsense_Mutation	SNP	ENST00000281708.4	37	c.2033C>G	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.655721	0.67586	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	.	.	.	5.67	5.67	0.87782	.	0.052026	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-8.4856	19.7667	0.96346	0.0:0.0:1.0:0.0	.	.	.	.	X	678;560;598;502	.	ENSP00000263981:S598X	S	-	2	0	FBXW7	153463574	1.000000	0.71417	0.985000	0.45067	0.990000	0.78478	9.837000	0.99465	2.681000	0.91329	0.655000	0.94253	TCA		0.493	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1				47	52	0	0	0	0.000781405	0	47	52		
GALNTL6	442117	broad.mit.edu	37	4	173269794	173269794	+	Silent	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr4:173269794G>A	ENST00000506823.1	+	5	1164	c.507G>A	c.(505-507)ggG>ggA	p.G169G	GALNTL6_ENST00000457021.1_3'UTR|GALNTL6_ENST00000508122.1_Silent_p.G152G	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	169	Catalytic subdomain A.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						GAACCCCAGGGAGTCTGATAG	0.403																																						uc003isv.2		NaN																	0				breast(2)|ovary(1)|skin(1)	4						c.(505-507)GGG>GGA		N-acetylgalactosaminyltransferase-like 6							123.0	119.0	121.0					4																	173269794		2203	4300	6503	SO:0001819	synonymous_variant	442117					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:173269794G>A		CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"""Glycosyltransferase family 2 domain containing"""	33844	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 6"""	615138	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"""				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.507G>A	4.37:g.173269794G>A							p.G169G	NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN			5	1243	+			169			Catalytic subdomain A.|Lumenal (Potential).		Q2L4S6	Silent	SNP	ENST00000506823.1	37	c.507G>A	CCDS34104.1																																																																																				0.403	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362395.1		NM_001034845		14	29	0	0	0	0.000219431	0	14	29		
RASA1	5921	broad.mit.edu	37	5	86645051	86645051	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr5:86645051C>G	ENST00000274376.6	+	8	1687	c.1123C>G	c.(1123-1125)Ctt>Gtt	p.L375V	RASA1_ENST00000512763.1_Missense_Mutation_p.L208V|RASA1_ENST00000456692.2_Missense_Mutation_p.L198V|RASA1_ENST00000506290.1_Missense_Mutation_p.L209V	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	375	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		CTGCAGTTTTCTTGTGAGGCC	0.333																																						uc003kiw.2		NaN																	0				upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5						c.(1123-1125)CTT>GTT		RAS p21 protein activator 1 isoform 1							92.0	97.0	95.0					5																	86645051		2203	4300	6503	SO:0001583	missense	5921				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	g.chr5:86645051C>G		CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.1123C>G	5.37:g.86645051C>G	ENSP00000274376:p.Leu375Val					RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Missense_Mutation_p.L198V|RASA1_uc011ctv.1_Missense_Mutation_p.L208V|RASA1_uc011ctw.1_Missense_Mutation_p.L209V|RASA1_uc010jaw.2_Missense_Mutation_p.L197V	p.L375V	NM_002890	NP_002881	P20936	RASA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)	8	1241	+		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	375			SH2 2.		B2R6W3|Q9UDI1	Missense_Mutation	SNP	ENST00000274376.6	37	c.1123C>G	CCDS34200.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396205	0.83011	.	.	ENSG00000145715	ENST00000274376;ENST00000534133;ENST00000456692;ENST00000512763;ENST00000506290	D;D;D;D	0.93247	-3.19;-3.19;-3.19;-3.19	5.78	5.78	0.91487	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.97458	0.9168	M	0.89715	3.055	0.80722	D	1	D;D;D;D;D	0.64830	0.994;0.994;0.994;0.986;0.994	D;D;D;D;D	0.72338	0.954;0.967;0.975;0.957;0.977	D	0.97752	1.0215	10	0.87932	D	0	.	20.0172	0.97481	0.0:1.0:0.0:0.0	.	209;208;209;198;375	E9PGC0;B4DTL2;B4DTX4;P20936-2;P20936	.;.;.;.;RASA1_HUMAN	V	375;408;198;208;209	ENSP00000274376:L375V;ENSP00000411221:L198V;ENSP00000422008:L208V;ENSP00000420905:L209V	ENSP00000274376:L375V	L	+	1	0	RASA1	86680807	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.026000	0.70873	2.723000	0.93209	0.585000	0.79938	CTT		0.333	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1		NM_002890		8	32	0	0	0	0.000157383	0	8	32		
FSTL4	23105	broad.mit.edu	37	5	132736544	132736544	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr5:132736544G>A	ENST00000265342.7	-	4	544	c.295C>T	c.(295-297)Cct>Tct	p.P99S		NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	99	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCGCACACAGGCACGTAGCTG	0.602																																						uc003kyn.1		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(295-297)CCT>TCT		follistatin-like 4 precursor							47.0	47.0	47.0					5																	132736544		2203	4300	6503	SO:0001583	missense	23105					extracellular region	calcium ion binding	g.chr5:132736544G>A	AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.295C>T	5.37:g.132736544G>A	ENSP00000265342:p.Pro99Ser						p.P99S	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	513	-		all_cancers(142;0.244)	99			Kazal-like.		Q8TBU0|Q9UPU1	Missense_Mutation	SNP	ENST00000265342.7	37	c.295C>T	CCDS34238.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.602220	0.87055	.	.	ENSG00000053108	ENST00000265342;ENST00000510685	T;T	0.12672	2.66;2.66	5.57	5.57	0.84162	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.054939	0.85682	D	0.000000	T	0.48732	0.1516	M	0.91818	3.245	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59005	-0.7535	10	0.87932	D	0	-19.3626	18.5328	0.90999	0.0:0.0:1.0:0.0	.	99	Q6MZW2	FSTL4_HUMAN	S	99;101	ENSP00000265342:P99S;ENSP00000427662:P101S	ENSP00000265342:P99S	P	-	1	0	FSTL4	132764443	1.000000	0.71417	0.963000	0.40424	0.695000	0.40330	9.261000	0.95576	2.638000	0.89438	0.655000	0.94253	CCT		0.602	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1		XM_048786		19	46	0	0	0	0.000175454	0	19	46		
KDM3B	51780	broad.mit.edu	37	5	137727502	137727502	+	Silent	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr5:137727502G>A	ENST00000314358.5	+	8	2381	c.2181G>A	c.(2179-2181)tcG>tcA	p.S727S	KDM3B_ENST00000394866.1_Silent_p.S383S|KDM3B_ENST00000542866.1_Intron	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	727	Ser-rich.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GCTCCAGCTCGCCCACCAGCA	0.607																																						uc003lcy.1		NaN																	0				ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						c.(2179-2181)TCG>TCA		jumonji domain containing 1B							52.0	60.0	57.0					5																	137727502		2201	4300	6501	SO:0001819	synonymous_variant	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137727502G>A	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.2181G>A	5.37:g.137727502G>A						KDM3B_uc010jew.1_Silent_p.S383S|KDM3B_uc011cys.1_Intron	p.S727S	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN			8	2381	+			727			Ser-rich.		A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Silent	SNP	ENST00000314358.5	37	c.2181G>A	CCDS34242.1																																																																																				0.607	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1		NM_016604		10	77	0	0	0	0.000442599	0	10	77		
PCDHGA3	56112	broad.mit.edu	37	5	140725479	140725479	+	Missense_Mutation	SNP	C	C	T	rs62378406		TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr5:140725479C>T	ENST00000253812.6	+	1	1879	c.1879C>T	c.(1879-1881)Cgc>Tgc	p.R627C	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	627	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCGAGGTGCGCACGGCGCG	0.697																																						uc003ljm.1		NaN																	0				breast(1)	1						c.(1879-1881)CGC>TGC		protocadherin gamma subfamily A, 3 isoform 1							8.0	12.0	11.0					5																	140725479		1994	4007	6001	SO:0001583	missense	56112				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140725479C>T	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.1879C>T	5.37:g.140725479C>T	ENSP00000253812:p.Arg627Cys					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Missense_Mutation_p.R387C|PCDHGA3_uc011dap.1_Missense_Mutation_p.R627C	p.R627C	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1879	+			627			Extracellular (Potential).|Cadherin 6.		Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	c.1879C>T	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	15.44	2.834909	0.50951	.	.	ENSG00000254245	ENST00000253812	T	0.52754	0.65	5.27	4.27	0.50696	Cadherin (4);Cadherin-like (1);	0.000000	0.28940	U	0.013645	T	0.63885	0.2549	H	0.96333	3.805	0.35238	D	0.777526	P;P	0.49358	0.923;0.753	B;B	0.43680	0.427;0.26	T	0.82151	-0.0599	10	0.72032	D	0.01	.	12.9672	0.58492	0.2785:0.7215:0.0:0.0	.	627;627	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	C	627	ENSP00000253812:R627C	ENSP00000253812:R627C	R	+	1	0	PCDHGA3	140705663	0.757000	0.28394	1.000000	0.80357	0.995000	0.86356	0.656000	0.24948	2.636000	0.89361	0.558000	0.71614	CGC		0.697	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1		NM_018916		15	61	0	0	0	0.000229342	0	15	61		
COL23A1	91522	broad.mit.edu	37	5	177673290	177673290	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr5:177673290C>T	ENST00000390654.3	-	24	1735	c.1378G>A	c.(1378-1380)Ggc>Agc	p.G460S		NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	460	Collagen-like 4.|Gly-rich.				collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		CCAATAAGGCCCGGTGGGCCA	0.557																																						uc003mje.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(1378-1380)GGC>AGC		collagen, type XXIII, alpha 1							33.0	38.0	36.0					5																	177673290		1847	4051	5898	SO:0001583	missense	91522					collagen|integral to membrane|plasma membrane	protein binding	g.chr5:177673290C>T	AL137461	CCDS4436.1	5q35.3	2013-01-16			ENSG00000050767	ENSG00000050767		"""Collagens"""	22990	protein-coding gene	gene with protein product		610043				12644459	Standard	NM_173465		Approved	DKFZp434K0621	uc021yiz.1	Q86Y22	OTTHUMG00000130890	ENST00000390654.3:c.1378G>A	5.37:g.177673290C>T	ENSP00000375069:p.Gly460Ser					COL23A1_uc010jkt.2_Missense_Mutation_p.G342S	p.G460S	NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)	24	1736	-	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	460			Extracellular (Potential).|Collagen-like 4.|Gly-rich.		Q8IVR4|Q9NT93	Missense_Mutation	SNP	ENST00000390654.3	37	c.1378G>A	CCDS4436.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.338400	0.60963	.	.	ENSG00000050767	ENST00000390654	D	0.99607	-6.27	4.95	4.95	0.65309	.	0.000000	0.64402	D	0.000003	D	0.99654	0.9872	H	0.97390	3.995	0.80722	D	1	D	0.53312	0.959	P	0.54346	0.749	D	0.97644	1.0150	10	0.87932	D	0	-7.049	13.7245	0.62750	0.0:1.0:0.0:0.0	.	460	Q86Y22	CONA1_HUMAN	S	460	ENSP00000375069:G460S	ENSP00000375069:G460S	G	-	1	0	COL23A1	177605896	0.998000	0.40836	0.924000	0.36721	0.972000	0.66771	5.133000	0.64764	2.294000	0.77228	0.655000	0.94253	GGC		0.557	COL23A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253475.1		NM_173465		3	6	0	0	0	0.00024832	0	3	6		
