#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
CDK11A	728642	broad.mit.edu	37	1	1634992	1634992	+	Silent	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:1634992G>A	ENST00000378633.1	-	18	2071	c.1992C>T	c.(1990-1992)ttC>ttT	p.F664F	CDK11A_ENST00000495016.1_5'Flank|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000357760.2_Silent_p.F660F|CDK11A_ENST00000378638.2_Silent_p.F627F|CDK11A_ENST00000404249.3_Silent_p.F661F|CDK11A_ENST00000356200.3_Silent_p.F627F|CDK11A_ENST00000358779.5_Silent_p.F651F			Q9UQ88	CD11A_HUMAN	cyclin-dependent kinase 11A	664					apoptotic process (GO:0006915)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						GGTGCTCGCTGAAGGTCATCT	0.587																																					Pancreas(186;965 2119 30274 40311 50569)	uc009vks.2		NaN																	0				stomach(1)	1						c.(1981-1983)TTC>TTT		cell division cycle 2-like 2 isoform 1							20.0	45.0	38.0					1																	1634992		1508	4071	5579	SO:0001819	synonymous_variant	728642				apoptosis|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr1:1634992G>A	AF067522	CCDS44042.1, CCDS44043.1	1p36.33	2011-11-08	2009-12-16	2009-12-16	ENSG00000008128	ENSG00000008128		"""Cyclin-dependent kinases"""	1730	protein-coding gene	gene with protein product		116951	"""cell division cycle 2-like 2"", ""cell division cycle 2-like 2 (PITSLRE proteins)"""	CDC2L3, CDC2L2		7920654, 9750192, 19884882	Standard	NM_033529		Approved	PITSLRE, CDK11-p110, CDK11-p58, CDK11-p46, p58GTA		Q9UQ88	OTTHUMG00000000703	ENST00000378633.1:c.1992C>T	1.37:g.1634992G>A						CDK11B_uc001ags.1_Intron|CDK11B_uc001agt.1_Intron|CDK11B_uc001aha.1_Intron|CDK11B_uc001agw.1_Intron|CDK11B_uc001agv.1_Intron|CDK11B_uc001agy.1_Intron|CDK11B_uc001agx.1_Intron|CDK11B_uc001agz.1_Intron|SLC35E2B_uc001ahh.3_Intron|SLC35E2_uc009vkm.1_Intron|CDK11A_uc001ahj.3_Silent_p.F168F|CDK11A_uc009vkp.2_Silent_p.F278F|CDK11A_uc009vkq.2_RNA|CDK11A_uc009vkr.2_Silent_p.F651F	p.F661F	NM_024011	NP_076916	Q9UQ88	CD11A_HUMAN			18	2091	-			664					O95227|O95228|O96012|Q12821|Q12853|Q12854|Q2TAJ0|Q5QPR0|Q5QPR1|Q5QPR2|Q9UBC4|Q9UBI3|Q9UEI1|Q9UEI2|Q9UP53|Q9UP54|Q9UP55|Q9UP56|Q9UQ86|Q9UQ87|Q9UQ89	Silent	SNP	ENST00000378633.1	37	c.1983C>T																																																																																					0.587	CDK11A-005	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000001735.1		NM_024011		4	15	0	0	0	0.000602	0	4	15		
GNB1	2782	broad.mit.edu	37	1	1756890	1756890	+	Start_Codon_SNP	SNP	C	C	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:1756890C>A	ENST00000378609.4	-	3	334	c.3G>T	c.(1-3)atG>atT	p.M1I	GNB1_ENST00000472614.2_5'UTR	NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	1					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-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;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		CAAGCTCACTCATCTTCCGAT	0.398																																						uc001aif.2		NaN																	0					0						c.(1-3)ATG>ATT		guanine nucleotide-binding protein, beta-1							308.0	297.0	301.0					1																	1756890		2203	4300	6503	SO:0001582	initiator_codon_variant	2782				cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity	g.chr1:1756890C>A	BC004186	CCDS34.1, CCDS72685.1	1p36.33	2013-01-10			ENSG00000078369	ENSG00000078369		"""WD repeat domain containing"""	4396	protein-coding gene	gene with protein product		139380					Standard	NM_002074		Approved		uc001aif.3	P62873	OTTHUMG00000000940	ENST00000378609.4:c.3G>T	1.37:g.1756890C>A	ENSP00000367872:p.Met1Ile					GNB1_uc009vky.2_5'UTR	p.M1I	NM_002074	NP_002065	P62873	GBB1_HUMAN		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)	3	335	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-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)	1					B1AJZ7|P04697|P04901|Q1RMY8	Missense_Mutation	SNP	ENST00000378609.4	37	c.3G>T	CCDS34.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.020325	0.54576	.	.	ENSG00000078369	ENST00000378609;ENST00000378606;ENST00000434686;ENST00000439272;ENST00000437146	T;T;T;T	0.69561	0.31;0.02;-0.41;0.62	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.70150	0.3191	.	.	.	0.80722	D	1	P	0.51147	0.942	P	0.46389	0.515	T	0.74965	-0.3484	9	0.72032	D	0.01	-14.9495	16.7697	0.85534	0.0:1.0:0.0:0.0	.	1	P62873	GBB1_HUMAN	I	1	ENSP00000367872:M1I;ENSP00000392765:M1I;ENSP00000399741:M1I;ENSP00000416651:M1I	ENSP00000367869:M1I	M	-	3	0	GNB1	1746750	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.870000	0.75526	2.629000	0.89072	0.650000	0.86243	ATG		0.398	GNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002762.3		NM_002074	Missense_Mutation	129	128	1	0	2.4537e-52	0.01441	2.86817e-52	129	128		
SLC45A1	50651	broad.mit.edu	37	1	8403885	8403885	+	Missense_Mutation	SNP	G	G	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:8403885G>T	ENST00000471889.1	+	9	2444	c.2059G>T	c.(2059-2061)Gct>Tct	p.A687S	SLC45A1_ENST00000289877.8_Missense_Mutation_p.A687S|SLC45A1_ENST00000377479.2_Missense_Mutation_p.A721S			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	687					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GTACTTCCTGGCTCAGATTCT	0.642																																						uc001apb.2		NaN																	0				central_nervous_system(2)|pancreas(1)|skin(1)	4						c.(2059-2061)GCT>TCT		DNB5							98.0	79.0	85.0					1																	8403885		2203	4300	6503	SO:0001583	missense	50651				carbohydrate transport	integral to membrane	symporter activity	g.chr1:8403885G>T	AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"""Solute carriers"""	17939	protein-coding gene	gene with protein product	"""H+/sugar symporter"""	605763	"""deleted in neuroblastoma 5"""	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.2059G>T	1.37:g.8403885G>T	ENSP00000418096:p.Ala687Ser					SLC45A1_uc001apc.2_Missense_Mutation_p.A385S	p.A687S	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	8	2059	+	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	687			Helical; (Potential).		Q5VY46|Q5VY49	Missense_Mutation	SNP	ENST00000471889.1	37	c.2059G>T	CCDS30577.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.197928	0.79015	.	.	ENSG00000162426	ENST00000471889;ENST00000377479;ENST00000289877	D;D;D	0.81579	-1.51;-1.51;-1.51	5.04	5.04	0.67666	Major facilitator superfamily domain, general substrate transporter (1);	0.100219	0.64402	D	0.000002	D	0.86041	0.5838	L	0.49640	1.575	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.82610	-0.0372	10	0.19147	T	0.46	-33.422	17.364	0.87359	0.0:0.0:1.0:0.0	.	687	Q9Y2W3	S45A1_HUMAN	S	687;721;687	ENSP00000418096:A687S;ENSP00000366699:A721S;ENSP00000289877:A687S	ENSP00000289877:A687S	A	+	1	0	SLC45A1	8326472	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.164000	0.94755	2.327000	0.79052	0.555000	0.69702	GCT		0.642	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5				17	57	1	0	3.51602e-12	0.008871	3.81361e-12	17	57		
UBR4	23352	broad.mit.edu	37	1	19487579	19487579	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:19487579C>T	ENST00000375254.3	-	38	5265	c.5238G>A	c.(5236-5238)caG>caA	p.Q1746Q	UBR4_ENST00000375217.2_Silent_p.Q1746Q|UBR4_ENST00000375226.2_Silent_p.Q1746Q|UBR4_ENST00000375267.2_Silent_p.Q1746Q	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1746					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGGGTTCACTCTGAAATGCCG	0.517																																						uc001bbi.2		NaN																	0				kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(5236-5238)CAG>CAA		retinoblastoma-associated factor 600							87.0	73.0	78.0					1																	19487579		2203	4300	6503	SO:0001819	synonymous_variant	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19487579C>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.5238G>A	1.37:g.19487579C>T						UBR4_uc001bbm.1_Silent_p.Q957Q	p.Q1746Q	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	38	5242	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	1746					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	c.5238G>A	CCDS189.1																																																																																				0.517	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1		NM_020765		8	23	0	0	0	0.00308	0	8	23		
LDLRAP1	26119	broad.mit.edu	37	1	25893369	25893369	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:25893369C>T	ENST00000374338.4	+	9	932	c.813C>T	c.(811-813)gtC>gtT	p.V271V	LDLRAP1_ENST00000488127.1_3'UTR	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein 1	271	AP-2 complex binding.				amyloid precursor protein metabolic process (GO:0042982)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|positive regulation of cholesterol metabolic process (GO:0090205)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of signal transduction (GO:0009967)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of protein binding (GO:0043393)|transport (GO:0006810)	axon (GO:0030424)|basal plasma membrane (GO:0009925)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|neurofilament (GO:0005883)|recycling endosome (GO:0055037)	AP-2 adaptor complex binding (GO:0035612)|beta-amyloid binding (GO:0001540)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphotyrosine binding (GO:0001784)|receptor signaling complex scaffold activity (GO:0030159)|signaling adaptor activity (GO:0035591)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCTCAGGTCCTGGACACTG	0.657																																						uc001bkl.3		NaN																	0				ovary(1)	1						c.(811-813)GTC>GTT		low density lipoprotein receptor adaptor protein							41.0	33.0	36.0					1																	25893369		2202	4300	6502	SO:0001819	synonymous_variant	26119				amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding	basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome	beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity	g.chr1:25893369C>T	BC029770	CCDS30639.1	1p36-p35	2014-09-17			ENSG00000157978	ENSG00000157978			18640	protein-coding gene	gene with protein product		605747					Standard	NM_015627		Approved	ARH, ARH2, FHCB1, FHCB2, MGC34705, DKFZp586D0624	uc001bkl.4	Q5SW96	OTTHUMG00000007386	ENST00000374338.4:c.813C>T	1.37:g.25893369C>T						LDLRAP1_uc009vrw.2_RNA|LDLRAP1_uc009vrx.2_Silent_p.V101V	p.V271V	NM_015627	NP_056442	Q5SW96	ARH_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)	9	927	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	271			AP-2 complex binding.		A2BHI5|Q6TQS9|Q8N2Y0|Q9UFI9	Silent	SNP	ENST00000374338.4	37	c.813C>T	CCDS30639.1																																																																																				0.657	LDLRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019350.3		NM_015627		5	10	0	0	0	0.000602	0	5	10		
POU3F1	5453	broad.mit.edu	37	1	38511353	38511353	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:38511353C>T	ENST00000373012.2	-	1	1097	c.1063G>A	c.(1063-1065)Gag>Aag	p.E355K	RP5-884C9.2_ENST00000432922.1_lincRNA	NM_002699.3	NP_002690.3	Q03052	PO3F1_HUMAN	POU class 3 homeobox 1	355					axon ensheathment (GO:0008366)|forebrain development (GO:0030900)|keratinocyte differentiation (GO:0030216)|myelination in peripheral nervous system (GO:0022011)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|lung(1)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AAGTGGCTCTCGAGCGCGCCT	0.662																																						uc001ccp.1		NaN																	0					0						c.(1063-1065)GAG>AAG		POU domain, class 3, transcription factor 1							26.0	26.0	26.0					1																	38511353		2202	4300	6502	SO:0001583	missense	5453				positive regulation of transcription, DNA-dependent		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:38511353C>T	L26494	CCDS30679.1	1p34.3	2011-06-20	2007-07-13		ENSG00000185668	ENSG00000185668		"""Homeoboxes / POU class"""	9214	protein-coding gene	gene with protein product		602479	"""POU domain class 3, transcription factor 1"""	OTF6		8451175	Standard	NM_002699		Approved	OCT6, SCIP	uc001ccp.1	Q03052	OTTHUMG00000000485	ENST00000373012.2:c.1063G>A	1.37:g.38511353C>T	ENSP00000362103:p.Glu355Lys						p.E355K	NM_002699	NP_002690	Q03052	PO3F1_HUMAN			1	1098	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	355			Homeobox.		Q5TAG2	Missense_Mutation	SNP	ENST00000373012.2	37	c.1063G>A	CCDS30679.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477611	0.84640	.	.	ENSG00000185668	ENST00000373012	D	0.97575	-4.44	4.03	4.03	0.46877	Homeodomain-related (1);Homeobox (3);POU (1);Homeodomain-like (1);	0.000000	0.85682	U	0.000000	D	0.98372	0.9459	M	0.89601	3.045	0.80722	D	1	D	0.76494	0.999	D	0.63957	0.92	D	0.99139	1.0855	10	0.87932	D	0	.	13.7791	0.63073	0.0:1.0:0.0:0.0	.	355	Q03052	PO3F1_HUMAN	K	355	ENSP00000362103:E355K	ENSP00000362103:E355K	E	-	1	0	POU3F1	38283940	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.337000	0.79256	2.103000	0.63969	0.386000	0.25728	GAG		0.662	POU3F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001213.1		NM_002699		6	10	0	0	0	0.001168	0	6	10		
HPCAL4	51440	broad.mit.edu	37	1	40150121	40150121	+	Missense_Mutation	SNP	T	T	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:40150121T>A	ENST00000372844.3	-	2	546	c.155A>T	c.(154-156)tAc>tTc	p.Y52F		NM_001282396.1|NM_001282397.1|NM_016257.2	NP_001269325.1|NP_001269326.1|NP_057341.1	Q9UM19	HPCL4_HUMAN	hippocalcin like 4	52	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				central nervous system development (GO:0007417)|signal transduction (GO:0007165)	intracellular (GO:0005622)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CACCTTGATGTAGAGCTGCTG	0.632																																						uc001cdr.2		NaN																	0				central_nervous_system(1)	1						c.(154-156)TAC>TTC		hippocalcin-like protein 4							53.0	44.0	47.0					1																	40150121		2203	4300	6503	SO:0001583	missense	51440				central nervous system development	intracellular	calcium ion binding	g.chr1:40150121T>A	AB001105	CCDS441.1, CCDS72761.1	1p34.2	2013-01-10			ENSG00000116983	ENSG00000116983		"""EF-hand domain containing"""	18212	protein-coding gene	gene with protein product						10520747	Standard	NM_016257		Approved	HLP4, DKFZp761G122	uc001cdr.3	Q9UM19	OTTHUMG00000009246	ENST00000372844.3:c.155A>T	1.37:g.40150121T>A	ENSP00000361935:p.Tyr52Phe					HPCAL4_uc010oix.1_Missense_Mutation_p.Y52F	p.Y52F	NM_016257	NP_057341	Q9UM19	HPCL4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		2	275	-	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	52			EF-hand 1.		B2R5U2|D3DPU1|Q5TG97|Q8N611	Missense_Mutation	SNP	ENST00000372844.3	37	c.155A>T	CCDS441.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.206200	0.79127	.	.	ENSG00000116983	ENST00000372844;ENST00000450300	T	0.27256	1.68	4.4	4.4	0.53042	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.32406	0.0828	M	0.72624	2.21	0.80722	D	1	B;P	0.52577	0.285;0.954	B;B	0.43225	0.131;0.412	T	0.37454	-0.9705	10	0.87932	D	0	.	14.3246	0.66509	0.0:0.0:0.0:1.0	.	52;52	B4DGW9;Q9UM19	.;HPCL4_HUMAN	F	52;44	ENSP00000361935:Y52F	ENSP00000361935:Y52F	Y	-	2	0	HPCAL4	39922708	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.884000	0.87274	1.926000	0.55796	0.459000	0.35465	TAC		0.632	HPCAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025640.1		NM_016257		14	14	0	0	0	0.006122	0	14	14		
POMGNT1	55624	broad.mit.edu	37	1	46655654	46655654	+	Missense_Mutation	SNP	C	C	T	rs150351855		TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:46655654C>T	ENST00000371984.3	-	20	1814	c.1657G>A	c.(1657-1659)Gag>Aag	p.E553K	POMGNT1_ENST00000371992.1_Missense_Mutation_p.E553K|POMGNT1_ENST00000485714.1_5'Flank|POMGNT1_ENST00000535522.1_Missense_Mutation_p.E531K|POMGNT1_ENST00000371986.3_Missense_Mutation_p.E553K|POMGNT1_ENST00000396420.3_3'UTR	NM_017739.3	NP_060209	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	553					protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					TCCAGAACCTCAGCCTCACTG	0.522																																						uc001cpe.2		NaN																	0				ovary(1)	1						c.(1657-1659)GAG>AAG		O-linked mannose		C	LYS/GLU	0,4406		0,0,2203	56.0	52.0	53.0		1657	4.2	0.8	1	dbSNP_134	53	1,8599	1.2+/-3.3	0,1,4299	no	missense	POMGNT1	NM_017739.3	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	553/661	46655654	1,13005	2203	4300	6503	SO:0001583	missense	55624				protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity	g.chr1:46655654C>T		CCDS531.1, CCDS57995.1	1p34.1	2014-09-17	2013-07-31		ENSG00000085998	ENSG00000085998	2.4.1.-	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	19139	protein-coding gene	gene with protein product	"""protein O-mannose beta-1,2-N-acetylglucosaminyltransferase"""	606822	"""muscle-eye-brain disease"", ""protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"""	MEB		11742540, 12788071	Standard	NM_017739		Approved	FLJ20277, MGAT1.2, LGMD2O	uc001cpg.3	Q8WZA1	OTTHUMG00000007604	ENST00000371984.3:c.1657G>A	1.37:g.46655654C>T	ENSP00000361052:p.Glu553Lys					POMGNT1_uc010olx.1_Missense_Mutation_p.E531K|POMGNT1_uc010oly.1_RNA|POMGNT1_uc010olz.1_Missense_Mutation_p.E410K|POMGNT1_uc001cpg.2_Missense_Mutation_p.E553K|POMGNT1_uc001cpf.2_Missense_Mutation_p.E220K	p.E553K	NM_017739	NP_060209	Q8WZA1	PMGT1_HUMAN			20	1821	-	Acute lymphoblastic leukemia(166;0.155)		553			Lumenal (Potential).		D3DQ16|Q5VST2|Q5VST3|Q9BV55|Q9H9L8|Q9NXF9|Q9NYF7	Missense_Mutation	SNP	ENST00000371984.3	37	c.1657G>A	CCDS531.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.160090	0.38119	0.0	1.16E-4	ENSG00000085998	ENST00000371984;ENST00000371992;ENST00000535522;ENST00000371986	T;D;T;D	0.81579	-0.57;-1.51;-0.57;-1.51	6.06	4.19	0.49359	.	0.200694	0.51477	D	0.000088	T	0.69088	0.3072	L	0.28694	0.88	0.80722	D	1	B;B;B;B	0.20550	0.007;0.046;0.002;0.002	B;B;B;B	0.20384	0.007;0.029;0.007;0.014	T	0.60362	-0.7278	10	0.16420	T	0.52	-12.4742	13.0486	0.58942	0.0:0.8695:0.0:0.1305	.	531;553;410;553	F5H827;Q5VST3;B7Z7F2;Q8WZA1	.;.;.;PMGT1_HUMAN	K	553;553;531;553	ENSP00000361052:E553K;ENSP00000361060:E553K;ENSP00000443767:E531K;ENSP00000361054:E553K	ENSP00000361052:E553K	E	-	1	0	POMGNT1	46428241	0.932000	0.31603	0.795000	0.32087	0.967000	0.64934	2.034000	0.41145	0.891000	0.36235	0.655000	0.94253	GAG		0.522	POMGNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020146.1		NM_017739		3	16	0	0	0	0.009096	0	3	16		
LRRC41	10489	broad.mit.edu	37	1	46744864	46744864	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:46744864G>C	ENST00000343304.6	-	9	2494	c.2209C>G	c.(2209-2211)Ctg>Gtg	p.L737V	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	737					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CTGATGTCCAGCTGACAGAGA	0.532																																						uc001cpn.2		NaN																	0				ovary(2)|breast(1)|pancreas(1)	4						c.(2209-2211)CTG>GTG		MUF1 protein							58.0	57.0	57.0					1																	46744864		2203	4300	6503	SO:0001583	missense	10489							g.chr1:46744864G>C	AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.2209C>G	1.37:g.46744864G>C	ENSP00000343298:p.Leu737Val					LRRC41_uc010omb.1_3'UTR	p.L737V	NM_006369	NP_006360	Q15345	LRC41_HUMAN			9	2253	-	Acute lymphoblastic leukemia(166;0.155)		737			LRR 7.		A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Missense_Mutation	SNP	ENST00000343304.6	37	c.2209C>G	CCDS533.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.05|16.05	3.013634|3.013634	0.54468|0.54468	.|.	.|.	ENSG00000132128|ENSG00000132128	ENST00000343304|ENST00000371972	T|.	0.76060|.	-0.99|.	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	0.000000|.	0.53938|.	D|.	0.000057|.	T|T	0.60983|0.60983	0.2311|0.2311	L|L	0.32530|0.32530	0.975|0.975	0.52501|0.52501	D|D	0.999951|0.999951	D|.	0.67145|.	0.996|.	D|.	0.72625|.	0.978|.	T|T	0.65565|0.65565	-0.6137|-0.6137	10|6	0.66056|0.87932	D|D	0.02|0	-4.7917|-4.7917	16.8585|16.8585	0.86011|0.86011	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	737|.	Q15345|.	LRC41_HUMAN|.	V|R	737|566	ENSP00000343298:L737V|.	ENSP00000343298:L737V|ENSP00000361040:S566R	L|S	-|-	1|3	2|2	LRRC41|LRRC41	46517451|46517451	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.478000|4.478000	0.60230|0.60230	2.329000|2.329000	0.79093|0.79093	0.561000|0.561000	0.74099|0.74099	CTG|AGC		0.532	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021438.1		NM_006369		24	17	0	0	0	0.007291	0	24	17		
FAF1	11124	broad.mit.edu	37	1	50941244	50941244	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:50941244C>T	ENST00000396153.2	-	18	2212	c.1761G>A	c.(1759-1761)gaG>gaA	p.E587E	FAF1_ENST00000545823.1_Silent_p.E345E|FAF1_ENST00000371778.4_Silent_p.E587E	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	587	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.				apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		GGAAACGCCGCTCCAAGAACT	0.522																																						uc009vyx.1		NaN																	0				ovary(1)|pancreas(1)	2						c.(1759-1761)GAG>GAA		FAS-associated factor 1							68.0	71.0	70.0					1																	50941244		2203	4300	6503	SO:0001819	synonymous_variant	11124				apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	g.chr1:50941244C>T	AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"""UBX domain containing"""	3578	protein-coding gene	gene with protein product	"""TNFRSF6-associated factor 1"", ""UBX domain protein 3A"""	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.1761G>A	1.37:g.50941244C>T						FAF1_uc009vyw.1_RNA|FAF1_uc001cse.1_Silent_p.E587E|FAF1_uc010onc.1_Silent_p.E345E	p.E587E	NM_007051	NP_008982	Q9UNN5	FAF1_HUMAN		GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)	19	1824	-			587			UBX.		Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Silent	SNP	ENST00000396153.2	37	c.1761G>A	CCDS554.1																																																																																				0.522	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021807.1		NM_007051		4	26	0	0	0	0.009096	0	4	26		
CDC7	8317	broad.mit.edu	37	1	91967346	91967346	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:91967346G>A	ENST00000428239.1	+	2	332	c.73G>A	c.(73-75)Gaa>Aaa	p.E25K	CDC7_ENST00000234626.6_Missense_Mutation_p.E25K|CDC7_ENST00000497611.1_3'UTR|CDC7_ENST00000430031.2_Missense_Mutation_p.E25K	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	25					cell cycle phase transition (GO:0044770)|cell division (GO:0051301)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		GTTTCAGGCTGAAGGCTCTTT	0.413																																						uc001doe.2		NaN																	0				stomach(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	5						c.(73-75)GAA>AAA		cell division cycle 7							109.0	116.0	114.0					1																	91967346		2203	4300	6503	SO:0001583	missense	8317				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:91967346G>A	AF015592	CCDS734.1	1p22	2013-01-17	2013-01-17	2003-07-23	ENSG00000097046	ENSG00000097046			1745	protein-coding gene	gene with protein product		603311	"""CDC7 (cell division cycle 7, S. cerevisiae, homolog)-like 1"", ""CDC7 cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 homolog (S. cerevisiae)"""	CDC7L1		9405610, 9250678	Standard	NM_003503		Approved	Hsk1, huCdc7, HsCdc7	uc001dof.3	O00311	OTTHUMG00000047810	ENST00000428239.1:c.73G>A	1.37:g.91967346G>A	ENSP00000393139:p.Glu25Lys					CDC7_uc001dof.2_Missense_Mutation_p.E25K|CDC7_uc010osw.1_Missense_Mutation_p.E25K|CDC7_uc009wdc.2_Missense_Mutation_p.E25K	p.E25K	NM_003503	NP_003494	O00311	CDC7_HUMAN		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)	2	238	+		all_lung(203;0.0165)|Lung NSC(277;0.0562)	25					D3DT31|O00558|Q5T5U5	Missense_Mutation	SNP	ENST00000428239.1	37	c.73G>A	CCDS734.1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.589135	0.66105	.	.	ENSG00000097046	ENST00000430031;ENST00000234626;ENST00000428239;ENST00000426137	T;T;T;T	0.47177	0.85;0.99;0.99;1.9	5.42	5.42	0.78866	.	0.733407	0.13973	N	0.350029	T	0.17195	0.0413	N	0.14661	0.345	0.33911	D	0.639754	B;B	0.28713	0.084;0.22	B;B	0.23275	0.014;0.045	T	0.04551	-1.0943	10	0.20519	T	0.43	-0.6403	16.7292	0.85431	0.0:0.0:1.0:0.0	.	25;25	B7Z5H7;O00311	.;CDC7_HUMAN	K	25	ENSP00000407477:E25K;ENSP00000234626:E25K;ENSP00000393139:E25K;ENSP00000398077:E25K	ENSP00000234626:E25K	E	+	1	0	CDC7	91739934	1.000000	0.71417	0.965000	0.40720	0.566000	0.35808	3.826000	0.55738	2.689000	0.91719	0.591000	0.81541	GAA		0.413	CDC7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027928.1		NM_003503		24	90	0	0	0	0.003954	0	24	90		
GLMN	11146	broad.mit.edu	37	1	92757089	92757089	+	Silent	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:92757089G>A	ENST00000370360.3	-	4	252	c.171C>T	c.(169-171)atC>atT	p.I57I	GLMN_ENST00000534881.1_Silent_p.I57I	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	57					muscle cell differentiation (GO:0042692)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of T cell proliferation (GO:0042130)|neural tube closure (GO:0001843)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of phosphorylation (GO:0042327)|regulation of gene expression, epigenetic (GO:0040029)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|vasculogenesis (GO:0001570)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul3-RING ubiquitin ligase complex (GO:0031463)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cullin-RING ubiquitin ligase complex (GO:0031461)|intracellular (GO:0005622)	hepatocyte growth factor receptor binding (GO:0005171)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase inhibitor activity (GO:0055105)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TATTCTTGATGATGACCTGTA	0.373									Multiple Glomus Tumors (of the Skin), Familial																													uc001dor.2		NaN																	0				skin(1)	1						c.(169-171)ATC>ATT		glomulin							87.0	82.0	84.0					1																	92757089		2203	4300	6503	SO:0001819	synonymous_variant	11146	Multiple_Glomus_Tumors_(of_the_Skin)_Familial	Familial Cancer Database	Multiple Familial Glomangiomas, Hereditary Multiple Glomus Tumors, Familial Multiple Glomangiomatosis, Inherited Cutaneous Venous Anomalies, incl. Familial Multiple Glomangiomyoma	muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding	g.chr1:92757089G>A	U73704	CCDS738.1	1p22.1	2008-02-05	2004-07-01		ENSG00000174842	ENSG00000174842			14373	protein-coding gene	gene with protein product		601749	"""venous malformation with glomus cells"""	VMGLOM		8955134	Standard	XM_005270400		Approved	FAP48, GLML, GVM, FKBPAP	uc001dor.3	Q92990	OTTHUMG00000010283	ENST00000370360.3:c.171C>T	1.37:g.92757089G>A						GLMN_uc009wdg.2_RNA|GLMN_uc001dos.2_Silent_p.I57I	p.I57I	NM_053274	NP_444504	Q92990	GLMN_HUMAN		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)	4	286	-		all_lung(203;0.00827)|Lung NSC(277;0.0295)	57					Q5VVC3|Q9BVE8	Silent	SNP	ENST00000370360.3	37	c.171C>T	CCDS738.1																																																																																				0.373	GLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028358.1		NM_007070		9	25	0	0	0	0.010729	0	9	25		
TMED5	50999	broad.mit.edu	37	1	93646208	93646208	+	5'UTR	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:93646208C>T	ENST00000370282.3	-	0	77				CCDC18_ENST00000338949.4_5'UTR|CCDC18_ENST00000557479.1_Missense_Mutation_p.R41W|CCDC18_ENST00000401026.3_5'UTR|TMED5_ENST00000370280.1_5'Flank|CCDC18_ENST00000343253.7_Intron|TMED5_ENST00000479918.1_5'Flank|CCDC18_ENST00000334652.5_5'UTR	NM_016040.4	NP_057124.3	Q9Y3A6	TMED5_HUMAN	transmembrane emp24 protein transport domain containing 5						Golgi ribbon formation (GO:0090161)|protein transport (GO:0015031)	cis-Golgi network (GO:0005801)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6		all_lung(203;0.0223)|Lung NSC(277;0.071)|Melanoma(281;0.147)|Glioma(108;0.188)		all cancers(265;0.00108)|GBM - Glioblastoma multiforme(16;0.00407)|Epithelial(280;0.0797)		CCCGCGCCTTCGGCGGCGCCT	0.721																																						uc001dpq.2		NaN																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(121-123)CGG>TGG		sarcoma antigen NY-SAR-41							13.0	15.0	14.0					1																	93646208		1778	3983	5761	SO:0001623	5_prime_UTR_variant	343099							g.chr1:93646208C>T	BC070051	CCDS743.1, CCDS53342.1	1p22.1	2013-09-19			ENSG00000117500	ENSG00000117500			24251	protein-coding gene	gene with protein product						10810093	Standard	NM_016040		Approved	CGI-100	uc001dpn.3	Q9Y3A6	OTTHUMG00000010162	ENST00000370282.3:c.-409G>A	1.37:g.93646208C>T						TMED5_uc001dpn.2_5'UTR|TMED5_uc001dpo.2_5'UTR|TMED5_uc001dpp.2_RNA	p.R41W	NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	1	289	+		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)	Error:Variant_position_missing_in_Q5T9S5_after_alignment					B1AKT4|B2R703|D3DT38|Q96AX8	Missense_Mutation	SNP	ENST00000370282.3	37	c.121C>T	CCDS743.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.627853	0.46944	.	.	ENSG00000122483	ENST00000557479	.	.	.	4.77	-9.55	0.00569	.	.	.	.	.	T	0.10208	0.0250	.	.	.	0.20196	N	0.999924	B	0.02656	0.0	B	0.01281	0.0	T	0.31110	-0.9955	7	0.54805	T	0.06	.	9.2507	0.37554	0.0:0.1419:0.2862:0.5719	.	41	G3V388	.	W	41	.	ENSP00000383808:R41W	R	+	1	2	CCDC18	93418796	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.397000	0.01051	-2.374000	0.00599	-0.291000	0.09656	CGG		0.721	TMED5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028076.3		NM_016040		20	9	0	0	0	0.007413	0	20	9		