ECI2	10455	broad.mit.edu	37	6	4117578	4117578	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr6:4117578C>T	ENST00000380118.3	-	9	1029	c.993G>A	c.(991-993)tgG>tgA	p.W331*	ECI2_ENST00000380125.2_Nonsense_Mutation_p.W301*|C6orf201_ENST00000430835.2_Intron|C6orf201_ENST00000333388.5_Intron|C6orf201_ENST00000380175.4_Intron|ECI2_ENST00000465828.1_Nonsense_Mutation_p.W301*|ECI2_ENST00000361538.2_Nonsense_Mutation_p.W301*|ECI2_ENST00000413766.2_Nonsense_Mutation_p.W164*			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	331					fatty acid catabolic process (GO:0009062)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|fatty-acyl-CoA binding (GO:0000062)|receptor binding (GO:0005102)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						TCAGCCTGGTCCAGACTTCTT	0.383																																						uc003mwf.2		NaN																	0					0						c.(991-993)TGG>TGA		peroxisomal D3,D2-enoyl-CoA isomerase isoform 2							104.0	109.0	107.0					6																	4117578		2203	4300	6503	SO:0001587	stop_gained	10455				fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding	g.chr6:4117578C>T	AF069301	CCDS4490.1, CCDS43420.1, CCDS43420.2	6p24.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000198721	ENSG00000198721			14601	protein-coding gene	gene with protein product	"""acyl-Coenzyme A binding domain containing 2"", "" Hepatocellular carcinoma-associated antigen 88"""	608024	"""peroxisomal D3,D2-enoyl-CoA isomerase"""	PECI		10419495	Standard	NM_206836		Approved	ACBD2, DRS1, HCA88	uc003mwf.3	O75521	OTTHUMG00000014158	ENST00000380118.3:c.993G>A	6.37:g.4117578C>T	ENSP00000369461:p.Trp331*					C6orf201_uc003mwa.3_Intron|C6orf201_uc003mvz.3_Intron|C6orf201_uc011dhw.1_Intron|C6orf201_uc003mwb.3_Intron|PECI_uc003mwc.2_Nonsense_Mutation_p.W164*|PECI_uc003mwd.2_Nonsense_Mutation_p.W301*|PECI_uc003mwe.2_Nonsense_Mutation_p.W178*|PECI_uc010jnr.1_RNA	p.W331*	NM_206836	NP_996667	O75521	ECI2_HUMAN			9	1030	-	Ovarian(93;0.0925)	all_hematologic(90;0.0895)	331					Q5JYK5|Q5JYK7|Q7L124|Q8N0X0|Q9BUE9|Q9H0T9|Q9NQH1|Q9NYH7|Q9UN55	Nonsense_Mutation	SNP	ENST00000380118.3	37	c.993G>A	CCDS43420.2	.	.	.	.	.	.	.	.	.	.	C	37	6.250510	0.97412	.	.	ENSG00000198721	ENST00000380118;ENST00000380125;ENST00000413766;ENST00000361538;ENST00000465828	.	.	.	6.17	6.17	0.99709	.	0.107998	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.4432	0.94831	0.0:1.0:0.0:0.0	.	.	.	.	X	331;301;164;301;301	.	ENSP00000354737:W301X	W	-	3	0	ECI2	4062577	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	5.305000	0.65750	2.941000	0.99782	0.655000	0.94253	TGG		0.383	ECI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039716.4		NM_006117		34	54	0	0	0	0.000191422	0	34	54		
HIST1H2BF	8343	broad.mit.edu	37	6	26200019	26200019	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr6:26200019C>G	ENST00000359985.1	+	1	272	c.233C>G	c.(232-234)gCt>gGt	p.A78G	HIST1H2AD_ENST00000341023.1_5'Flank|HIST1H3D_ENST00000377831.5_5'Flank|HIST1H3D_ENST00000356476.2_5'Flank	NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	78					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				GCTGGCGAGGCTTCCCGCCTG	0.622																																						uc003ngx.2		NaN																	0					0						c.(232-234)GCT>GGT		histone cluster 1, H2bf							139.0	133.0	135.0					6																	26200019		2203	4300	6503	SO:0001583	missense	8343				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26200019C>G	Z80779	CCDS4592.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197846	ENSG00000277224		"""Histones / Replication-dependent"""	4752	protein-coding gene	gene with protein product		602804	"""H2B histone family, member G"", ""histone 1, H2bf"""	H2BFG		9119399, 12408966	Standard	NM_003522		Approved	H2B/g	uc003ngx.3	P62807	OTTHUMG00000014445	ENST00000359985.1:c.233C>G	6.37:g.26200019C>G	ENSP00000353074:p.Ala78Gly					HIST1H3D_uc003ngv.2_5'Flank|HIST1H2AD_uc003ngw.2_5'Flank	p.A78G	NM_003522	NP_003513	P62807	H2B1C_HUMAN			1	233	+		all_hematologic(11;0.196)	78					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000359985.1	37	c.233C>G	CCDS4592.1	.	.	.	.	.	.	.	.	.	.	.	13.84	2.357429	0.41801	.	.	ENSG00000197846	ENST00000359985	D	0.81739	-1.53	3.89	3.89	0.44902	.	0.000000	0.41097	D	0.000954	D	0.84529	0.5492	.	.	.	0.38805	D	0.955288	.	.	.	.	.	.	D	0.87274	0.2288	7	0.72032	D	0.01	.	15.7145	0.77658	0.0:1.0:0.0:0.0	.	.	.	.	G	78	ENSP00000353074:A78G	ENSP00000353074:A78G	A	+	2	0	HIST1H2BF	26307998	1.000000	0.71417	0.766000	0.31476	0.010000	0.07245	4.809000	0.62591	2.102000	0.63906	0.650000	0.86243	GCT		0.622	HIST1H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040108.1		NM_003522		17	142	0	0	0	0.00074312	0	17	142		
BRPF3	27154	broad.mit.edu	37	6	36168333	36168333	+	Silent	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr6:36168333G>A	ENST00000357641.6	+	2	487	c.234G>A	c.(232-234)aaG>aaA	p.K78K	BRPF3_ENST00000534400.1_Silent_p.K78K|BRPF3_ENST00000443324.2_Silent_p.K78K|BRPF3_ENST00000339717.7_Silent_p.K78K|BRPF3_ENST00000543502.1_Silent_p.K78K|BRPF3_ENST00000534694.1_Silent_p.K78K	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	78					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						ATAGTAACAAGGAAAACAGTG	0.463																																						uc003olv.3		NaN																	0				ovary(1)|skin(1)	2						c.(232-234)AAG>AAA		bromodomain and PHD finger containing, 3							97.0	90.0	93.0					6																	36168333		2203	4300	6503	SO:0001819	synonymous_variant	27154				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr6:36168333G>A	AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.234G>A	6.37:g.36168333G>A						BRPF3_uc010jwb.2_Silent_p.K78K|BRPF3_uc011dtj.1_RNA|BRPF3_uc010jwc.2_RNA|BRPF3_uc011dtk.1_Silent_p.K78K	p.K78K	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN			2	458	+			78					A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Silent	SNP	ENST00000357641.6	37	c.234G>A	CCDS34437.1																																																																																				0.463	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3		NM_015695		11	75	0	0	0	0.000673444	0	11	75		
MLIP	90523	broad.mit.edu	37	6	54095691	54095691	+	Silent	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr6:54095691C>T	ENST00000274897.5	+	11	1406	c.1293C>T	c.(1291-1293)ctC>ctT	p.L431L	MLIP_ENST00000502396.1_Silent_p.L966L|MLIP_ENST00000370877.2_Intron|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000358276.5_Intron|MLIP_ENST00000370876.2_Intron	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	431						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						CTCACACCCTCCTCAGTCACA	0.463																																						uc003pcg.3		NaN																	0					0						c.(1291-1293)CTC>CTT		hypothetical protein LOC90523							170.0	150.0	156.0					6																	54095691		2203	4300	6503	SO:0001819	synonymous_variant	90523					nuclear envelope|PML body	protein binding	g.chr6:54095691C>T	AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"""muscle-enriched A-type lamin interacting protein"""	614106	"""chromosome 6 open reading frame 142"""	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.1293C>T	6.37:g.54095691C>T						C6orf142_uc003pch.3_Intron|C6orf142_uc011dxa.1_Silent_p.L966L	p.L431L	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN			11	1406	+	Lung NSC(77;0.0317)		431					B7Z2N0|D6RE05|Q96H08|Q96NF7	Silent	SNP	ENST00000274897.5	37	c.1293C>T	CCDS4954.1																																																																																				0.463	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040979.3		NM_138569		12	60	0	0	0	6.40141e-05	0	12	60		
ZNF451	26036	broad.mit.edu	37	6	57013396	57013396	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr6:57013396C>T	ENST00000370706.4	+	10	2757	c.2513C>T	c.(2512-2514)tCa>tTa	p.S838L	RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.S838L|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000586466.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.S838L|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	838					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GCTAGTGCCTCACATACAGAG	0.373																																						uc003pdm.1		NaN																	0				ovary(1)|pancreas(1)	2						c.(2512-2514)TCA>TTA		zinc finger protein 451 isoform 1							65.0	65.0	65.0					6																	57013396		2203	4299	6502	SO:0001583	missense	26036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:57013396C>T	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.2513C>T	6.37:g.57013396C>T	ENSP00000359740:p.Ser838Leu					ZNF451_uc003pdl.2_Missense_Mutation_p.S838L|ZNF451_uc003pdn.1_Missense_Mutation_p.S838L|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.S838L	p.S838L	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		10	2737	+	Lung NSC(77;0.145)		838					Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Missense_Mutation	SNP	ENST00000370706.4	37	c.2513C>T	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	C	6.367	0.435910	0.12104	.	.	ENSG00000112200	ENST00000370706;ENST00000357489;ENST00000491832	T;T;T	0.20463	3.29;2.07;3.29	5.32	4.46	0.54185	.	0.410614	0.22614	N	0.057793	T	0.10423	0.0255	L	0.51422	1.61	0.39710	D	0.971319	P;B;B;B	0.34724	0.465;0.335;0.335;0.335	B;B;B;B	0.31101	0.124;0.086;0.086;0.086	T	0.03829	-1.1000	10	0.72032	D	0.01	-4.9723	12.5754	0.56362	0.0:0.9226:0.0:0.0774	.	838;838;838;838	Q9Y4E5-2;Q9Y4E5;E9PH99;Q4KMR5	.;ZN451_HUMAN;.;.	L	838	ENSP00000359740:S838L;ENSP00000350083:S838L;ENSP00000421645:S838L	ENSP00000350083:S838L	S	+	2	0	ZNF451	57121355	0.509000	0.26163	0.008000	0.14137	0.035000	0.12851	2.334000	0.43920	1.382000	0.46385	-0.142000	0.14014	TCA		0.373	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2		NM_015555		8	13	0	0	0	0.000274275	0	8	13		
ASCC3	10973	broad.mit.edu	37	6	101049784	101049784	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr6:101049784T>G	ENST00000369162.2	-	34	5549	c.5205A>C	c.(5203-5205)ttA>ttC	p.L1735F		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1735	Helicase C-terminal 2. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TCTCTGCATTTAAGTGGTCAG	0.368																																						uc003pqk.2		NaN																	0				ovary(5)|skin(1)	6						c.(5203-5205)TTA>TTC		activating signal cointegrator 1 complex subunit							132.0	131.0	131.0					6																	101049784		2203	4300	6503	SO:0001583	missense	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101049784T>G	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.5205A>C	6.37:g.101049784T>G	ENSP00000358159:p.Leu1735Phe						p.L1735F	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	34	5534	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	1735			Helicase C-terminal 2.		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	c.5205A>C	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	T	12.30	1.897479	0.33535	.	.	ENSG00000112249	ENST00000369162	T	0.53206	0.63	5.74	3.03	0.35002	Helicase, C-terminal (1);	0.000000	0.64402	D	0.000004	T	0.13114	0.0318	L	0.28740	0.885	0.80722	D	1	B	0.31599	0.33	B	0.29524	0.103	T	0.06058	-1.0848	10	0.07482	T	0.82	.	9.692	0.40134	0.0:0.2114:0.0:0.7886	.	1735	Q8N3C0	HELC1_HUMAN	F	1735	ENSP00000358159:L1735F	ENSP00000358159:L1735F	L	-	3	2	ASCC3	101156505	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.391000	0.34475	1.007000	0.39238	0.460000	0.39030	TTA		0.368	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2		NM_006828		3	53	0	0	0	6.4e-05	0	3	53		
ROS1	6098	broad.mit.edu	37	6	117714423	117714423	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr6:117714423C>A	ENST00000368508.3	-	11	1424	c.1226G>T	c.(1225-1227)aGt>aTt	p.S409I	ROS1_ENST00000368507.3_Missense_Mutation_p.S418I|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	409					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TTGAGGTGCACTAATAGAGGG	0.348			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	uc003pxp.1		NaN		Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	GOPC|ROS1		glioblastoma|NSCLC		0				lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25						c.(1225-1227)AGT>ATT		proto-oncogene c-ros-1 protein precursor							283.0	300.0	295.0					6																	117714423		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117714423C>A	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.1226G>T	6.37:g.117714423C>A	ENSP00000357494:p.Ser409Ile					ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	p.S409I	NM_002944	NP_002935	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	11	1425	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	409			Extracellular (Potential).		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.1226G>T	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	9.209	1.030394	0.19512	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.91464	-2.85;-2.85	5.55	-5.6	0.02497	.	1.595340	0.03218	N	0.177152	T	0.50222	0.1603	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.55431	-0.8142	10	0.36615	T	0.2	.	0.6395	0.00808	0.3574:0.1725:0.2683:0.2018	.	409	P08922	ROS1_HUMAN	I	409;418	ENSP00000357494:S409I;ENSP00000357493:S418I	ENSP00000357493:S418I	S	-	2	0	ROS1	117821116	0.000000	0.05858	0.000000	0.03702	0.806000	0.45545	0.002000	0.13061	-1.196000	0.02676	-0.302000	0.09304	AGT		0.348	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1				13	239	1	0	7.93312e-07	0.000219431	9.29308e-06	13	239		
STX11	8676	broad.mit.edu	37	6	144508445	144508445	+	Silent	SNP	C	C	G	rs145774130	byFrequency	TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr6:144508445C>G	ENST00000367568.4	+	2	864	c.681C>G	c.(679-681)ctC>ctG	p.L227L		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	227	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				cytotoxic T cell degranulation (GO:0043316)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|natural killer cell degranulation (GO:0043320)|neutrophil degranulation (GO:0043312)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	SNAP receptor activity (GO:0005484)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		TACACGAGCTCTTCTTGCAGA	0.652									Familial Hemophagocytic Lymphohistiocytosis																													uc003qks.3		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(679-681)CTC>CTG		syntaxin 11							51.0	47.0	49.0					6																	144508445		2203	4300	6503	SO:0001819	synonymous_variant	8676	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity	g.chr6:144508445C>G	AF044309	CCDS5205.1	6q24.1	2014-09-17			ENSG00000135604	ENSG00000135604			11429	protein-coding gene	gene with protein product		605014				9553086	Standard	NM_003764		Approved		uc003qks.4	O75558	OTTHUMG00000015739	ENST00000367568.4:c.681C>G	6.37:g.144508445C>G							p.L227L	NM_003764	NP_003755	O75558	STX11_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)	2	873	+			227			t-SNARE coiled-coil homology.		E1P598|O75378|O95148|Q5TCL6	Silent	SNP	ENST00000367568.4	37	c.681C>G	CCDS5205.1																																																																																				0.652	STX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042544.1				7	30	0	0	0	8.12818e-05	0	7	30		
FIGNL1	63979	broad.mit.edu	37	7	50513419	50513419	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr7:50513419C>T	ENST00000419119.1	-	2	3120	c.1567G>A	c.(1567-1569)Gaa>Aaa	p.E523K	FIGNL1_ENST00000433017.1_Missense_Mutation_p.E523K|FIGNL1_ENST00000356889.4_Missense_Mutation_p.E523K|FIGNL1_ENST00000395556.2_Missense_Mutation_p.E523K			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	523					ATP metabolic process (GO:0046034)|cellular response to ionizing radiation (GO:0071479)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|regulation of cell cycle (GO:0051726)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)	p.E523*(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				ACTAAAAATTCTGTTTTTATC	0.413																																						uc003tpc.2		NaN																	1	Substitution - Nonsense(1)		large_intestine(1)	ovary(3)	3						c.(1567-1569)GAA>AAA		fidgetin-like 1							87.0	89.0	88.0					7																	50513419		2203	4299	6502	SO:0001583	missense	63979				ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity	g.chr7:50513419C>T	AK023142	CCDS5510.1	7p12.2	2010-04-21			ENSG00000132436	ENSG00000132436		"""ATPases / AAA-type"""	13286	protein-coding gene	gene with protein product		615383					Standard	XM_005271783		Approved		uc003tpc.3	Q6PIW4	OTTHUMG00000022866	ENST00000419119.1:c.1567G>A	7.37:g.50513419C>T	ENSP00000410811:p.Glu523Lys					FIGNL1_uc003tpb.2_Missense_Mutation_p.E412K|FIGNL1_uc003tpd.2_Missense_Mutation_p.E523K|FIGNL1_uc003tpe.2_Missense_Mutation_p.E523K|FIGNL1_uc010kyy.2_Missense_Mutation_p.E523K	p.E523K	NM_001042762	NP_001036227	Q6PIW4	FIGL1_HUMAN			4	1944	-	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)	523					D3DVM6|Q86V18|Q8ND59|Q9H8P1|Q9H917	Missense_Mutation	SNP	ENST00000419119.1	37	c.1567G>A	CCDS5510.1	.	.	.	.	.	.	.	.	.	.	C	33	5.227660	0.95173	.	.	ENSG00000132436	ENST00000356889;ENST00000395556;ENST00000433017;ENST00000419119	D;D;D;D	0.92911	-3.13;-3.13;-3.13;-3.13	6.17	6.17	0.99709	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.97049	0.9036	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96993	0.9723	10	0.87932	D	0	-22.9379	19.8676	0.96824	0.0:1.0:0.0:0.0	.	523	Q6PIW4	FIGL1_HUMAN	K	523	ENSP00000349356:E523K;ENSP00000378924:E523K;ENSP00000399997:E523K;ENSP00000410811:E523K	ENSP00000349356:E523K	E	-	1	0	FIGNL1	50480913	1.000000	0.71417	0.961000	0.40146	0.909000	0.53808	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GAA		0.413	FIGNL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342579.1		NM_001042762		29	111	0	0	0	0.000878237	0	29	111		
TBL2	26608	broad.mit.edu	37	7	72988323	72988323	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr7:72988323T>C	ENST00000305632.5	-	3	632	c.391A>G	c.(391-393)Aga>Gga	p.R131G	TBL2_ENST00000452475.1_Missense_Mutation_p.R131G|TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000432538.1_Missense_Mutation_p.R95G	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	131							poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				ACGTTGGCTCTCATGCTGCGG	0.602																																						uc003tyh.2		NaN																	0					0						c.(391-393)AGA>GGA		transducin (beta)-like 2							149.0	110.0	123.0					7																	72988323		2203	4300	6503	SO:0001583	missense	26608							g.chr7:72988323T>C	AF056183	CCDS5551.1	7q11.23	2013-01-10			ENSG00000106638	ENSG00000106638		"""WD repeat domain containing"""	11586	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 13"""	605842				9860302, 10575226	Standard	XM_006715923		Approved	WS-betaTRP, WBSCR13, DKFZP43N024	uc003tyh.3	Q9Y4P3	OTTHUMG00000023427	ENST00000305632.5:c.391A>G	7.37:g.72988323T>C	ENSP00000307260:p.Arg131Gly					TBL2_uc011kex.1_Missense_Mutation_p.R95G|TBL2_uc010lbg.2_Missense_Mutation_p.R36G|TBL2_uc003tyi.2_5'UTR|TBL2_uc011key.1_Missense_Mutation_p.R2G|TBL2_uc010lbh.2_Missense_Mutation_p.R36G	p.R131G	NM_012453	NP_036585	Q9Y4P3	TBL2_HUMAN			3	525	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	131					Q9UQE2	Missense_Mutation	SNP	ENST00000305632.5	37	c.391A>G	CCDS5551.1	.	.	.	.	.	.	.	.	.	.	T	15.20	2.761989	0.49468	.	.	ENSG00000106638	ENST00000305632;ENST00000541783;ENST00000432538;ENST00000452475	T;T;T	0.29917	1.55;1.55;1.55	5.3	0.948	0.19561	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.52661	0.1748	M	0.80422	2.495	0.53005	D	0.999968	D;D	0.89917	1.0;1.0	D;D	0.71184	0.972;0.972	T	0.56649	-0.7944	10	0.56958	D	0.05	-12.6767	12.2067	0.54356	0.0:0.0:0.4127:0.5873	.	95;131	E9PF19;Q9Y4P3	.;TBL2_HUMAN	G	131;131;95;131	ENSP00000307260:R131G;ENSP00000413979:R95G;ENSP00000407371:R131G	ENSP00000307260:R131G	R	-	1	2	TBL2	72626259	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.172000	0.31908	0.277000	0.22141	0.459000	0.35465	AGA		0.602	TBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252233.3		NM_012453		8	104	0	0	0	0.000157383	0	8	104		