KCNA2	3737	broad.mit.edu	37	1	111147122	111147122	+	Missense_Mutation	SNP	C	C	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:111147122C>A	ENST00000485317.1	-	3	956	c.283G>T	c.(283-285)Ggg>Tgg	p.G95W	KCNA2_ENST00000316361.4_Missense_Mutation_p.G95W|KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000440270.1_Missense_Mutation_p.G95W|KCNA2_ENST00000369770.3_Missense_Mutation_p.G95W			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	95					optic nerve structural organization (GO:0021633)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	Dalfampridine(DB06637)	AATCGGCCCCCTGACTGGTAG	0.473																																					Pancreas(18;568 735 10587 23710 36357)	uc001dzu.2		NaN																	0				ovary(1)	1						c.(283-285)GGG>TGG		potassium voltage-gated channel, shaker-related							47.0	51.0	50.0					1																	111147122		2203	4300	6503	SO:0001583	missense	3737					juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111147122C>A	L02752	CCDS827.1, CCDS55625.1	1p13	2012-07-05			ENSG00000177301	ENSG00000177301		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6220	protein-coding gene	gene with protein product		176262				16382104	Standard	NM_004974		Approved	Kv1.2, HK4	uc009wfw.3	P16389	OTTHUMG00000011567	ENST00000485317.1:c.283G>T	1.37:g.111147122C>A	ENSP00000433109:p.Gly95Trp					KCNA2_uc009wfv.1_Missense_Mutation_p.G95W|KCNA2_uc009wfw.2_Missense_Mutation_p.G95W	p.G95W	NM_004974	NP_004965	P16389	KCNA2_HUMAN		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	2	779	-		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	95					Q86XG6	Missense_Mutation	SNP	ENST00000485317.1	37	c.283G>T	CCDS827.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.472727	0.63737	.	.	ENSG00000177301	ENST00000369770;ENST00000485317;ENST00000440270;ENST00000316361	D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55	6.02	6.02	0.97574	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.94571	0.8251	H	0.96996	3.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95325	0.8424	10	0.87932	D	0	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	95;95	Q86XG6;P16389	.;KCNA2_HUMAN	W	95	ENSP00000358785:G95W;ENSP00000433109:G95W;ENSP00000415257:G95W;ENSP00000314520:G95W	ENSP00000314520:G95W	G	-	1	0	KCNA2	110948645	1.000000	0.71417	0.973000	0.42090	0.844000	0.47949	7.770000	0.85390	2.865000	0.98341	0.655000	0.94253	GGG		0.473	KCNA2-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128001.2		NM_004974		12	48	1	0	0.000978159	0.010729	0.00101028	12	48		
SIKE1	80143	broad.mit.edu	37	1	115318966	115318966	+	Splice_Site	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:115318966C>T	ENST00000060969.5	-	4	592		c.e4+1		SIKE1_ENST00000369528.5_Splice_Site|SIKE1_ENST00000506320.1_5'Flank			Q9BRV8	SIKE1_HUMAN	suppressor of IKBKE 1						innate immune response (GO:0045087)	cytosol (GO:0005829)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6						TACAATCTTACCTCTAATTGG	0.373																																						uc001efo.3		NaN																	0					0						c.e4+1		suppressor of IKK epsilon isoform 2							150.0	146.0	147.0					1																	115318966		2203	4300	6503	SO:0001630	splice_region_variant	80143					cytosol	protein binding	g.chr1:115318966C>T	AK024821	CCDS878.1, CCDS41371.1	1p13.1	2009-08-13			ENSG00000052723	ENSG00000052723			26119	protein-coding gene	gene with protein product	"""suppressor of IKK epsilon"""	611656				16281057	Standard	NM_025073		Approved	FLJ21168, SIKE	uc001efp.4	Q9BRV8	OTTHUMG00000012061	ENST00000060969.5:c.522+1G>A	1.37:g.115318966C>T						SIKE1_uc001efp.3_Splice_Site_p.E178_splice	p.E174_splice	NM_025073	NP_079349	Q9BRV8	SIKE1_HUMAN			4	602	-								Q5TEZ7|Q5TEZ9|Q68DZ4|Q9H778	Splice_Site	SNP	ENST00000060969.5	37	c.522_splice	CCDS878.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.751782	0.89753	.	.	ENSG00000052723	ENST00000369528;ENST00000060969	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6101	0.95602	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SIKE1	115120489	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.217000	0.77982	2.717000	0.92951	0.585000	0.79938	.		0.373	SIKE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033401.1		NM_025073	Intron	17	62	0	0	0	0.00499	0	17	62		
SPAG17	200162	broad.mit.edu	37	1	118640299	118640299	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:118640299C>T	ENST00000336338.5	-	7	1070	c.1005G>A	c.(1003-1005)gaG>gaA	p.E335E		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	335						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TAACCATCATCTCACCATCTG	0.393																																						uc001ehk.2		NaN																	0				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(1003-1005)GAG>GAA		sperm associated antigen 17							167.0	140.0	149.0					1																	118640299		2203	4300	6503	SO:0001819	synonymous_variant	200162					cilium|flagellar axoneme|microtubule		g.chr1:118640299C>T		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.1005G>A	1.37:g.118640299C>T							p.E335E	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	7	1073	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	335					Q8NAZ1|Q9NT21	Silent	SNP	ENST00000336338.5	37	c.1005G>A	CCDS899.1																																																																																				0.393	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1		NM_206996		6	18	0	0	0	0.004482	0	6	18		
SETDB1	9869	broad.mit.edu	37	1	150923028	150923028	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:150923028C>T	ENST00000271640.5	+	13	1865	c.1675C>T	c.(1675-1677)Cca>Tca	p.P559S	SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Missense_Mutation_p.P559S	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	559					bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGAGCGGGCCCCAGCAGAGCC	0.587																																						uc001evu.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(1675-1677)CCA>TCA		SET domain, bifurcated 1 isoform 1							73.0	80.0	78.0					1																	150923028		2203	4300	6503	SO:0001583	missense	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150923028C>T	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.1675C>T	1.37:g.150923028C>T	ENSP00000271640:p.Pro559Ser					SETDB1_uc009wmf.2_Missense_Mutation_p.P560S|SETDB1_uc001evv.2_Missense_Mutation_p.P559S|SETDB1_uc009wmg.1_Missense_Mutation_p.P559S	p.P559S	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		13	1865	+	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		559					A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	ENST00000271640.5	37	c.1675C>T	CCDS44217.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.725476	0.89298	.	.	ENSG00000143379	ENST00000271640;ENST00000534805;ENST00000368969;ENST00000498193	D;T;D;T	0.89343	-2.5;1.4;-2.5;0.98	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.87962	0.6310	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.994;0.998;0.998;0.994	D	0.84743	0.0752	10	0.15066	T	0.55	.	17.7942	0.88565	0.0:1.0:0.0:0.0	.	559;560;559;559	E9PRF4;E9PQM8;Q15047-3;Q15047	.;.;.;SETB1_HUMAN	S	559;560;559;559	ENSP00000271640:P559S;ENSP00000436148:P560S;ENSP00000357965:P559S;ENSP00000432348:P559S	ENSP00000271640:P559S	P	+	1	0	SETDB1	149189652	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	4.831000	0.62752	2.540000	0.85666	0.655000	0.94253	CCA		0.587	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2				29	179	0	0	0	0.00632	0	29	179		
SHE	126669	broad.mit.edu	37	1	154459062	154459062	+	Silent	SNP	G	G	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:154459062G>T	ENST00000304760.2	-	4	1208	c.1122C>A	c.(1120-1122)gcC>gcA	p.A374A		NM_001010846.2	NP_001010846.1	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E	374										breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGTCCGAGAGGGCTGGCTTCA	0.597																																						uc001ffb.2		NaN																	0				breast(3)|ovary(2)|central_nervous_system(1)	6						c.(1120-1122)GCC>GCA		Src homology 2 domain containing E							89.0	84.0	86.0					1																	154459062		2203	4300	6503	SO:0001819	synonymous_variant	126669							g.chr1:154459062G>T	AK074067	CCDS30877.1	1q21.3	2013-02-14			ENSG00000169291	ENSG00000169291		"""SH2 domain containing"""	27004	protein-coding gene	gene with protein product		610482				9315092	Standard	NM_001010846		Approved		uc001ffb.3	Q5VZ18	OTTHUMG00000036072	ENST00000304760.2:c.1122C>A	1.37:g.154459062G>T						SHE_uc001ffc.2_RNA	p.A374A	NM_001010846	NP_001010846	Q5VZ18	SHE_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		4	1209	-	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		374					Q8TEQ5	Silent	SNP	ENST00000304760.2	37	c.1122C>A	CCDS30877.1	.	.	.	.	.	.	.	.	.	.	G	5.940	0.357403	0.11239	.	.	ENSG00000169291	ENST00000555188	.	.	.	5.37	-3.46	0.04767	.	.	.	.	.	T	0.07728	0.0194	.	.	.	0.19300	N	0.999978	.	.	.	.	.	.	T	0.35400	-0.9790	4	.	.	.	-17.7169	3.8641	0.09008	0.1285:0.374:0.3078:0.1897	.	.	.	.	T	72	.	.	P	-	1	0	SHE	152725686	0.152000	0.22762	0.004000	0.12327	0.693000	0.40251	0.701000	0.25616	-0.456000	0.07043	-0.282000	0.10007	CCT		0.597	SHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087910.2		NM_001010846		29	106	1	0	1.32181e-22	0.007291	1.4995e-22	29	106		
DCST1	149095	broad.mit.edu	37	1	155013956	155013956	+	Silent	SNP	G	G	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:155013956G>T	ENST00000295542.1	+	7	711	c.615G>T	c.(613-615)acG>acT	p.T205T	DCST1_ENST00000392480.1_Silent_p.T205T|DCST1_ENST00000368419.2_Silent_p.T205T|DCST1_ENST00000423025.2_Silent_p.T180T	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	205						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			ATAGTGAGACGGGCTACACGC	0.587																																						uc001fgn.1		NaN																	0				ovary(1)|skin(1)	2						c.(613-615)ACG>ACT		DC-STAMP domain containing 1 isoform 1							53.0	53.0	53.0					1																	155013956		2203	4300	6503	SO:0001819	synonymous_variant	149095					integral to membrane	zinc ion binding	g.chr1:155013956G>T	AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.615G>T	1.37:g.155013956G>T						DCST1_uc010per.1_Silent_p.T230T|DCST1_uc010pes.1_Silent_p.T180T	p.T205T	NM_152494	NP_689707	Q5T197	DCST1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		7	711	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		205			Extracellular (Potential).		B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Silent	SNP	ENST00000295542.1	37	c.615G>T	CCDS1083.1																																																																																				0.587	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099006.1		NM_152494		12	87	1	0	6.42651e-13	0.010729	6.99237e-13	12	87		
DCST1	149095	broad.mit.edu	37	1	155023327	155023327	+	Missense_Mutation	SNP	A	A	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:155023327A>G	ENST00000295542.1	+	17	2200	c.2104A>G	c.(2104-2106)Act>Gct	p.T702A	ADAM15_ENST00000359280.4_5'Flank|ADAM15_ENST00000368410.2_5'Flank|ADAM15_ENST00000449910.2_5'Flank|ADAM15_ENST00000355956.2_5'Flank|ADAM15_ENST00000356955.2_5'Flank|ADAM15_ENST00000368412.3_5'Flank|ADAM15_ENST00000447332.3_5'Flank|ADAM15_ENST00000531455.1_5'Flank|ADAM15_ENST00000368413.1_5'Flank|DCST1_ENST00000423025.2_Missense_Mutation_p.T677A|ADAM15_ENST00000271836.6_5'Flank|ADAM15_ENST00000360674.4_5'Flank	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	702						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CAACGACGACACTGCCTACGC	0.637											OREG0013846	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001fgn.1		NaN																	0				ovary(1)|skin(1)	2						c.(2104-2106)ACT>GCT		DC-STAMP domain containing 1 isoform 1							33.0	33.0	33.0					1																	155023327		2203	4300	6503	SO:0001583	missense	149095					integral to membrane	zinc ion binding	g.chr1:155023327A>G	AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.2104A>G	1.37:g.155023327A>G	ENSP00000295542:p.Thr702Ala		OREG0013846	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1767	DCST1_uc010pes.1_Missense_Mutation_p.T677A|uc001fgo.2_RNA|ADAM15_uc001fgq.1_5'Flank|ADAM15_uc009wpc.1_5'Flank|ADAM15_uc010pet.1_5'Flank|ADAM15_uc010peu.1_5'Flank|ADAM15_uc001fgt.1_5'Flank|ADAM15_uc010pev.1_5'Flank|ADAM15_uc001fgs.1_5'Flank|ADAM15_uc001fgr.1_5'Flank|ADAM15_uc001fgu.1_5'Flank|ADAM15_uc001fgw.1_5'Flank|ADAM15_uc001fgv.1_5'Flank|ADAM15_uc001fgx.1_5'Flank|ADAM15_uc001fgz.1_5'Flank|ADAM15_uc001fgy.1_5'Flank|ADAM15_uc001fha.1_5'Flank	p.T702A	NM_152494	NP_689707	Q5T197	DCST1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		17	2200	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		702			Cytoplasmic (Potential).		B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Missense_Mutation	SNP	ENST00000295542.1	37	c.2104A>G	CCDS1083.1	.	.	.	.	.	.	.	.	.	.	A	17.04	3.286244	0.59867	.	.	ENSG00000163357	ENST00000295542;ENST00000423025	T;T	0.20069	2.1;2.1	5.49	2.29	0.28610	.	0.401758	0.23660	N	0.045838	T	0.01454	0.0047	N	0.00926	-1.1	0.58432	D	0.999997	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46541	-0.9184	10	0.05959	T	0.93	-2.2224	8.4335	0.32773	0.2179:0.0:0.7821:0.0	.	677;702	E9PHV3;Q5T197	.;DCST1_HUMAN	A	702;677	ENSP00000295542:T702A;ENSP00000387369:T677A	ENSP00000295542:T702A	T	+	1	0	DCST1	153289951	0.267000	0.24122	0.307000	0.25127	0.940000	0.58332	0.452000	0.21795	0.150000	0.19136	0.533000	0.62120	ACT		0.637	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099006.1		NM_152494		22	12	0	0	0	0.00278	0	22	12		
SCAMP3	10067	broad.mit.edu	37	1	155226174	155226174	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:155226174G>A	ENST00000302631.3	-	9	1041	c.934C>T	c.(934-936)Cag>Tag	p.Q312*	FAM189B_ENST00000368368.3_5'Flank|FAM189B_ENST00000361361.2_5'Flank|FAM189B_ENST00000472550.1_5'Flank|SCAMP3_ENST00000355379.3_Nonsense_Mutation_p.Q286*|FAM189B_ENST00000350210.2_5'Flank|SCAMP3_ENST00000472397.1_5'UTR	NM_005698.3	NP_005689.2	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	312					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|response to retinoic acid (GO:0032526)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGGGCCTTCTGAAAGCTGGCA	0.582																																						uc001fjs.2		NaN																	0				ovary(3)	3						c.(934-936)CAG>TAG		secretory carrier membrane protein 3 isoform 1							96.0	107.0	103.0					1																	155226174		2203	4300	6503	SO:0001587	stop_gained	10067				post-Golgi vesicle-mediated transport|protein transport	integral to membrane		g.chr1:155226174G>A	AF005039	CCDS1105.1, CCDS1106.1	1q21	2013-02-21			ENSG00000116521	ENSG00000116521		"""Secretory carrier membrane proteins"""	10565	protein-coding gene	gene with protein product	"""Propin 1"""	606913		C1orf3		9331372, 9658162	Standard	NM_005698		Approved		uc001fjs.3	O14828	OTTHUMG00000035874	ENST00000302631.3:c.934C>T	1.37:g.155226174G>A	ENSP00000307275:p.Gln312*					RAG1AP1_uc010pey.1_Intron|FAM189B_uc001fjm.2_5'Flank|FAM189B_uc001fjn.2_5'Flank|FAM189B_uc001fjo.2_5'Flank|FAM189B_uc001fjp.2_5'Flank|FAM189B_uc001fjq.1_5'Flank|SCAMP3_uc001fjr.2_Nonsense_Mutation_p.Q159*|SCAMP3_uc001fju.2_Nonsense_Mutation_p.Q298*|SCAMP3_uc001fjv.2_3'UTR|SCAMP3_uc001fjt.2_Nonsense_Mutation_p.Q286*	p.Q312*	NM_005698	NP_005689	O14828	SCAM3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		9	1187	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		312			Cytoplasmic (Potential).		A9Z1W6|B1AVS6|O15128|Q96FR8|Q9BPY0	Nonsense_Mutation	SNP	ENST00000302631.3	37	c.934C>T	CCDS1105.1	.	.	.	.	.	.	.	.	.	.	G	37	6.047517	0.97236	.	.	ENSG00000116521	ENST00000302631;ENST00000355379	.	.	.	5.52	3.64	0.41730	.	0.062767	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-9.9284	9.0801	0.36547	0.0804:0.1492:0.7704:0.0	.	.	.	.	X	312;286	.	ENSP00000307275:Q312X	Q	-	1	0	SCAMP3	153492798	1.000000	0.71417	0.991000	0.47740	0.945000	0.59286	4.400000	0.59709	0.880000	0.35969	-0.175000	0.13238	CAG		0.582	SCAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087399.1		NM_005698		46	236	0	0	0	0.01441	0	46	236		
GON4L	54856	broad.mit.edu	37	1	155736062	155736062	+	Missense_Mutation	SNP	A	A	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:155736062A>G	ENST00000368331.1	-	21	3250	c.3202T>C	c.(3202-3204)Tct>Cct	p.S1068P	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Missense_Mutation_p.S1068P|GON4L_ENST00000437809.1_Missense_Mutation_p.S1068P|GON4L_ENST00000271883.5_Missense_Mutation_p.S1068P	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1068					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)					GCTGCAGGAGACTCAAAACTC	0.567																																						uc001flz.2		NaN																	0				ovary(3)	3						c.(3202-3204)TCT>CCT		gon-4-like isoform a							50.0	48.0	49.0					1																	155736062		2203	4300	6503	SO:0001583	missense	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155736062A>G	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.3202T>C	1.37:g.155736062A>G	ENSP00000357315:p.Ser1068Pro					GON4L_uc009wrg.1_RNA|GON4L_uc001fly.1_Missense_Mutation_p.S1068P|GON4L_uc009wrh.1_Missense_Mutation_p.S1068P|GON4L_uc001fma.1_Missense_Mutation_p.S1068P|GON4L_uc001fmb.3_Missense_Mutation_p.S264P|GON4L_uc001fmc.2_Missense_Mutation_p.S1068P|GON4L_uc001fmd.3_Missense_Mutation_p.S1068P|GON4L_uc009wri.2_Missense_Mutation_p.S654P	p.S1068P	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN			21	3299	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		1068					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37	c.3202T>C		.	.	.	.	.	.	.	.	.	.	A	11.39	1.623380	0.28889	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000361040	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.28	0.382	0.16234	.	0.426528	0.22591	N	0.058096	T	0.30510	0.0767	L	0.47716	1.5	0.09310	N	1	D;P;P;D	0.55385	0.963;0.95;0.95;0.971	P;P;B;P	0.50754	0.648;0.649;0.424;0.628	T	0.12293	-1.0553	10	0.45353	T	0.12	.	5.2208	0.15368	0.5806:0.0:0.2888:0.1307	.	1068;264;1068;1068	Q3T8J9-2;Q1ED43;Q3T8J9;Q3T8J9-3	.;.;GON4L_HUMAN;.	P	1068	ENSP00000396117:S1068P;ENSP00000357315:S1068P;ENSP00000271883:S1068P;ENSP00000354322:S1068P	ENSP00000271883:S1068P	S	-	1	0	GON4L	154002686	0.407000	0.25352	0.625000	0.29200	0.224000	0.24922	0.286000	0.18902	0.143000	0.18926	-0.258000	0.10820	TCT		0.567	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_032292		52	13	0	0	0	0.01441	0	52	13		
CD84	8832	broad.mit.edu	37	1	160520800	160520800	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:160520800G>T	ENST00000311224.4	-	6	903	c.837C>A	c.(835-837)taC>taA	p.Y279*	RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000368051.3_Intron|CD84_ENST00000368048.3_Nonsense_Mutation_p.Y273*|CD84_ENST00000368054.3_Nonsense_Mutation_p.Y262*|CD84_ENST00000368047.3_5'Flank|CD84_ENST00000534968.1_Nonsense_Mutation_p.Y148*	NM_001184879.1	NP_001171808.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	279					blood coagulation (GO:0007596)|defense response (GO:0006952)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TGATATATGTGTATATGGTTT	0.423																																						uc001fwh.3		NaN																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(835-837)TAC>TAA		CD84 molecule							232.0	227.0	229.0					1																	160520800		2203	4300	6503	SO:0001587	stop_gained	8832				blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity	g.chr1:160520800G>T	AF054816	CCDS1206.1, CCDS53395.1, CCDS53396.1, CCDS53397.1	1q24	2013-01-11	2006-03-31		ENSG00000066294	ENSG00000066294		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1704	protein-coding gene	gene with protein product		604513	"""CD84 antigen (leukocyte antigen)"", ""CD84 molecule """			9310491	Standard	NM_003874		Approved	SLAMF5, hCD84, mCD84	uc001fwh.4	Q9UIB8	OTTHUMG00000022788	ENST00000311224.4:c.837C>A	1.37:g.160520800G>T	ENSP00000312367:p.Tyr279*					CD84_uc001fwf.3_Nonsense_Mutation_p.Y262*|CD84_uc001fwg.3_Nonsense_Mutation_p.Y273*|CD84_uc009wtn.2_Intron|CD84_uc001fwi.3_Nonsense_Mutation_p.Y148*	p.Y279*	NM_003874	NP_003865	Q9UIB8	SLAF5_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		6	861	-	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		279	Y->F: Reduced tyrosine phosphorylation, reduced binding of SH2D1B and loss of binding of SH2D1A.		Cytoplasmic (Potential).|ITSM motif 1.		B2R8T1|B7Z3R8|O15430|O95266|O95660|Q5H9R1|Q6FHA8|Q8WLP1|Q8WWI8|Q9UF04|Q9UIB6|Q9UIB7|Q9UIT7	Nonsense_Mutation	SNP	ENST00000311224.4	37	c.837C>A	CCDS53396.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.468704	0.63625	.	.	ENSG00000066294	ENST00000534968;ENST00000368054;ENST00000368048;ENST00000311224	.	.	.	4.2	-0.0838	0.13692	.	3.732670	0.00899	N	0.002331	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.3805	6.3894	0.21579	0.5529:0.0:0.4471:0.0	.	.	.	.	X	148;262;273;279	.	ENSP00000312367:Y279X	Y	-	3	2	CD84	158787424	0.268000	0.24133	0.005000	0.12908	0.118000	0.20060	0.567000	0.23608	-0.008000	0.14320	0.650000	0.86243	TAC		0.423	CD84-003	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059092.1		NM_003874		40	79	1	0	2.26627e-22	0.007835	2.55417e-22	40	79		
LMX1A	4009	broad.mit.edu	37	1	165173230	165173230	+	Missense_Mutation	SNP	T	T	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:165173230T>A	ENST00000342310.3	-	9	1418	c.1036A>T	c.(1036-1038)Agt>Tgt	p.S346C	LMX1A_ENST00000294816.2_Missense_Mutation_p.S346C|LMX1A_ENST00000367893.4_Missense_Mutation_p.S346C|LMX1A_ENST00000489443.2_5'UTR	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	346					axon guidance (GO:0007411)|central nervous system neuron differentiation (GO:0021953)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|dopaminergic neuron differentiation (GO:0071542)|midbrain development (GO:0030901)|negative regulation of neuron differentiation (GO:0045665)|regulation of cell growth (GO:0001558)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CCCAGGTTACTGAGGGAGGTG	0.507																																						uc001gcy.1		NaN																	0				central_nervous_system(3)|upper_aerodigestive_tract(1)|pancreas(1)	5						c.(1036-1038)AGT>TGT		LIM homeobox transcription factor 1, alpha							110.0	104.0	106.0					1																	165173230		2203	4300	6503	SO:0001583	missense	4009					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:165173230T>A	AY078391	CCDS1247.1	1q24.1	2011-06-20			ENSG00000162761	ENSG00000162761		"""Homeoboxes / LIM class"""	6653	protein-coding gene	gene with protein product		600298		LMX1		7698771	Standard	NM_177398		Approved	LMX1.1	uc001gcz.2	Q8TE12	OTTHUMG00000034575	ENST00000342310.3:c.1036A>T	1.37:g.165173230T>A	ENSP00000340226:p.Ser346Cys					LMX1A_uc001gcz.1_Missense_Mutation_p.S346C|LMX1A_uc001gcw.1_Missense_Mutation_p.S64C|LMX1A_uc001gcx.1_Missense_Mutation_p.S97C	p.S346C	NM_177398	NP_796372	Q8TE12	LMX1A_HUMAN			8	1257	-	all_hematologic(923;0.248)		346					B3KXP6|Q0VDB5|Q5VWG4|Q8TE11	Missense_Mutation	SNP	ENST00000342310.3	37	c.1036A>T	CCDS1247.1	.	.	.	.	.	.	.	.	.	.	T	18.88	3.718075	0.68844	.	.	ENSG00000162761	ENST00000342310;ENST00000294816;ENST00000367893	D;D;D	0.87179	-2.22;-2.22;-2.22	5.14	5.14	0.70334	.	0.253377	0.45361	D	0.000361	T	0.79787	0.4506	N	0.17474	0.49	0.33657	D	0.609244	D	0.57571	0.98	P	0.52672	0.706	D	0.84210	0.0455	9	0.54805	T	0.06	.	14.7854	0.69800	0.0:0.0:0.0:1.0	.	346	Q8TE12	LMX1A_HUMAN	C	346	ENSP00000340226:S346C;ENSP00000294816:S346C;ENSP00000356868:S346C	ENSP00000294816:S346C	S	-	1	0	LMX1A	163439854	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.583000	0.67484	2.155000	0.67459	0.459000	0.35465	AGT		0.507	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083668.2		NM_177398		8	86	0	0	0	0.00308	0	8	86		
SCYL3	57147	broad.mit.edu	37	1	169857941	169857941	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:169857941C>G	ENST00000367770.1	-	1	88	c.41G>C	c.(40-42)aGa>aCa	p.R14T	SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367772.4_Missense_Mutation_p.R14T|SCYL3_ENST00000367771.6_Missense_Mutation_p.R14T			Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	14	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGGTGGTTCTCTCAGTGTATA	0.423																																						uc001ggs.2		NaN																	0				ovary(1)|skin(1)	2						c.(40-42)AGA>ACA		SCY1-like 3 isoform 2							197.0	180.0	186.0					1																	169857941		2203	4300	6503	SO:0001583	missense	57147				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity	g.chr1:169857941C>G	BC014662	CCDS1286.1, CCDS1287.1	1q24.2	2008-02-05			ENSG00000000457	ENSG00000000457			19285	protein-coding gene	gene with protein product	"""ezrin-binding partner PACE-1"""	608192				12651155	Standard	NM_020423		Approved	PACE-1, PACE1	uc001ggs.3	Q8IZE3	OTTHUMG00000035941	ENST00000367770.1:c.41G>C	1.37:g.169857941C>G	ENSP00000356744:p.Arg14Thr					SCYL3_uc001ggt.2_Missense_Mutation_p.R14T|SCYL3_uc001ggu.2_RNA	p.R14T	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN			2	239	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		14			Protein kinase.		A8K8Z2|Q5THA6|Q5THA8|Q8IZN9|Q96C56|Q9UBK6	Missense_Mutation	SNP	ENST00000367770.1	37	c.41G>C	CCDS1287.1	.	.	.	.	.	.	.	.	.	.	T	8.934	0.964053	0.18583	.	.	ENSG00000000457	ENST00000367772;ENST00000367771;ENST00000367770;ENST00000423670	T;T;T;T	0.13901	2.56;2.55;2.56;2.55	5.28	1.66	0.24008	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.461885	0.25732	N	0.028668	T	0.01254	0.0041	N	0.03608	-0.345	0.09310	N	0.999996	B;B	0.21452	0.056;0.028	B;B	0.22753	0.041;0.019	T	0.47315	-0.9127	9	.	.	.	-1.5715	5.3441	0.16000	0.0:0.216:0.2539:0.5301	.	14;14	Q8IZE3-2;Q8IZE3	.;PACE1_HUMAN	T	14	ENSP00000356746:R14T;ENSP00000356745:R14T;ENSP00000356744:R14T;ENSP00000407993:R14T	.	R	-	2	0	SCYL3	168124565	0.999000	0.42202	0.007000	0.13788	0.303000	0.27691	1.504000	0.35726	-0.132000	0.11557	-0.254000	0.11334	AGA		0.423	SCYL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087550.4		NM_181093		10	72	0	0	0	0.008291	0	10	72		
LHX4	89884	broad.mit.edu	37	1	180217472	180217472	+	Silent	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:180217472G>A	ENST00000263726.2	+	2	373	c.129G>A	c.(127-129)ctG>ctA	p.L43L		NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	43	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						AGTTCATCCTGAAGGTCCTGG	0.592																																						uc001goe.1		NaN																	0				ovary(1)	1						c.(127-129)CTG>CTA		LIM homeobox protein 4							71.0	60.0	64.0					1																	180217472		2203	4300	6503	SO:0001819	synonymous_variant	89884					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:180217472G>A	AB037683	CCDS1338.1	1q25.3	2011-06-20			ENSG00000121454	ENSG00000121454		"""Homeoboxes / LIM class"""	21734	protein-coding gene	gene with protein product		602146				11844481, 11567216	Standard	NM_033343		Approved	Gsh4	uc001goe.2	Q969G2	OTTHUMG00000035115	ENST00000263726.2:c.129G>A	1.37:g.180217472G>A							p.L43L	NM_033343	NP_203129	Q969G2	LHX4_HUMAN			2	352	+			43			LIM zinc-binding 1.		Q8NHE0|Q8NHM1|Q8TCJ1|Q8WWX2|Q969W2	Silent	SNP	ENST00000263726.2	37	c.129G>A	CCDS1338.1																																																																																				0.592	LHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084995.2		NM_033343		8	49	0	0	0	0.00308	0	8	49		
ASPM	259266	broad.mit.edu	37	1	197112811	197112811	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:197112811G>A	ENST00000367409.4	-	3	827	c.571C>T	c.(571-573)Cca>Tca	p.P191S	ASPM_ENST00000294732.7_Missense_Mutation_p.P191S	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	191					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GCTTGTAGTGGGCTCCTAACT	0.353																																						uc001gtu.2		NaN																	0				ovary(4)|central_nervous_system(2)	6						c.(571-573)CCA>TCA		asp (abnormal spindle)-like, microcephaly							57.0	60.0	59.0					1																	197112811		2203	4299	6502	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197112811G>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.571C>T	1.37:g.197112811G>A	ENSP00000356379:p.Pro191Ser					ASPM_uc001gtv.2_Missense_Mutation_p.P191S|ASPM_uc001gtw.3_Intron	p.P191S	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			3	828	-			191					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.571C>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.033324	0.75504	.	.	ENSG00000066279	ENST00000367409;ENST00000294732	T;T	0.71103	-0.54;0.84	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000004	D	0.84547	0.5496	M	0.72118	2.19	0.53688	D	0.999973	D;B	0.89917	1.0;0.008	D;B	0.91635	0.999;0.003	D	0.84811	0.0790	10	0.72032	D	0.01	.	20.1998	0.98258	0.0:0.0:1.0:0.0	.	191;191	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	S	191	ENSP00000356379:P191S;ENSP00000294732:P191S	ENSP00000294732:P191S	P	-	1	0	ASPM	195379434	1.000000	0.71417	1.000000	0.80357	0.615000	0.37417	7.143000	0.77348	2.848000	0.98002	0.637000	0.83480	CCA		0.353	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1		NM_018136		85	14	0	0	0	0.01441	0	85	14		