SLC25A40	55972	broad.mit.edu	37	7	87473129	87473129	+	Silent	SNP	T	T	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr7:87473129T>C	ENST00000341119.5	-	9	1027	c.681A>G	c.(679-681)aaA>aaG	p.K227K		NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40	227					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					ATAAACCAGATTTCTCACATA	0.294																																						uc003uje.2		NaN																	0				haematopoietic_and_lymphoid_tissue(1)	1						c.(679-681)AAA>AAG		mitochondrial carrier family protein							107.0	111.0	109.0					7																	87473129		2203	4294	6497	SO:0001819	synonymous_variant	55972				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr7:87473129T>C	AF125531	CCDS5610.1	7q21.12	2013-05-22			ENSG00000075303	ENSG00000075303		"""Solute carriers"""	29680	protein-coding gene	gene with protein product		610821				16949250	Standard	NM_018843		Approved	MCFP	uc003uje.3	Q8TBP6	OTTHUMG00000131033	ENST00000341119.5:c.681A>G	7.37:g.87473129T>C							p.K227K	NM_018843	NP_061331	Q8TBP6	S2540_HUMAN			9	1032	-	Esophageal squamous(14;0.00202)		227					A8K483|D6W5P6|Q53GB1|Q9UHR1	Silent	SNP	ENST00000341119.5	37	c.681A>G	CCDS5610.1																																																																																				0.294	SLC25A40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253677.5		NM_018843		12	20	0	0	0	0.000151284	0	12	20		
PON2	5445	broad.mit.edu	37	7	95041045	95041045	+	Silent	SNP	A	A	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr7:95041045A>G	ENST00000222572.3	-	5	660	c.414T>C	c.(412-414)aaT>aaC	p.N138N	PON2_ENST00000536183.1_Silent_p.N159N|PON2_ENST00000483292.1_5'Flank|PON2_ENST00000433091.2_Silent_p.N126N			Q15165	PON2_HUMAN	paraoxonase 2	138					aromatic compound catabolic process (GO:0019439)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arylesterase activity (GO:0004064)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			TTTCCACTGTATTCTTGAATT	0.348																																					GBM(42;803 823 13649 23368 31463)	uc003unv.2		NaN																	0					0						c.(412-414)AAT>AAC		paraoxonase 2 isoform 1							61.0	64.0	63.0					7																	95041045		2203	4300	6503	SO:0001819	synonymous_variant	5445				aromatic compound catabolic process	extracellular region|plasma membrane	arylesterase activity|identical protein binding|metal ion binding	g.chr7:95041045A>G	M63012, AF001601	CCDS5640.1, CCDS47644.1	7q21.3	2014-03-14			ENSG00000105854	ENSG00000105854	3.1.1.2	"""Paraoxonases"""	9205	protein-coding gene	gene with protein product	"""paraoxonase nirs"", ""arylesterase 2"""	602447				8661009, 9714608	Standard	XM_005250453		Approved		uc003unv.3	Q15165	OTTHUMG00000153948	ENST00000222572.3:c.414T>C	7.37:g.95041045A>G						PON2_uc003unu.2_Silent_p.N126N|PON2_uc010lfk.2_RNA|PON2_uc003unw.2_Silent_p.N51N	p.N138N	NM_000305	NP_000296	Q15165	PON2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		5	535	-	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		138					A4D1H7|B2RCP9|B4DJD5|O15114|O15115|O75856|Q5FBX7|Q86YL0	Silent	SNP	ENST00000222572.3	37	c.414T>C	CCDS5640.1																																																																																				0.348	PON2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333142.1		NM_000305		6	32	0	0	0	3.59834e-05	0	6	32		
SMURF1	57154	broad.mit.edu	37	7	98639810	98639810	+	Silent	SNP	G	G	A	rs367909690		TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr7:98639810G>A	ENST00000361125.1	-	13	1699	c.1380C>T	c.(1378-1380)taC>taT	p.Y460Y	SMURF1_ENST00000361368.2_Silent_p.Y434Y|AC004893.11_ENST00000468960.2_RNA	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	460	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of ossification (GO:0030279)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein export from nucleus (GO:0006611)|protein localization to cell surface (GO:0034394)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activin binding (GO:0048185)|I-SMAD binding (GO:0070411)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			GGAAGAGCCCGTAATAAGGAT	0.388																																						uc003upu.1		NaN																	0				skin(2)|ovary(1)|lung(1)	4						c.(1378-1380)TAC>TAT		Smad ubiquitination regulatory factor 1 isoform		G	,,	0,4406		0,0,2203	77.0	77.0	77.0		1302,1380,1302	-6.7	0.1	7		77	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	SMURF1	NM_001199847.1,NM_020429.2,NM_181349.2	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	434/729,460/758,434/732	98639810	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57154				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity	g.chr7:98639810G>A	AB046845	CCDS34689.1, CCDS34690.1	7q21.1-q31.1	2004-07-29			ENSG00000198742	ENSG00000198742			16807	protein-coding gene	gene with protein product		605568				10458166	Standard	NM_020429		Approved	KIAA1625	uc003upu.2	Q9HCE7	OTTHUMG00000150272	ENST00000361125.1:c.1380C>T	7.37:g.98639810G>A						SMURF1_uc003upv.1_Silent_p.Y434Y|SMURF1_uc003upt.2_Silent_p.Y434Y	p.Y460Y	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)		13	1700	-	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		460			HECT.		A4D279|B7ZMB6|B9EGV3|O75853|Q547Q3|Q9UJT8	Silent	SNP	ENST00000361125.1	37	c.1380C>T	CCDS34690.1																																																																																				0.388	SMURF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000335001.2		NM_020429		11	120	0	0	0	0.000219431	0	11	120		
RELN	5649	broad.mit.edu	37	7	103214705	103214705	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr7:103214705C>T	ENST00000428762.1	-	30	4504	c.4345G>A	c.(4345-4347)Gag>Aag	p.E1449K	RELN_ENST00000424685.2_Missense_Mutation_p.E1449K|RELN_ENST00000343529.5_Missense_Mutation_p.E1449K	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1449					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCGAACATCTCATTGTGATTG	0.458																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NaN																	0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(4345-4347)GAG>AAG		reelin isoform a							111.0	91.0	98.0					7																	103214705		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103214705C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.4345G>A	7.37:g.103214705C>T	ENSP00000392423:p.Glu1449Lys					RELN_uc010liz.2_Missense_Mutation_p.E1449K	p.E1449K	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	30	4505	-			1449					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.4345G>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.026276	0.75390	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.26373	1.74;1.74;1.74	5.51	4.63	0.57726	.	0.159217	0.56097	N	0.000038	T	0.26048	0.0635	L	0.53249	1.67	0.53688	D	0.999975	B;B	0.30193	0.174;0.272	B;B	0.28305	0.088;0.039	T	0.03335	-1.1047	10	0.33141	T	0.24	.	14.589	0.68351	0.0:0.9295:0.0:0.0705	.	1449;1449	P78509-2;P78509	.;RELN_HUMAN	K	1449	ENSP00000392423:E1449K;ENSP00000345694:E1449K;ENSP00000388446:E1449K	ENSP00000345694:E1449K	E	-	1	0	RELN	103001941	1.000000	0.71417	0.985000	0.45067	0.952000	0.60782	7.445000	0.80570	1.470000	0.48102	0.655000	0.94253	GAG		0.458	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1		NM_005045		6	58	0	0	0	8.12818e-05	0	6	58		
RELN	5649	broad.mit.edu	37	7	103275933	103275933	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr7:103275933C>G	ENST00000428762.1	-	19	2563	c.2404G>C	c.(2404-2406)Gat>Cat	p.D802H	RELN_ENST00000424685.2_Missense_Mutation_p.D802H|RELN_ENST00000343529.5_Missense_Mutation_p.D802H	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	802					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATCCCATTATCATAAGAATAA	0.438																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NaN																	0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(2404-2406)GAT>CAT		reelin isoform a							96.0	102.0	100.0					7																	103275933		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103275933C>G		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.2404G>C	7.37:g.103275933C>G	ENSP00000392423:p.Asp802His					RELN_uc010liz.2_Missense_Mutation_p.D802H	p.D802H	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	19	2564	-			802			BNR 2.		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.2404G>C	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439920	0.83885	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.33865	1.39;1.39;1.39	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.63450	0.2512	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.62840	-0.6769	10	0.87932	D	0	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	802;802	P78509-2;P78509	.;RELN_HUMAN	H	802	ENSP00000392423:D802H;ENSP00000345694:D802H;ENSP00000388446:D802H	ENSP00000345694:D802H	D	-	1	0	RELN	103063169	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.026000	0.76455	2.894000	0.99253	0.591000	0.81541	GAT		0.438	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1		NM_005045		4	69	0	0	0	0.00024832	0	4	69		
CPA1	1357	broad.mit.edu	37	7	130022031	130022031	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr7:130022031G>A	ENST00000011292.3	+	4	614	c.464G>A	c.(463-465)cGt>cAt	p.R155H	CPA1_ENST00000484324.1_Missense_Mutation_p.R67H	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	155					proteolysis (GO:0006508)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					TATGAAGGGCGTCCCATTTAC	0.552																																						uc003vpx.2		NaN																	0				ovary(1)	1						c.(463-465)CGT>CAT		carboxypeptidase A1 precursor							128.0	99.0	109.0					7																	130022031		2203	4300	6503	SO:0001583	missense	1357				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr7:130022031G>A		CCDS5820.1	7q32	2012-02-10			ENSG00000091704	ENSG00000091704	3.4.17.1		2296	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase A"""	114850		CPA			Standard	NM_001868		Approved		uc003vpx.3	P15085	OTTHUMG00000157826	ENST00000011292.3:c.464G>A	7.37:g.130022031G>A	ENSP00000011292:p.Arg155His					CPA1_uc011kpf.1_Missense_Mutation_p.R67H|CPA1_uc003vpw.2_Intron	p.R155H	NM_001868	NP_001859	P15085	CBPA1_HUMAN			4	536	+	Melanoma(18;0.0435)		155					A4D1M1|Q53XU0|Q9BS67|Q9UCF2	Missense_Mutation	SNP	ENST00000011292.3	37	c.464G>A	CCDS5820.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.038724	0.55003	.	.	ENSG00000091704	ENST00000481342;ENST00000011292;ENST00000476062;ENST00000484324	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	5.46	4.56	0.56223	Peptidase M14, carboxypeptidase A (3);	0.046442	0.85682	D	0.000000	T	0.64260	0.2582	M	0.93854	3.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.988	T	0.74054	-0.3788	10	0.87932	D	0	.	12.9305	0.58284	0.0:0.0:0.8379:0.1621	.	67;155	B4DDW9;P15085	.;CBPA1_HUMAN	H	67;155;67;67	ENSP00000420218:R67H;ENSP00000011292:R155H;ENSP00000419408:R67H;ENSP00000419497:R67H	ENSP00000011292:R155H	R	+	2	0	CPA1	129809267	1.000000	0.71417	0.143000	0.22291	0.169000	0.22640	5.448000	0.66612	1.272000	0.44329	0.561000	0.74099	CGT		0.552	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349736.2		NM_001868		9	100	0	0	0	0.000442599	0	9	100		
SLC37A3	84255	broad.mit.edu	37	7	140058547	140058547	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr7:140058547G>C	ENST00000326232.9	-	6	617	c.414C>G	c.(412-414)ttC>ttG	p.F138L	SLC37A3_ENST00000429996.2_Intron|SLC37A3_ENST00000447932.2_Missense_Mutation_p.F138L|SLC37A3_ENST00000461089.1_5'UTR|SLC37A3_ENST00000340308.3_Missense_Mutation_p.F138L	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	138					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					ATTTGTTGTAGAAACGCAGCC	0.507																																					Esophageal Squamous(133;211 1716 4665 11387 37873)	uc003vvo.2		NaN																	0				ovary(3)	3						c.(412-414)TTC>TTG		solute carrier family 37 (glycerol-3-phosphate							162.0	154.0	157.0					7																	140058547		2203	4300	6503	SO:0001583	missense	84255				carbohydrate transport|transmembrane transport	integral to membrane		g.chr7:140058547G>C	AK074823	CCDS5858.1, CCDS5859.1, CCDS75669.1	7q34	2013-07-17	2013-07-17		ENSG00000157800	ENSG00000157800		"""Solute carriers"""	20651	protein-coding gene	gene with protein product							Standard	NM_001287498		Approved	DKFZp761N0624	uc003vvo.3	Q8NCC5	OTTHUMG00000157343	ENST00000326232.9:c.414C>G	7.37:g.140058547G>C	ENSP00000321498:p.Phe138Leu					SLC37A3_uc003vvp.2_Missense_Mutation_p.F138L|SLC37A3_uc010lnh.2_Missense_Mutation_p.F138L|SLC37A3_uc011kqz.1_Intron|SLC37A3_uc011kra.1_Missense_Mutation_p.F138L|SLC37A3_uc011krb.1_Missense_Mutation_p.F110L	p.F138L	NM_207113	NP_996996	Q8NCC5	SPX3_HUMAN			6	580	-	Melanoma(164;0.0142)		138					Q6PIU7|Q86SS4|Q9BQG7	Missense_Mutation	SNP	ENST00000326232.9	37	c.414C>G	CCDS5859.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.69|14.69	2.609344|2.609344	0.46527|0.46527	.|.	.|.	ENSG00000157800|ENSG00000157800	ENST00000340308;ENST00000447932;ENST00000326232;ENST00000539816|ENST00000485861	T;T;T|.	0.16597|.	2.33;2.61;2.59|.	5.58|5.58	3.71|3.71	0.42584|0.42584	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);|.	0.154656|.	0.64402|.	D|.	0.000019|.	T|T	0.50222|0.50222	0.1603|0.1603	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	B;B;B;B;B|.	0.17465|.	0.002;0.007;0.002;0.022;0.02|.	B;B;B;B;B|.	0.28553|.	0.02;0.011;0.017;0.091;0.029|.	T|T	0.41142|0.41142	-0.9525|-0.9525	10|5	0.37606|.	T|.	0.19|.	-16.252|-16.252	8.9069|8.9069	0.35530|0.35530	0.1319:0.1241:0.744:0.0|0.1319:0.1241:0.744:0.0	.|.	110;138;138;138;138|.	B4DKF5;F5H743;Q8NCC5-2;Q8NCC5-3;Q8NCC5|.	.;.;.;.;SPX3_HUMAN|.	L|C	138|63	ENSP00000343358:F138L;ENSP00000397481:F138L;ENSP00000321498:F138L|.	ENSP00000321498:F138L|.	F|S	-|-	3|2	2|0	SLC37A3|SLC37A3	139705016|139705016	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	3.290000|3.290000	0.51755|0.51755	1.308000|1.308000	0.44962|0.44962	0.655000|0.655000	0.94253|0.94253	TTC|TCT		0.507	SLC37A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348492.1		NM_032295		23	228	0	0	0	0.000586117	0	23	228		
KRBA1	84626	broad.mit.edu	37	7	149422508	149422508	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr7:149422508C>T	ENST00000485033.2	+	9	1229	c.1229C>T	c.(1228-1230)tCc>tTc	p.S410F	KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000255992.10_Missense_Mutation_p.S410F|KRBA1_ENST00000319551.8_Missense_Mutation_p.S410F			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	420										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACTTCTTGTTCCCAGAACCCC	0.602																																						uc003wfz.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1228-1230)TCC>TTC		KRAB A domain containing 1							35.0	38.0	37.0					7																	149422508		1966	4183	6149	SO:0001583	missense	84626							g.chr7:149422508C>T	AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"""-"""	22228	protein-coding gene	gene with protein product			"""KRAB A domain containing 1"""				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.1229C>T	7.37:g.149422508C>T	ENSP00000420112:p.Ser410Phe					KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_Missense_Mutation_p.S78F	p.S410F	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		10	1628	+	Melanoma(164;0.165)|Ovarian(565;0.177)		410					A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Missense_Mutation	SNP	ENST00000485033.2	37	c.1229C>T		.	.	.	.	.	.	.	.	.	.	C	5.884	0.347262	0.11126	.	.	ENSG00000133619	ENST00000255992;ENST00000319551;ENST00000485033	T;T;T	0.31247	1.5;1.5;1.5	5.18	1.99	0.26369	.	0.504623	0.16990	N	0.191326	T	0.15739	0.0379	N	0.14661	0.345	0.26397	N	0.976482	B;B	0.17667	0.023;0.008	B;B	0.19391	0.025;0.015	T	0.15925	-1.0420	10	0.45353	T	0.12	-12.0225	4.6972	0.12809	0.0:0.5777:0.2278:0.1944	.	410;410	E7ENE9;A5PL33	.;KRBA1_HUMAN	F	410	ENSP00000255992:S410F;ENSP00000317165:S410F;ENSP00000420112:S410F	ENSP00000255992:S410F	S	+	2	0	KRBA1	149053441	0.470000	0.25854	0.687000	0.30102	0.046000	0.14306	0.320000	0.19540	0.443000	0.26582	0.655000	0.94253	TCC		0.602	KRBA1-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000349841.3		NM_032534		6	26	0	0	0	8.12818e-05	0	6	26		
XKR6	286046	broad.mit.edu	37	8	10755762	10755762	+	Silent	SNP	C	C	T	rs201850605		TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr8:10755762C>T	ENST00000416569.2	-	3	1652	c.1626G>A	c.(1624-1626)acG>acA	p.T542T	XKR6_ENST00000304437.2_Silent_p.T263T	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	542						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		CTCTGGTGGGCGTAACCTGGG	0.637																																						uc003wtk.1		NaN																	0				ovary(1)|skin(1)	2						c.(1624-1626)ACG>ACA		XK, Kell blood group complex subunit-related		C		0,4402		0,0,2201	49.0	38.0	42.0		1626	4.8	1.0	8		42	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	XKR6	NM_173683.3		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		542/642	10755762	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	286046					integral to membrane		g.chr8:10755762C>T	BC024146	CCDS5978.2	8p23.1	2009-05-27	2006-01-12	2005-07-28	ENSG00000171044	ENSG00000171044			27806	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 7"", ""chromosome 8 open reading frame 21"", ""X Kell blood group precursor-related family, member 6"", ""chromosome 8 open reading frame 5"""	C8orf7, C8orf21, C8orf5			Standard	NM_173683		Approved		uc003wtk.1	Q5GH73	OTTHUMG00000129351	ENST00000416569.2:c.1626G>A	8.37:g.10755762C>T							p.T542T	NM_173683	NP_775954	Q5GH73	XKR6_HUMAN		Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)	3	1653	-			542					Q8TBA0	Silent	SNP	ENST00000416569.2	37	c.1626G>A	CCDS5978.2	.	.	.	.	.	.	.	.	.	.	C	3.672	-0.067305	0.07273	0.0	1.16E-4	ENSG00000171044	ENST00000382461	.	.	.	4.78	4.78	0.61160	.	.	.	.	.	T	0.61324	0.2338	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58792	-0.7574	4	.	.	.	-5.2568	10.5583	0.45131	0.0:0.9122:0.0:0.0878	.	.	.	.	H	319	.	.	R	-	2	0	XKR6	10793172	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.246000	0.32803	2.479000	0.83701	0.561000	0.74099	CGC		0.637	XKR6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383958.1		NM_173683		8	38	0	0	0	0.000274275	0	8	38		
DLC1	10395	broad.mit.edu	37	8	12947882	12947882	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr8:12947882G>A	ENST00000276297.4	-	15	4362	c.3953C>T	c.(3952-3954)tCa>tTa	p.S1318L	DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000512044.2_Missense_Mutation_p.S915L|DLC1_ENST00000358919.2_Missense_Mutation_p.S881L|DLC1_ENST00000520226.1_Missense_Mutation_p.S807L	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1318	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GTAGTCAGCTGAGTCATCATT	0.512																																						uc003wwm.2		NaN																	0				ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						c.(3952-3954)TCA>TTA		deleted in liver cancer 1 isoform 1							124.0	118.0	120.0					8																	12947882		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12947882G>A	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.3953C>T	8.37:g.12947882G>A	ENSP00000276297:p.Ser1318Leu					DLC1_uc003wwk.1_Missense_Mutation_p.S881L|DLC1_uc003wwl.1_Missense_Mutation_p.S915L|DLC1_uc011kxx.1_Missense_Mutation_p.S807L	p.S1318L	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN			15	4397	-			1318			START.		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.3953C>T	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	G	2.270	-0.367223	0.05069	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000510318;ENST00000512044;ENST00000520226	T;T;T;T	0.05855	3.62;3.38;3.38;3.38	5.32	3.5	0.40072	Lipid-binding START (1);	0.598474	0.17289	N	0.179704	T	0.02929	0.0087	N	0.04508	-0.205	0.20403	N	0.999906	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.46034	-0.9220	10	0.20519	T	0.43	.	8.4428	0.32824	0.0692:0.0:0.651:0.2797	.	1318;915;881	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	L	1318;881;257;915;807	ENSP00000276297:S1318L;ENSP00000351797:S881L;ENSP00000422595:S915L;ENSP00000428028:S807L	ENSP00000276297:S1318L	S	-	2	0	DLC1	12992253	0.056000	0.20664	0.001000	0.08648	0.003000	0.03518	2.492000	0.45311	0.912000	0.36772	-0.169000	0.13324	TCA		0.512	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2		NM_182643, NM_006094		11	71	0	0	0	0.000673444	0	11	71		
RIMS2	9699	broad.mit.edu	37	8	105160951	105160951	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr8:105160951C>T	ENST00000436393.2	+	23	3504	c.3263C>T	c.(3262-3264)tCt>tTt	p.S1088F	RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000262231.10_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	0					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)			GGCAGCCAGTCTGACACTGCA	0.517										HNSCC(12;0.0054)																												uc003yls.2		NaN																	0				ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(3262-3264)TCT>TTT		regulating synaptic membrane exocytosis 2							92.0	85.0	87.0					8																	105160951		876	1991	2867	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105160951C>T	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.3263C>T	8.37:g.105160951C>T	ENSP00000390665:p.Ser1088Phe	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Intron|RIMS2_uc003ylw.2_Missense_Mutation_p.S1077F|RIMS2_uc003ylq.2_Intron|RIMS2_uc003ylr.2_Intron	p.S1088F	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		23	3504	+			516					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.3263C>T		.	.	.	.	.	.	.	.	.	.	C	24.2	4.505487	0.85282	.	.	ENSG00000176406	ENST00000408894;ENST00000436393	T;T	0.25579	1.79;2.34	5.65	5.65	0.86999	.	.	.	.	.	T	0.55289	0.1911	.	.	.	0.80722	D	1	D	0.67145	0.996	D	0.74023	0.982	T	0.58042	-0.7706	8	0.87932	D	0	.	19.8067	0.96534	0.0:1.0:0.0:0.0	.	1088	D6RA03	.	F	1077;1088	ENSP00000386228:S1077F;ENSP00000390665:S1088F	ENSP00000386228:S1077F	S	+	2	0	RIMS2	105230127	1.000000	0.71417	0.974000	0.42286	0.999000	0.98932	7.789000	0.85783	2.672000	0.90937	0.650000	0.86243	TCT		0.517	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1		NM_001100117		4	16	0	0	0	0.00024832	0	4	16		