PIK3C2B	5287	broad.mit.edu	37	1	204412707	204412707	+	Silent	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:204412707G>A	ENST00000367187.3	-	20	3442	c.2886C>T	c.(2884-2886)ctC>ctT	p.L962L	PIK3C2B_ENST00000424712.2_Silent_p.L934L	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	962	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|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)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GAGAGTCCTTGAGGCCGTCCT	0.587																																						uc001haw.2		NaN																	0				lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7						c.(2884-2886)CTC>CTT		phosphoinositide-3-kinase, class 2 beta							110.0	108.0	109.0					1																	204412707		2203	4300	6503	SO:0001819	synonymous_variant	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204412707G>A	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.2886C>T	1.37:g.204412707G>A						PIK3C2B_uc010pqv.1_Silent_p.L934L	p.L962L	NM_002646	NP_002637	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		20	3365	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		962					O95666|Q5SW99	Silent	SNP	ENST00000367187.3	37	c.2886C>T	CCDS1446.1																																																																																				0.587	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1		NM_002646		151	24	0	0	0	0.01441	0	151	24		
LYST	1130	broad.mit.edu	37	1	235973787	235973787	+	Missense_Mutation	SNP	T	T	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:235973787T>A	ENST00000389794.3	-	5	505	c.331A>T	c.(331-333)Aac>Tac	p.N111Y	LYST_ENST00000389793.2_Missense_Mutation_p.N111Y|LYST_ENST00000536965.1_Missense_Mutation_p.N111Y			Q99698	LYST_HUMAN	lysosomal trafficking regulator	111					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GAACTTGAGTTCTTTTCTTTG	0.348																																						uc001hxj.2		NaN																	0				ovary(6)|breast(4)|central_nervous_system(2)	12						c.(331-333)AAC>TAC		lysosomal trafficking regulator							52.0	55.0	54.0					1																	235973787		2203	4300	6503	SO:0001583	missense	1130	Chediak-Higashi_syndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235973787T>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.331A>T	1.37:g.235973787T>A	ENSP00000374444:p.Asn111Tyr					LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.N111Y	p.N111Y	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		5	506	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	111					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.331A>T	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	T	16.74	3.205929	0.58234	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.62639	0.01;0.01;1.15	5.8	3.41	0.39046	.	0.148799	0.64402	D	0.000017	T	0.69214	0.3086	L	0.57536	1.79	0.33099	D	0.539016	D;P	0.55385	0.971;0.712	P;B	0.59288	0.855;0.429	T	0.76063	-0.3096	10	0.72032	D	0.01	.	9.208	0.37300	0.1228:0.0:0.129:0.7482	.	111;111	Q99698-3;Q99698	.;LYST_HUMAN	Y	111	ENSP00000374444:N111Y;ENSP00000374443:N111Y;ENSP00000438315:N111Y	ENSP00000374443:N111Y	N	-	1	0	LYST	234040410	1.000000	0.71417	0.996000	0.52242	0.919000	0.55068	3.546000	0.53656	0.429000	0.26202	0.460000	0.39030	AAC		0.348	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5				33	9	0	0	0	0.012213	0	33	9		
TRIM58	25893	broad.mit.edu	37	1	248028105	248028105	+	Silent	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:248028105G>A	ENST00000366481.3	+	3	663	c.615G>A	c.(613-615)gaG>gaA	p.E205E		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	205						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGCGGCTGGAGGCGGAGGAGC	0.622																																						uc001ido.2		NaN																	0				skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7						c.(613-615)GAG>GAA		tripartite motif-containing 58							45.0	41.0	42.0					1																	248028105		2203	4300	6503	SO:0001819	synonymous_variant	25893					intracellular	zinc ion binding	g.chr1:248028105G>A	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.615G>A	1.37:g.248028105G>A							p.E205E	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	663	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	205			Potential.		Q6B0H9	Silent	SNP	ENST00000366481.3	37	c.615G>A	CCDS1636.1																																																																																				0.622	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1		NM_015431		42	8	0	0	0	0.010771	0	42	8		
RSU1	6251	broad.mit.edu	37	10	16824066	16824066	+	Missense_Mutation	SNP	T	T	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr10:16824066T>C	ENST00000377921.3	-	2	428	c.127A>G	c.(127-129)Aca>Gca	p.T43A	RSU1_ENST00000464074.2_Intron|RSU1_ENST00000602389.1_5'UTR|RSU1_ENST00000345264.5_Missense_Mutation_p.T43A			Q15404	RSU1_HUMAN	Ras suppressor protein 1	43					cell junction assembly (GO:0034329)|positive regulation of neural precursor cell proliferation (GO:2000179)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(1;7.54e-08)		ACCAGTTGTGTGATATGGGAT	0.373																																						uc001iok.2		NaN																	0				central_nervous_system(1)	1						c.(127-129)ACA>GCA		ras suppressor protein 1 isoform 2							155.0	148.0	150.0					10																	16824066		2203	4300	6503	SO:0001583	missense	6251				cell junction assembly|signal transduction	cytosol	protein binding	g.chr10:16824066T>C	AK055596	CCDS7112.1, CCDS31157.1	10p13	2012-09-20			ENSG00000148484	ENSG00000148484			10464	protein-coding gene	gene with protein product		179555				8288261	Standard	NM_152724		Approved	RSP-1, FLJ31034	uc001iol.3	Q15404	OTTHUMG00000017740	ENST00000377921.3:c.127A>G	10.37:g.16824066T>C	ENSP00000367154:p.Thr43Ala					RSU1_uc001iol.2_Missense_Mutation_p.T43A|RSU1_uc001iom.2_5'UTR|RSU1_uc001ion.2_Missense_Mutation_p.T43A	p.T43A	NM_152724	NP_689937	Q15404	RSU1_HUMAN		GBM - Glioblastoma multiforme(1;7.54e-08)	2	429	-			43			LRR 1.		A8KA46|D3DRU3|Q6FI17	Missense_Mutation	SNP	ENST00000377921.3	37	c.127A>G	CCDS7112.1	.	.	.	.	.	.	.	.	.	.	T	18.64	3.667434	0.67814	.	.	ENSG00000148484	ENST00000345264;ENST00000377921	T;T	0.54279	0.58;0.58	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.46795	0.1411	L	0.46567	1.45	0.58432	D	0.999999	P;P	0.41420	0.517;0.749	B;B	0.42462	0.222;0.388	T	0.34403	-0.9830	10	0.15952	T	0.53	-4.4249	12.6646	0.56835	0.0:0.0:0.0:1.0	.	43;43	B0YJ73;Q15404	.;RSU1_HUMAN	A	43	ENSP00000339521:T43A;ENSP00000367154:T43A	ENSP00000339521:T43A	T	-	1	0	RSU1	16864072	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.749000	0.68704	2.083000	0.62718	0.533000	0.62120	ACA		0.373	RSU1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047006.1		NM_012425, NM_152724		8	35	0	0	0	0.004482	0	8	35		
ANKRD30A	91074	broad.mit.edu	37	10	37486374	37486374	+	Silent	SNP	C	C	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr10:37486374C>A	ENST00000602533.1	+	29	2613	c.2514C>A	c.(2512-2514)gcC>gcA	p.A838A	ANKRD30A_ENST00000374660.1_Silent_p.A957A|ANKRD30A_ENST00000361713.1_Silent_p.A838A			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	894					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CAAATAAAGCCTTGGAATTGA	0.318																																						uc001iza.1		NaN																	0				ovary(7)|breast(1)|skin(1)	9						c.(2512-2514)GCC>GCA		ankyrin repeat domain 30A							94.0	85.0	88.0					10																	37486374		1804	4070	5874	SO:0001819	synonymous_variant	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37486374C>A	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.2514C>A	10.37:g.37486374C>A							p.A838A	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			29	2613	+			894					Q5W025	Silent	SNP	ENST00000602533.1	37	c.2514C>A																																																																																					0.318	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2		NM_052997		28	34	1	0	6.97489e-18	0.004878	7.75984e-18	28	34		
CHAT	1103	broad.mit.edu	37	10	50872873	50872873	+	Silent	SNP	T	T	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr10:50872873T>C	ENST00000337653.2	+	15	2181	c.2028T>C	c.(2026-2028)aaT>aaC	p.N676N	CHAT_ENST00000395559.2_Silent_p.N558N|CHAT_ENST00000455728.2_Intron|CHAT_ENST00000339797.1_Silent_p.N558N|CHAT_ENST00000351556.3_Silent_p.N558N|CHAT_ENST00000395562.2_Silent_p.N594N	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	676					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	TGGTCCCAAATGGGTATGGTG	0.537																																						uc001jhz.2		NaN																	0				central_nervous_system(3)	3						c.(2026-2028)AAT>AAC		choline acetyltransferase isoform 2	Choline(DB00122)						203.0	193.0	196.0					10																	50872873		2203	4300	6503	SO:0001819	synonymous_variant	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50872873T>C	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.2028T>C	10.37:g.50872873T>C						CHAT_uc001jhv.1_Silent_p.N558N|CHAT_uc001jhx.1_Silent_p.N558N|CHAT_uc001jhy.1_Silent_p.N558N|CHAT_uc001jia.2_Silent_p.N558N|CHAT_uc010qgs.1_Intron	p.N676N	NM_020549	NP_065574	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	15	2181	+		all_neural(218;0.107)	676					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Silent	SNP	ENST00000337653.2	37	c.2028T>C	CCDS7232.1																																																																																				0.537	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1		NM_020549		48	137	0	0	0	0.01441	0	48	137		
ZSWIM8	23053	broad.mit.edu	37	10	75545836	75545836	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr10:75545836G>A	ENST00000605216.1	+	1	417	c.200G>A	c.(199-201)aGa>aAa	p.R67K	ZSWIM8_ENST00000604524.1_Missense_Mutation_p.R67K|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.R67K|ZSWIM8_ENST00000604729.1_Missense_Mutation_p.R67K|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.R67K	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	67							zinc ion binding (GO:0008270)										GGCGGTACCAGAATGCGAGGT	0.692																																						uc009xrl.2		NaN																	0				breast(1)	1						c.(199-201)AGA>AAA		hypothetical protein LOC23053							16.0	23.0	21.0					10																	75545836		1981	4149	6130	SO:0001583	missense	23053						zinc ion binding	g.chr10:75545836G>A	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.200G>A	10.37:g.75545836G>A	ENSP00000474748:p.Arg67Lys					KIAA0913_uc009xrk.1_3'UTR|KIAA0913_uc001jve.2_Missense_Mutation_p.R67K|KIAA0913_uc001jvf.2_Missense_Mutation_p.R67K|uc009xrm.1_5'Flank	p.R67K	NM_015037	NP_055852	A7E2V4	K0913_HUMAN			1	232	+	Prostate(51;0.0112)		67					B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	ENST00000605216.1	37	c.200G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.81|14.81	2.646804|2.646804	0.47258|0.47258	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000446546|ENST00000398706	.|T	.|0.39787	.|1.06	4.47|4.47	4.47|4.47	0.54385|0.54385	.|.	.|.	.|.	.|.	.|.	T|T	0.27731|0.27731	0.0682|0.0682	N|N	0.22421|0.22421	0.69|0.69	0.28718|0.28718	N|N	0.903189|0.903189	.|B;B;B	.|0.09022	.|0.002;0.002;0.002	.|B;B;B	.|0.06405	.|0.002;0.002;0.002	T|T	0.06991|0.06991	-1.0796|-1.0796	5|9	.|0.07030	.|T	.|0.85	.|.	14.4498|14.4498	0.67376|0.67376	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|67;67;67	.|A7E2V4;A7E2V4-5;A7E2V4-4	.|K0913_HUMAN;.;.	K|K	152|67	.|ENSP00000381693:R67K	.|ENSP00000381693:R67K	E|R	+|+	1|2	0|0	KIAA0913|KIAA0913	75215842|75215842	0.970000|0.970000	0.33590|0.33590	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	3.444000|3.444000	0.52914|0.52914	2.327000|2.327000	0.79052|0.79052	0.555000|0.555000	0.69702|0.69702	GAA|AGA		0.692	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1		NM_001242487		3	10	0	0	0	0.004672	0	3	10		
CEP55	55165	broad.mit.edu	37	10	95287764	95287764	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr10:95287764G>A	ENST00000371485.3	+	9	1553	c.1249G>A	c.(1249-1251)Gaa>Aaa	p.E417K		NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	417	Required for localization to the interphase centrosome and to the midbody during cytokinesis.				establishment of protein localization (GO:0045184)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|midbody (GO:0030496)				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				AGGAGAGACTGAAAACAGAGA	0.418																																						uc009xug.2		NaN																	0					0						c.(1249-1251)GAA>AAA		centrosomal protein 55kDa							80.0	81.0	81.0					10																	95287764		2203	4300	6503	SO:0001583	missense	55165				cell division|mitosis	centriole|cleavage furrow|midbody		g.chr10:95287764G>A	AK001402	CCDS7428.1	10q24.1	2014-02-20	2005-12-01	2005-12-01	ENSG00000138180	ENSG00000138180			1161	protein-coding gene	gene with protein product	"""cancer/testis antigen 111"""	610000	"""chromosome 10 open reading frame 3"""	C10orf3		16198290	Standard	NM_018131		Approved	FLJ10540, CT111	uc009xug.3	Q53EZ4	OTTHUMG00000018774	ENST00000371485.3:c.1249G>A	10.37:g.95287764G>A	ENSP00000360540:p.Glu417Lys					CEP55_uc001kiq.3_Missense_Mutation_p.E417K	p.E417K	NM_001127182	NP_001120654	Q53EZ4	CEP55_HUMAN			9	1431	+		Colorectal(252;0.207)	417			Required for localization to the interphase centrosome and to the midbody during cytokinesis.		B2RDG8|Q32WF5|Q3MV20|Q5VY28|Q6N034|Q96H32|Q9NVS7	Missense_Mutation	SNP	ENST00000371485.3	37	c.1249G>A	CCDS7428.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.482273	0.44147	.	.	ENSG00000138180	ENST00000371485	T	0.19532	2.14	6.04	6.04	0.98038	.	0.936403	0.09247	N	0.828394	T	0.19005	0.0456	L	0.38175	1.15	0.42555	D	0.993128	P	0.38922	0.651	B	0.30943	0.122	T	0.08973	-1.0696	10	0.46703	T	0.11	-16.7355	14.7989	0.69898	0.0:0.1436:0.8564:0.0	.	417	Q53EZ4	CEP55_HUMAN	K	417	ENSP00000360540:E417K	ENSP00000360540:E417K	E	+	1	0	CEP55	95277754	1.000000	0.71417	1.000000	0.80357	0.707000	0.40811	3.295000	0.51794	2.873000	0.98535	0.561000	0.74099	GAA		0.418	CEP55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049434.1		NM_018131		12	26	0	0	0	0.001855	0	12	26		
ZNF518A	9849	broad.mit.edu	37	10	97920088	97920088	+	RNA	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr10:97920088C>T	ENST00000534948.1	+	0	4866							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		TTCTAAACAGCTTGTGAAATG	0.378																																						uc001klp.2		NaN																	0				ovary(1)	1						c.(4009-4011)CTT>TTT		zinc finger protein 518							81.0	79.0	80.0					10																	97920088		1840	4081	5921			9849				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:97920088C>T	AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"""Zinc fingers, C2H2-type"""	29009	protein-coding gene	gene with protein product			"""zinc finger protein 518"""	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97920088C>T						ZNF518A_uc001klo.1_Missense_Mutation_p.L807F|ZNF518A_uc001klq.2_Missense_Mutation_p.L1337F|ZNF518A_uc001klr.2_Missense_Mutation_p.L1337F	p.L1337F	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)	6	4866	+		Colorectal(252;0.0815)	1337					A0PJI5|O15044|Q32MP4	Missense_Mutation	SNP	ENST00000534948.1	37	c.4009C>T																																																																																					0.378	ZNF518A-202	KNOWN	basic	processed_transcript	processed_transcript			NM_014803		5	15	0	0	0	0.000602	0	5	15		
SLIT1	6585	broad.mit.edu	37	10	98794286	98794286	+	Missense_Mutation	SNP	T	T	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr10:98794286T>G	ENST00000266058.4	-	23	2625	c.2380A>C	c.(2380-2382)Aac>Cac	p.N794H	SLIT1_ENST00000371070.4_Missense_Mutation_p.N794H|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	794					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CTGATCTTGTTGTTGCTCAGG	0.562																																						uc001kmw.2		NaN																	0				ovary(4)	4						c.(2380-2382)AAC>CAC		slit homolog 1 precursor							144.0	124.0	131.0					10																	98794286		2203	4300	6503	SO:0001583	missense	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98794286T>G	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.2380A>C	10.37:g.98794286T>G	ENSP00000266058:p.Asn794His					SLIT1_uc009xvh.1_Intron	p.N794H	NM_003061	NP_003052	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	23	2632	-		Colorectal(252;0.162)	794			LRR 18.		Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	c.2380A>C	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	t	16.75	3.209014	0.58343	.	.	ENSG00000187122	ENST00000266058;ENST00000371070	T;T	0.74526	-0.85;-0.85	3.89	3.89	0.44902	.	0.000000	0.85682	D	0.000000	D	0.92044	0.7479	H	0.99758	4.755	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94661	0.7848	10	0.87932	D	0	.	12.9459	0.58371	0.0:0.0:0.0:1.0	.	794	O75093	SLIT1_HUMAN	H	794	ENSP00000266058:N794H;ENSP00000360109:N794H	ENSP00000266058:N794H	N	-	1	0	SLIT1	98784276	1.000000	0.71417	1.000000	0.80357	0.664000	0.39144	7.512000	0.81728	1.635000	0.50512	0.439000	0.28862	AAC		0.562	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1		NM_003061		29	37	0	0	0	0.008361	0	29	37		
CHUK	1147	broad.mit.edu	37	10	101977825	101977825	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr10:101977825C>G	ENST00000370397.7	-	9	946	c.860G>C	c.(859-861)aGa>aCa	p.R287T		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	287	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anatomical structure morphogenesis (GO:0009653)|cellular response to tumor necrosis factor (GO:0071356)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|morphogenesis of an epithelial sheet (GO:0002011)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hydroperoxide (GO:0033194)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)|skeletal muscle contraction (GO:0003009)|striated muscle cell differentiation (GO:0051146)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|scaffold protein binding (GO:0097110)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	AGGTCCTCCTCTCTGCTGAGG	0.373																																					Ovarian(159;52 1904 10536 35305 37148)	uc001kqp.2		NaN																	0				ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|breast(1)	7						c.(859-861)AGA>ACA		conserved helix-loop-helix ubiquitous kinase							103.0	91.0	95.0					10																	101977825		2203	4300	6503	SO:0001583	missense	1147				I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity	g.chr10:101977825C>G	AF009225	CCDS7488.1	10q24-q25	2008-08-01			ENSG00000213341	ENSG00000213341			1974	protein-coding gene	gene with protein product		600664		TCF16		7558004, 16902410	Standard	XR_246062		Approved	IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA	uc001kqp.3	O15111	OTTHUMG00000018899	ENST00000370397.7:c.860G>C	10.37:g.101977825C>G	ENSP00000359424:p.Arg287Thr						p.R287T	NM_001278	NP_001269	O15111	IKKA_HUMAN		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	9	915	-		Colorectal(252;0.117)	287			Protein kinase.		O14666|Q13132|Q5W0I4|Q92467	Missense_Mutation	SNP	ENST00000370397.7	37	c.860G>C	CCDS7488.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.872386	0.91587	.	.	ENSG00000213341	ENST00000370397	T	0.71934	-0.61	6.05	6.05	0.98169	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.89684	0.6786	H	0.96430	3.82	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92074	0.5667	10	0.87932	D	0	-20.4426	18.0951	0.89487	0.0:1.0:0.0:0.0	.	287	O15111	IKKA_HUMAN	T	287	ENSP00000359424:R287T	ENSP00000359424:R287T	R	-	2	0	CHUK	101967815	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.484000	0.81180	2.878000	0.98634	0.650000	0.86243	AGA		0.373	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049836.1		NM_001278		12	7	0	0	0	0.010729	0	12	7		
NFKB2	4791	broad.mit.edu	37	10	104157318	104157318	+	Silent	SNP	A	A	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr10:104157318A>G	ENST00000369966.3	+	8	787	c.537A>G	c.(535-537)aaA>aaG	p.K179K	NFKB2_ENST00000428099.1_Silent_p.K179K|NFKB2_ENST00000189444.6_Silent_p.K179K	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	179	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|spleen development (GO:0048536)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	Acetylsalicylic acid(DB00945)|Glucosamine(DB01296)	AAGAGGCCAAAGAACTGAAGA	0.592			T	IGH@	B-NHL																																	uc001kvb.2		NaN		Dom	yes		10	10q24	4791	T	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)			L	IGH@		B-NHL		0				lung(3)	3						c.(535-537)AAA>AAG		nuclear factor of kappa light polypeptide gene							156.0	188.0	177.0					10																	104157318		2119	4228	6347	SO:0001819	synonymous_variant	4791				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr10:104157318A>G	X61498	CCDS41564.1, CCDS41565.1	10q24	2013-01-10			ENSG00000077150	ENSG00000077150		"""Ankyrin repeat domain containing"""	7795	protein-coding gene	gene with protein product		164012				1876189	Standard	XM_005269860		Approved	LYT-10, p52, p105, NF-kB2	uc001kvb.4	Q00653	OTTHUMG00000018962	ENST00000369966.3:c.537A>G	10.37:g.104157318A>G						NFKB2_uc001kva.2_Silent_p.K179K|NFKB2_uc010qqk.1_Silent_p.K179K|NFKB2_uc001kvd.2_Silent_p.K179K|NFKB2_uc009xxc.2_Silent_p.K179K	p.K179K	NM_001077494	NP_001070962	Q00653	NFKB2_HUMAN		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	8	802	+		Colorectal(252;0.00957)	179			RHD.		A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Silent	SNP	ENST00000369966.3	37	c.537A>G	CCDS41564.1																																																																																				0.592	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2				38	65	0	0	0	0.004878	0	38	65		
ABLIM1	3983	broad.mit.edu	37	10	116247730	116247730	+	Missense_Mutation	SNP	T	T	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr10:116247730T>A	ENST00000277895.5	-	8	1125	c.1028A>T	c.(1027-1029)gAg>gTg	p.E343V	ABLIM1_ENST00000369253.2_Missense_Mutation_p.E27V|ABLIM1_ENST00000392952.3_Missense_Mutation_p.E27V|ABLIM1_ENST00000533213.2_Missense_Mutation_p.E283V|ABLIM1_ENST00000369252.4_Missense_Mutation_p.E283V|ABLIM1_ENST00000369266.3_Missense_Mutation_p.E27V	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	343	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		CAGCTTTTCCTCGGTCTTCGT	0.478																																						uc010qsg.1		NaN																	0				breast(1)	1						c.(1027-1029)GAG>GTG		actin-binding LIM protein 1 isoform a							285.0	253.0	264.0					10																	116247730		2203	4300	6503	SO:0001583	missense	3983				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding	g.chr10:116247730T>A	AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.1028A>T	10.37:g.116247730T>A	ENSP00000277895:p.Glu343Val					ABLIM1_uc010qsh.1_Missense_Mutation_p.E283V|ABLIM1_uc010qsi.1_Missense_Mutation_p.E283V|ABLIM1_uc010qsk.1_Missense_Mutation_p.E267V|ABLIM1_uc009xyp.2_Missense_Mutation_p.E277V|ABLIM1_uc010qsf.1_Missense_Mutation_p.E27V|ABLIM1_uc009xyn.2_Missense_Mutation_p.E20V|ABLIM1_uc010qsj.1_Missense_Mutation_p.E20V|ABLIM1_uc009xyo.2_Missense_Mutation_p.E191V	p.E343V	NM_002313	NP_002304	O14639	ABLM1_HUMAN		Epithelial(162;0.0132)|all cancers(201;0.0383)	8	1127	-		Colorectal(252;0.0373)|Breast(234;0.231)	343			LIM zinc-binding 4.		A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Missense_Mutation	SNP	ENST00000277895.5	37	c.1028A>T	CCDS7590.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.09|19.09	3.759945|3.759945	0.69763|0.69763	.|.	.|.	ENSG00000099204|ENSG00000099204	ENST00000336585;ENST00000369252;ENST00000392952;ENST00000369257;ENST00000369267;ENST00000533213;ENST00000369262;ENST00000369263;ENST00000369266;ENST00000369256;ENST00000369260;ENST00000277895;ENST00000369253;ENST00000440467;ENST00000428430|ENST00000392955	T;T;T;T;T;T;T;T|.	0.56776|.	1.46;0.99;1.46;1.0;1.43;1.29;0.44;0.49|.	5.81|5.81	5.81|5.81	0.92471|0.92471	Zinc finger, LIM-type (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76955|0.76955	0.4060|0.4060	M|M	0.82517|0.82517	2.595|2.595	0.53688|0.53688	D|D	0.999972|0.999972	D;D;D;D;D;D;D;D;D|.	0.89917|.	0.997;0.999;0.971;0.985;0.992;1.0;0.999;0.992;0.997|.	D;D;P;P;P;D;D;P;D|.	0.91635|.	0.926;0.974;0.837;0.824;0.861;0.999;0.942;0.861;0.979|.	T|T	0.79006|0.79006	-0.1979|-0.1979	10|5	0.87932|.	D|.	0|.	.|.	13.6931|13.6931	0.62559|0.62559	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	267;27;283;283;343;27;283;267;27|.	B7Z4H1;B4DQA3;F8W8M4;A6NKJ2;O14639;O14639-5;B3KVH2;C9K0X4;O14639-4|.	.;.;.;.;ABLM1_HUMAN;.;.;.;.|.	V|W	343;283;27;27;283;283;343;267;27;267;267;343;27;8;27|252	ENSP00000358256:E283V;ENSP00000376679:E27V;ENSP00000433629:E283V;ENSP00000358270:E27V;ENSP00000277895:E343V;ENSP00000358257:E27V;ENSP00000414154:E8V;ENSP00000400934:E27V|.	ENSP00000277895:E343V|.	E|R	-|-	2|1	0|2	ABLIM1|ABLIM1	116237720|116237720	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.355000|0.355000	0.29361|0.29361	5.683000|5.683000	0.68189|0.68189	2.217000|2.217000	0.71921|0.71921	0.533000|0.533000	0.62120|0.62120	GAG|AGG		0.478	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3				23	60	0	0	0	0.00333	0	23	60		
PNLIP	5406	broad.mit.edu	37	10	118305637	118305637	+	Silent	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr10:118305637G>A	ENST00000369221.2	+	2	61	c.33G>A	c.(31-33)ctG>ctA	p.L11L	PNLIP_ENST00000470562.1_3'UTR	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	11					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	CACTGCTGCTGGGAGCAGTAG	0.433																																						uc001lcm.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(31-33)CTG>CTA		pancreatic lipase precursor	Bentiromide(DB00522)|Orlistat(DB01083)						112.0	106.0	108.0					10																	118305637		2203	4300	6503	SO:0001819	synonymous_variant	5406				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	g.chr10:118305637G>A	BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.33G>A	10.37:g.118305637G>A							p.L11L	NM_000936	NP_000927	P16233	LIPP_HUMAN		all cancers(201;0.0131)	2	76	+			11					Q5VSQ2	Silent	SNP	ENST00000369221.2	37	c.33G>A	CCDS7594.1																																																																																				0.433	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1		NM_000936		13	25	0	0	0	0.001855	0	13	25		
WDR11	55717	broad.mit.edu	37	10	122624668	122624668	+	Missense_Mutation	SNP	G	G	C	rs145467317		TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr10:122624668G>C	ENST00000263461.6	+	6	1069	c.823G>C	c.(823-825)Gtg>Ctg	p.V275L		NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)	p.V275L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						TGACCTTGAGGTGAATCAGAC	0.378																																						uc010qtf.1		NaN																	1	Substitution - Missense(1)		kidney(1)		0						c.(823-825)GTG>CTG		bromodomain and WD repeat domain containing 2							141.0	136.0	138.0					10																	122624668		2203	4300	6503	SO:0001583	missense	55717					integral to membrane		g.chr10:122624668G>C	AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"""WD repeat domain containing"""	13831	protein-coding gene	gene with protein product		606417	"""bromodomain and WD repeat domain containing 2"""	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.823G>C	10.37:g.122624668G>C	ENSP00000263461:p.Val275Leu					WDR11_uc010qte.1_Intron|WDR11_uc001lfd.1_5'UTR	p.V275L	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN			6	1061	+			275					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000263461.6	37	c.823G>C	CCDS7619.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.093433	0.56075	.	.	ENSG00000120008	ENST00000263461	D	0.89552	-2.53	5.96	5.96	0.96718	WD40 repeat-like-containing domain (1);	0.052030	0.85682	D	0.000000	T	0.81427	0.4820	N	0.12182	0.205	0.53688	D	0.999976	B	0.14012	0.009	B	0.14578	0.011	T	0.74003	-0.3804	10	0.21540	T	0.41	-21.974	20.422	0.99049	0.0:0.0:1.0:0.0	.	275	Q9BZH6	WDR11_HUMAN	L	275	ENSP00000263461:V275L	ENSP00000263461:V275L	V	+	1	0	WDR11	122614658	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.912000	0.75753	2.832000	0.97577	0.655000	0.94253	GTG		0.378	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2				19	28	0	0	0	0.006122	0	19	28		