SYBU	55638	broad.mit.edu	37	8	110592172	110592172	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr8:110592172G>T	ENST00000422135.1	-	6	1105	c.590C>A	c.(589-591)tCa>tAa	p.S197*	SYBU_ENST00000433638.1_Nonsense_Mutation_p.S197*|SYBU_ENST00000533895.1_Nonsense_Mutation_p.S196*|SYBU_ENST00000528331.1_Nonsense_Mutation_p.S78*|SYBU_ENST00000408889.3_Nonsense_Mutation_p.S78*|SYBU_ENST00000419099.1_Nonsense_Mutation_p.S196*|SYBU_ENST00000532779.1_Nonsense_Mutation_p.S129*|SYBU_ENST00000408908.2_Nonsense_Mutation_p.S197*|SYBU_ENST00000440310.1_Nonsense_Mutation_p.S197*|SYBU_ENST00000528647.1_Nonsense_Mutation_p.S196*|SYBU_ENST00000399066.3_Nonsense_Mutation_p.S194*|SYBU_ENST00000533065.1_Nonsense_Mutation_p.S78*|SYBU_ENST00000529690.1_Nonsense_Mutation_p.S67*|SYBU_ENST00000276646.9_Nonsense_Mutation_p.S197*|SYBU_ENST00000424158.2_Nonsense_Mutation_p.S202*|SYBU_ENST00000527707.1_5'UTR|SYBU_ENST00000533171.1_Nonsense_Mutation_p.S197*|SYBU_ENST00000446070.2_Nonsense_Mutation_p.S196*|SYBU_ENST00000529175.1_5'UTR	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	197	Ser-rich.|Sufficient for interaction with KIF5B.				regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						CCGCGGGGATGATGGGCTGCT	0.517																																						uc003ynj.3		NaN																	0				ovary(1)	1						c.(589-591)TCA>TAA		Golgi-localized syntaphilin-related protein							169.0	158.0	162.0					8																	110592172		2015	4194	6209	SO:0001587	stop_gained	55638					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane		g.chr8:110592172G>T	AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"""syntaphilin-like"""	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.590C>A	8.37:g.110592172G>T	ENSP00000407118:p.Ser197*					SYBU_uc003yni.3_Nonsense_Mutation_p.S194*|SYBU_uc003ynk.3_Nonsense_Mutation_p.S78*|SYBU_uc010mco.2_Nonsense_Mutation_p.S196*|SYBU_uc003ynl.3_Nonsense_Mutation_p.S196*|SYBU_uc010mcp.2_Nonsense_Mutation_p.S197*|SYBU_uc010mcq.2_Nonsense_Mutation_p.S197*|SYBU_uc003yno.3_Nonsense_Mutation_p.S78*|SYBU_uc010mcr.2_Nonsense_Mutation_p.S197*|SYBU_uc003ynm.3_Nonsense_Mutation_p.S196*|SYBU_uc003ynn.3_Nonsense_Mutation_p.S196*|SYBU_uc010mcs.2_Nonsense_Mutation_p.S78*|SYBU_uc010mct.2_Nonsense_Mutation_p.S197*|SYBU_uc010mcu.2_Nonsense_Mutation_p.S196*|SYBU_uc003ynp.3_Nonsense_Mutation_p.S129*|SYBU_uc010mcv.2_Nonsense_Mutation_p.S197*|SYBU_uc003ynh.3_5'UTR|SYBU_uc011lhw.1_Nonsense_Mutation_p.S67*	p.S197*	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN			5	753	-			197			Sufficient for interaction with KIF5B.|Ser-rich.		A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Nonsense_Mutation	SNP	ENST00000422135.1	37	c.590C>A	CCDS47912.1	.	.	.	.	.	.	.	.	.	.	G	38	6.729903	0.97796	.	.	ENSG00000147642	ENST00000533895;ENST00000424158;ENST00000532779;ENST00000399066;ENST00000446070;ENST00000528331;ENST00000276646;ENST00000528647;ENST00000422135;ENST00000419099;ENST00000433638;ENST00000408908;ENST00000440310;ENST00000408889;ENST00000533065;ENST00000529690;ENST00000533171;ENST00000533394;ENST00000528045;ENST00000529190;ENST00000528569;ENST00000532189	.	.	.	5.82	5.82	0.92795	.	0.276343	0.43747	D	0.000536	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-9.7241	19.0811	0.93182	0.0:0.0:1.0:0.0	.	.	.	.	X	196;202;129;194;196;78;197;196;197;196;197;197;197;78;78;67;197;34;78;196;78;78	.	ENSP00000276646:S197X	S	-	2	0	SYBU	110661348	1.000000	0.71417	0.882000	0.34594	0.372000	0.29890	4.354000	0.59417	2.756000	0.94617	0.561000	0.74099	TCA		0.517	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385501.1		NM_017786		18	131	1	0	6.44725e-10	0.000295444	7.6475e-09	18	131		
ENPP2	5168	broad.mit.edu	37	8	120577110	120577110	+	Silent	SNP	G	G	A	rs547371219		TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr8:120577110G>A	ENST00000075322.6	-	23	2275	c.2217C>T	c.(2215-2217)ttC>ttT	p.F739F	ENPP2_ENST00000522167.1_Silent_p.F374F|ENPP2_ENST00000259486.6_Silent_p.F791F|ENPP2_ENST00000427067.2_Silent_p.F760F|ENPP2_ENST00000522826.1_Silent_p.F764F	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	739					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AGTCATAGTCGAAGATTGGTC	0.378													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14716	0.0		0.0	False		,,,				2504	0.0				Melanoma(20;305 879 2501 4818 31020)	uc003yot.1		NaN																	0				ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7						c.(2215-2217)TTC>TTT		autotaxin isoform 2 preproprotein							205.0	167.0	180.0					8																	120577110		2203	4300	6503	SO:0001819	synonymous_variant	5168				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120577110G>A	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.2217C>T	8.37:g.120577110G>A						ENPP2_uc011lic.1_Silent_p.F277F|ENPP2_uc003yor.1_Silent_p.F374F|ENPP2_uc003yos.1_Silent_p.F791F|ENPP2_uc010mdd.1_Silent_p.F764F	p.F739F	NM_001040092	NP_001035181	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		23	2303	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		739					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Silent	SNP	ENST00000075322.6	37	c.2217C>T	CCDS34936.1																																																																																				0.378	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1				6	41	0	0	0	3.59834e-05	0	6	41		
ATAD2	29028	broad.mit.edu	37	8	124382178	124382178	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr8:124382178C>G	ENST00000287394.5	-	7	921	c.814G>C	c.(814-816)Gat>Cat	p.D272H	ATAD2_ENST00000534257.1_5'Flank|ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	272	Asp-rich.				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)			tcatcatcatcatcatcgtca	0.363																																						uc003yqh.3		NaN																	0				ovary(2)	2						c.(814-816)GAT>CAT		ATPase family, AAA domain containing 2							250.0	191.0	211.0					8																	124382178		2201	4300	6501	SO:0001583	missense	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124382178C>G	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.814G>C	8.37:g.124382178C>G	ENSP00000287394:p.Asp272His					ATAD2_uc011lii.1_Missense_Mutation_p.D63H|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.D272H	p.D272H	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		7	922	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		272			Asp-rich.		Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	c.814G>C	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	C	2.202	-0.382757	0.04966	.	.	ENSG00000156802	ENST00000287394	T	0.54279	0.58	0.755	0.755	0.18415	.	1.442870	0.03521	N	0.221006	T	0.46698	0.1406	L	0.29908	0.895	0.80722	D	1	P;B	0.44946	0.846;0.168	P;B	0.44946	0.465;0.043	T	0.48055	-0.9068	10	0.51188	T	0.08	.	7.5002	0.27513	0.0:1.0:0.0:0.0	.	102;272	Q6PL18-2;Q6PL18	.;ATAD2_HUMAN	H	272	ENSP00000287394:D272H	ENSP00000287394:D272H	D	-	1	0	ATAD2	124451359	1.000000	0.71417	0.054000	0.19295	0.034000	0.12701	2.695000	0.47043	0.731000	0.32448	0.549000	0.68633	GAT		0.363	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2		NM_014109		5	23	0	0	0	0.000602214	0	5	23		
CPSF1	29894	broad.mit.edu	37	8	145622615	145622615	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr8:145622615G>C	ENST00000349769.3	-	23	2493	c.2399C>G	c.(2398-2400)cCc>cGc	p.P800R	CPSF1_ENST00000531727.1_5'Flank|MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	800					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CCGCCAGTCGGGAAGCTGGTA	0.647																																					NSCLC(133;1088 1848 27708 34777 35269)	uc003zcj.2		NaN																	0				skin(1)	1						c.(2398-2400)CCC>CGC		cleavage and polyadenylation specific factor 1,							10.0	12.0	11.0					8																	145622615		2191	4283	6474	SO:0001583	missense	29894				mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	g.chr8:145622615G>C	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.2399C>G	8.37:g.145622615G>C	ENSP00000339353:p.Pro800Arg						p.P800R	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		23	2474	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		800					Q96AF0	Missense_Mutation	SNP	ENST00000349769.3	37	c.2399C>G	CCDS34966.1	.	.	.	.	.	.	.	.	.	.	g	16.55	3.155200	0.57259	.	.	ENSG00000071894	ENST00000349769	T	0.65916	-0.18	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.77432	0.4129	M	0.69358	2.11	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.80266	-0.1454	10	0.87932	D	0	-17.0264	15.6568	0.77144	0.0:0.0:1.0:0.0	.	800	Q10570	CPSF1_HUMAN	R	800	ENSP00000339353:P800R	ENSP00000339353:P800R	P	-	2	0	CPSF1	145593423	1.000000	0.71417	0.895000	0.35142	0.203000	0.24098	8.770000	0.91746	2.302000	0.77476	0.486000	0.48141	CCC		0.647	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2		NM_013291		2	3	0	0	0	6.4e-05	0	2	3		
TOR2A	27433	broad.mit.edu	37	9	130496823	130496823	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr9:130496823G>A	ENST00000373284.5	-	2	218	c.172C>T	c.(172-174)Cag>Tag	p.Q58*	TOR2A_ENST00000472723.1_5'UTR|TOR2A_ENST00000336067.6_Nonsense_Mutation_p.Q58*|TOR2A_ENST00000373281.5_Nonsense_Mutation_p.Q58*|TOR2A_ENST00000458505.3_Intron	NM_001085347.2	NP_001078816	Q5JU69	TOR2A_HUMAN	torsin family 2, member A	58					chaperone mediated protein folding requiring cofactor (GO:0051085)|protein homooligomerization (GO:0051260)	endoplasmic reticulum lumen (GO:0005788)	ATP binding (GO:0005524)			NS(1)|endometrium(2)	3						GCCAGGTGCTGAGCCAGGTCA	0.632											OREG0019509	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004brs.3		NaN																	0					0						c.(172-174)CAG>TAG		torsin family 2, member A isoform a							17.0	18.0	18.0					9																	130496823		2201	4298	6499	SO:0001587	stop_gained	27433				chaperone mediated protein folding requiring cofactor	endoplasmic reticulum|extracellular region	ATP binding|nucleoside-triphosphatase activity	g.chr9:130496823G>A	AA873275	CCDS6876.1, CCDS43879.1, CCDS48024.1	9q34.11	2010-08-20			ENSG00000160404	ENSG00000160404			11996	protein-coding gene	gene with protein product		608052				10644435	Standard	NM_001085347		Approved	FLJ14771, TORP1	uc004brs.4	Q5JU69	OTTHUMG00000020706	ENST00000373284.5:c.172C>T	9.37:g.130496823G>A	ENSP00000362381:p.Gln58*		OREG0019509	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1580	TOR2A_uc004brt.3_Nonsense_Mutation_p.Q58*|TOR2A_uc004brw.3_Nonsense_Mutation_p.Q58*|TOR2A_uc011maj.1_Intron|TOR2A_uc004bru.3_Intron|TOR2A_uc004brv.3_Intron|TOR2A_uc004brx.1_5'UTR	p.Q58*	NM_001085347	NP_001078816	Q5JU69	TOR2A_HUMAN			2	227	-			58					A4FU12|A4FU13|Q3ZCN9|Q3ZCP0|Q5JU68|Q66K87|Q6UXW6|Q8NAN5|Q96SL7	Nonsense_Mutation	SNP	ENST00000373284.5	37	c.172C>T	CCDS43879.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.604207	0.46423	.	.	ENSG00000160404	ENST00000336067;ENST00000373284;ENST00000373281	.	.	.	5.21	5.21	0.72293	.	0.344359	0.30401	N	0.009704	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-17.7419	13.9226	0.63942	0.0:0.1535:0.8465:0.0	.	.	.	.	X	58	.	ENSP00000338317:Q58X	Q	-	1	0	TOR2A	129536644	0.997000	0.39634	1.000000	0.80357	0.015000	0.08874	2.351000	0.44071	2.416000	0.81992	0.561000	0.74099	CAG		0.632	TOR2A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054205.1		NM_130459		14	26	0	0	0	0.000308642	0	14	26		