DMBT1	1755	broad.mit.edu	37	10	124399605	124399605	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr10:124399605C>T	ENST00000338354.3	+	52	6711	c.6605C>T	c.(6604-6606)tCa>tTa	p.S2202L	DMBT1_ENST00000359586.6_Missense_Mutation_p.S922L|DMBT1_ENST00000368955.3_Missense_Mutation_p.S2192L|DMBT1_ENST00000344338.3_Missense_Mutation_p.S2192L|DMBT1_ENST00000368956.2_Missense_Mutation_p.S1574L|DMBT1_ENST00000330163.4_Missense_Mutation_p.S1574L|DMBT1_ENST00000368909.3_Missense_Mutation_p.S2202L			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2202	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCAGCTGTCTCAGGTGGCATC	0.522																																					Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1		NaN																	0				central_nervous_system(7)	7						c.(6604-6606)TCA>TTA		deleted in malignant brain tumors 1 isoform b							108.0	102.0	104.0					10																	124399605		2105	4232	6337	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124399605C>T		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.6605C>T	10.37:g.124399605C>T	ENSP00000342210:p.Ser2202Leu					DMBT1_uc001lgl.1_Missense_Mutation_p.S2192L|DMBT1_uc001lgm.1_Missense_Mutation_p.S1574L|DMBT1_uc009xzz.1_Missense_Mutation_p.S2201L|DMBT1_uc010qtx.1_Missense_Mutation_p.S922L|DMBT1_uc009yab.1_Missense_Mutation_p.S905L|DMBT1_uc009yac.1_Missense_Mutation_p.S496L	p.S2202L	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			52	6711	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	2202			ZP.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.6605C>T		.	.	.	.	.	.	.	.	.	.	C	10.33	1.319346	0.23994	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	D;D;D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67	5.63	4.69	0.59074	Zona pellucida sperm-binding protein (3);	.	.	.	.	D	0.88198	0.6372	M	0.70275	2.135	0.09310	N	1	D;P;D;D;D;D;D	0.58268	0.96;0.639;0.96;0.977;0.977;0.977;0.982	P;B;P;P;P;P;P	0.56960	0.711;0.168;0.643;0.711;0.711;0.711;0.81	T	0.80919	-0.1167	9	0.66056	D	0.02	.	13.6663	0.62398	0.2779:0.7221:0.0:0.0	.	922;2182;1451;2331;1574;2192;2202	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	L	2202;2331;2202;2202;2202;2201;1574;2192;1574;1574;2202;2192;1574;348;922	ENSP00000342210:S2202L;ENSP00000343175:S2192L;ENSP00000327747:S1574L;ENSP00000357905:S2202L;ENSP00000357951:S2192L;ENSP00000357952:S1574L;ENSP00000352593:S922L	ENSP00000331522:S1574L	S	+	2	0	DMBT1	124389595	0.349000	0.24870	0.070000	0.20053	0.017000	0.09413	4.453000	0.60061	2.652000	0.90054	0.655000	0.94253	TCA		0.522	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2		NM_004406		31	30	0	0	0	0.008361	0	31	30		
PKP3	11187	broad.mit.edu	37	11	404268	404268	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr11:404268C>T	ENST00000331563.2	+	12	2379	c.2303C>T	c.(2302-2304)tCc>tTc	p.S768F		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	768					desmosome assembly (GO:0002159)|establishment of protein localization to plasma membrane (GO:0090002)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|desmosome (GO:0030057)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGGGCAGCATCCAGCCTCCTG	0.662																																						uc001lpc.2		NaN																	0				skin(1)	1						c.(2302-2304)TCC>TTC		plakophilin 3							72.0	69.0	70.0					11																	404268		2195	4288	6483	SO:0001583	missense	11187				cell adhesion	desmosome|nucleus	binding	g.chr11:404268C>T	Z98265	CCDS7695.1	11p15	2013-02-14			ENSG00000184363	ENSG00000184363		"""Armadillo repeat containing"""	9025	protein-coding gene	gene with protein product		605561				10374265	Standard	XM_005252760		Approved		uc001lpc.3	Q9Y446	OTTHUMG00000119068	ENST00000331563.2:c.2303C>T	11.37:g.404268C>T	ENSP00000331678:p.Ser768Phe						p.S768F	NM_007183	NP_009114	Q9Y446	PKP3_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	12	2379	+		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	768					F8J390|Q53EX8	Missense_Mutation	SNP	ENST00000331563.2	37	c.2303C>T	CCDS7695.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	15.83|15.83	2.948802|2.948802	0.53186|0.53186	.|.	.|.	ENSG00000184363|ENSG00000184363	ENST00000525642|ENST00000331563	.|T	.|0.49139	.|0.79	3.75|3.75	3.75|3.75	0.43078|0.43078	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.519101	.|0.17754	.|N	.|0.163140	T|T	0.49150|0.49150	0.1540|0.1540	M|M	0.67700|0.67700	2.07|2.07	0.39021|0.39021	D|D	0.959743|0.959743	.|D	.|0.56521	.|0.976	.|P	.|0.44732	.|0.459	T|T	0.61078|0.61078	-0.7135|-0.7135	5|10	.|0.72032	.|D	.|0.01	-23.8657|-23.8657	12.0958|12.0958	0.53755|0.53755	0.0:0.8264:0.1736:0.0|0.0:0.8264:0.1736:0.0	.|.	.|768	.|Q9Y446	.|PKP3_HUMAN	S|F	28|768	.|ENSP00000331678:S768F	.|ENSP00000331678:S768F	P|S	+|+	1|2	0|0	PKP3|PKP3	394268|394268	0.927000|0.927000	0.31430|0.31430	0.999000|0.999000	0.59377|0.59377	0.814000|0.814000	0.46013|0.46013	4.193000|4.193000	0.58385|0.58385	2.121000|2.121000	0.65114|0.65114	0.313000|0.313000	0.20887|0.20887	CCA|TCC		0.662	PKP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239281.1		NM_007183		27	55	0	0	0	0.008361	0	27	55		
TRAF6	7189	broad.mit.edu	37	11	36523047	36523047	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr11:36523047C>T	ENST00000526995.1	-	2	265	c.19G>A	c.(19-21)Gaa>Aaa	p.E7K	TRAF6_ENST00000348124.5_Missense_Mutation_p.E7K	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	7	Interaction with TAX1BP1.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of protein kinase activity (GO:0032147)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic signaling pathway (GO:0097190)|bone resorption (GO:0045453)|cell development (GO:0048468)|cellular response to lipopolysaccharide (GO:0071222)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein autoubiquitination (GO:0051865)|protein complex assembly (GO:0006461)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of immunoglobulin secretion (GO:0051023)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	histone deacetylase binding (GO:0042826)|ligase activity (GO:0016874)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				CAGCTGTTTTCACAGTTTAGC	0.448																																						uc001mwr.1		NaN																	0				ovary(1)	1						c.(19-21)GAA>AAA		TNF receptor-associated factor 6							58.0	49.0	52.0					11																	36523047		2202	4298	6500	SO:0001583	missense	7189				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36523047C>T		CCDS7901.1	11p12	2013-01-09	2012-02-23		ENSG00000175104	ENSG00000175104		"""RING-type (C3HC4) zinc fingers"""	12036	protein-coding gene	gene with protein product		602355	"""TNF receptor-associated factor 6"""			8837778	Standard	NM_004620		Approved	RNF85	uc001mws.2	Q9Y4K3	OTTHUMG00000166391	ENST00000526995.1:c.19G>A	11.37:g.36523047C>T	ENSP00000433623:p.Glu7Lys					TRAF6_uc001mws.1_Missense_Mutation_p.E7K	p.E7K	NM_145803	NP_665802	Q9Y4K3	TRAF6_HUMAN			3	359	-	all_lung(20;0.211)	all_hematologic(20;0.107)	7			Interaction with TAX1BP1.		A6NKI7|A8KAB3|D3DR16|Q8NEH5	Missense_Mutation	SNP	ENST00000526995.1	37	c.19G>A	CCDS7901.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.910901	0.52439	.	.	ENSG00000175104	ENST00000526995;ENST00000348124	D;D	0.82344	-1.6;-1.6	5.57	4.65	0.58169	.	0.439451	0.28262	N	0.015999	T	0.76140	0.3946	L	0.51422	1.61	0.30320	N	0.787673	B	0.26318	0.146	B	0.24974	0.057	T	0.73193	-0.4060	10	0.52906	T	0.07	-13.1452	6.663	0.23024	0.1483:0.7092:0.0:0.1425	.	7	Q9Y4K3	TRAF6_HUMAN	K	7	ENSP00000433623:E7K;ENSP00000337853:E7K	ENSP00000337853:E7K	E	-	1	0	TRAF6	36479623	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	1.383000	0.34385	1.346000	0.45694	0.467000	0.42956	GAA		0.448	TRAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389530.1		NM_145803		11	17	0	0	0	0.010729	0	11	17		
OR4A16	81327	broad.mit.edu	37	11	55110736	55110736	+	Missense_Mutation	SNP	T	T	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr11:55110736T>A	ENST00000314721.2	+	1	110	c.60T>A	c.(58-60)gaT>gaA	p.D20E		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						AAGATCCTGATGTGAAAAAAA	0.413																																						uc010rie.1		NaN																	0				large_intestine(2)|pancreas(1)	3						c.(58-60)GAT>GAA		olfactory receptor, family 4, subfamily A,							72.0	65.0	67.0					11																	55110736		2201	4296	6497	SO:0001583	missense	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55110736T>A	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.60T>A	11.37:g.55110736T>A	ENSP00000325128:p.Asp20Glu						p.D20E	NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN			1	60	+			20			Extracellular (Potential).		Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	c.60T>A	CCDS31499.1	.	.	.	.	.	.	.	.	.	.	t	0	-2.693263	0.00098	.	.	ENSG00000181961	ENST00000314721	T	0.00428	7.44	2.41	-4.82	0.03171	.	.	.	.	.	T	0.00109	0.0003	N	0.00885	-1.115	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30937	-0.9961	9	0.02654	T	1	.	6.506	0.22196	0.0:0.1343:0.2132:0.6525	.	20	Q8NH70	O4A16_HUMAN	E	20	ENSP00000325128:D20E	ENSP00000325128:D20E	D	+	3	2	OR4A16	54867312	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-1.819000	0.01716	-0.761000	0.04670	0.155000	0.16302	GAT		0.413	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1		NM_001005274		6	9	0	0	0	0.001168	0	6	9		
OR5L2	26338	broad.mit.edu	37	11	55595538	55595538	+	Missense_Mutation	SNP	A	A	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr11:55595538A>T	ENST00000378397.1	+	1	844	c.844A>T	c.(844-846)Att>Ttt	p.I282F		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CACAGTTGTGATTCCCATGCT	0.463										HNSCC(27;0.073)																												uc001nhy.1		NaN																	0				ovary(1)	1						c.(844-846)ATT>TTT		olfactory receptor, family 5, subfamily L,							68.0	65.0	66.0					11																	55595538		2200	4296	6496	SO:0001583	missense	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55595538A>T	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.844A>T	11.37:g.55595538A>T	ENSP00000367650:p.Ile282Phe	HNSCC(27;0.073)					p.I282F	NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN			1	844	+		all_epithelial(135;0.208)	282			Helical; Name=7; (Potential).		Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.844A>T	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	16.64	3.180605	0.57800	.	.	ENSG00000205030	ENST00000378397	T	0.37411	1.2	5.1	5.1	0.69264	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000067	T	0.62368	0.2422	M	0.87682	2.9	0.30362	N	0.783741	D	0.89917	1.0	D	0.97110	1.0	T	0.68112	-0.5495	10	0.72032	D	0.01	-50.3468	10.078	0.42373	0.8496:0.0:0.0:0.1504	.	282	Q8NGL0	OR5L2_HUMAN	F	282	ENSP00000367650:I282F	ENSP00000367650:I282F	I	+	1	0	OR5L2	55352114	0.000000	0.05858	0.999000	0.59377	0.725000	0.41563	0.327000	0.19663	2.061000	0.61500	0.439000	0.28862	ATT		0.463	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1		NM_001004739		8	9	0	0	0	0.006214	0	8	9		
OR8H1	219469	broad.mit.edu	37	11	56058390	56058390	+	Missense_Mutation	SNP	C	C	T	rs191885508		TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr11:56058390C>T	ENST00000313022.2	-	1	176	c.149G>A	c.(148-150)cGc>cAc	p.R50H		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GAGGTCCAGGCGGATTATCAA	0.423																																						uc010rje.1		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(148-150)CGC>CAC		olfactory receptor, family 8, subfamily H,							231.0	217.0	222.0					11																	56058390		2201	4296	6497	SO:0001583	missense	219469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56058390C>T	AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"""GPCR / Class A : Olfactory receptors"""	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.149G>A	11.37:g.56058390C>T	ENSP00000323595:p.Arg50His						p.R50H	NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN			1	149	-	Esophageal squamous(21;0.00448)		50			Cytoplasmic (Potential).		B2RNI7|Q6IFC5	Missense_Mutation	SNP	ENST00000313022.2	37	c.149G>A	CCDS31526.1	.	.	.	.	.	.	.	.	.	.	C	0.130	-1.115221	0.01799	.	.	ENSG00000181693	ENST00000313022;ENST00000395186	T	0.01076	5.37	3.98	-2.07	0.07276	GPCR, rhodopsin-like superfamily (1);	0.885812	0.09820	N	0.751571	T	0.00695	0.0023	N	0.16066	0.365	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.46884	-0.9159	10	0.15066	T	0.55	.	3.8073	0.08782	0.0936:0.4518:0.2438:0.2107	.	50	Q8NGG4	OR8H1_HUMAN	H	50;46	ENSP00000323595:R50H	ENSP00000323595:R50H	R	-	2	0	OR8H1	55814966	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.920000	0.00049	-0.437000	0.07243	-2.051000	0.00406	CGC		0.423	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1		NM_001005199		80	115	0	0	0	0.01441	0	80	115		
UBE2L6	9246	broad.mit.edu	37	11	57319864	57319864	+	Silent	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr11:57319864G>A	ENST00000287156.4	-	4	624	c.429C>T	c.(427-429)ttC>ttT	p.F143F	UBE2L6_ENST00000340573.4_Silent_p.F77F	NM_004223.4	NP_004214.1	O14933	UB2L6_HUMAN	ubiquitin-conjugating enzyme E2L 6	143					cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	ISG15 ligase activity (GO:0042296)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(3)|ovary(1)	5						ATCGGAGGGTGAACTCTTCGG	0.572																																						uc001nkn.1		NaN																	0				ovary(1)	1						c.(427-429)TTC>TTT		ubiquitin-conjugating enzyme E2L 6 isoform 1							160.0	153.0	155.0					11																	57319864		2201	4296	6497	SO:0001819	synonymous_variant	9246				negative regulation of type I interferon production	cytosol	protein binding|ubiquitin-protein ligase activity	g.chr11:57319864G>A	AF031141, AK093462, BC032491	CCDS7960.1, CCDS7961.1	11q12.1	2008-02-01			ENSG00000156587	ENSG00000156587		"""Ubiquitin-conjugating enzymes E2"""	12490	protein-coding gene	gene with protein product		603890				9153201	Standard	NM_004223		Approved	UBCH8	uc001nkn.2	O14933	OTTHUMG00000167047	ENST00000287156.4:c.429C>T	11.37:g.57319864G>A						UBE2L6_uc001nko.1_Silent_p.F77F	p.F143F	NM_004223	NP_004214	O14933	UB2L6_HUMAN			4	525	-			143					A6NDM6|A8MY53|Q8N5D8|Q9UEZ0	Silent	SNP	ENST00000287156.4	37	c.429C>T	CCDS7960.1																																																																																				0.572	UBE2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392657.1		NM_004223		71	99	0	0	0	0.01441	0	71	99		
SIPA1	6494	broad.mit.edu	37	11	65417623	65417623	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr11:65417623G>C	ENST00000394224.3	+	14	3159	c.2863G>C	c.(2863-2865)Gag>Cag	p.E955Q	SIPA1_ENST00000527525.1_Missense_Mutation_p.E853Q|SIPA1_ENST00000394227.3_Missense_Mutation_p.E853Q|SIPA1_ENST00000534313.1_Missense_Mutation_p.E955Q|MIR4489_ENST00000578869.1_RNA	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	955					cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						GCCCATCCCAGAGAGTGGAGA	0.607																																						uc001ofb.2		NaN																	0					0						c.(2863-2865)GAG>CAG		signal-induced proliferation-associated protein							91.0	92.0	92.0					11																	65417623		2201	4297	6498	SO:0001583	missense	6494				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity	g.chr11:65417623G>C	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.2863G>C	11.37:g.65417623G>C	ENSP00000377771:p.Glu955Gln					SIPA1_uc010rom.1_Missense_Mutation_p.E853Q|SIPA1_uc001ofd.2_Missense_Mutation_p.E955Q	p.E955Q	NM_006747	NP_006738	Q96FS4	SIPA1_HUMAN			14	3030	+			955					O14518|O60484|O60618|Q2YD83	Missense_Mutation	SNP	ENST00000394224.3	37	c.2863G>C	CCDS8108.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.959850	0.53400	.	.	ENSG00000213445	ENST00000534313;ENST00000527525;ENST00000394224;ENST00000394227	D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81	3.98	3.98	0.46160	.	0.641843	0.12931	U	0.427349	D	0.85982	0.5824	L	0.27053	0.805	0.28517	N	0.913272	D;D	0.67145	0.996;0.963	D;P	0.75484	0.986;0.628	T	0.77000	-0.2750	10	0.24483	T	0.36	-18.0336	11.5877	0.50929	0.0:0.0:1.0:0.0	.	853;955	F6RY50;Q96FS4	.;SIPA1_HUMAN	Q	955;853;955;853	ENSP00000436269:E955Q;ENSP00000433686:E853Q;ENSP00000377771:E955Q;ENSP00000377774:E853Q	ENSP00000377771:E955Q	E	+	1	0	SIPA1	65174199	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	3.601000	0.54059	1.783000	0.52377	0.313000	0.20887	GAG		0.607	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1		NM_006747		43	76	0	0	0	0.01441	0	43	76		
MTL5	9633	broad.mit.edu	37	11	68517984	68517984	+	Missense_Mutation	SNP	A	A	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr11:68517984A>T	ENST00000255087.5	-	2	328	c.145T>A	c.(145-147)Ttc>Atc	p.F49I	MTL5_ENST00000544963.1_Missense_Mutation_p.F49I|MTL5_ENST00000540869.1_5'Flank|MTL5_ENST00000443940.2_Missense_Mutation_p.F49I	NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	49					cell differentiation (GO:0030154)|cellular metal ion homeostasis (GO:0006875)|multicellular organismal development (GO:0007275)|response to metal ion (GO:0010038)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			GCTTCTTTGAAGACGTGGAAC	0.647																																						uc001ooc.2		NaN																	0				ovary(2)|breast(1)	3						c.(145-147)TTC>ATC		metallothionein-like 5, testis-specific isoform							25.0	20.0	22.0					11																	68517984		2194	4292	6486	SO:0001583	missense	9633				cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding	g.chr11:68517984A>T	U86074	CCDS8184.1, CCDS44661.1	11q13.2-q13.3	2007-01-03			ENSG00000132749	ENSG00000132749			7446	protein-coding gene	gene with protein product	"""CXC domain containing 2"""	604374				1091092	Standard	XR_428932		Approved	CXCDC2	uc001ooc.3	Q9Y4I5	OTTHUMG00000167891	ENST00000255087.5:c.145T>A	11.37:g.68517984A>T	ENSP00000255087:p.Phe49Ile					MTL5_uc001ood.1_Missense_Mutation_p.F49I|MTL5_uc009ysi.1_Missense_Mutation_p.F49I|MTL5_uc001ooe.2_Missense_Mutation_p.F49I	p.F49I	NM_004923	NP_004914	Q9Y4I5	MTL5_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)		2	285	-	Esophageal squamous(3;4.37e-12)		49					A8K8J3|Q4G182|Q6P2E2|Q8NCC8	Missense_Mutation	SNP	ENST00000255087.5	37	c.145T>A	CCDS8184.1	.	.	.	.	.	.	.	.	.	.	a	13.94	2.386641	0.42308	.	.	ENSG00000132749	ENST00000255087;ENST00000443940;ENST00000544963	T;T;T	0.50548	1.4;0.74;1.34	4.25	0.516	0.17019	.	0.154150	0.30093	N	0.010438	T	0.29684	0.0741	L	0.29908	0.895	0.09310	N	1	P;P;P	0.46912	0.784;0.886;0.51	B;B;B	0.42625	0.319;0.393;0.099	T	0.21177	-1.0253	10	0.62326	D	0.03	-12.5361	2.4645	0.04549	0.557:0.0:0.2365:0.2064	.	49;32;49	Q9Y4I5-3;Q6PHY4;Q9Y4I5	.;.;MTL5_HUMAN	I	49	ENSP00000255087:F49I;ENSP00000403086:F49I;ENSP00000440968:F49I	ENSP00000255087:F49I	F	-	1	0	MTL5	68274560	0.005000	0.15991	0.003000	0.11579	0.544000	0.35116	0.645000	0.24782	-0.070000	0.12908	0.255000	0.18592	TTC		0.647	MTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396844.1		NM_004923		5	15	0	0	0	0.000602	0	5	15		
CHORDC1	26973	broad.mit.edu	37	11	89956187	89956187	+	De_novo_Start_OutOfFrame	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr11:89956187C>T	ENST00000320585.6	-	0	345				CHORDC1_ENST00000530765.1_De_novo_Start_OutOfFrame|CHORDC1_ENST00000457199.2_De_novo_Start_OutOfFrame	NM_012124.2	NP_036256.2	Q9UHD1	CHRD1_HUMAN	cysteine and histidine-rich domain (CHORD) containing 1						chaperone-mediated protein folding (GO:0061077)|negative regulation of Rho-dependent protein serine/threonine kinase activity (GO:2000299)|regulation of cellular response to heat (GO:1900034)|regulation of centrosome duplication (GO:0010824)|response to stress (GO:0006950)		Hsp90 protein binding (GO:0051879)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				GCGTTTGCCACTCCCGTGTCG	0.602																																						uc001pdg.2		NaN																	0					0						c.(-66--62)GAGTG>GAATG		cysteine and histidine-rich domain-containing							18.0	18.0	18.0					11																	89956187		692	1591	2283			26973				chaperone-mediated protein folding|regulation of response to stress|response to stress		Hsp90 protein binding|identical protein binding	g.chr11:89956187C>T	AF192466	CCDS8289.1, CCDS44705.1	11q14.3	2011-01-25	2011-01-25		ENSG00000110172	ENSG00000110172			14525	protein-coding gene	gene with protein product		604353	"""cysteine and histidine-rich domain (CHORD)-containing, zinc-binding protein 1"", ""cysteine and histidine-rich domain (CHORD)-containing 1"""			10571178	Standard	NM_012124		Approved	CHP1	uc001pdg.2	Q9UHD1	OTTHUMG00000167305	ENST00000320585.6:c.-65G>A	11.37:g.89956187C>T						CHORDC1_uc009yvz.2_Translation_Start_Site		NM_012124	NP_036256	Q9UHD1	CHRD1_HUMAN			1	346	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)						B2R6P8|Q6IN49|Q8WVL9|Q9H3D6	Translation_Start_Site	SNP	ENST00000320585.6	37	c.-64G>A	CCDS8289.1																																																																																				0.602	CHORDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394111.1		NM_012124		7	12	0	0	0	0.00308	0	7	12		
ADAMTS8	11095	broad.mit.edu	37	11	130275730	130275730	+	Missense_Mutation	SNP	A	A	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr11:130275730A>T	ENST00000257359.6	-	9	3099	c.2393T>A	c.(2392-2394)tTc>tAc	p.F798Y		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	798	Spacer.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		TTTTGGGGGGAAGACCTCGCC	0.567																																						uc001qgg.3		NaN																	0				central_nervous_system(1)	1						c.(2392-2394)TTC>TAC		ADAM metallopeptidase with thrombospondin type 1							168.0	179.0	175.0					11																	130275730		2077	4207	6284	SO:0001583	missense	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130275730A>T	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.2393T>A	11.37:g.130275730A>T	ENSP00000257359:p.Phe798Tyr					ADAMTS8_uc001qgf.2_Missense_Mutation_p.F279Y	p.F798Y	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	9	2751	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	798			Spacer.		Q9NZS0	Missense_Mutation	SNP	ENST00000257359.6	37	c.2393T>A	CCDS41732.1	.	.	.	.	.	.	.	.	.	.	A	0.022	-1.410983	0.01145	.	.	ENSG00000134917	ENST00000531752;ENST00000257359;ENST00000414575	T	0.50548	0.74	5.22	4.1	0.47936	ADAM-TS Spacer 1 (1);	0.394021	0.30109	N	0.010390	T	0.30039	0.0752	N	0.05351	-0.065	0.26068	N	0.981258	B;P	0.34864	0.024;0.473	B;P	0.44422	0.023;0.449	T	0.36286	-0.9754	10	0.02654	T	1	.	10.678	0.45797	0.9245:0.0:0.0755:0.0	.	798;279	Q9UP79;B3KVX9	ATS8_HUMAN;.	Y	196;798;827	ENSP00000257359:F798Y	ENSP00000257359:F798Y	F	-	2	0	ADAMTS8	129780940	0.018000	0.18449	0.886000	0.34754	0.103000	0.19146	1.109000	0.31135	0.836000	0.34901	0.377000	0.23210	TTC		0.567	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1		NM_007037		110	34	0	0	0	0.01441	0	110	34		
CACNA1C	775	broad.mit.edu	37	12	2786965	2786965	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr12:2786965G>A	ENST00000347598.4	+	43	5167	c.5167G>A	c.(5167-5169)Gct>Act	p.A1723T	CACNA1C_ENST00000399603.1_Missense_Mutation_p.A1675T|CACNA1C_ENST00000399649.1_Missense_Mutation_p.A1681T|CACNA1C_ENST00000399629.1_Missense_Mutation_p.A1692T|CACNA1C_ENST00000399655.1_Missense_Mutation_p.A1675T|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399634.1_Missense_Mutation_p.A1675T|CACNA1C_ENST00000399637.1_Missense_Mutation_p.A1694T|CACNA1C_ENST00000399601.1_Missense_Mutation_p.A1675T|CACNA1C_ENST00000327702.7_Missense_Mutation_p.A1675T|CACNA1C_ENST00000399644.1_Missense_Mutation_p.A1675T|CACNA1C_ENST00000344100.3_Missense_Mutation_p.A1716T|CACNA1C_ENST00000399597.1_Missense_Mutation_p.A1675T|CACNA1C_ENST00000399641.1_Missense_Mutation_p.A1675T|CACNA1C_ENST00000402845.3_Missense_Mutation_p.A1694T|CACNA1C_ENST00000399638.1_Missense_Mutation_p.A1703T|CACNA1C_ENST00000406454.3_Missense_Mutation_p.A1675T|CACNA1C_ENST00000399595.1_Missense_Mutation_p.A1683T|CACNA1C_ENST00000335762.5_Missense_Mutation_p.A1700T|CACNA1C_ENST00000399591.1_Missense_Mutation_p.A1683T|CACNA1C_ENST00000399617.1_Missense_Mutation_p.A1675T|CACNA1C_ENST00000399621.1_Missense_Mutation_p.A1694T|CACNA1C_ENST00000399606.1_Missense_Mutation_p.A1695T	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1723					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AGATCTCACCGCTGAGGAGGA	0.612																																						uc009zdu.1		NaN																	0				ovary(10)|central_nervous_system(1)	11						c.(5167-5169)GCT>ACT		calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						54.0	61.0	59.0					12																	2786965		2125	4242	6367	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2786965G>A	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.5167G>A	12.37:g.2786965G>A	ENSP00000266376:p.Ala1723Thr					CACNA1C_uc009zdv.1_Missense_Mutation_p.A1672T|CACNA1C_uc001qkb.2_Missense_Mutation_p.A1675T|CACNA1C_uc001qkc.2_Missense_Mutation_p.A1694T|CACNA1C_uc001qke.2_Missense_Mutation_p.A1664T|CACNA1C_uc001qkf.2_Missense_Mutation_p.A1683T|CACNA1C_uc001qjz.2_Missense_Mutation_p.A1675T|CACNA1C_uc001qkd.2_Missense_Mutation_p.A1694T|CACNA1C_uc001qkg.2_Missense_Mutation_p.A1681T|CACNA1C_uc009zdw.1_Missense_Mutation_p.A1716T|CACNA1C_uc001qkh.2_Missense_Mutation_p.A1683T|CACNA1C_uc001qkl.2_Missense_Mutation_p.A1723T|CACNA1C_uc001qkn.2_Missense_Mutation_p.A1675T|CACNA1C_uc001qko.2_Missense_Mutation_p.A1695T|CACNA1C_uc001qkp.2_Missense_Mutation_p.A1675T|CACNA1C_uc001qkr.2_Missense_Mutation_p.A1692T|CACNA1C_uc001qku.2_Missense_Mutation_p.A1675T|CACNA1C_uc001qkq.2_Missense_Mutation_p.A1703T|CACNA1C_uc001qks.2_Missense_Mutation_p.A1675T|CACNA1C_uc001qkt.2_Missense_Mutation_p.A1694T|CACNA1C_uc001qki.1_Missense_Mutation_p.A1411T|CACNA1C_uc001qkj.1_Missense_Mutation_p.A1411T|CACNA1C_uc001qkk.1_Missense_Mutation_p.A1411T|CACNA1C_uc001qkm.1_Missense_Mutation_p.A1400T|CACNA1C_uc010sea.1_Missense_Mutation_p.A366T|uc001qkx.1_RNA|CACNA1C_uc001qky.1_5'UTR	p.A1723T	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	43	5480	+			1723			Cytoplasmic (Potential).		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.5167G>A	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.383524	0.25031	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96200	-3.86;-3.86;-3.86;-3.86;-3.86;-3.89;-3.78;-3.82;-3.86;-3.79;-3.78;-3.86;-3.92;-3.78;-3.7;-3.94;-3.88;-3.86;-3.89;-3.79;-3.89;-3.93	4.62	4.62	0.57501	.	292.508000	0.00166	N	0.000001	D	0.96009	0.8700	L	0.43152	1.355	0.51767	D	0.999938	P;D;P;B;D;P;P;D;B;B;D;P;B;P;P;P;D;B;D;B;P;D;D;P;P	0.63046	0.829;0.99;0.907;0.222;0.992;0.939;0.847;0.966;0.33;0.031;0.966;0.907;0.227;0.939;0.85;0.829;0.975;0.224;0.966;0.194;0.948;0.966;0.966;0.926;0.907	B;P;B;B;P;B;B;B;B;B;B;B;B;B;B;B;P;B;B;B;B;B;B;B;B	0.52856	0.21;0.49;0.131;0.018;0.711;0.407;0.121;0.407;0.027;0.012;0.407;0.131;0.04;0.407;0.122;0.283;0.455;0.027;0.245;0.027;0.09;0.407;0.407;0.307;0.131	D	0.86669	0.1909	10	0.16896	T	0.51	.	17.6395	0.88131	0.0:0.0:1.0:0.0	.	366;1716;1672;1723;1675;1694;1675;1692;1703;1675;1695;1675;1635;1723;1675;1675;1675;1683;1681;1683;1664;1694;1694;1675;1675	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	T	1700;1675;1675;1703;1675;1694;1694;1683;1675;1723;1695;1675;1716;1692;1675;1681;1694;1675;1675;1675;1675;1683;1505	ENSP00000336982:A1700T;ENSP00000382563:A1675T;ENSP00000382552:A1675T;ENSP00000382547:A1703T;ENSP00000382506:A1675T;ENSP00000382530:A1694T;ENSP00000382546:A1694T;ENSP00000382500:A1683T;ENSP00000382549:A1675T;ENSP00000266376:A1723T;ENSP00000382515:A1695T;ENSP00000382510:A1675T;ENSP00000341092:A1716T;ENSP00000382537:A1692T;ENSP00000329877:A1675T;ENSP00000382557:A1681T;ENSP00000385724:A1694T;ENSP00000382512:A1675T;ENSP00000382542:A1675T;ENSP00000382526:A1675T;ENSP00000385896:A1675T;ENSP00000382504:A1683T	ENSP00000323129:A1505T	A	+	1	0	CACNA1C	2657226	1.000000	0.71417	0.038000	0.18304	0.077000	0.17291	9.130000	0.94437	2.402000	0.81655	0.467000	0.42956	GCT		0.612	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1		NM_000719		30	18	0	0	0	0.008361	0	30	18		
ATN1	1822	broad.mit.edu	37	12	7043167	7043167	+	Start_Codon_SNP	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr12:7043167G>A	ENST00000356654.4	+	2	240	c.3G>A	c.(1-3)atG>atA	p.M1I	ATN1_ENST00000396684.2_Start_Codon_SNP_p.M1I	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	1					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CCTGAAGAATGAAGACACGAC	0.517																																						uc001qrw.1		NaN																	0				ovary(2)|breast(2)|pancreas(1)|skin(1)	6						c.(1-3)ATG>ATA		atrophin-1							40.0	40.0	40.0					12																	7043167		2203	4300	6503	SO:0001582	initiator_codon_variant	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7043167G>A	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.3G>A	12.37:g.7043167G>A	ENSP00000349076:p.Met1Ile					ATN1_uc001qrx.1_Missense_Mutation_p.M1I|ATN1_uc001qry.1_Missense_Mutation_p.M1I	p.M1I	NM_001007026	NP_001007027	P54259	ATN1_HUMAN			2	240	+			1					Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	ENST00000356654.4	37	c.3G>A	CCDS31734.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.800127	0.70567	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325	T;T;T	0.70516	-0.49;-0.49;-0.49	4.94	4.94	0.65067	.	0.000000	0.35739	U	0.003009	D	0.85252	0.5654	.	.	.	0.47065	D	0.999304	D;D	0.69078	0.997;0.991	D;D	0.76575	0.985;0.988	D	0.87118	0.2189	9	0.87932	D	0	.	19.0556	0.93064	0.0:0.0:1.0:0.0	.	1;1	Q86V38;P54259	.;ATN1_HUMAN	I	1	ENSP00000349076:M1I;ENSP00000379915:M1I;ENSP00000441744:M1I	ENSP00000349076:M1I	M	+	3	0	ATN1	6913428	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.157000	0.89647	2.675000	0.91044	0.544000	0.68410	ATG		0.517	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2		NM_001940	Missense_Mutation	6	12	0	0	0	0.001168	0	6	12		
CD163	9332	broad.mit.edu	37	12	7655119	7655119	+	Missense_Mutation	SNP	T	T	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr12:7655119T>G	ENST00000359156.4	-	2	290	c.88A>C	c.(88-90)Act>Cct	p.T30P	CD163_ENST00000396620.3_Missense_Mutation_p.T30P|CD163_ENST00000541972.1_Missense_Mutation_p.T18P|CD163_ENST00000432237.2_Missense_Mutation_p.T30P	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	30					acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	aagaccacagtaatggtgaag	0.408																																						uc001qsz.3		NaN																	0				ovary(6)|pancreas(1)|skin(1)	8						c.(88-90)ACT>CCT		CD163 antigen isoform a							82.0	71.0	75.0					12																	7655119		2201	4300	6501	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7655119T>G	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.88A>C	12.37:g.7655119T>G	ENSP00000352071:p.Thr30Pro					CD163_uc001qta.3_Missense_Mutation_p.T30P|CD163_uc009zfw.2_Missense_Mutation_p.T30P	p.T30P	NM_004244	NP_004235	Q86VB7	C163A_HUMAN			2	216	-			30					C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.88A>C	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	T	1.582	-0.531316	0.04112	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.01279	5.06;5.07;5.07;5.07	3.42	1.59	0.23543	.	0.826504	0.09875	N	0.744426	T	0.01061	0.0035	N	0.14661	0.345	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.04013	0.0;0.001;0.0	T	0.48410	-0.9038	10	0.31617	T	0.26	.	5.8901	0.18909	0.0:0.7529:0.0:0.2471	.	30;30;30	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	P	30;18;30;30	ENSP00000352071:T30P;ENSP00000444071:T18P;ENSP00000379863:T30P;ENSP00000403885:T30P	ENSP00000352071:T30P	T	-	1	0	CD163	7546386	0.001000	0.12720	0.004000	0.12327	0.013000	0.08279	-0.041000	0.12084	0.423000	0.26033	-1.064000	0.02280	ACT		0.408	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2		NM_004244, NM_203416		2	5	0	0	0	0.004672	0	2	5		
A2ML1	144568	broad.mit.edu	37	12	8988145	8988145	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr12:8988145C>T	ENST00000299698.7	+	6	706	c.526C>T	c.(526-528)Cct>Tct	p.P176S		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						GGAAGTGGTACCTGAGCAAGG	0.527																																						uc001quz.3		NaN																	0				ovary(2)|skin(1)	3						c.(526-528)CCT>TCT		alpha-2-macroglobulin-like 1 precursor							114.0	119.0	118.0					12																	8988145		2067	4212	6279	SO:0001583	missense	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:8988145C>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.526C>T	12.37:g.8988145C>T	ENSP00000299698:p.Pro176Ser						p.P176S	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN			6	624	+			20						Missense_Mutation	SNP	ENST00000299698.7	37	c.526C>T	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	C	8.941	0.965875	0.18659	.	.	ENSG00000166535	ENST00000299698;ENST00000539161	T	0.72167	-0.63	3.85	3.85	0.44370	Alpha-2-macroglobulin, N-terminal (1);	0.534932	0.15862	N	0.240973	T	0.45915	0.1366	N	0.04508	-0.205	0.43819	D	0.996386	B	0.32653	0.379	B	0.34991	0.193	T	0.41627	-0.9498	10	0.09338	T	0.73	.	11.5846	0.50910	0.0:1.0:0.0:0.0	.	176	A8K2U0	A2ML1_HUMAN	S	176	ENSP00000299698:P176S	ENSP00000299698:P176S	P	+	1	0	A2ML1	8879412	0.427000	0.25514	0.031000	0.17742	0.044000	0.14063	2.794000	0.47853	2.439000	0.82584	0.462000	0.41574	CCT		0.527	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3		NM_144670		17	53	0	0	0	0.006122	0	17	53		
A2M	2	broad.mit.edu	37	12	9232332	9232332	+	Silent	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr12:9232332G>C	ENST00000318602.7	-	24	3241	c.2934C>G	c.(2932-2934)gtC>gtG	p.V978V	A2M_ENST00000542567.1_5'UTR	NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	978					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	GAGCAAAGAGGACCATATTCT	0.453																																						uc001qvk.1		NaN																	0				central_nervous_system(4)|skin(1)	5						c.(2932-2934)GTC>GTG		alpha-2-macroglobulin precursor	Bacitracin(DB00626)|Becaplermin(DB00102)						118.0	113.0	115.0					12																	9232332		2087	4257	6344	SO:0001819	synonymous_variant	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9232332G>C	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.2934C>G	12.37:g.9232332G>C						A2M_uc001qvj.1_Silent_p.V20V|A2M_uc009zgk.1_Silent_p.V828V	p.V978V	NM_000014	NP_000005	P01023	A2MG_HUMAN			24	3047	-			978					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Silent	SNP	ENST00000318602.7	37	c.2934C>G	CCDS44827.1																																																																																				0.453	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2		NM_000014		5	7	0	0	0	0.001984	0	5	7		
GPR19	2842	broad.mit.edu	37	12	12814505	12814505	+	Missense_Mutation	SNP	T	T	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr12:12814505T>C	ENST00000540510.1	-	2	1070	c.878A>G	c.(877-879)cAt>cGt	p.H293R	GPR19_ENST00000332427.2_Missense_Mutation_p.H293R			P46093	GPR4_HUMAN	G protein-coupled receptor 19	241					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		CTGAGCTACATGAAAAGGCAG	0.408																																						uc001rar.3		NaN																	0				ovary(1)	1						c.(877-879)CAT>CGT		G protein-coupled receptor 19							58.0	62.0	61.0					12																	12814505		2203	4300	6503	SO:0001583	missense	2842					integral to plasma membrane	G-protein coupled receptor activity	g.chr12:12814505T>C		CCDS8652.1	12p12.3	2014-01-30				ENSG00000183150		"""GPCR / Class A : Orphans"""	4473	protein-coding gene	gene with protein product		602927					Standard	NM_006143		Approved		uc001raq.2	Q15760		ENST00000540510.1:c.878A>G	12.37:g.12814505T>C	ENSP00000441832:p.His293Arg					GPR19_uc001raq.2_Missense_Mutation_p.H293R	p.H293R	NM_006143	NP_006134	Q15760	GPR19_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.048)	2	1071	-		Prostate(47;0.0802)	293			Helical; Name=6; (Potential).		A8K3T3|B0M0K1|Q6NWM4	Missense_Mutation	SNP	ENST00000540510.1	37	c.878A>G	CCDS8652.1	.	.	.	.	.	.	.	.	.	.	T	9.013	0.983056	0.18889	.	.	ENSG00000183150	ENST00000540510;ENST00000332427	T;T	0.39406	1.08;1.08	5.53	5.53	0.82687	GPCR, rhodopsin-like superfamily (1);	0.130115	0.52532	D	0.000063	T	0.45856	0.1363	L	0.54323	1.7	0.39567	D	0.969221	P	0.42584	0.784	P	0.48368	0.575	T	0.40478	-0.9561	10	0.27082	T	0.32	-19.3996	11.3335	0.49490	0.1361:0.0:0.0:0.8639	.	293	Q15760	GPR19_HUMAN	R	293	ENSP00000441832:H293R;ENSP00000333744:H293R	ENSP00000333744:H293R	H	-	2	0	GPR19	12705772	1.000000	0.71417	0.836000	0.33094	0.970000	0.65996	3.245000	0.51407	2.098000	0.63641	0.533000	0.62120	CAT		0.408	GPR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400662.1		NM_006143		9	23	0	0	0	0.004482	0	9	23		
PLEKHA8P1	51054	broad.mit.edu	37	12	45567437	45567437	+	RNA	SNP	A	A	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr12:45567437A>G	ENST00000256692.5	-	0	1248					NR_037144.1		O95397	PKHA9_HUMAN	pleckstrin homology domain containing, family A member 8 pseudogene 1							cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACAGGAGCAAACACTGTAGGG	0.393																																						uc001rom.1		NaN																	0					0						c.(712-714)TTT>CTT		pleckstrin homology domain containing, family A							175.0	164.0	168.0					12																	45567437		2203	4300	6503			51054							g.chr12:45567437A>G	AF103731		12q12	2010-11-24	2010-11-24	2010-11-24	ENSG00000134297	ENSG00000134297			30222	pseudogene	pseudogene	"""putative glycolipid transfer protein"""		"""pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 9"""	PLEKHA9		12477932	Standard	NR_037144		Approved	FLJ14156	uc001rom.2	O95397			12.37:g.45567437A>G						PLEKHA9_uc009zke.2_Missense_Mutation_p.F238L	p.F238L	NM_015899	NP_056983				GBM - Glioblastoma multiforme(48;0.173)	3	1249	-	Lung SC(27;0.192)|Renal(347;0.236)								Missense_Mutation	SNP	ENST00000256692.5	37	c.712T>C																																																																																					0.393	PLEKHA8P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000404814.1		NR_037144		70	70	0	0	0	0.01441	0	70	70		
ESPL1	9700	broad.mit.edu	37	12	53670542	53670542	+	Silent	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr12:53670542G>A	ENST00000257934.4	+	8	1930	c.1839G>A	c.(1837-1839)ctG>ctA	p.L613L	ESPL1_ENST00000552462.1_Silent_p.L613L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	613					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TCCTGGAGCTGAGCCCCGAGG	0.642																																					Colon(53;1069 1201 2587 5382)	uc001sck.2		NaN																	0				lung(1)|kidney(1)|skin(1)	3						c.(1837-1839)CTG>CTA		separase							50.0	53.0	52.0					12																	53670542		2203	4299	6502	SO:0001819	synonymous_variant	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53670542G>A	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.1839G>A	12.37:g.53670542G>A						ESPL1_uc001scj.2_Silent_p.L288L|ESPL1_uc010soe.1_5'Flank	p.L613L	NM_012291	NP_036423	Q14674	ESPL1_HUMAN			8	1930	+			613						Silent	SNP	ENST00000257934.4	37	c.1839G>A	CCDS8852.1																																																																																				0.642	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2		NM_012291		15	52	0	0	0	0.003163	0	15	52		
MMP19	4327	broad.mit.edu	37	12	56236139	56236139	+	Silent	SNP	C	C	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr12:56236139C>A	ENST00000322569.4	-	2	262	c.171G>T	c.(169-171)ctG>ctT	p.L57L	MMP19_ENST00000548629.1_Silent_p.L57L|MMP19_ENST00000547487.1_5'UTR|MMP19_ENST00000409200.3_Silent_p.L57L	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	57					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|luteolysis (GO:0001554)|ovarian follicle development (GO:0001541)|ovulation from ovarian follicle (GO:0001542)|proteolysis (GO:0006508)|response to cAMP (GO:0051591)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26					Marimastat(DB00786)	CTTCTCACCTCAGAGCCTCGG	0.502																																						uc001sib.2		NaN																	0				ovary(1)	1						c.(169-171)CTG>CTT		matrix metalloproteinase 19 isoform rasi-1							154.0	120.0	131.0					12																	56236139		2203	4300	6503	SO:0001819	synonymous_variant	4327				angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr12:56236139C>A	X92521	CCDS8895.1, CCDS61146.1	12q14	2005-08-08	2005-08-08			ENSG00000123342			7165	protein-coding gene	gene with protein product		601807	"""matrix metalloproteinase 19"""	MMP18		9232430	Standard	NM_002429		Approved	RASI-1	uc001sib.4	Q99542	OTTHUMG00000170216	ENST00000322569.4:c.171G>T	12.37:g.56236139C>A						MMP19_uc001sia.2_5'Flank|MMP19_uc001sid.2_RNA|MMP19_uc010spw.1_Silent_p.L57L	p.L57L	NM_002429	NP_002420	Q99542	MMP19_HUMAN			2	292	-			57					B4E030|O15278|O95606|Q99580	Silent	SNP	ENST00000322569.4	37	c.171G>T	CCDS8895.1																																																																																				0.502	MMP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408023.1		NM_002429		24	74	1	0	1.64293e-13	0.00333	1.79891e-13	24	74		
LRP1	4035	broad.mit.edu	37	12	57550039	57550039	+	Missense_Mutation	SNP	A	A	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr12:57550039A>G	ENST00000243077.3	+	9	1856	c.1390A>G	c.(1390-1392)Atc>Gtc	p.I464V		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	464					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGCCCTCCACATCTACCACCA	0.607																																						uc001snd.2		NaN																	0				ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(1390-1392)ATC>GTC		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						99.0	79.0	86.0					12																	57550039		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57550039A>G	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.1390A>G	12.37:g.57550039A>G	ENSP00000243077:p.Ile464Val						p.I464V	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	9	1856	+			464			Extracellular (Potential).		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.1390A>G	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	A	4.898	0.166831	0.09339	.	.	ENSG00000123384	ENST00000243077	D	0.90620	-2.7	4.44	4.44	0.53790	Six-bladed beta-propeller, TolB-like (1);	0.080321	0.50627	D	0.000119	T	0.70159	0.3192	N	0.01134	-0.995	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.69555	-0.5114	10	0.05436	T	0.98	.	11.9855	0.53145	1.0:0.0:0.0:0.0	.	464	Q07954	LRP1_HUMAN	V	464	ENSP00000243077:I464V	ENSP00000243077:I464V	I	+	1	0	LRP1	55836306	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	3.926000	0.56491	2.002000	0.58637	0.260000	0.18958	ATC		0.607	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2		NM_002332		8	39	0	0	0	0.00308	0	8	39		
GLI1	2735	broad.mit.edu	37	12	57865459	57865459	+	Missense_Mutation	SNP	A	A	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr12:57865459A>G	ENST00000228682.2	+	12	3027	c.2936A>G	c.(2935-2937)aAt>aGt	p.N979S	GLI1_ENST00000543426.1_Missense_Mutation_p.N851S|GLI1_ENST00000546141.1_Missense_Mutation_p.N938S	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	979					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GTGGGGGCAAATAGGGCTTCA	0.537																																					Pancreas(157;841 1936 10503 41495 50368)	uc001snx.2		NaN																	0				skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15						c.(2935-2937)AAT>AGT		GLI family zinc finger 1 isoform 1							82.0	85.0	84.0					12																	57865459		2203	4300	6503	SO:0001583	missense	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57865459A>G		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.2936A>G	12.37:g.57865459A>G	ENSP00000228682:p.Asn979Ser					GLI1_uc009zpq.2_Missense_Mutation_p.N851S	p.N979S	NM_005269	NP_005260	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		12	3014	+			979					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	c.2936A>G	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	A	6.140	0.393960	0.11638	.	.	ENSG00000111087	ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467;ENST00000443131	T;T;T;T	0.12465	2.79;2.68;2.76;2.76	4.53	3.37	0.38596	.	0.300594	0.24143	N	0.041154	T	0.09158	0.0226	L	0.36672	1.1	0.09310	N	1	B	0.20368	0.044	B	0.19148	0.024	T	0.30563	-0.9974	10	0.23302	T	0.38	.	4.729	0.12955	0.6749:0.2257:0.0995:0.0	.	979	P08151	GLI1_HUMAN	S	851;979;938;938;447	ENSP00000437607:N851S;ENSP00000228682:N979S;ENSP00000441006:N938S;ENSP00000434408:N938S	ENSP00000228682:N979S	N	+	2	0	GLI1	56151726	0.000000	0.05858	0.063000	0.19743	0.744000	0.42396	-0.186000	0.09670	0.860000	0.35481	0.454000	0.30748	AAT		0.537	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1		NM_005269		27	86	0	0	0	0.004656	0	27	86		
E2F7	144455	broad.mit.edu	37	12	77458337	77458337	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr12:77458337C>G	ENST00000322886.7	-	2	314	c.79G>C	c.(79-81)Gaa>Caa	p.E27Q	E2F7_ENST00000416496.2_Missense_Mutation_p.E27Q	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	27					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						TGTGCATTTTCCCCATCTTCA	0.373																																						uc001sym.3		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						c.(79-81)GAA>CAA		E2F transcription factor 7							174.0	164.0	167.0					12																	77458337		2203	4300	6503	SO:0001583	missense	144455				cell cycle	transcription factor complex	DNA binding|identical protein binding	g.chr12:77458337C>G	BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.79G>C	12.37:g.77458337C>G	ENSP00000323246:p.Glu27Gln					E2F7_uc001syn.2_Missense_Mutation_p.E27Q	p.E27Q	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN			2	315	-			27					A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Missense_Mutation	SNP	ENST00000322886.7	37	c.79G>C	CCDS9016.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.079207	0.55753	.	.	ENSG00000165891	ENST00000322886;ENST00000416496;ENST00000550669;ENST00000547316	D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89	5.03	4.15	0.48705	.	0.306169	0.35677	N	0.003052	T	0.78477	0.4289	L	0.47716	1.5	0.23174	N	0.998173	P;P	0.39391	0.493;0.671	B;B	0.38616	0.277;0.143	T	0.68827	-0.5306	10	0.35671	T	0.21	-6.0662	7.5308	0.27681	0.0:0.8123:0.0:0.1877	.	27;27	F8VSE7;Q96AV8	.;E2F7_HUMAN	Q	27	ENSP00000323246:E27Q;ENSP00000393639:E27Q;ENSP00000448245:E27Q;ENSP00000449033:E27Q	ENSP00000323246:E27Q	E	-	1	0	E2F7	75982468	0.003000	0.15002	0.999000	0.59377	0.958000	0.62258	0.615000	0.24329	1.351000	0.45789	0.561000	0.74099	GAA		0.373	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1		XM_084871		19	58	0	0	0	0.010504	0	19	58		
KERA	11081	broad.mit.edu	37	12	91449916	91449916	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr12:91449916C>G	ENST00000266719.3	-	2	390	c.143G>C	c.(142-144)tGc>tCc	p.C48S		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	48	Cys-rich.|LRRNT.				carbohydrate metabolic process (GO:0005975)|cornea development in camera-type eye (GO:0061303)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|response to stimulus (GO:0050896)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						ACTGGGTGGGCAGAAACATTC	0.393																																						uc001tbl.2		NaN																	0				skin(1)	1						c.(142-144)TGC>TCC		keratocan precursor							96.0	81.0	86.0					12																	91449916		2203	4299	6502	SO:0001583	missense	11081				response to stimulus|visual perception	proteinaceous extracellular matrix		g.chr12:91449916C>G	AF063301	CCDS9037.1	12q21.3-q22	2014-09-17				ENSG00000139330		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6309	protein-coding gene	gene with protein product	"""keratocan proteoglycan"""	603288		CNA2		10565548, 10802664	Standard	NM_007035		Approved	SLRR2B	uc001tbl.3	O60938		ENST00000266719.3:c.143G>C	12.37:g.91449916C>G	ENSP00000266719:p.Cys48Ser						p.C48S	NM_007035	NP_008966	O60938	KERA_HUMAN			2	762	-			48			LRRNT.|Cys-rich.			Missense_Mutation	SNP	ENST00000266719.3	37	c.143G>C	CCDS9037.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.566212	0.65651	.	.	ENSG00000139330	ENST00000266719	D	0.99784	-6.74	5.93	5.93	0.95920	Leucine-rich repeat-containing N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.99771	0.9906	M	0.82323	2.585	0.80722	D	1	D	0.56746	0.977	D	0.67900	0.954	D	0.97702	1.0185	10	0.87932	D	0	-14.1484	20.4192	0.99033	0.0:1.0:0.0:0.0	.	48	O60938	KERA_HUMAN	S	48	ENSP00000266719:C48S	ENSP00000266719:C48S	C	-	2	0	KERA	89974047	1.000000	0.71417	0.998000	0.56505	0.538000	0.34931	7.484000	0.81180	2.832000	0.97577	0.650000	0.86243	TGC		0.393	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407149.2		NM_007035		4	6	0	0	0	0.000602	0	4	6		
IKBIP	121457	broad.mit.edu	37	12	99038453	99038453	+	Missense_Mutation	SNP	C	C	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr12:99038453C>A	ENST00000342502.2	-	1	438	c.27G>T	c.(25-27)aaG>aaT	p.K9N	IKBIP_ENST00000299157.4_Missense_Mutation_p.K9N|APAF1_ENST00000359972.2_5'Flank|APAF1_ENST00000333991.1_5'Flank|IKBIP_ENST00000420861.1_5'UTR|APAF1_ENST00000547743.1_5'Flank|IKBIP_ENST00000393042.3_Missense_Mutation_p.K9N|APAF1_ENST00000357310.1_5'Flank|APAF1_ENST00000551964.1_5'Flank|APAF1_ENST00000339433.3_5'Flank	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	9					response to X-ray (GO:0010165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						TGGGCCCCGACTTCTTCCGGC	0.706																																						uc001tfv.2		NaN																	0					0						c.(25-27)AAG>AAT		IKK interacting protein isoform 2							18.0	21.0	20.0					12																	99038453		2194	4273	6467	SO:0001583	missense	121457				induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr12:99038453C>A	AJ539425	CCDS9067.1, CCDS9068.1, CCDS41822.1	12q23.1	2010-02-17			ENSG00000166130	ENSG00000166130			26430	protein-coding gene	gene with protein product	"""I kappa B kinase interacting protein"""	609861				15389287	Standard	NM_153687		Approved	FLJ31051, IKIP	uc001tfx.4	Q70UQ0	OTTHUMG00000170213	ENST00000342502.2:c.27G>T	12.37:g.99038453C>A	ENSP00000343471:p.Lys9Asn					APAF1_uc001tfy.2_5'Flank|APAF1_uc001tfz.2_5'Flank|APAF1_uc001tga.2_5'Flank|APAF1_uc001tgb.2_5'Flank|APAF1_uc001tgc.2_5'Flank|IKBIP_uc001tfw.2_Missense_Mutation_p.K9N|IKBIP_uc001tfx.2_Missense_Mutation_p.K9N	p.K9N	NM_201612	NP_963906	Q70UQ0	IKIP_HUMAN			1	137	-			9					Q6ZWH4|Q70UP9|Q86V91|Q96ND2	Missense_Mutation	SNP	ENST00000342502.2	37	c.27G>T	CCDS9067.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.423933	0.62733	.	.	ENSG00000166130	ENST00000393042;ENST00000342502;ENST00000299157	T;T	0.59638	0.25;0.34	4.27	2.42	0.29668	.	2.744810	0.01231	N	0.008344	T	0.63757	0.2538	L	0.52573	1.65	0.80722	D	1	P;P;P	0.51351	0.944;0.944;0.835	P;P;B	0.52957	0.714;0.714;0.429	T	0.60439	-0.7263	10	0.72032	D	0.01	-12.5838	4.6693	0.12682	0.0:0.6369:0.0:0.3631	.	9;9;9	Q70UQ0-4;Q70UQ0-3;Q70UQ0	.;.;IKIP_HUMAN	N	9	ENSP00000343471:K9N;ENSP00000299157:K9N	ENSP00000299157:K9N	K	-	3	2	IKBIP	97562584	0.801000	0.28930	0.986000	0.45419	0.981000	0.71138	0.665000	0.25083	1.134000	0.42165	0.561000	0.74099	AAG		0.706	IKBIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000408003.2		NM_153687		12	34	1	0	1.05317e-09	0.00245	1.13167e-09	12	34		
UTP20	27340	broad.mit.edu	37	12	101745949	101745949	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr12:101745949G>C	ENST00000261637.4	+	39	5175	c.5001G>C	c.(4999-5001)caG>caC	p.Q1667H		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1667					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						AAACGGGACAGATCAATCAAA	0.353																																						uc001tia.1		NaN																	0				ovary(2)|breast(2)	4						c.(4999-5001)CAG>CAC		down-regulated in metastasis							154.0	152.0	152.0					12																	101745949		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101745949G>C	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.5001G>C	12.37:g.101745949G>C	ENSP00000261637:p.Gln1667His						p.Q1667H	NM_014503	NP_055318	O75691	UTP20_HUMAN			39	5157	+			1667					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.5001G>C	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.558762	0.65538	.	.	ENSG00000120800	ENST00000261637	T	0.64803	-0.12	5.84	4.72	0.59763	Armadillo-type fold (1);	0.170221	0.53938	D	0.000054	T	0.68568	0.3015	M	0.63843	1.955	0.46279	D	0.99896	D	0.57571	0.98	P	0.53593	0.73	T	0.68769	-0.5321	10	0.44086	T	0.13	-18.6576	12.2613	0.54652	0.1028:0.0:0.8972:0.0	.	1667	O75691	UTP20_HUMAN	H	1667	ENSP00000261637:Q1667H	ENSP00000261637:Q1667H	Q	+	3	2	UTP20	100270080	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	2.751000	0.47508	1.129000	0.42072	0.655000	0.94253	CAG		0.353	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1		NM_014503		12	43	0	0	0	0.001855	0	12	43		
UTP20	27340	broad.mit.edu	37	12	101760349	101760349	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr12:101760349C>T	ENST00000261637.4	+	47	6313	c.6139C>T	c.(6139-6141)Cca>Tca	p.P2047S		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2047					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TCCAGTAGCCCCAGCACCAGA	0.512																																						uc001tia.1		NaN																	0				ovary(2)|breast(2)	4						c.(6139-6141)CCA>TCA		down-regulated in metastasis							174.0	150.0	158.0					12																	101760349		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101760349C>T	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.6139C>T	12.37:g.101760349C>T	ENSP00000261637:p.Pro2047Ser						p.P2047S	NM_014503	NP_055318	O75691	UTP20_HUMAN			47	6295	+			2047					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.6139C>T	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.848321	0.51164	.	.	ENSG00000120800	ENST00000261637	T	0.16897	2.31	5.37	5.37	0.77165	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.19406	0.0466	M	0.65975	2.015	0.58432	D	0.99999	B	0.28439	0.212	B	0.27380	0.079	T	0.04347	-1.0958	10	0.09338	T	0.73	-16.9447	15.4787	0.75508	0.0:0.8613:0.1387:0.0	.	2047	O75691	UTP20_HUMAN	S	2047	ENSP00000261637:P2047S	ENSP00000261637:P2047S	P	+	1	0	UTP20	100284480	0.630000	0.27155	0.997000	0.53966	0.657000	0.38888	1.274000	0.33132	2.508000	0.84585	0.563000	0.77884	CCA		0.512	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1		NM_014503		45	39	0	0	0	0.01441	0	45	39		
DNAH10	196385	broad.mit.edu	37	12	124341734	124341734	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr12:124341734C>T	ENST00000409039.3	+	36	6241	c.6216C>T	c.(6214-6216)gaC>gaT	p.D2072D		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2072					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCTACCCTGACTTCAACGATG	0.532																																						uc001uft.3		NaN																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(6214-6216)GAC>GAT		dynein, axonemal, heavy chain 10							130.0	130.0	130.0					12																	124341734		2069	4195	6264	SO:0001819	synonymous_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124341734C>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.6216C>T	12.37:g.124341734C>T							p.D2072D	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	36	6241	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		2072					C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	c.6216C>T	CCDS9255.2																																																																																				0.532	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3				17	54	0	0	0	0.00499	0	17	54		
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs10902490|rs528214697	byFrequency	TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr12:132547093A>G	ENST00000333577.4	+	48	8398	c.8289A>G	c.(8287-8289)caA>caG	p.Q2763Q	EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000389561.2_Silent_p.Q2727Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				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)	p.Q2726Q(9)		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)		agcagcaacaacagcagcagc	0.567																																						uc001ujn.2		NaN																	9	Substitution - coding silent(9)		lung(3)|kidney(2)|endometrium(2)|central_nervous_system(2)	central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12						c.(8179-8181)CAA>CAG		E1A binding protein p400							25.0	29.0	28.0					12																	132547093		2173	4217	6390	SO:0001819	synonymous_variant	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.chr12:132547093A>G	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.8289A>G	12.37:g.132547093A>G						EP400_uc001ujl.2_Silent_p.Q2726Q|EP400_uc001ujm.2_Silent_p.Q2646Q|EP400_uc001ujp.2_5'UTR	p.Q2727Q	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)	46	8216	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2763			Poly-Gln.|Interaction with ZNF42 (By similarity).		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8181A>G																																																																																					0.567	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_015409		3	55	0	0	0	0.004672	0	3	55		
FAM124A	220108	broad.mit.edu	37	13	51855235	51855235	+	Missense_Mutation	SNP	G	G	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr13:51855235G>T	ENST00000322475.8	+	4	1619	c.1484G>T	c.(1483-1485)cGt>cTt	p.R495L	FAM124A_ENST00000280057.6_Missense_Mutation_p.R531L	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	495										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		GCGACAGCTCGTGCTGCTCCC	0.612																																						uc001vfg.1		NaN																	0				central_nervous_system(1)	1						c.(1483-1485)CGT>CTT		hypothetical protein LOC220108							95.0	86.0	89.0					13																	51855235		2203	4300	6503	SO:0001583	missense	220108							g.chr13:51855235G>T	AK096364	CCDS9427.1, CCDS55900.1	13q14.3	2006-08-11			ENSG00000150510	ENSG00000150510			26413	protein-coding gene	gene with protein product						12975309	Standard	NM_145019		Approved	FLJ30707	uc001vff.2	Q86V42	OTTHUMG00000016942	ENST00000322475.8:c.1484G>T	13.37:g.51855235G>T	ENSP00000324625:p.Arg495Leu					FAM124A_uc001vff.1_Missense_Mutation_p.R531L	p.R495L	NM_145019	NP_659456	Q86V42	F124A_HUMAN		GBM - Glioblastoma multiforme(99;4.25e-07)	4	1615	+		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)	495					A2A324|Q8N8P9|Q8NE66|Q96NJ9	Missense_Mutation	SNP	ENST00000322475.8	37	c.1484G>T	CCDS55900.1	.	.	.	.	.	.	.	.	.	.	G	9.765	1.171252	0.21621	.	.	ENSG00000150510	ENST00000322475;ENST00000280057	T;T	0.40476	1.06;1.03	5.46	-1.27	0.09347	.	1.711130	0.03691	N	0.247050	T	0.22475	0.0542	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15122	-1.0448	10	0.29301	T	0.29	-30.1954	6.1809	0.20470	0.0:0.3319:0.2772:0.391	.	495;531	Q86V42;Q86V42-2	F124A_HUMAN;.	L	495;531	ENSP00000324625:R495L;ENSP00000280057:R531L	ENSP00000280057:R531L	R	+	2	0	FAM124A	50753236	0.004000	0.15560	0.000000	0.03702	0.009000	0.06853	-0.364000	0.07583	-0.135000	0.11495	0.650000	0.86243	CGT		0.612	FAM124A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045019.3		NM_145019		28	46	1	0	1.39806e-14	0.008361	1.54545e-14	28	46		