ASS1	445	broad.mit.edu	37	9	133364826	133364826	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr9:133364826G>C	ENST00000372394.1	+	13	1426	c.945G>C	c.(943-945)ttG>ttC	p.L315F	ASS1_ENST00000372393.3_Missense_Mutation_p.L315F|ASS1_ENST00000352480.5_Missense_Mutation_p.L315F			P00966	ASSY_HUMAN	argininosuccinate synthase 1	315					acute-phase response (GO:0006953)|aging (GO:0007568)|arginine biosynthetic process (GO:0006526)|argininosuccinate metabolic process (GO:0000053)|aspartate metabolic process (GO:0006531)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to amine stimulus (GO:0071418)|cellular response to amino acid stimulus (GO:0071230)|cellular response to ammonium ion (GO:0071242)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to interferon-gamma (GO:0071346)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to oleic acid (GO:0071400)|cellular response to tumor necrosis factor (GO:0071356)|citrulline metabolic process (GO:0000052)|diaphragm development (GO:0060539)|kidney development (GO:0001822)|liver development (GO:0001889)|midgut development (GO:0007494)|negative regulation of leukocyte cell-cell adhesion (GO:1903038)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to mycotoxin (GO:0010046)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|perikaryon (GO:0043204)	amino acid binding (GO:0016597)|argininosuccinate synthase activity (GO:0004055)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|toxic substance binding (GO:0015643)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	GCCTGGGCTTGAAATTTGCTG	0.542																																						uc004bzm.2		NaN																	0				ovary(1)	1						c.(943-945)TTG>TTC		argininosuccinate synthetase 1	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)						130.0	146.0	140.0					9																	133364826		2203	4300	6503	SO:0001583	missense	445				arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding	g.chr9:133364826G>C	X01630	CCDS6933.1	9q34.1	2012-10-02	2010-04-20	2006-08-24	ENSG00000130707	ENSG00000130707	6.3.4.5		758	protein-coding gene	gene with protein product		603470	"""argininosuccinate synthetase"""	ASS		3513483, 852520	Standard	NM_054012		Approved	CTLN1	uc004bzm.3	P00966	OTTHUMG00000020806	ENST00000372394.1:c.945G>C	9.37:g.133364826G>C	ENSP00000361471:p.Leu315Phe					ASS1_uc004bzn.2_Missense_Mutation_p.L315F|ASS1_uc010mza.2_Missense_Mutation_p.L391F|ASS1_uc004bzo.2_Missense_Mutation_p.L296F|ASS1_uc010mzb.2_Missense_Mutation_p.L353F|ASS1_uc004bzp.2_Missense_Mutation_p.L315F|ASS1_uc010mzc.2_Missense_Mutation_p.L315F	p.L315F	NM_000050	NP_000041	P00966	ASSY_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000514)	13	1301	+			315					Q6LDL2|Q86UZ0|Q96GT4	Missense_Mutation	SNP	ENST00000372394.1	37	c.945G>C	CCDS6933.1	.	.	.	.	.	.	.	.	.	.	G	6.426	0.446679	0.12223	.	.	ENSG00000130707	ENST00000334909;ENST00000352480;ENST00000372394;ENST00000372393;ENST00000372386	D;D;D;D	0.98633	-5.04;-5.04;-5.04;-5.04	4.5	2.59	0.31030	Argininosuccinate synthetase, catalytic/multimerisation domain body (1);	0.177851	0.37906	U	0.001882	D	0.96281	0.8787	L	0.58925	1.835	0.39003	D	0.959399	B;B;B;B;B	0.32324	0.006;0.364;0.364;0.006;0.006	B;B;B;B;B	0.28849	0.009;0.095;0.095;0.009;0.009	D	0.93367	0.6732	10	0.56958	D	0.05	.	5.7334	0.18053	0.1771:0.1678:0.6551:0.0	.	315;198;198;315;315	A8KAP9;B4E395;E9PDT0;Q5T6L4;P00966	.;.;.;.;ASSY_HUMAN	F	315;315;315;315;72	ENSP00000253004:L315F;ENSP00000361471:L315F;ENSP00000361469:L315F;ENSP00000361461:L72F	ENSP00000361470:L315F	L	+	3	2	ASS1	132354647	1.000000	0.71417	0.999000	0.59377	0.891000	0.51852	3.022000	0.49659	0.420000	0.25954	0.462000	0.41574	TTG		0.542	ASS1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054652.1		NM_000050		21	221	0	0	0	0.000375601	0	21	221		
FRMPD4	9758	broad.mit.edu	37	X	12736510	12736510	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chrX:12736510C>A	ENST00000380682.1	+	16	4071	c.3565C>A	c.(3565-3567)Cgc>Agc	p.R1189S		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1189					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GAGTGTGGCCCGCCTTTGTGA	0.552																																						uc004cuz.1		NaN																	0				central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13						c.(3565-3567)CGC>AGC		FERM and PDZ domain containing 4							129.0	117.0	121.0					X																	12736510		2203	4300	6503	SO:0001583	missense	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12736510C>A	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.3565C>A	X.37:g.12736510C>A	ENSP00000370057:p.Arg1189Ser					FRMPD4_uc011mij.1_Missense_Mutation_p.R1181S	p.R1189S	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN			16	4071	+			1189					A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	c.3565C>A	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.330346	0.24167	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.11063	2.81	5.5	5.5	0.81552	.	0.328804	0.32002	N	0.006724	T	0.12220	0.0297	M	0.67953	2.075	0.29863	N	0.827516	P;P	0.42078	0.77;0.77	B;B	0.33196	0.159;0.159	T	0.18999	-1.0319	10	0.87932	D	0	-1.4847	11.2102	0.48793	0.2453:0.7547:0.0:0.0	.	1181;1189	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	S	1189;1180;1178	ENSP00000370057:R1189S	ENSP00000304583:R1178S	R	+	1	0	FRMPD4	12646431	1.000000	0.71417	0.924000	0.36721	0.305000	0.27757	2.698000	0.47068	2.295000	0.77249	0.600000	0.82982	CGC		0.552	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1		XM_045712		24	131	1	0	6.36457e-07	0.000586117	7.50224e-06	24	131		
FAM47C	442444	broad.mit.edu	37	X	37027156	37027156	+	Missense_Mutation	SNP	C	C	G	rs368685662		TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chrX:37027156C>G	ENST00000358047.3	+	1	725	c.673C>G	c.(673-675)Cag>Gag	p.Q225E		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	225										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCTCCGCCCACAGCCTCCCAA	0.647																																						uc004ddl.1		NaN																	0				ovary(3)	3						c.(673-675)CAG>GAG		hypothetical protein LOC442444							41.0	41.0	41.0					X																	37027156		2202	4298	6500	SO:0001583	missense	442444							g.chrX:37027156C>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.673C>G	X.37:g.37027156C>G	ENSP00000367913:p.Gln225Glu						p.Q225E	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	687	+			225					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.673C>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.683783	0.00101	.	.	ENSG00000198173	ENST00000358047	T	0.12672	2.66	0.96	0.96	0.19631	.	.	.	.	.	T	0.01870	0.0059	N	0.00114	-2.085	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37337	-0.9710	9	0.02654	T	1	.	2.8694	0.05611	0.2407:0.2933:0.466:0.0	.	225	Q5HY64	FA47C_HUMAN	E	225	ENSP00000367913:Q225E	ENSP00000367913:Q225E	Q	+	1	0	FAM47C	36937077	0.000000	0.05858	0.016000	0.15963	0.016000	0.09150	-3.060000	0.00624	-1.049000	0.03234	-1.043000	0.02367	CAG		0.647	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1		NM_001013736		5	79	0	0	0	0.000602214	0	5	79		
KDM6A	7403	broad.mit.edu	37	X	44949018	44949018	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chrX:44949018G>A	ENST00000377967.4	+	25	3620	c.3579G>A	c.(3577-3579)tgG>tgA	p.W1193*	KDM6A_ENST00000382899.4_Nonsense_Mutation_p.W1200*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.W1148*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.W1114*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1193	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TGGGTTCTTGGTGGCCCAATC	0.353			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	uc004dge.3		NaN		Rec	yes		X	Xp11.2	7403	D|N|F|S	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			renal|oesophageal SCC|MM		6	Whole gene deletion(6)		oesophagus(2)|breast(2)|pancreas(2)	kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						c.(3577-3579)TGG>TGA		ubiquitously transcribed tetratricopeptide							109.0	93.0	98.0					X																	44949018		2203	4300	6503	SO:0001587	stop_gained	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44949018G>A	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.3579G>A	X.37:g.44949018G>A	ENSP00000367203:p.Trp1193*					KDM6A_uc011mkz.1_Nonsense_Mutation_p.W1245*|KDM6A_uc011mla.1_Nonsense_Mutation_p.W1148*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.W1200*|KDM6A_uc011mlc.1_Nonsense_Mutation_p.W897*|KDM6A_uc011mld.1_Nonsense_Mutation_p.W832*	p.W1193*	NM_021140	NP_066963	O15550	KDM6A_HUMAN			25	3954	+			1193			JmjC.		Q52LL9|Q5JVQ7	Nonsense_Mutation	SNP	ENST00000377967.4	37	c.3579G>A	CCDS14265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.562561|7.562561	0.98361|0.98361	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000414389;ENST00000433797|ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216	.|.	.|.	.|.	5.16|5.16	5.16|5.16	0.70880|0.70880	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.45538|.	0.1347|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.42258|.	-0.9462|.	3|.	.|0.02654	.|T	.|1	-5.6136|-5.6136	17.8727|17.8727	0.88815|0.88815	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	M|X	791;836|890;1193;1148;1200;1114	.|.	.|ENSP00000334340:W890X	V|W	+|+	1|3	0|0	KDM6A|KDM6A	44833962|44833962	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.358000|9.358000	0.97109|0.97109	2.153000|2.153000	0.67306|0.67306	0.468000|0.468000	0.43344|0.43344	GTG|TGG		0.353	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1		NM_021140		6	16	0	0	0	0.000157383	0	6	16		