ABCC4	10257	broad.mit.edu	37	13	95840790	95840790	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr13:95840790C>T	ENST00000376887.4	-	10	1384	c.1270G>A	c.(1270-1272)Gag>Aag	p.E424K	ABCC4_ENST00000412704.1_Missense_Mutation_p.E424K|ABCC4_ENST00000536256.1_Missense_Mutation_p.E349K|ABCC4_ENST00000431522.1_Missense_Mutation_p.E424K|ABCC4_ENST00000538287.1_3'UTR	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	424	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	GTTGGGGTCTCTGATGCCTAC	0.418																																						uc001vmd.3		NaN																	0				central_nervous_system(3)|skin(1)	4						c.(1270-1272)GAG>AAG		ATP-binding cassette, sub-family C, member 4	Cefazolin(DB01327)						99.0	97.0	98.0					13																	95840790		2203	4300	6503	SO:0001583	missense	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95840790C>T	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.1270G>A	13.37:g.95840790C>T	ENSP00000366084:p.Glu424Lys					ABCC4_uc010afk.2_Missense_Mutation_p.E424K|ABCC4_uc001vme.2_Missense_Mutation_p.E424K|ABCC4_uc010tih.1_Missense_Mutation_p.E349K|ABCC4_uc001vmf.2_Missense_Mutation_p.E381K|ABCC4_uc010afl.1_Missense_Mutation_p.E381K|ABCC4_uc010afm.1_Missense_Mutation_p.E437K	p.E424K	NM_005845	NP_005836	O15439	MRP4_HUMAN			10	1389	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		424			ABC transporter 1.		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	37	c.1270G>A	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.421771	0.43020	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000536256;ENST00000431522	D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7	5.22	5.22	0.72569	ABC transporter, transmembrane domain, type 1 (1);ABC transporter-like (1);	0.270918	0.40908	D	0.000983	D	0.83931	0.5361	N	0.21194	0.64	0.58432	D	0.999996	B;B;B;B;B	0.22346	0.003;0.06;0.004;0.028;0.068	B;B;B;B;B	0.22601	0.01;0.036;0.012;0.022;0.04	T	0.79401	-0.1819	10	0.08599	T	0.76	.	18.7871	0.91960	0.0:1.0:0.0:0.0	.	349;424;424;424;424	B7Z3Q7;A8K2Q2;O15439-2;Q8IVZ4;O15439	.;.;.;.;MRP4_HUMAN	K	424;424;349;424	ENSP00000388657:E424K;ENSP00000366084:E424K;ENSP00000442024:E349K;ENSP00000398562:E424K	ENSP00000366084:E424K	E	-	1	0	ABCC4	94638791	1.000000	0.71417	0.243000	0.24186	0.199000	0.23934	6.379000	0.73154	2.447000	0.82792	0.637000	0.83480	GAG		0.418	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2		NM_005845		25	49	0	0	0	0.00333	0	25	49		
AP1G2	8906	broad.mit.edu	37	14	24029009	24029009	+	Silent	SNP	C	C	T	rs375074145		TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr14:24029009C>T	ENST00000308724.5	-	21	3062	c.2307G>A	c.(2305-2307)tcG>tcA	p.S769S	RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Silent_p.S769S|RP11-66N24.4_ENST00000556354.1_RNA|THTPA_ENST00000288014.6_3'UTR|RP11-66N24.4_ENST00000553985.1_RNA|RP11-66N24.4_ENST00000555446.1_RNA	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	769	GAE. {ECO:0000255|PROSITE- ProRule:PRU00093}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		TCTCCTGCACCGACTGGTGAA	0.562											OREG0022604	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001wkl.2		NaN																	0				ovary(1)	1						c.(2305-2307)TCG>TCA		adaptor-related protein complex 1, gamma 2		C		0,4406		0,0,2203	66.0	52.0	56.0		2307	-11.9	0.0	14		56	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	AP1G2	NM_003917.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		769/786	24029009	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8906				interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity	g.chr14:24029009C>T	AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.2307G>A	14.37:g.24029009C>T			OREG0022604	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	768	AP1G2_uc001wkj.2_Silent_p.S388S|AP1G2_uc001wkk.3_Silent_p.S697S|AP1G2_uc001wkn.2_Silent_p.S388S|uc001wko.1_5'Flank	p.S769S	NM_003917	NP_003908	O75843	AP1G2_HUMAN		GBM - Glioblastoma multiforme(265;0.00672)	22	2644	-	all_cancers(95;0.000251)		769			GAE.		D3DS51|O75504	Silent	SNP	ENST00000308724.5	37	c.2307G>A	CCDS9602.1																																																																																				0.562	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071812.4		NM_003917		9	39	0	0	0	0.008291	0	9	39		
NYNRIN	57523	broad.mit.edu	37	14	24884981	24884981	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr14:24884981C>T	ENST00000382554.3	+	9	4344	c.4026C>T	c.(4024-4026)tcC>tcT	p.S1342S		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1342					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TCTCCCTTTCCTTCTCCTGCT	0.607																																						uc001wpf.3		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(4024-4026)TCC>TCT		hypothetical protein LOC57523							129.0	136.0	134.0					14																	24884981		2068	4192	6260	SO:0001819	synonymous_variant	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24884981C>T	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.4026C>T	14.37:g.24884981C>T							p.S1342S	NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN			9	4344	+			1342					Q6P153|Q86TR3|Q9HAC4	Silent	SNP	ENST00000382554.3	37	c.4026C>T	CCDS45090.1																																																																																				0.607	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1				96	122	0	0	0	0.01441	0	96	122		
FOXA1	3169	broad.mit.edu	37	14	38061313	38061313	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr14:38061313C>T	ENST00000250448.2	-	2	737	c.676G>A	c.(676-678)Gac>Aac	p.D226N	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.D193N	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	226					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.D226N(2)|p.D226Y(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		ACGAAGCAGTCATTGAAGGAC	0.607																																						uc001wuf.2		NaN																	3	Substitution - Missense(3)		prostate(3)		0						c.(676-678)GAC>AAC		forkhead box A1							49.0	48.0	49.0					14																	38061313		2203	4300	6503	SO:0001583	missense	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061313C>T	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.676G>A	14.37:g.38061313C>T	ENSP00000250448:p.Asp226Asn					FOXA1_uc010tpz.1_Missense_Mutation_p.D193N	p.D226N	NM_004496	NP_004487	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	988	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		226			Fork-head.		B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	37	c.676G>A	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	C	31	5.067571	0.93898	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	D;D	0.95622	-3.76;-3.76	4.0	4.0	0.46444	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.85682	D	0.000000	D	0.97151	0.9069	M	0.81179	2.53	0.80722	D	1	D	0.57257	0.979	P	0.61658	0.892	D	0.97871	1.0286	10	0.87932	D	0	.	15.0053	0.71507	0.0:1.0:0.0:0.0	.	226	P55317	FOXA1_HUMAN	N	226;193	ENSP00000250448:D226N;ENSP00000440178:D193N	ENSP00000250448:D226N	D	-	1	0	FOXA1	37131064	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.547000	0.82146	2.057000	0.61298	0.400000	0.26472	GAC		0.607	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1				35	30	0	0	0	0.00874	0	35	30		
NIN	51199	broad.mit.edu	37	14	51224125	51224125	+	Missense_Mutation	SNP	A	A	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr14:51224125A>T	ENST00000382041.3	-	18	3813	c.3623T>A	c.(3622-3624)aTg>aAg	p.M1208K	NIN_ENST00000324330.9_Missense_Mutation_p.M1208K|NIN_ENST00000245441.5_Missense_Mutation_p.M1208K|NIN_ENST00000530997.2_Missense_Mutation_p.M1208K|NIN_ENST00000382043.4_Intron|NIN_ENST00000453196.1_Missense_Mutation_p.M1208K|NIN_ENST00000389868.3_Intron	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1208					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					ACATAACATCATTAGCTGTTC	0.418			T	PDGFRB	MPD																																	uc001wym.2		NaN		Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6						c.(3622-3624)ATG>AAG		ninein isoform 5							104.0	104.0	104.0					14																	51224125		2203	4300	6503	SO:0001583	missense	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51224125A>T	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.3623T>A	14.37:g.51224125A>T	ENSP00000371472:p.Met1208Lys					NIN_uc001wyi.2_Missense_Mutation_p.M1208K|NIN_uc001wyj.2_Intron|NIN_uc001wyk.2_Intron|NIN_uc010tqp.1_Missense_Mutation_p.M1214K|NIN_uc001wyo.2_Missense_Mutation_p.M1208K	p.M1208K	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN			18	3814	-	all_epithelial(31;0.00244)|Breast(41;0.127)		1208			Potential.		A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	c.3623T>A	CCDS32079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	4.366|4.366	0.067497|0.067497	0.08388|0.08388	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196|ENST00000530997;ENST00000389869;ENST00000530853	T;T;T;T|.	0.05925|.	3.64;3.37;3.37;3.37|.	5.93|5.93	-9.37|-9.37	0.00626|0.00626	.|.	1.402880|.	0.03813|.	N|.	0.266249|.	T|T	0.28764|0.28764	0.0713|0.0713	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.16802|.	0.001;0.0;0.0;0.019|.	B;B;B;B|.	0.17722|.	0.005;0.003;0.001;0.019|.	T|T	0.34650|0.34650	-0.9820|-0.9820	10|5	0.05959|.	T|.	0.93|.	1.7128|1.7128	0.9314|0.9314	0.01336|0.01336	0.2199:0.1775:0.3204:0.2823|0.2199:0.1775:0.3204:0.2823	.|.	1214;1208;1208;1208|.	Q8N4C6-5;C9J066;Q8N4C6;Q8N4C6-7|.	.;.;NIN_HUMAN;.|.	K|K	1208;1191;1214;1208;1208;1208|698	ENSP00000245441:M1208K;ENSP00000371472:M1208K;ENSP00000324210:M1208K;ENSP00000412391:M1208K|.	ENSP00000245441:M1208K|.	M|N	-|-	2|3	0|2	NIN|NIN	50293875|50293875	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.021000|0.021000	0.10359|0.10359	-0.443000|-0.443000	0.06862|0.06862	-1.155000|-1.155000	0.02822|0.02822	-0.376000|-0.376000	0.06991|0.06991	ATG|AAT		0.418	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2		NM_182946		51	80	0	0	0	0.01441	0	51	80		
KTN1	3895	broad.mit.edu	37	14	56107858	56107858	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr14:56107858G>C	ENST00000395314.3	+	17	2103	c.2035G>C	c.(2035-2037)Gat>Cat	p.D679H	KTN1_ENST00000438792.2_Missense_Mutation_p.D679H|KTN1_ENST00000395309.3_Missense_Mutation_p.D679H|KTN1_ENST00000416613.1_Missense_Mutation_p.D679H|KTN1_ENST00000413890.2_Missense_Mutation_p.D679H|KTN1_ENST00000395311.1_Missense_Mutation_p.D679H|KTN1_ENST00000395308.1_Missense_Mutation_p.D679H	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	679					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						TTATGTTAAAGATGATAAAAT	0.303			T	RET	papillary thryoid																																	uc001xcb.2		NaN		Dom	yes		14	14q22.1	3895	T	kinectin 1 (kinesin receptor)			E	RET		papillary thryoid		0				breast(3)|ovary(2)|lung(1)|central_nervous_system(1)	7						c.(2035-2037)GAT>CAT		kinectin 1 isoform a							42.0	44.0	43.0					14																	56107858		2200	4294	6494	SO:0001583	missense	3895				microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction		g.chr14:56107858G>C		CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.2035G>C	14.37:g.56107858G>C	ENSP00000378725:p.Asp679His					KTN1_uc001xce.2_Missense_Mutation_p.D679H|KTN1_uc001xcc.2_Missense_Mutation_p.D679H|KTN1_uc001xcd.2_Missense_Mutation_p.D679H|KTN1_uc010trb.1_Missense_Mutation_p.D679H|KTN1_uc001xcf.1_Missense_Mutation_p.D679H	p.D679H	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN			18	2337	+			679			Lumenal (Potential).|Potential.		B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Missense_Mutation	SNP	ENST00000395314.3	37	c.2035G>C	CCDS41957.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378618	0.61735	.	.	ENSG00000126777	ENST00000413890;ENST00000395309;ENST00000438792;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613	T;T;T;T;T;T;T	0.37235	1.21;1.29;1.22;1.29;1.21;1.21;1.29	5.17	5.17	0.71159	.	0.227204	0.30455	N	0.009584	T	0.58337	0.2115	M	0.69823	2.125	0.43408	D	0.995546	D;D;D;D	0.69078	0.994;0.997;0.984;0.994	D;D;P;D	0.65684	0.937;0.937;0.902;0.937	T	0.59467	-0.7449	10	0.48119	T	0.1	-7.1235	16.8539	0.86000	0.0:0.0:1.0:0.0	.	679;679;679;679	B4DZ88;Q86UP2-2;Q17RZ5;Q86UP2	.;.;.;KTN1_HUMAN	H	679	ENSP00000394992:D679H;ENSP00000378720:D679H;ENSP00000391964:D679H;ENSP00000378725:D679H;ENSP00000378719:D679H;ENSP00000378722:D679H;ENSP00000388807:D679H	ENSP00000378719:D679H	D	+	1	0	KTN1	55177611	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.007000	0.63984	2.400000	0.81607	0.591000	0.81541	GAT		0.303	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276912.2				7	14	0	0	0	0.001984	0	7	14		
C14orf37	145407	broad.mit.edu	37	14	58605192	58605192	+	Missense_Mutation	SNP	T	T	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr14:58605192T>G	ENST00000267485.7	-	2	1079	c.885A>C	c.(883-885)gaA>gaC	p.E295D	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	295						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						TCACTGTGACTTCTGGGGCTC	0.532																																						uc001xdc.2		NaN																	0					0						c.(883-885)GAA>GAC		hypothetical protein LOC145407 precursor							80.0	83.0	82.0					14																	58605192		2203	4300	6503	SO:0001583	missense	145407					integral to membrane	binding	g.chr14:58605192T>G		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.885A>C	14.37:g.58605192T>G	ENSP00000267485:p.Glu295Asp					C14orf37_uc010tro.1_Missense_Mutation_p.E333D|C14orf37_uc001xdd.2_Missense_Mutation_p.E295D|C14orf37_uc001xde.2_Missense_Mutation_p.E295D	p.E295D	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN			2	996	-			295			Extracellular (Potential).		A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP	ENST00000267485.7	37	c.885A>C	CCDS32089.1	.	.	.	.	.	.	.	.	.	.	T	13.01	2.108884	0.37242	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.34472	1.36	5.97	-2.99	0.05497	.	0.597033	0.16908	N	0.194589	T	0.21227	0.0511	L	0.47716	1.5	0.09310	N	1	B;B;B;B	0.18461	0.01;0.028;0.01;0.01	B;B;B;B	0.19946	0.016;0.027;0.016;0.016	T	0.17684	-1.0361	10	0.18710	T	0.47	-1.3432	2.818	0.05463	0.1241:0.3155:0.3754:0.185	.	333;295;295;295	B4DMS4;Q86TY3-2;A8K990;Q86TY3	.;.;.;CN037_HUMAN	D	295;333	ENSP00000267485:E295D	ENSP00000267485:E295D	E	-	3	2	C14orf37	57674945	0.000000	0.05858	0.153000	0.22517	0.993000	0.82548	-1.656000	0.01980	-0.074000	0.12820	0.533000	0.62120	GAA		0.532	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1		NM_001001872		44	69	0	0	0	0.00874	0	44	69		
C14orf37	145407	broad.mit.edu	37	14	58605935	58605935	+	Missense_Mutation	SNP	C	C	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr14:58605935C>A	ENST00000267485.7	-	2	336	c.142G>T	c.(142-144)Gat>Tat	p.D48Y	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	48						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						TTCATCTTATCGGACTGCCCT	0.478																																						uc001xdc.2		NaN																	0					0						c.(142-144)GAT>TAT		hypothetical protein LOC145407 precursor							273.0	269.0	270.0					14																	58605935		2203	4300	6503	SO:0001583	missense	145407					integral to membrane	binding	g.chr14:58605935C>A		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.142G>T	14.37:g.58605935C>A	ENSP00000267485:p.Asp48Tyr					C14orf37_uc010tro.1_Missense_Mutation_p.D86Y|C14orf37_uc001xdd.2_Missense_Mutation_p.D48Y|C14orf37_uc001xde.2_Missense_Mutation_p.D48Y	p.D48Y	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN			2	253	-			48			Extracellular (Potential).		A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP	ENST00000267485.7	37	c.142G>T	CCDS32089.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.350773	0.61183	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.35421	1.31	5.28	4.37	0.52481	.	0.495835	0.20308	N	0.094893	T	0.30324	0.0761	N	0.22421	0.69	0.09310	N	1	P;D;P;P	0.54772	0.943;0.968;0.943;0.943	B;P;B;B	0.45881	0.4;0.496;0.4;0.4	T	0.10154	-1.0642	10	0.66056	D	0.02	-6.3601	12.6032	0.56509	0.0:0.826:0.174:0.0	.	86;48;48;48	B4DMS4;Q86TY3-2;A8K990;Q86TY3	.;.;.;CN037_HUMAN	Y	48;86	ENSP00000267485:D48Y	ENSP00000267485:D48Y	D	-	1	0	C14orf37	57675688	0.015000	0.18098	0.158000	0.22627	0.126000	0.20510	0.195000	0.17155	1.180000	0.42898	0.655000	0.94253	GAT		0.478	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1		NM_001001872		62	106	1	0	1.42676e-28	0.01441	1.64553e-28	62	106		
ACOT2	10965	broad.mit.edu	37	14	74040235	74040235	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr14:74040235G>C	ENST00000238651.5	+	2	969	c.787G>C	c.(787-789)Gag>Cag	p.E263Q	ACOT2_ENST00000538782.1_Missense_Mutation_p.E66Q	NM_006821.5	NP_006812.3	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	263					acyl-CoA metabolic process (GO:0006637)|long-chain fatty acid metabolic process (GO:0001676)|very long-chain fatty acid metabolic process (GO:0000038)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		CAAGACCATGGAGACGCTCCA	0.488																																						uc001xon.3		NaN																	0				skin(1)	1						c.(787-789)GAG>CAG		acyl-CoA thioesterase 2							250.0	201.0	217.0					14																	74040235		2203	4299	6502	SO:0001583	missense	10965				acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	mitochondrion	carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding	g.chr14:74040235G>C	AY005822, AK001939	CCDS9816.1	14q24.3	2013-09-20			ENSG00000119673	ENSG00000119673		"""Acyl CoA thioesterases"""	18431	protein-coding gene	gene with protein product	"""mitochondrial acyl-CoA thioesterase 1"""	609972				16103133, 16940157	Standard	NM_006821		Approved	Mte1, ZAP128	uc001xon.5	P49753	OTTHUMG00000171608	ENST00000238651.5:c.787G>C	14.37:g.74040235G>C	ENSP00000238651:p.Glu263Gln					ACOT1_uc010tuc.1_Intron|ACOT2_uc001xom.2_Missense_Mutation_p.E66Q	p.E263Q	NM_006821	NP_006812	P49753	ACOT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)	2	960	+			263					Q3I5F8|Q53EK4|Q9NUX4	Missense_Mutation	SNP	ENST00000238651.5	37	c.787G>C	CCDS9816.1	.	.	.	.	.	.	.	.	.	.	G	0.128	-1.116499	0.01799	.	.	ENSG00000119673	ENST00000538782;ENST00000238651	T;T	0.42131	2.13;0.98	4.27	0.687	0.18020	.	0.693053	0.15253	N	0.272214	T	0.26484	0.0647	L	0.41824	1.3	0.09310	N	1	B;B	0.18863	0.031;0.031	B;B	0.11329	0.005;0.006	T	0.15607	-1.0431	10	0.22706	T	0.39	-2.8671	3.6793	0.08304	0.3565:0.4263:0.2172:0.0	.	263;66	P49753;B3KSA0	ACOT2_HUMAN;.	Q	66;263	ENSP00000440961:E66Q;ENSP00000238651:E263Q	ENSP00000238651:E263Q	E	+	1	0	ACOT2	73109988	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.352000	0.07701	0.239000	0.21243	0.411000	0.27672	GAG		0.488	ACOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414435.1		NM_006821		60	101	0	0	0	0.01441	0	60	101		
ANGEL1	23357	broad.mit.edu	37	14	77273074	77273074	+	Silent	SNP	G	G	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr14:77273074G>T	ENST00000251089.2	-	5	1177	c.1065C>A	c.(1063-1065)ggC>ggA	p.G355G	ANGEL1_ENST00000557179.1_5'Flank|ANGEL1_ENST00000554941.1_5'Flank	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	355										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		GTAGCTCCAAGCCAGGCCGGA	0.572																																						uc001xsv.2		NaN																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1063-1065)GGC>GGA		angel homolog 1							136.0	144.0	142.0					14																	77273074		2203	4300	6503	SO:0001819	synonymous_variant	23357							g.chr14:77273074G>T	AF111169	CCDS9852.1	14q24.3	2014-06-17		2005-08-04	ENSG00000013523	ENSG00000013523			19961	protein-coding gene	gene with protein product				KIAA0759		11943475	Standard	NM_015305		Approved	Ccr4e	uc001xsv.3	Q9UNK9	OTTHUMG00000171494	ENST00000251089.2:c.1065C>A	14.37:g.77273074G>T						ANGEL1_uc010tvf.1_Intron	p.G355G	NM_015305	NP_056120	Q9UNK9	ANGE1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)	5	1178	-			355					B4DWL7|O94859|Q8NCS9	Silent	SNP	ENST00000251089.2	37	c.1065C>A	CCDS9852.1																																																																																				0.572	ANGEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413712.2		NM_015305		108	130	1	0	1.73998e-50	0.01441	2.02705e-50	108	130		
NUTM1	256646	broad.mit.edu	37	15	34648800	34648800	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr15:34648800G>A	ENST00000333756.4	+	7	2662	c.2507G>A	c.(2506-2508)tGg>tAg	p.W836*	NUTM1_ENST00000438749.3_Nonsense_Mutation_p.W854*|NUTM1_ENST00000537011.1_Nonsense_Mutation_p.W864*	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	836						cytoplasm (GO:0005737)|nucleus (GO:0005634)											AGTGATCTGTGGGCAGAAGGT	0.517																																						uc001zif.2		NaN								T					BRD3|BRD4		lethal midline carcinoma	BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	0				midline_organs(25)|ovary(2)|lung(2)|skin(1)	30						c.(2506-2508)TGG>TAG		nuclear protein in testis							65.0	67.0	66.0					15																	34648800		2201	4298	6499	SO:0001587	stop_gained	256646					cytoplasm|nucleus		g.chr15:34648800G>A	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.2507G>A	15.37:g.34648800G>A	ENSP00000329448:p.Trp836*					C15orf55_uc010ucc.1_Nonsense_Mutation_p.W864*|C15orf55_uc010ucd.1_Nonsense_Mutation_p.W854*	p.W836*	NM_175741	NP_786883	Q86Y26	NUT_HUMAN		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)	7	2662	+		all_lung(180;2.78e-08)	836					B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Nonsense_Mutation	SNP	ENST00000333756.4	37	c.2507G>A	CCDS32190.1	.	.	.	.	.	.	.	.	.	.	G	40	8.099433	0.98654	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000333756	.	.	.	4.94	4.01	0.46588	.	0.697759	0.13333	N	0.395759	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.3364	0.38054	0.0997:0.0:0.9003:0.0	.	.	.	.	X	864;854;836	.	ENSP00000329448:W836X	W	+	2	0	C15orf55	32436092	0.998000	0.40836	0.914000	0.36105	0.009000	0.06853	1.343000	0.33930	2.574000	0.86865	0.555000	0.69702	TGG		0.517	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1		NM_175741		14	36	0	0	0	0.00499	0	14	36		
SLC30A4	7782	broad.mit.edu	37	15	45814250	45814250	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr15:45814250C>T	ENST00000261867.4	-	2	617	c.303G>A	c.(301-303)caG>caA	p.Q101Q	HMGN2P46_ENST00000409454.1_RNA|SLC30A4_ENST00000559667.1_5'UTR	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4	101					regulation of sequestering of zinc ion (GO:0061088)|response to toxic substance (GO:0009636)|zinc ion homeostasis (GO:0055069)|zinc ion transmembrane transport (GO:0071577)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		GTATCTCTCTCTGTTTGCTGC	0.478																																						uc001zvj.2		NaN																	0					0						c.(301-303)CAG>CAA		solute carrier family 30 (zinc transporter),							204.0	178.0	187.0					15																	45814250		2198	4298	6496	SO:0001819	synonymous_variant	7782				regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity	g.chr15:45814250C>T		CCDS10125.1	15q21.1	2013-05-22			ENSG00000104154	ENSG00000104154		"""Solute carriers"""	11015	protein-coding gene	gene with protein product		602095		ZNT4			Standard	NM_013309		Approved		uc001zvj.3	O14863	OTTHUMG00000131439	ENST00000261867.4:c.303G>A	15.37:g.45814250C>T						C15orf21_uc010beg.1_Intron|C15orf21_uc010beh.1_Intron|C15orf21_uc010bei.1_Intron|C15orf21_uc010bej.1_Intron|C15orf21_uc001zvm.1_Intron|C15orf21_uc001zvn.1_Intron	p.Q101Q	NM_013309	NP_037441	O14863	ZNT4_HUMAN		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)	2	615	-		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	101			Cytoplasmic (Potential).		Q8TC39	Silent	SNP	ENST00000261867.4	37	c.303G>A	CCDS10125.1																																																																																				0.478	SLC30A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254236.1				36	87	0	0	0	0.005524	0	36	87		
AP4E1	23431	broad.mit.edu	37	15	51289630	51289630	+	Missense_Mutation	SNP	T	T	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr15:51289630T>A	ENST00000261842.5	+	18	2560	c.2454T>A	c.(2452-2454)ttT>ttA	p.F818L	AP4E1_ENST00000560508.1_Missense_Mutation_p.F743L	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	818					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		GTTCTTCCTTTAGTTCTTTGT	0.353																																						uc001zyx.1		NaN																	0					0						c.(2452-2454)TTT>TTA		adaptor-related protein complex 4, epsilon 1							122.0	118.0	119.0					15																	51289630		2196	4294	6490	SO:0001583	missense	23431				intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity	g.chr15:51289630T>A	AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.2454T>A	15.37:g.51289630T>A	ENSP00000261842:p.Phe818Leu					AP4E1_uc010bex.1_RNA	p.F818L	NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN		all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)	18	2484	+			818					A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Missense_Mutation	SNP	ENST00000261842.5	37	c.2454T>A	CCDS32240.1	.	.	.	.	.	.	.	.	.	.	T	1.647	-0.514991	0.04200	.	.	ENSG00000081014	ENST00000261842	T	0.16196	2.36	5.47	0.114	0.14639	.	0.669124	0.14953	N	0.288809	T	0.07324	0.0185	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40608	-0.9554	10	0.13853	T	0.58	-2.8912	5.3039	0.15793	0.0:0.3547:0.1495:0.4958	.	818	Q9UPM8	AP4E1_HUMAN	L	818	ENSP00000261842:F818L	ENSP00000261842:F818L	F	+	3	2	AP4E1	49076922	0.196000	0.23350	0.015000	0.15790	0.825000	0.46686	-0.126000	0.10563	0.029000	0.15352	0.383000	0.25322	TTT		0.353	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1				4	13	0	0	0	0.000602	0	4	13		
SMAD3	4088	broad.mit.edu	37	15	67479786	67479786	+	Missense_Mutation	SNP	C	C	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr15:67479786C>A	ENST00000327367.4	+	8	1403	c.1093C>A	c.(1093-1095)Cag>Aag	p.Q365K	SMAD3_ENST00000439724.3_Missense_Mutation_p.Q321K|SMAD3_ENST00000540846.2_Missense_Mutation_p.Q260K|SMAD3_ENST00000537194.2_Missense_Mutation_p.Q170K	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	365	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell-cell junction organization (GO:0045216)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|embryonic pattern specification (GO:0009880)|endoderm development (GO:0007492)|evasion or tolerance of host defenses by virus (GO:0019049)|extrinsic apoptotic signaling pathway (GO:0097191)|gene expression (GO:0010467)|heart looping (GO:0001947)|immune response (GO:0006955)|immune system development (GO:0002520)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|lens fiber cell differentiation (GO:0070306)|liver development (GO:0001889)|mesoderm formation (GO:0001707)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)|nodal signaling pathway (GO:0038092)|osteoblast development (GO:0002076)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta3 production (GO:0032916)|primary miRNA processing (GO:0031053)|protein stabilization (GO:0050821)|regulation of binding (GO:0051098)|regulation of epithelial cell proliferation (GO:0050678)|regulation of immune response (GO:0050776)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|somitogenesis (GO:0001756)|T cell activation (GO:0042110)|thyroid gland development (GO:0030878)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transport (GO:0006810)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|bHLH transcription factor binding (GO:0043425)|chromatin DNA binding (GO:0031490)|co-SMAD binding (GO:0070410)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|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 factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		GGCTGTCTACCAGTTGACCCG	0.557																																						uc002aqj.2		NaN																	0				large_intestine(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5						c.(1093-1095)CAG>AAG		mothers against decapentaplegic homolog 3							133.0	118.0	124.0					15																	67479786		2201	4299	6500	SO:0001583	missense	4088				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding	g.chr15:67479786C>A	BC050743	CCDS10222.1, CCDS45288.1, CCDS53950.1, CCDS53951.1	15q21-q22	2006-11-06	2006-11-06	2004-05-26	ENSG00000166949	ENSG00000166949		"""SMADs"""	6769	protein-coding gene	gene with protein product		603109	"""MAD, mothers against decapentaplegic homolog 3 (Drosophila)"", ""SMAD, mothers against DPP homolog 3 (Drosophila)"""	MADH3		8774881, 8673135	Standard	NM_001145102		Approved	JV15-2, HsT17436	uc002aqj.3	P84022	OTTHUMG00000133230	ENST00000327367.4:c.1093C>A	15.37:g.67479786C>A	ENSP00000332973:p.Gln365Lys					SMAD3_uc010ujr.1_Missense_Mutation_p.Q260K|SMAD3_uc010ujs.1_Missense_Mutation_p.Q321K|SMAD3_uc010ujt.1_Missense_Mutation_p.Q170K	p.Q365K	NM_005902	NP_005893	P84022	SMAD3_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)	8	1391	+			365			MH2.		A8K4B6|B7Z4Z5|B7Z6M9|B7Z9Q2|F5H383|O09064|O09144|O14510|O35273|Q92940|Q93002|Q9GKR4	Missense_Mutation	SNP	ENST00000327367.4	37	c.1093C>A	CCDS10222.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126904	0.77549	.	.	ENSG00000166949	ENST00000327367;ENST00000535241;ENST00000540846;ENST00000439724;ENST00000537194	D;D;D;D	0.97114	-4.25;-4.25;-4.25;-4.25	5.71	5.71	0.89125	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.194237	0.47852	D	0.000208	D	0.95414	0.8511	L	0.50333	1.59	0.80722	D	1	B;B	0.33755	0.424;0.224	B;B	0.30105	0.111;0.07	D	0.94263	0.7504	10	0.51188	T	0.08	.	19.8575	0.96767	0.0:1.0:0.0:0.0	.	321;365	B7Z4Z5;P84022	.;SMAD3_HUMAN	K	365;365;260;321;170	ENSP00000332973:Q365K;ENSP00000437757:Q260K;ENSP00000401133:Q321K;ENSP00000445348:Q170K	ENSP00000332973:Q365K	Q	+	1	0	SMAD3	65266840	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.636000	0.83301	2.698000	0.92095	0.561000	0.74099	CAG		0.557	SMAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256967.2		NM_005902		59	34	1	0	6.60958e-23	0.01441	7.52274e-23	59	34		
ALPK3	57538	broad.mit.edu	37	15	85401422	85401422	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr15:85401422C>T	ENST00000258888.5	+	6	4226	c.4059C>T	c.(4057-4059)ctC>ctT	p.L1353L		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1353					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TGACAGGTCTCCCGGCAGCTA	0.642																																						uc002ble.2		NaN																	0				stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12						c.(4057-4059)CTC>CTT		alpha-kinase 3							16.0	21.0	19.0					15																	85401422		2202	4299	6501	SO:0001819	synonymous_variant	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85401422C>T	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.4059C>T	15.37:g.85401422C>T							p.L1353L	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		6	4226	+			1353					Q9P2L6	Silent	SNP	ENST00000258888.5	37	c.4059C>T	CCDS10333.1																																																																																				0.642	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1		NM_020778		3	14	0	0	0	0.000602	0	3	14		
USP31	57478	broad.mit.edu	37	16	23083506	23083506	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr16:23083506G>A	ENST00000219689.7	-	15	2347	c.2348C>T	c.(2347-2349)tCt>tTt	p.S783F	USP31_ENST00000567975.1_Missense_Mutation_p.S76F	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	747	DUSP 3. {ECO:0000255|PROSITE- ProRule:PRU00613}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		ACACAGGGAAGAACTTGTGGA	0.622																																						uc002dll.2		NaN																	0				ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10						c.(2347-2349)TCT>TTT		ubiquitin specific peptidase 31							31.0	34.0	33.0					16																	23083506		2197	4299	6496	SO:0001583	missense	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23083506G>A	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.2348C>T	16.37:g.23083506G>A	ENSP00000219689:p.Ser783Phe					USP31_uc002dlk.2_Missense_Mutation_p.S55F|USP31_uc010vca.1_Missense_Mutation_p.S86F|USP31_uc010bxm.2_Missense_Mutation_p.S71F	p.S783F	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	15	2348	-			783			Ser-rich.		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000219689.7	37	c.2348C>T	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686600	0.88639	.	.	ENSG00000103404	ENST00000219689;ENST00000381162	T	0.11277	2.79	5.84	5.84	0.93424	.	0.252609	0.33496	N	0.004855	T	0.36663	0.0975	M	0.75615	2.305	0.80722	D	1	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.91635	0.996;0.993;0.999	T	0.03278	-1.1053	10	0.87932	D	0	-16.4826	19.1415	0.93448	0.0:0.0:1.0:0.0	.	86;783;76	Q70CQ4-2;Q70CQ4;B3KS48	.;UBP31_HUMAN;.	F	783;86	ENSP00000219689:S783F	ENSP00000219689:S783F	S	-	2	0	USP31	22991007	1.000000	0.71417	0.994000	0.49952	0.779000	0.44077	9.427000	0.97472	2.758000	0.94735	0.655000	0.94253	TCT		0.622	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1		NM_020718		20	27	0	0	0	0.007413	0	20	27		
TNRC6A	27327	broad.mit.edu	37	16	24802570	24802570	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr16:24802570C>T	ENST00000395799.3	+	6	2736	c.2607C>T	c.(2605-2607)gcC>gcT	p.A869A	TNRC6A_ENST00000315183.7_Silent_p.A869A	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	869	Interaction with argonaute family proteins.|Sufficient for interaction with AGO1 and AGO4.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GGGGTGAGGCCAATAAGAAAT	0.463																																						uc002dmm.2		NaN																	0				ovary(2)	2						c.(2605-2607)GCC>GCT		trinucleotide repeat containing 6A							89.0	84.0	85.0					16																	24802570		2197	4300	6497	SO:0001819	synonymous_variant	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24802570C>T	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.2607C>T	16.37:g.24802570C>T						TNRC6A_uc010bxs.2_Silent_p.A616A|TNRC6A_uc010vcc.1_Silent_p.A616A|TNRC6A_uc002dmn.2_Silent_p.A616A|TNRC6A_uc002dmo.2_Silent_p.A616A	p.A869A	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	6	2721	+			869			Sufficient for interaction with EIF2C1 and EIF2C4.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Silent	SNP	ENST00000395799.3	37	c.2607C>T	CCDS10624.2																																																																																				0.463	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1		NM_020847		5	48	0	0	0	0.000602	0	5	48		
APOBR	55911	broad.mit.edu	37	16	28509168	28509168	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr16:28509168G>C	ENST00000431282.1	+	3	2789	c.2779G>C	c.(2779-2781)Gag>Cag	p.E927Q	CLN3_ENST00000567160.1_5'Flank|APOBR_ENST00000564831.1_Missense_Mutation_p.E936Q|CLN3_ENST00000569430.1_5'Flank|APOBR_ENST00000328423.5_Missense_Mutation_p.E927Q			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	927	Glu-rich.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						CAAGGAGACTGAGCCAGAAAG	0.662																																						uc002dqb.1		NaN																	0					0						c.(2779-2781)GAG>CAG		apolipoprotein B48 receptor							23.0	29.0	27.0					16																	28509168		2192	4298	6490	SO:0001583	missense	55911				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle		g.chr16:28509168G>C	AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.2779G>C	16.37:g.28509168G>C	ENSP00000416094:p.Glu927Gln					uc010vct.1_Intron|APOB48R_uc010byg.1_Missense_Mutation_p.E465Q	p.E927Q	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN			3	2789	+			927			Glu-rich.		H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Missense_Mutation	SNP	ENST00000431282.1	37	c.2779G>C		.	.	.	.	.	.	.	.	.	.	G	10.61	1.397559	0.25205	.	.	ENSG00000184730	ENST00000328423;ENST00000431282	T;T	0.61510	0.1;0.1	4.1	1.96	0.26148	.	.	.	.	.	T	0.34308	0.0893	N	0.19112	0.55	0.09310	N	1	P;P	0.42908	0.654;0.793	B;B	0.37508	0.153;0.252	T	0.09271	-1.0682	9	0.27082	T	0.32	-0.1164	4.1977	0.10452	0.1234:0.0:0.6456:0.231	.	927;927	Q0VD83;Q9NS13	APOBR_HUMAN;.	Q	927	ENSP00000327669:E927Q;ENSP00000416094:E927Q	ENSP00000327669:E927Q	E	+	1	0	APOBR	28416669	0.000000	0.05858	0.001000	0.08648	0.041000	0.13682	0.398000	0.20899	0.767000	0.33267	0.457000	0.33378	GAG		0.662	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_182804		7	10	0	0	0	0.001984	0	7	10		
CORO1A	11151	broad.mit.edu	37	16	30199868	30199868	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr16:30199868G>A	ENST00000219150.5	+	10	1557	c.1252G>A	c.(1252-1254)Gca>Aca	p.A418T	CORO1A_ENST00000570045.1_Missense_Mutation_p.A418T|CORO1A_ENST00000565497.1_Intron	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	418					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|calcium ion transport (GO:0006816)|cell-substrate adhesion (GO:0031589)|cellular component movement (GO:0006928)|cellular response to interleukin-4 (GO:0071353)|homeostasis of number of cells within a tissue (GO:0048873)|innate immune response (GO:0045087)|leukocyte chemotaxis (GO:0030595)|negative regulation of actin nucleation (GO:0051126)|phagocytosis (GO:0006909)|phagolysosome assembly (GO:0001845)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of T cell proliferation (GO:0042102)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|T cell homeostasis (GO:0043029)|uropod organization (GO:0032796)	actin filament (GO:0005884)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|phosphatidylinositol 3-kinase binding (GO:0043548)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						CAGGAGGGCAGCACCAGAGGC	0.657																																						uc002dww.2		NaN																	0					0						c.(1252-1254)GCA>ACA		coronin, actin binding protein, 1A																																				SO:0001583	missense	11151				cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity	g.chr16:30199868G>A	X89109	CCDS10673.1	16p11.2	2014-09-17	2001-11-28		ENSG00000102879	ENSG00000102879		"""Coronins"", ""WD repeat domain containing"""	2252	protein-coding gene	gene with protein product	"""Clabp TACO"""	605000	"""coronin, actin-binding protein, 1A"""			9778037	Standard	NM_007074		Approved	HCORO1, p57, coronin-1	uc002dww.3	P31146	OTTHUMG00000132148	ENST00000219150.5:c.1252G>A	16.37:g.30199868G>A	ENSP00000219150:p.Ala418Thr					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|CORO1A_uc010bzq.2_Missense_Mutation_p.A418T|CORO1A_uc010bzr.2_Intron|CORO1A_uc002dwx.2_Missense_Mutation_p.A312T|CORO1A_uc002dwy.1_3'UTR|LOC606724_uc002dwz.1_5'Flank	p.A418T	NM_007074	NP_009005	P31146	COR1A_HUMAN			10	1374	+			418					B2RBL1|Q2YD73	Missense_Mutation	SNP	ENST00000219150.5	37	c.1252G>A	CCDS10673.1	.	.	.	.	.	.	.	.	.	.	.	6.678	0.493718	0.12702	.	.	ENSG00000102879	ENST00000219150	T	0.60920	0.15	4.96	-4.54	0.03452	.	1.255650	0.05630	N	0.581613	T	0.31420	0.0796	N	0.04297	-0.235	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.19192	-1.0313	10	0.32370	T	0.25	-7.456	9.0167	0.36175	0.6849:0.1237:0.1914:0.0	.	418	P31146	COR1A_HUMAN	T	418	ENSP00000219150:A418T	ENSP00000219150:A418T	A	+	1	0	CORO1A	30107369	0.000000	0.05858	0.000000	0.03702	0.837000	0.47467	-0.582000	0.05814	-0.661000	0.05345	-0.258000	0.10820	GCA		0.657	CORO1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255195.2		NM_007074		21	16	0	0	0	0.012319	0	21	16		
POLR2C	5432	broad.mit.edu	37	16	57504205	57504205	+	Missense_Mutation	SNP	T	T	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr16:57504205T>C	ENST00000219252.5	+	8	960	c.622T>C	c.(622-624)Tac>Cac	p.Y208H		NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide C, 33kDa	208					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						AAAGAGTGAGTACTCGGAGCT	0.547																																						uc002elt.1		NaN																	0					0						c.(622-624)TAC>CAC		DNA directed RNA polymerase II polypeptide C							63.0	56.0	59.0					16																	57504205		2198	4300	6498	SO:0001583	missense	5432				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity	g.chr16:57504205T>C		CCDS10782.1	16q13-q21	2013-01-21	2002-08-29		ENSG00000102978	ENSG00000102978		"""RNA polymerase subunits"""	9189	protein-coding gene	gene with protein product	"""RNA polymerase II subunit 3"""	180663	"""polymerase (RNA) II (DNA directed) polypeptide C (33kD)"""			8034326	Standard	NM_032940		Approved	RPB3	uc002elt.1	P19387	OTTHUMG00000133464	ENST00000219252.5:c.622T>C	16.37:g.57504205T>C	ENSP00000219252:p.Tyr208His						p.Y208H	NM_032940	NP_116558	P19387	RPB3_HUMAN			8	708	+			208					O15161	Missense_Mutation	SNP	ENST00000219252.5	37	c.622T>C	CCDS10782.1	.	.	.	.	.	.	.	.	.	.	T	16.85	3.237644	0.58886	.	.	ENSG00000102978	ENST00000219252	D	0.82344	-1.6	5.79	5.79	0.91817	DNA-directed RNA polymerase, RpoA/D/Rpb3-type (1);DNA-directed RNA polymerase, dimerisation (1);DNA-directed RNA polymerase, RBP11-like (1);	0.000000	0.85682	D	0.000000	T	0.81187	0.4770	L	0.55481	1.735	0.80722	D	1	B	0.19935	0.04	B	0.26969	0.075	T	0.76903	-0.2787	10	0.40728	T	0.16	.	15.3166	0.74085	0.0:0.0:0.0:1.0	.	208	P19387	RPB3_HUMAN	H	208	ENSP00000219252:Y208H	ENSP00000219252:Y208H	Y	+	1	0	POLR2C	56061706	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.964000	0.87933	2.207000	0.71202	0.533000	0.62120	TAC		0.547	POLR2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257340.3		NM_032940		10	14	0	0	0	0.008291	0	10	14		
CIRH1A	84916	broad.mit.edu	37	16	69199282	69199282	+	Silent	SNP	T	T	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr16:69199282T>C	ENST00000314423.7	+	15	1863	c.1686T>C	c.(1684-1686)gaT>gaC	p.D562D	CIRH1A_ENST00000563094.1_Silent_p.D562D|CIRH1A_ENST00000352319.4_Silent_p.D447D			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	562					maturation of SSU-rRNA (GO:0030490)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		AGTATACAGATTGGAGCCGGA	0.488																																					Melanoma(69;1156 1278 4951 8715 52012)	uc002ews.3		NaN																	0					0						c.(1684-1686)GAT>GAC		cirhin							117.0	105.0	109.0					16																	69199282		2198	4300	6498	SO:0001819	synonymous_variant	84916					nucleolus	protein binding	g.chr16:69199282T>C	AB075868	CCDS10872.1	16q22	2014-04-07			ENSG00000141076	ENSG00000141076		"""WD repeat domain containing"""	1983	protein-coding gene	gene with protein product	"""UTP4, small subunit (SSU) processome component, homolog (yeast)"""	607456				10820129, 20385600	Standard	NM_032830		Approved	NAIC, FLJ14728, KIAA1988, TEX292, CIRHIN, UTP4	uc002ews.4	Q969X6	OTTHUMG00000137570	ENST00000314423.7:c.1686T>C	16.37:g.69199282T>C						CIRH1A_uc002ewr.2_Silent_p.D562D|CIRH1A_uc002ewt.3_Silent_p.D479D|CIRH1A_uc010cfi.2_Silent_p.D364D	p.D562D	NM_032830	NP_116219	Q969X6	CIR1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.125)	15	1782	+			562			WD 11.		Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6	Silent	SNP	ENST00000314423.7	37	c.1686T>C	CCDS10872.1																																																																																				0.488	CIRH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268950.2		NM_032830		32	44	0	0	0	0.003755	0	32	44		
RFWD3	55159	broad.mit.edu	37	16	74695239	74695239	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr16:74695239G>A	ENST00000361070.4	-	2	206	c.109C>T	c.(109-111)Cag>Tag	p.Q37*	RFWD3_ENST00000571750.1_Nonsense_Mutation_p.Q37*	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	37					DNA repair (GO:0006281)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						GGAACAGGCTGGAGGAGGGCT	0.587																																						uc002fda.2		NaN																	0				lung(2)|breast(1)	3						c.(109-111)CAG>TAG		ring finger and WD repeat domain 3							101.0	101.0	101.0					16																	74695239		2198	4299	6497	SO:0001587	stop_gained	55159				DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:74695239G>A	AK001382	CCDS32486.1	16q22.3	2013-01-09						"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	25539	protein-coding gene	gene with protein product		614151				21504906	Standard	XM_005256021		Approved	FLJ10520, RNF201	uc002fda.3	Q6PCD5		ENST00000361070.4:c.109C>T	16.37:g.74695239G>A	ENSP00000354361:p.Gln37*					RFWD3_uc010cgq.2_Nonsense_Mutation_p.Q37*	p.Q37*	NM_018124	NP_060594	Q6PCD5	RFWD3_HUMAN			2	207	-			37					A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	Nonsense_Mutation	SNP	ENST00000361070.4	37	c.109C>T	CCDS32486.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.701383	0.68501	.	.	ENSG00000168411	ENST00000361070;ENST00000444004	.	.	.	3.51	3.51	0.40186	.	0.264886	0.20139	N	0.098411	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	10.8445	0.46735	0.0:0.0:1.0:0.0	.	.	.	.	X	37	.	ENSP00000354361:Q37X	Q	-	1	0	RFWD3	73252740	0.364000	0.24997	0.012000	0.15200	0.013000	0.08279	3.320000	0.51991	2.301000	0.77427	0.655000	0.94253	CAG		0.587	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436506.2		NM_018124		93	124	0	0	0	0.01441	0	93	124		
CLEC3A	10143	broad.mit.edu	37	16	78064707	78064707	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr16:78064707G>C	ENST00000575655.1	+	3	644	c.563G>C	c.(562-564)aGa>aCa	p.R188T	CLEC3A_ENST00000565808.1_3'UTR|RP11-281J9.2_ENST00000563114.1_RNA|CLEC3A_ENST00000299642.4_Missense_Mutation_p.R197T	NM_005752.4	NP_005743.4	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	188	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				skeletal system development (GO:0001501)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						AGCAGCAAGAGATACATATGC	0.483																																						uc002ffh.3		NaN																	0					0						c.(562-564)AGA>ACA		C-type lectin domain family 3 member A							89.0	89.0	89.0					16																	78064707		2197	4300	6497	SO:0001583	missense	10143				skeletal system development	extracellular region	sugar binding	g.chr16:78064707G>C	AF077345	CCDS10927.1, CCDS10927.2	16q23	2008-02-05	2005-02-09	2005-02-11	ENSG00000166509	ENSG00000166509		"""C-type lectin domain containing"""	2052	protein-coding gene	gene with protein product		613588	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 1 (cartilage-derived)"""	CLECSF1		10524194	Standard	NM_001244755		Approved		uc002ffh.5	O75596	OTTHUMG00000137620	ENST00000575655.1:c.563G>C	16.37:g.78064707G>C	ENSP00000460682:p.Arg188Thr						p.R188T	NM_005752	NP_005743	O75596	CLC3A_HUMAN			3	644	+			188			C-type lectin.		B2R8C4|Q3SX91|Q6UXF5	Missense_Mutation	SNP	ENST00000575655.1	37	c.563G>C		.	.	.	.	.	.	.	.	.	.	G	10.47	1.360577	0.24598	.	.	ENSG00000166509	ENST00000299642	.	.	.	6.07	3.05	0.35203	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.133897	0.64402	D	0.000002	T	0.48624	0.1510	L	0.60957	1.885	0.34725	D	0.729116	B	0.16603	0.018	B	0.15870	0.014	T	0.52358	-0.8586	9	0.19147	T	0.46	-21.0226	9.7199	0.40297	0.2695:0.0:0.7305:0.0	.	188	O75596	CLC3A_HUMAN	T	188	.	ENSP00000299642:R188T	R	+	2	0	CLEC3A	76622208	1.000000	0.71417	0.997000	0.53966	0.420000	0.31355	3.638000	0.54332	0.904000	0.36572	-0.150000	0.13652	AGA		0.483	CLEC3A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_005752		7	41	0	0	0	0.00308	0	7	41		
IL17C	27189	broad.mit.edu	37	16	88706293	88706293	+	Missense_Mutation	SNP	A	A	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr16:88706293A>C	ENST00000244241.4	+	3	456	c.407A>C	c.(406-408)gAt>gCt	p.D136A		NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN	interleukin 17C	136					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|neutrophil differentiation (GO:0030223)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		GGCTGTATCGATGCACGGACG	0.687																																						uc002fla.2		NaN																	0					0						c.(406-408)GAT>GCT		interleukin 17C precursor							26.0	32.0	30.0					16																	88706293		2106	4204	6310	SO:0001583	missense	27189				cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response	extracellular space|soluble fraction	cytokine activity	g.chr16:88706293A>C	AF152099	CCDS42217.1	16q24	2011-07-14			ENSG00000124391	ENSG00000124391		"""Interleukins and interleukin receptors"""	5983	protein-coding gene	gene with protein product		604628				10639155	Standard	NM_013278		Approved	IL-17C, CX2, IL-21, MGC126884, MGC138401	uc002fla.3	Q9P0M4		ENST00000244241.4:c.407A>C	16.37:g.88706293A>C	ENSP00000244241:p.Asp136Ala						p.D136A	NM_013278	NP_037410	Q9P0M4	IL17C_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0477)	3	456	+			136					Q3MIG8|Q9HC75	Missense_Mutation	SNP	ENST00000244241.4	37	c.407A>C	CCDS42217.1	.	.	.	.	.	.	.	.	.	.	A	9.603	1.129234	0.21041	.	.	ENSG00000124391	ENST00000244241	T	0.54866	0.55	4.45	2.08	0.27032	.	0.369464	0.23532	N	0.047162	T	0.37265	0.0997	L	0.42245	1.32	0.09310	N	1	B	0.34181	0.44	B	0.35182	0.197	T	0.13150	-1.0520	10	0.15066	T	0.55	-12.0946	5.6061	0.17381	0.7956:0.0:0.2044:0.0	.	136	Q9P0M4	IL17C_HUMAN	A	136	ENSP00000244241:D136A	ENSP00000244241:D136A	D	+	2	0	IL17C	87233794	0.001000	0.12720	0.146000	0.22360	0.001000	0.01503	0.231000	0.17872	0.699000	0.31761	0.459000	0.35465	GAT		0.687	IL17C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422575.1		NM_013278		11	9	0	0	0	0.008291	0	11	9		
ZNF778	197320	broad.mit.edu	37	16	89294114	89294114	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr16:89294114G>C	ENST00000433976.2	+	6	1666	c.1334G>C	c.(1333-1335)gGa>gCa	p.G445A	ZNF778_ENST00000306502.6_Missense_Mutation_p.G403A|RP11-46C24.6_ENST00000563182.1_RNA	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	445					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		ACTCACACTGGAGAGAAACCA	0.493																																						uc002fmv.2		NaN																	0					0						c.(1333-1335)GGA>GCA		zinc finger protein 778							89.0	93.0	92.0					16																	89294114		2192	4299	6491	SO:0001583	missense	197320				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89294114G>C	AK056437	CCDS45550.1, CCDS73928.1	16q24.3	2014-09-17			ENSG00000170100	ENSG00000170100		"""Zinc fingers, C2H2-type"", ""-"""	26479	protein-coding gene	gene with protein product							Standard	NM_182531		Approved	FLJ31875	uc021tms.1	Q96MU6		ENST00000433976.2:c.1334G>C	16.37:g.89294114G>C	ENSP00000405289:p.Gly445Ala					ZNF778_uc010vpf.1_Intron|ZNF778_uc002fmw.1_Missense_Mutation_p.G403A|ZNF778_uc010vpg.1_Missense_Mutation_p.G208A	p.G445A	NM_182531	NP_872337	Q96MU6	ZN778_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0269)	6	1673	+			445					Q08AG0	Missense_Mutation	SNP	ENST00000433976.2	37	c.1334G>C	CCDS45550.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047553	0.75846	.	.	ENSG00000170100	ENST00000433976;ENST00000306502	T;T	0.26373	1.74;1.74	1.13	1.13	0.20643	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44350	0.1289	M	0.65975	2.015	0.29850	N	0.828495	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	T	0.33548	-0.9864	9	0.66056	D	0.02	.	8.1979	0.31407	0.0:0.0:1.0:0.0	.	403;445	Q96MU6-2;Q96MU6	.;ZN778_HUMAN	A	445;403	ENSP00000405289:G445A;ENSP00000305203:G403A	ENSP00000305203:G403A	G	+	2	0	ZNF778	87821615	0.998000	0.40836	0.323000	0.25347	0.656000	0.38851	3.954000	0.56708	0.927000	0.37143	0.558000	0.71614	GGA		0.493	ZNF778-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430383.1		NM_182531		52	63	0	0	0	0.01441	0	52	63		
ANKRD11	29123	broad.mit.edu	37	16	89346334	89346334	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr16:89346334C>G	ENST00000301030.4	-	9	7076	c.6616G>C	c.(6616-6618)Gag>Cag	p.E2206Q	ANKRD11_ENST00000378330.2_Missense_Mutation_p.E2206Q	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2206	Pro-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CCTGAGGGCTCAGGCTCGAGC	0.672																																						uc002fmx.1		NaN																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(6616-6618)GAG>CAG		ankyrin repeat domain 11							12.0	14.0	13.0					16																	89346334		2148	4212	6360	SO:0001583	missense	29123					nucleus		g.chr16:89346334C>G	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.6616G>C	16.37:g.89346334C>G	ENSP00000301030:p.Glu2206Gln					ANKRD11_uc002fmy.1_Missense_Mutation_p.E2206Q|ANKRD11_uc002fnc.1_Missense_Mutation_p.E2206Q|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.E2163Q	p.E2206Q	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	7077	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	2206			Pro-rich.		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.6616G>C	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	c	11.25	1.582030	0.28180	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.38401	1.14;1.14	5.5	2.49	0.30216	.	0.316812	0.19658	U	0.109050	T	0.23766	0.0575	L	0.38838	1.175	0.09310	N	0.999999	B	0.12630	0.006	B	0.09377	0.004	T	0.20107	-1.0285	10	0.21540	T	0.41	.	6.8602	0.24062	0.0:0.5795:0.2698:0.1508	.	2206	Q6UB99	ANR11_HUMAN	Q	2206	ENSP00000301030:E2206Q;ENSP00000367581:E2206Q	ENSP00000301030:E2206Q	E	-	1	0	ANKRD11	87873835	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	0.220000	0.17660	0.291000	0.22468	-0.401000	0.06369	GAG		0.672	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3		NM_013275		8	18	0	0	0	0.004482	0	8	18		
ANKRD11	29123	broad.mit.edu	37	16	89357082	89357082	+	Silent	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr16:89357082G>A	ENST00000301030.4	-	6	1012	c.552C>T	c.(550-552)atC>atT	p.I184I	ANKRD11_ENST00000378330.2_Silent_p.I184I	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	184					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGAGCTCTTTGATGCGCCGGG	0.622																																						uc002fmx.1		NaN																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(550-552)ATC>ATT		ankyrin repeat domain 11							61.0	64.0	63.0					16																	89357082		2198	4300	6498	SO:0001819	synonymous_variant	29123					nucleus		g.chr16:89357082G>A	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.552C>T	16.37:g.89357082G>A						ANKRD11_uc002fmy.1_Silent_p.I184I|ANKRD11_uc002fnc.1_Silent_p.I184I|ANKRD11_uc002fnd.2_Silent_p.I150I|ANKRD11_uc002fne.2_Silent_p.I150I|ANKRD11_uc002fnb.1_Silent_p.I141I	p.I184I	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	6	1013	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	184			ANK 1.		Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	c.552C>T	CCDS32513.1																																																																																				0.622	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3		NM_013275		40	59	0	0	0	0.01441	0	40	59		
ANKRD11	29123	broad.mit.edu	37	16	89357086	89357086	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr16:89357086C>T	ENST00000301030.4	-	6	1008	c.548G>A	c.(547-549)cGc>cAc	p.R183H	ANKRD11_ENST00000378330.2_Missense_Mutation_p.R183H	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	183					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CTCTTTGATGCGCCGGGCGTC	0.627																																						uc002fmx.1		NaN																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(547-549)CGC>CAC		ankyrin repeat domain 11							62.0	64.0	63.0					16																	89357086		2198	4300	6498	SO:0001583	missense	29123					nucleus		g.chr16:89357086C>T	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.548G>A	16.37:g.89357086C>T	ENSP00000301030:p.Arg183His					ANKRD11_uc002fmy.1_Missense_Mutation_p.R183H|ANKRD11_uc002fnc.1_Missense_Mutation_p.R183H|ANKRD11_uc002fnd.2_Missense_Mutation_p.R149H|ANKRD11_uc002fne.2_Missense_Mutation_p.R149H|ANKRD11_uc002fnb.1_Missense_Mutation_p.R140H	p.R183H	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	6	1009	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	183			ANK 1.		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.548G>A	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	C	34	5.342279	0.95783	.	.	ENSG00000167522	ENST00000301030;ENST00000378330;ENST00000378332	T;T	0.64085	-0.08;-0.08	5.45	5.45	0.79879	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.71978	0.3404	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.973;0.997	T	0.74487	-0.3649	10	0.72032	D	0.01	.	19.6454	0.95775	0.0:1.0:0.0:0.0	.	183;197;183	A8K4M9;Q59GC3;Q6UB99	.;.;ANR11_HUMAN	H	183;183;197	ENSP00000301030:R183H;ENSP00000367581:R183H	ENSP00000301030:R183H	R	-	2	0	ANKRD11	87884587	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.810000	0.62598	2.714000	0.92807	0.561000	0.74099	CGC		0.627	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3		NM_013275		41	59	0	0	0	0.01441	0	41	59		
FANCA	2175	broad.mit.edu	37	16	89857865	89857865	+	Silent	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr16:89857865G>C	ENST00000389301.3	-	14	1335	c.1305C>G	c.(1303-1305)cgC>cgG	p.R435R	FANCA_ENST00000568369.1_Silent_p.R435R	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	435			R -> C (in FA). {ECO:0000269|PubMed:9371798}.		DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GTGCTGCCTGGCGCACAACCA	0.552			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc002fou.1		NaN	yes	Rec		Fanconi anaemia A	16	16q24.3	2175	D|Mis|N|F|S	"""Fanconi anemia, complementation group A"""			L		AML|leukemia			0				ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6						c.(1303-1305)CGC>CGG	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group A isoform							58.0	49.0	52.0					16																	89857865		2198	4300	6498	SO:0001819	synonymous_variant	2175	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	g.chr16:89857865G>C	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.1305C>G	16.37:g.89857865G>C						FANCA_uc010vpn.1_Silent_p.R435R	p.R435R	NM_000135	NP_000126	O15360	FANCA_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.028)	14	1347	-		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)	435		R -> C (in FA).			A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Silent	SNP	ENST00000389301.3	37	c.1305C>G	CCDS32515.1																																																																																				0.552	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1				18	18	0	0	0	0.007413	0	18	18		