IGSF1	3547	broad.mit.edu	37	X	130411013	130411013	+	Silent	SNP	G	G	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chrX:130411013G>T	ENST00000361420.3	-	14	2587	c.2508C>A	c.(2506-2508)atC>atA	p.I836I	IGSF1_ENST00000370903.3_Silent_p.I841I|IGSF1_ENST00000370910.1_Silent_p.I827I|IGSF1_ENST00000370904.1_Silent_p.I827I|IGSF1_ENST00000467244.1_5'UTR			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	836	Ig-like C2-type 8.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CCACCGAAATGATTAGAAAGT	0.498																																						uc004ewd.2		NaN																	0				ovary(3)|lung(1)|central_nervous_system(1)	5						c.(2506-2508)ATC>ATA		immunoglobulin superfamily, member 1 isoform 1							189.0	195.0	193.0					X																	130411013		2203	4300	6503	SO:0001819	synonymous_variant	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130411013G>T	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.2508C>A	X.37:g.130411013G>T						IGSF1_uc004ewe.3_Silent_p.I830I|IGSF1_uc004ewf.2_Silent_p.I816I	p.I836I	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN			14	2746	-			836			Extracellular (Potential).|Ig-like C2-type 8.		B5MEG2|H9KV64|O15070|Q9NTC8	Silent	SNP	ENST00000361420.3	37	c.2508C>A	CCDS14629.1																																																																																				0.498	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1				52	446	1	0	8.28887e-21	0.000781405	1.0021e-19	52	446		
FAM58A	92002	broad.mit.edu	37	X	152858023	152858023	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chrX:152858023G>C	ENST00000406277.2	-	6	694	c.592C>G	c.(592-594)Ctg>Gtg	p.L198V	FAM58A_ENST00000370175.4_5'UTR	NM_001130997.1|NM_152274.3	NP_001124469.1|NP_689487.2	Q8N1B3	FA58A_HUMAN	family with sequence similarity 58, member A	200					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)					endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TAGACCTGCAGGGCCAGGTAG	0.692																																						uc010nug.2		NaN																	0					0						c.(412-414)CTG>GTG		RecName: Full=Cyclin-related protein FAM58B;							29.0	27.0	28.0					X																	152858023		2203	4299	6502	SO:0001583	missense	92002				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding	g.chrX:152858023G>C	BC032121	CCDS76054.1	Xq28	2014-08-12	2012-11-30	2012-11-30	ENSG00000147382	ENSG00000262919			28434	protein-coding gene	gene with protein product	"""cyclin M"""	300708				18297069, 24218572	Standard	NM_152274		Approved	MGC29729, FLJ21610	uc011myr.2	Q8N1B3	OTTHUMG00000024206	ENST00000406277.2:c.592C>G	X.37:g.152858023G>C	ENSP00000384396:p.Leu198Val						p.L138V			Q8N1B3	FA58A_HUMAN			3	515	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		200					Q2I380|Q330J9|Q96IU5|Q9BUU1	Missense_Mutation	SNP	ENST00000406277.2	37	c.412C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.16|16.16	3.045502|3.045502	0.55110|0.55110	.|.	.|.	ENSG00000147382|ENSG00000147382	ENST00000370175;ENST00000406277;ENST00000370171;ENST00000276345;ENST00000370173|ENST00000440428	T|.	0.45668|.	0.89|.	4.25|4.25	4.25|4.25	0.50352|0.50352	Cyclin-like (2);|.	0.153018|.	0.43416|.	D|.	0.000569|.	T|T	0.60392|0.60392	0.2265|0.2265	L|L	0.61036|0.61036	1.89|1.89	0.50632|0.50632	D|D	0.999884|0.999884	P;P;P|.	0.50369|.	0.918;0.934;0.888|.	P;B;B|.	0.47102|.	0.537;0.417;0.259|.	T|T	0.59789|0.59789	-0.7388|-0.7388	10|5	0.23891|.	T|.	0.37|.	-7.4532|-7.4532	6.4449|6.4449	0.21871|0.21871	0.2251:0.0:0.7749:0.0|0.2251:0.0:0.7749:0.0	.|.	200;200;198|.	Q8N1B3-2;Q8N1B3;B5MD73|.	.;FA58A_HUMAN;.|.	V|R	166;198;166;198;198|92	ENSP00000384396:L198V|.	ENSP00000276345:L198V|.	L|P	-|-	1|2	2|0	FAM58A|FAM58A	152511217|152511217	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.697000|0.697000	0.40408|0.40408	2.680000|2.680000	0.46918|0.46918	1.849000|1.849000	0.53698|0.53698	0.429000|0.429000	0.28392|0.28392	CTG|CCT		0.692	FAM58A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_152274		7	31	0	0	0	8.12818e-05	0	7	31		
EMD	2010	broad.mit.edu	37	X	153609241	153609241	+	Splice_Site	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chrX:153609241G>A	ENST00000369842.4	+	6	737		c.e6-1		EMD_ENST00000369835.3_Splice_Site|EMD_ENST00000492448.1_Splice_Site	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN	emerin						cellular response to growth factor stimulus (GO:0071363)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fibroblast proliferation (GO:0048147)|positive regulation of protein export from nucleus (GO:0046827)|regulation of canonical Wnt signaling pathway (GO:0060828)|skeletal muscle cell differentiation (GO:0035914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	actin binding (GO:0003779)|beta-tubulin binding (GO:0048487)			lung(5)	5	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTTTGCCTCAGGGAACGCCCC	0.622																																						uc004fkl.2		NaN																	0					0						c.e6-1		emerin							77.0	67.0	71.0					X																	153609241		2203	4300	6503	SO:0001630	splice_region_variant	2010				cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding	g.chrX:153609241G>A	X82434	CCDS14745.1	Xq27.3-q28	2014-09-17	2008-07-29		ENSG00000102119	ENSG00000102119			3331	protein-coding gene	gene with protein product	"""LEM domain containing 5"""	300384	"""Emery-Dreifuss muscular dystrophy"""				Standard	NM_000117		Approved	STA, LEMD5	uc004fkl.3	P50402	OTTHUMG00000033186	ENST00000369842.4:c.450-1G>A	X.37:g.153609241G>A							p.R150_splice	NM_000117	NP_000108	P50402	EMD_HUMAN			6	698	+	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)							Q6FI02	Splice_Site	SNP	ENST00000369842.4	37	c.450_splice	CCDS14745.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.966297	0.34659	.	.	ENSG00000102119	ENST00000369842;ENST00000369835	.	.	.	5.06	4.17	0.49024	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.997	0.41905	0.0:0.0:0.798:0.202	.	.	.	.	.	-1	.	.	.	+	.	.	EMD	153262435	1.000000	0.71417	0.965000	0.40720	0.410000	0.31052	4.669000	0.61575	0.989000	0.38761	0.436000	0.28706	.		0.622	EMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080921.1			Intron	13	86	0	0	0	0.000219431	0	13	86		
SMARCE1	6605	broad.mit.edu	37	17	38792242	38792247	+	In_Frame_Del	DEL	TGTCTC	TGTCTC	-			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr17:38792242_38792247delTGTCTC	ENST00000348513.6	-	7	1257_1262	c.477_482delGAGACA	c.(475-483)cagagacaa>caa	p.159_161QRQ>Q	SMARCE1_ENST00000400122.3_In_Frame_Del_p.89_91QRQ>Q|KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000580419.1_In_Frame_Del_p.124_126QRQ>Q|SMARCE1_ENST00000377808.4_In_Frame_Del_p.124_126QRQ>Q|SMARCE1_ENST00000544009.1_In_Frame_Del_p.89_91QRQ>Q|SMARCE1_ENST00000578044.1_In_Frame_Del_p.89_91QRQ>Q|SMARCE1_ENST00000431889.2_In_Frame_Del_p.141_143QRQ>Q	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	159					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|metabolic process (GO:0008152)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|N-acetyltransferase activity (GO:0008080)|protein N-terminus binding (GO:0047485)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)			large_intestine(1)	1		Breast(137;0.000812)				CATGCGAGATTGTCTCTGTCGACTTT	0.422																																						uc002hux.2		NaN																	0					0						c.(475-483)CAGAGACAA>CAA		SWI/SNF-related matrix-associated																																				SO:0001651	inframe_deletion	6605				chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity	g.chr17:38792242_38792247delTGTCTC	AF035262	CCDS11370.1	17q21.2	2006-09-20			ENSG00000073584	ENSG00000073584			11109	protein-coding gene	gene with protein product		603111				9435219	Standard	NM_003079		Approved	BAF57	uc002hux.2	Q969G3	OTTHUMG00000133367	ENST00000348513.6:c.477_482delGAGACA	17.37:g.38792242_38792247delTGTCTC	ENSP00000323967:p.Gln159_Arg160del					SMARCE1_uc010wff.1_In_Frame_Del_p.124_126QRQ>Q|SMARCE1_uc010wfg.1_In_Frame_Del_p.89_91QRQ>Q|SMARCE1_uc002huy.2_In_Frame_Del_p.124_126QRQ>Q|SMARCE1_uc010wfh.1_In_Frame_Del_p.89_91QRQ>Q|SMARCE1_uc010wfi.1_In_Frame_Del_p.141_143QRQ>Q|SMARCE1_uc002huz.1_In_Frame_Del_p.124_126QRQ>Q|SMARCE1_uc010wfj.1_In_Frame_Del_p.141_143QRQ>Q	p.159_161QRQ>Q	NM_003079	NP_003070	Q969G3	SMCE1_HUMAN			7	601_606	-		Breast(137;0.000812)	159_161					B3KMC1|B4DFR4|C0IMW4|C0IMW5|C0IMW7|H7C3F6|O43539	In_Frame_Del	DEL	ENST00000348513.6	37	c.477_482delGAGACA	CCDS11370.1																																																																																				0.422	SMARCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257203.1		NM_003079		16	99	NaN	NaN	NaN	NaN	NaN	16	99	---	---
ZNF180	7733	broad.mit.edu	37	19	44982133	44982134	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr19:44982133_44982134delCT	ENST00000221327.4	-	5	845_846	c.564_565delAG	c.(562-567)agagtcfs	p.RV188fs	AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000391956.4_Frame_Shift_Del_p.RV163fs|ZNF180_ENST00000585514.1_5'Flank|ZNF180_ENST00000592529.1_Frame_Shift_Del_p.RV161fs|ZNF180_ENST00000586637.1_3'UTR	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	188					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V189I(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				CTTTTGCAGACTCTCTCATGAA	0.391																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)	uc002ozf.3		NaN																	1	Substitution - Missense(1)		large_intestine(1)	ovary(2)	2						c.(562-567)AGAGTCfs		zinc finger protein 180																																				SO:0001589	frameshift_variant	7733				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44982133_44982134delCT	AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"""Zinc fingers, C2H2-type"", ""-"""	12970	protein-coding gene	gene with protein product		606740	"""zinc finger protein 180 (HHZ168)"""				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.564_565delAG	19.37:g.44982137_44982138delCT	ENSP00000221327:p.Arg188fs					ZNF180_uc002ozh.3_5'UTR|ZNF180_uc002ozi.3_Frame_Shift_Del_p.R161fs|ZNF180_uc002ozg.3_Frame_Shift_Del_p.R187fs|ZNF180_uc010ejm.2_Frame_Shift_Del_p.R163fs	p.R188fs	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN			5	846_847	-		Prostate(69;0.0435)	188_189					B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Frame_Shift_Del	DEL	ENST00000221327.4	37	c.564_565delAG	CCDS12639.1																																																																																				0.391	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1		NM_013256		7	83	NaN	NaN	NaN	NaN	NaN	7	83	---	---