MYO1C	4641	broad.mit.edu	37	17	1381474	1381474	+	Silent	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr17:1381474G>A	ENST00000575158.1	-	12	1379	c.1203C>T	c.(1201-1203)ttC>ttT	p.F401F	MYO1C_ENST00000359786.5_Silent_p.F436F|MYO1C_ENST00000545534.2_Silent_p.F412F|MYO1C_ENST00000438665.2_Silent_p.F417F|MYO1C_ENST00000361007.2_Silent_p.F401F|MYO1C_ENST00000573198.1_5'Flank			Q12965	MYO1E_HUMAN	myosin IC	403	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AATTGATGCAGAACTGCTCAA	0.582																																						uc002fsp.2		NaN																	0					0						c.(1306-1308)TTC>TTT		myosin IC isoform a							68.0	63.0	65.0					17																	1381474		2203	4300	6503	SO:0001819	synonymous_variant	4641				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:1381474G>A	X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"""Myosins / Myosin superfamily : Class I"""	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.1203C>T	17.37:g.1381474G>A						MYO1C_uc002fsn.2_Silent_p.F417F|MYO1C_uc002fso.2_Silent_p.F401F|MYO1C_uc010vqj.1_Silent_p.F401F|MYO1C_uc010vqk.1_Silent_p.F412F	p.F436F	NM_001080779	NP_001074248	O00159	MYO1C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	12	1528	-			436			Myosin head-like.		Q14778	Silent	SNP	ENST00000575158.1	37	c.1308C>T	CCDS11003.1																																																																																				0.582	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438694.2				32	14	0	0	0	0.009535	0	32	14		
TP53	7157	broad.mit.edu	37	17	7578478	7578478	+	Missense_Mutation	SNP	G	G	T	rs137852790|rs137852791		TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr17:7578478G>T	ENST00000269305.4	-	5	641	c.452C>A	c.(451-453)cCc>cAc	p.P151H	TP53_ENST00000413465.2_Missense_Mutation_p.P151H|TP53_ENST00000359597.4_Missense_Mutation_p.P151H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.P151H|TP53_ENST00000445888.2_Missense_Mutation_p.P151H|TP53_ENST00000420246.2_Missense_Mutation_p.P151H	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	151	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874). {ECO:0000269|PubMed:7682763}.|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P151H(31)|p.P151R(9)|p.0?(8)|p.P151L(7)|p.T150fs*16(6)|p.?(5)|p.P58H(2)|p.P19H(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.P153fs*28(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P58R(1)|p.Q144_G154del11(1)|p.P19R(1)|p.Q144fs*16(1)|p.P152fs*14(1)|p.P151fs*30(1)|p.T18fs*16(1)|p.T150_P151delTP(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)	GCCGGGCGGGGGTGTGGAATC	0.607		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		90	Substitution - Missense(53)|Deletion - Frameshift(14)|Deletion - In frame(8)|Whole gene deletion(8)|Unknown(5)|Insertion - Frameshift(2)	p.P151S(61)|p.P151H(25)|p.P151T(13)|p.P151P(12)|p.P151A(8)|p.0?(7)|p.P151fs*30(7)|p.P151L(6)|p.P151R(6)|p.T150fs*16(3)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.P153fs*28(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.P152fs*14(1)|p.T150_P151delTP(1)	lung(17)|large_intestine(13)|ovary(10)|skin(8)|oesophagus(8)|breast(6)|stomach(5)|haematopoietic_and_lymphoid_tissue(5)|central_nervous_system(4)|bone(4)|upper_aerodigestive_tract(3)|soft_tissue(2)|urinary_tract(2)|liver(2)|vulva(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(451-453)CCC>CAC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							54.0	55.0	55.0					17																	7578478		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.chr17:7578478G>T	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.452C>A	17.37:g.7578478G>T	ENSP00000269305:p.Pro151His	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.P151H|TP53_uc002gih.2_Missense_Mutation_p.P151H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.P19H|TP53_uc010cng.1_Missense_Mutation_p.P19H|TP53_uc002gii.1_Missense_Mutation_p.P19H|TP53_uc010cnh.1_Missense_Mutation_p.P151H|TP53_uc010cni.1_Missense_Mutation_p.P151H|TP53_uc002gij.2_Missense_Mutation_p.P151H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.P58H|TP53_uc002gio.2_Missense_Mutation_p.P19H|TP53_uc010vug.1_Missense_Mutation_p.P112H	p.P151H	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	646	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	151		P -> R (in sporadic cancers; somatic mutation).|P -> A (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|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.452C>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.040562	0.55003	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99887	-7.53;-7.53;-7.53;-7.53;-7.53;-7.53;-7.53;-7.53;-7.53	5.59	4.63	0.57726	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110207	0.64402	D	0.000007	D	0.99891	0.9948	M	0.91406	3.205	0.53688	D	0.999972	D;P;D;P;P;P;D	0.89917	0.99;0.807;1.0;0.793;0.948;0.84;1.0	P;P;D;P;P;P;D	0.97110	0.84;0.754;0.995;0.625;0.841;0.868;1.0	D	0.96236	0.9172	10	0.87932	D	0	-14.1156	12.4691	0.55777	0.0812:0.0:0.9188:0.0	.	112;151;151;58;151;151;151	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	151;151;151;151;151;151;140;58;19;58;19;151	ENSP00000410739:P151H;ENSP00000352610:P151H;ENSP00000269305:P151H;ENSP00000398846:P151H;ENSP00000391127:P151H;ENSP00000391478:P151H;ENSP00000425104:P19H;ENSP00000423862:P58H;ENSP00000424104:P151H	ENSP00000269305:P151H	P	-	2	0	TP53	7519203	1.000000	0.71417	0.974000	0.42286	0.058000	0.15608	6.711000	0.74675	1.515000	0.48885	0.655000	0.94253	CCC		0.607	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		23	8	1	0	7.92952e-12	0.003954	8.5738e-12	23	8		
MYH3	4621	broad.mit.edu	37	17	10542927	10542927	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr17:10542927C>T	ENST00000583535.1	-	23	2962	c.2875G>A	c.(2875-2877)Gag>Aag	p.E959K	MYH3_ENST00000226209.7_Missense_Mutation_p.E959K	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	959					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						AGGGTCAACTCAAGGTCATCA	0.453																																						uc002gmq.1		NaN																	0				ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(2875-2877)GAG>AAG		myosin, heavy chain 3, skeletal muscle,							319.0	299.0	306.0					17																	10542927		2203	4300	6503	SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10542927C>T		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.2875G>A	17.37:g.10542927C>T	ENSP00000464317:p.Glu959Lys						p.E959K	NM_002470	NP_002461	P11055	MYH3_HUMAN			22	2952	-			959			Potential.		Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	c.2875G>A	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.906944	0.92107	.	.	ENSG00000109063	ENST00000226209	D	0.96073	-3.9	4.58	4.58	0.56647	.	.	.	.	.	D	0.98194	0.9403	M	0.93763	3.455	0.50171	D	0.999857	D	0.76494	0.999	D	0.65987	0.94	D	0.99379	1.0922	9	0.87932	D	0	.	17.9347	0.89009	0.0:1.0:0.0:0.0	.	959	P11055	MYH3_HUMAN	K	959	ENSP00000226209:E959K	ENSP00000226209:E959K	E	-	1	0	MYH3	10483652	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.606000	0.82863	2.522000	0.85027	0.655000	0.94253	GAG		0.453	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2		NM_002470		127	56	0	0	0	0.01441	0	127	56		
NEK8	284086	broad.mit.edu	37	17	27065197	27065197	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr17:27065197G>A	ENST00000268766.6	+	8	1190	c.1156G>A	c.(1156-1158)Gag>Aag	p.E386K	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	386					organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					GCGTTTCCTGGAGGGCCAGTC	0.657																																					NSCLC(6;19 293 14866 25253 49845)	uc002hcp.2		NaN																	0				stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1)	6						c.(1156-1158)GAG>AAG		NIMA-related kinase 8							98.0	78.0	85.0					17																	27065197		2203	4300	6503	SO:0001583	missense	284086					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:27065197G>A	AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"""NIMA (never in mitosis gene a)- related kinase 8"""			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.1156G>A	17.37:g.27065197G>A	ENSP00000268766:p.Glu386Lys						p.E386K	NM_178170	NP_835464	Q86SG6	NEK8_HUMAN			8	1156	+	Lung NSC(42;0.0158)		386					A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Missense_Mutation	SNP	ENST00000268766.6	37	c.1156G>A	CCDS32597.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.574838|5.574838	0.96553|0.96553	.|.	.|.	ENSG00000160602|ENSG00000160602	ENST00000268766|ENST00000543014	T|T	0.70869|0.75821	-0.52|-0.97	5.69|5.69	4.72|4.72	0.59763|0.59763	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83257|0.83257	0.5215|0.5215	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	D|.	0.65815|.	0.995|.	P|.	0.59703|.	0.862|.	D|D	0.85534|0.85534	0.1211|0.1211	10|7	0.66056|0.87932	D|D	0.02|0	.|.	13.7616|13.7616	0.62971|0.62971	0.0736:0.0:0.9264:0.0|0.0736:0.0:0.9264:0.0	.|.	386|.	Q86SG6|.	NEK8_HUMAN|.	K|E	386|439	ENSP00000268766:E386K|ENSP00000465859:G439E	ENSP00000268766:E386K|ENSP00000446066:G439E	E|G	+|+	1|2	0|0	NEK8|NEK8	24089324|24089324	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.450000|9.450000	0.97607|0.97607	1.420000|1.420000	0.47138|0.47138	0.655000|0.655000	0.94253|0.94253	GAG|GGA		0.657	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446467.2				16	31	0	0	0	0.007413	0	16	31		
NEK8	284086	broad.mit.edu	37	17	27065214	27065214	+	Silent	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr17:27065214G>A	ENST00000268766.6	+	8	1207	c.1173G>A	c.(1171-1173)gtG>gtA	p.V391V	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	391					organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.V402V(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					AGTCGGGTGTGACCATCAAGC	0.642																																					NSCLC(6;19 293 14866 25253 49845)	uc002hcp.2		NaN																	1	Substitution - coding silent(1)		endometrium(1)	stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1)	6						c.(1171-1173)GTG>GTA		NIMA-related kinase 8							119.0	93.0	102.0					17																	27065214		2203	4300	6503	SO:0001819	synonymous_variant	284086					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:27065214G>A	AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"""NIMA (never in mitosis gene a)- related kinase 8"""			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.1173G>A	17.37:g.27065214G>A							p.V391V	NM_178170	NP_835464	Q86SG6	NEK8_HUMAN			8	1173	+	Lung NSC(42;0.0158)		391					A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Silent	SNP	ENST00000268766.6	37	c.1173G>A	CCDS32597.1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.584127	0.28268	.	.	ENSG00000160602	ENST00000543014	T	0.73575	-0.76	5.93	4.91	0.64330	.	.	.	.	.	D	0.83686	0.5308	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.85375	0.1116	6	0.87932	D	0	.	15.7208	0.77708	0.0:0.1366:0.8634:0.0	.	.	.	.	N	445	ENSP00000465859:D445N	ENSP00000446066:D445N	D	+	1	0	NEK8	24089341	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.687000	0.61708	2.814000	0.96858	0.655000	0.94253	GAC		0.642	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446467.2				19	33	0	0	0	0.010504	0	19	33		
PSMD11	5717	broad.mit.edu	37	17	30800897	30800897	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr17:30800897C>G	ENST00000261712.3	+	7	985	c.722C>G	c.(721-723)tCc>tGc	p.S241C	PSMD11_ENST00000457654.2_Missense_Mutation_p.S241C	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	241	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome assembly (GO:0043248)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stem cell differentiation (GO:0048863)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			GGTTATGACTCCATCGACAGC	0.453																																					Ovarian(130;1038 1716 9294 11987 19279)	uc010cta.1		NaN																	0				ovary(1)	1						c.(721-723)TCC>TGC		proteasome 26S non-ATPase subunit 11							191.0	152.0	165.0					17																	30800897		2203	4300	6503	SO:0001583	missense	5717				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding	g.chr17:30800897C>G	AB003102	CCDS11272.1	17q12	2008-05-22			ENSG00000108671	ENSG00000108671		"""Proteasome (prosome, macropain) subunits"""	9556	protein-coding gene	gene with protein product		604449				9426256, 9119060	Standard	NM_001270482		Approved	S9, p44.5, MGC3844, Rpn6	uc010cta.2	O00231	OTTHUMG00000132811	ENST00000261712.3:c.722C>G	17.37:g.30800897C>G	ENSP00000261712:p.Ser241Cys					PSMD11_uc010wbz.1_Missense_Mutation_p.S241C|PSMD11_uc002hhm.2_Missense_Mutation_p.S241C	p.S241C	NM_002815	NP_002806	O00231	PSD11_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		7	762	+		Breast(31;0.159)|Ovarian(249;0.182)	241			PCI.		A8K3I7|E1P663|O00495|Q53FT5	Missense_Mutation	SNP	ENST00000261712.3	37	c.722C>G	CCDS11272.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.593805	0.46214	.	.	ENSG00000108671	ENST00000261712	T	0.77098	-1.07	5.07	5.07	0.68467	PCI/PINT associated module (1);	0.000000	0.85682	D	0.000000	D	0.89431	0.6713	M	0.91038	3.17	0.80722	D	1	D;D	0.71674	0.998;0.991	D;P	0.63192	0.912;0.766	D	0.91658	0.5340	10	0.87932	D	0	-6.0732	15.9735	0.80040	0.0:1.0:0.0:0.0	.	241;241	B4DTS5;O00231	.;PSD11_HUMAN	C	241	ENSP00000261712:S241C	ENSP00000261712:S241C	S	+	2	0	PSMD11	27825010	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.647000	0.83462	2.629000	0.89072	0.655000	0.94253	TCC		0.453	PSMD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256252.2		NM_002815		4	73	0	0	0	0.009096	0	4	73		
MLLT6	4302	broad.mit.edu	37	17	36872640	36872640	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr17:36872640C>G	ENST00000325718.7	+	10	1148	c.1057C>G	c.(1057-1059)Cct>Gct	p.P353A	CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	353					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					GCAGAGCTCCCCTGACTTCTC	0.637			T	MLL	AL																																	uc002hqi.3		NaN		Dom	yes		17	17q21	4302	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"""			L	MLL		AL		0				breast(3)|prostate(1)|lung(1)|skin(1)	6						c.(1057-1059)CCT>GCT		myeloid/lymphoid or mixed-lineage leukemia							41.0	42.0	42.0					17																	36872640		2203	4300	6503	SO:0001583	missense	4302				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding	g.chr17:36872640C>G		CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"""Zinc fingers, PHD-type"""	7138	protein-coding gene	gene with protein product	"""Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6"", ""trithorax homolog"""	600328	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"""			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498	ENST00000325718.7:c.1057C>G	17.37:g.36872640C>G	ENSP00000316426:p.Pro353Ala					MLLT6_uc002hqj.2_Intron|MLLT6_uc002hqk.3_5'Flank	p.P353A	NM_005937	NP_005928	P55198	AF17_HUMAN			10	1070	+	Breast(7;4.43e-21)		353					Q59F28|Q96IU3|Q9H5F6|Q9UF49	Missense_Mutation	SNP	ENST00000325718.7	37	c.1057C>G	CCDS11327.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.856375	0.71834	.	.	ENSG00000108292	ENST00000325718	T	0.13778	2.56	5.33	5.33	0.75918	.	0.955141	0.08693	N	0.907666	T	0.32466	0.0830	L	0.53249	1.67	0.58432	D	0.999994	D	0.76494	0.999	D	0.78314	0.991	T	0.04678	-1.0934	10	0.07482	T	0.82	.	16.5152	0.84297	0.0:1.0:0.0:0.0	.	353	P55198	AF17_HUMAN	A	353	ENSP00000316426:P353A	ENSP00000316426:P353A	P	+	1	0	MLLT6	34126166	1.000000	0.71417	0.996000	0.52242	0.873000	0.50193	3.940000	0.56599	2.503000	0.84419	0.561000	0.74099	CCT		0.637	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256799.1		NM_005937		18	28	0	0	0	0.007413	0	18	28		
KRT39	390792	broad.mit.edu	37	17	39116697	39116697	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr17:39116697C>T	ENST00000355612.2	-	6	1088	c.1053G>A	c.(1051-1053)ctG>ctA	p.L351L	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	351	Coil 2.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				GGATCTGGGTCAGCAAGGCCG	0.502																																						uc002hvo.1		NaN																	0					0						c.(1051-1053)CTG>CTA		type I hair keratin KA35							157.0	148.0	151.0					17																	39116697		2203	4296	6499	SO:0001819	synonymous_variant	390792					intermediate filament	structural molecule activity	g.chr17:39116697C>T	AJ786657	CCDS11382.1	17q21.2	2013-01-16			ENSG00000196859	ENSG00000196859		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	32971	protein-coding gene	gene with protein product						16831889	Standard	NM_213656		Approved	KA35	uc002hvo.1	Q6A163	OTTHUMG00000133424	ENST00000355612.2:c.1053G>A	17.37:g.39116697C>T						KRT39_uc010wfm.1_Silent_p.L84L	p.L351L	NM_213656	NP_998821	Q6A163	K1C39_HUMAN			6	1089	-		Breast(137;0.00043)|Ovarian(249;0.15)	351			Coil 2.|Rod.		B2RXK6|Q6IFU6	Silent	SNP	ENST00000355612.2	37	c.1053G>A	CCDS11382.1																																																																																				0.502	KRT39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257287.1		NM_213656		45	85	0	0	0	0.01441	0	45	85		
CD300LG	146894	broad.mit.edu	37	17	41925958	41925958	+	Missense_Mutation	SNP	A	A	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr17:41925958A>T	ENST00000317310.4	+	2	117	c.76A>T	c.(76-78)Agc>Tgc	p.S26C	CD300LG_ENST00000586233.1_Missense_Mutation_p.S26C|CD300LG_ENST00000588884.1_Missense_Mutation_p.S26C|CD300LG_ENST00000377203.4_Missense_Mutation_p.S26C|CD300LG_ENST00000293396.8_Missense_Mutation_p.S26C|CD300LG_ENST00000539718.1_Missense_Mutation_p.S26C	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	26	Ig-like V-type.				immune system process (GO:0002376)|immunoglobulin transcytosis in epithelial cells (GO:0002414)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		AGAGGAAATCAGCGGGTTCGA	0.562																																						uc002iem.2		NaN																	0					0						c.(76-78)AGC>TGC		CD300 molecule-like family member g precursor							68.0	66.0	66.0					17																	41925958		2203	4300	6503	SO:0001583	missense	146894					apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity	g.chr17:41925958A>T	BC025395	CCDS11470.1, CCDS54131.1, CCDS54132.1, CCDS54133.1	17q21.31	2013-01-11	2006-03-29					"""Immunoglobulin superfamily / V-set domain containing"""	30455	protein-coding gene	gene with protein product	"""nepmucin"""	610520	"""CD300 antigen like family member G"""			16876123, 16754720	Standard	NM_001168322		Approved	Trem4, CLM9	uc002iem.3	Q6UXG3		ENST00000317310.4:c.76A>T	17.37:g.41925958A>T	ENSP00000321005:p.Ser26Cys					CD300LG_uc002iek.1_Missense_Mutation_p.S26C|CD300LG_uc002iel.1_Missense_Mutation_p.S26C|CD300LG_uc010czk.2_Missense_Mutation_p.S26C|CD300LG_uc010wil.1_Missense_Mutation_p.S26C|CD300LG_uc010czl.2_Missense_Mutation_p.S26C	p.S26C	NM_145273	NP_660316	Q6UXG3	CLM9_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	2	117	+		Breast(137;0.0199)	26			Extracellular (Potential).|Ig-like V-type.		B4DNY5|F5H7P9|F8W9M3|Q8IX38|Q8IX39|Q8TA95	Missense_Mutation	SNP	ENST00000317310.4	37	c.76A>T	CCDS11470.1	.	.	.	.	.	.	.	.	.	.	A	15.50	2.853262	0.51270	.	.	ENSG00000161649	ENST00000317310;ENST00000539718;ENST00000377203;ENST00000293396	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.03	2.75	0.32379	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.287707	0.25666	N	0.029110	T	0.80633	0.4660	M	0.88704	2.975	0.09310	N	1	D;D;D;D;D;D	0.89917	0.998;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.87578	0.981;0.997;0.996;0.989;0.997;0.998	T	0.70015	-0.4988	10	0.87932	D	0	.	5.3884	0.16229	0.731:0.1764:0.0925:0.0	.	26;26;26;26;26;26	F8W9M3;Q6UXG3-3;F5H7P9;Q6UXG3;Q6UXG3-2;B4DNY5	.;.;.;CLM9_HUMAN;.;.	C	26	ENSP00000321005:S26C;ENSP00000442368:S26C;ENSP00000366408:S26C;ENSP00000293396:S26C	ENSP00000293396:S26C	S	+	1	0	CD300LG	39281484	0.653000	0.27358	0.002000	0.10522	0.004000	0.04260	1.747000	0.38298	0.326000	0.23384	0.533000	0.62120	AGC		0.562	CD300LG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457646.1		NM_145273		35	55	0	0	0	0.004289	0	35	55		
GPATCH8	23131	broad.mit.edu	37	17	42475276	42475276	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr17:42475276G>A	ENST00000591680.1	-	8	4199	c.4169C>T	c.(4168-4170)gCc>gTc	p.A1390V	GPATCH8_ENST00000434000.1_Missense_Mutation_p.A1312V	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1390	Poly-Ala.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		AATGCCGATGGCGGCAGCAGC	0.577																																						uc002igw.1		NaN																	0				ovary(2)|kidney(1)|skin(1)	4						c.(4168-4170)GCC>GTC		G patch domain containing 8							77.0	66.0	70.0					17																	42475276		2203	4300	6503	SO:0001583	missense	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42475276G>A	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.4169C>T	17.37:g.42475276G>A	ENSP00000467556:p.Ala1390Val					GPATCH8_uc002igv.1_Missense_Mutation_p.A1312V|GPATCH8_uc010wiz.1_Missense_Mutation_p.A1312V	p.A1390V	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	8	4233	-		Prostate(33;0.0181)	1390			Poly-Ala.		B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	ENST00000591680.1	37	c.4169C>T	CCDS32666.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.273476	0.59649	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.21031	2.03	5.14	5.14	0.70334	.	0.000000	0.64402	D	0.000020	T	0.43411	0.1246	L	0.58101	1.795	0.51767	D	0.999937	D	0.63880	0.993	D	0.72625	0.978	T	0.11792	-1.0573	10	0.33940	T	0.23	-11.7597	18.199	0.89832	0.0:0.0:1.0:0.0	.	1390	Q9UKJ3	GPTC8_HUMAN	V	1390;1312	ENSP00000395016:A1312V	ENSP00000335486:A1390V	A	-	2	0	GPATCH8	39830802	1.000000	0.71417	0.998000	0.56505	0.720000	0.41350	6.865000	0.75500	2.391000	0.81399	0.305000	0.20034	GCC		0.577	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1		NM_001002909		6	38	0	0	0	0.001984	0	6	38		
CLTC	1213	broad.mit.edu	37	17	57754351	57754351	+	Silent	SNP	T	T	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr17:57754351T>A	ENST00000269122.3	+	17	2872	c.2598T>A	c.(2596-2598)atT>atA	p.I866I	CLTC_ENST00000393043.1_Silent_p.I866I|CLTC_ENST00000579456.1_Intron|CLTC_ENST00000579815.1_3'UTR	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	866	Heavy chain arm.|Proximal segment.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					AGGCCAGAATTCATGAGGGCT	0.408			T	"""ALK, TFE3"""	"""ALCL, renal """																																	uc002ixq.1		NaN		Dom	yes		17	17q11-qter	1213	T	"""clathrin, heavy polypeptide (Hc)"""			L	ALK|TFE3		ALCL|renal 	CLTC/ALK(44)|CLTC/TFE3(2)	0				haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1)	48						c.(2596-2598)ATT>ATA		clathrin heavy chain 1							50.0	54.0	52.0					17																	57754351		2203	4300	6503	SO:0001819	synonymous_variant	1213				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	g.chr17:57754351T>A	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.2598T>A	17.37:g.57754351T>A						CLTC_uc002ixp.2_Silent_p.I866I|CLTC_uc002ixr.1_Silent_p.I870I	p.I866I	NM_004859	NP_004850	Q00610	CLH1_HUMAN			17	3041	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		866			Heavy chain arm.|Proximal segment.		D3DU00|Q6N0A0|Q86TF2	Silent	SNP	ENST00000269122.3	37	c.2598T>A	CCDS32696.1																																																																																				0.408	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1		NM_004859		8	14	0	0	0	0.00308	0	8	14		
CSH2	1443	broad.mit.edu	37	17	61949641	61949641	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr17:61949641G>A	ENST00000392886.2	-	5	650	c.499C>T	c.(499-501)Cag>Tag	p.Q167*	CSH2_ENST00000560142.1_Nonsense_Mutation_p.Q110*|CSH2_ENST00000336844.5_3'UTR|CSH2_ENST00000345366.7_Nonsense_Mutation_p.Q72*	NM_020991.3	NP_066271.1	P0DML3	CSH2_HUMAN	chorionic somatomammotropin hormone 2	167						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			endometrium(2)|large_intestine(1)|lung(3)	6						CTGTAGGTCTGCTTGAGGATC	0.557																																						uc002jch.2		NaN																	0					0						c.(499-501)CAG>TAG		chorionic somatomammotropin hormone 2 isoform 1							182.0	168.0	173.0					17																	61949641		2203	4300	6503	SO:0001587	stop_gained	1443				female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding	g.chr17:61949641G>A	V00573	CCDS11646.1, CCDS42368.1, CCDS42369.1	17q22-q24	2012-10-02							2441	protein-coding gene	gene with protein product	"""placental lactogen"", ""chorionic somatomammotropin B"""	118820				593368, 6208192	Standard	NM_020991		Approved	hCS-B, CSB, CS-2	uc002jch.3	P0DML3		ENST00000392886.2:c.499C>T	17.37:g.61949641G>A	ENSP00000376623:p.Gln167*					CSH2_uc002jcg.2_Nonsense_Mutation_p.Q72*|CSH2_uc002jci.2_3'UTR|GH2_uc002jcj.2_Silent_p.S165S|CSH2_uc002jck.2_Nonsense_Mutation_p.Q167*	p.Q167*	NM_020991	NP_066271	P01243	CSH_HUMAN			5	614	-			167					P01243|Q0VDB1|Q14407	Nonsense_Mutation	SNP	ENST00000392886.2	37	c.499C>T	CCDS42369.1	.	.	.	.	.	.	.	.	.	.	-	9.550	1.115769	0.20795	.	.	ENSG00000213218	ENST00000345366;ENST00000392886	.	.	.	3.97	2.91	0.33838	.	1800.780000	0.00166	N	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	12.5718	0.56341	0.0:0.0:0.8218:0.1782	.	.	.	.	X	72;167	.	ENSP00000308396:Q72X	Q	-	1	0	CSH2	59303373	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	2.683000	0.46943	2.033000	0.60031	0.462000	0.41574	CAG		0.557	CSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417657.1		NM_020991		76	106	0	0	0	0.01441	0	76	106		
CSH2	1443	broad.mit.edu	37	17	61950572	61950572	+	Silent	SNP	C	C	T	rs548268021		TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr17:61950572C>T	ENST00000392886.2	-	2	289	c.138G>A	c.(136-138)gcG>gcA	p.A46A	CSH2_ENST00000560142.1_Intron|CSH2_ENST00000336844.5_Silent_p.A46A|CSH2_ENST00000345366.7_Silent_p.A46A	NM_020991.3	NP_066271.1	P0DML3	CSH2_HUMAN	chorionic somatomammotropin hormone 2	46						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			endometrium(2)|large_intestine(1)|lung(3)	6						CCAGCTGGTGCGCGCGATGGG	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		24199	0.001		0.0	False		,,,				2504	0.0					uc002jch.2		NaN																	0					0						c.(136-138)GCG>GCA		chorionic somatomammotropin hormone 2 isoform 1																																				SO:0001819	synonymous_variant	1443				female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding	g.chr17:61950572C>T	V00573	CCDS11646.1, CCDS42368.1, CCDS42369.1	17q22-q24	2012-10-02							2441	protein-coding gene	gene with protein product	"""placental lactogen"", ""chorionic somatomammotropin B"""	118820				593368, 6208192	Standard	NM_020991		Approved	hCS-B, CSB, CS-2	uc002jch.3	P0DML3		ENST00000392886.2:c.138G>A	17.37:g.61950572C>T						CSH2_uc002jcg.2_Silent_p.A46A|CSH2_uc002jci.2_Silent_p.A46A|GH2_uc002jcj.2_Intron|CSH2_uc002jck.2_Silent_p.A46A	p.A46A	NM_020991	NP_066271	P01243	CSH_HUMAN			2	253	-			46					P01243|Q0VDB1|Q14407	Silent	SNP	ENST00000392886.2	37	c.138G>A	CCDS42369.1																																																																																				0.592	CSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417657.1		NM_020991		21	112	0	0	0	0.006999	0	21	112		
SCN4A	6329	broad.mit.edu	37	17	62018842	62018842	+	Missense_Mutation	SNP	G	G	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr17:62018842G>T	ENST00000435607.1	-	24	4876	c.4800C>A	c.(4798-4800)aaC>aaA	p.N1600K	SCN4A_ENST00000578147.1_Missense_Mutation_p.N1600K	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1600					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCACATTGAAGTTCTCCAGGA	0.532																																						uc002jds.1		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(4798-4800)AAC>AAA		voltage-gated sodium channel type 4 alpha	Lamotrigine(DB00555)						71.0	76.0	74.0					17																	62018842		2194	4291	6485	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62018842G>T	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.4800C>A	17.37:g.62018842G>T	ENSP00000396320:p.Asn1600Lys						p.N1600K	NM_000334	NP_000325	P35499	SCN4A_HUMAN			24	4877	-			1600					Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.4800C>A	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.337823	0.60963	.	.	ENSG00000007314	ENST00000435607	D	0.97378	-4.36	3.91	1.88	0.25563	.	0.000000	0.85682	D	0.000000	D	0.98359	0.9455	M	0.93550	3.43	0.53688	D	0.999979	D	0.76494	0.999	D	0.69654	0.965	D	0.97720	1.0196	10	0.87932	D	0	.	8.3687	0.32402	0.1968:0.0:0.8032:0.0	.	1600	P35499	SCN4A_HUMAN	K	1600	ENSP00000396320:N1600K	ENSP00000396320:N1600K	N	-	3	2	SCN4A	59372574	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.649000	0.61433	0.419000	0.25927	0.561000	0.74099	AAC		0.532	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_000334		33	55	1	0	1.57351e-24	0.003755	1.79682e-24	33	55		
PSMD12	5718	broad.mit.edu	37	17	65353674	65353674	+	Silent	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr17:65353674G>A	ENST00000356126.3	-	2	236	c.129C>T	c.(127-129)gtC>gtT	p.V43V	PSMD12_ENST00000357146.4_Intron|PSMD12_ENST00000581618.1_5'UTR	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 12	43					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					GGGTTTCAATGACTTCTTGAA	0.333																																						uc002jfy.2		NaN																	0					0						c.(127-129)GTC>GTT		proteasome 26S non-ATPase subunit 12 isoform 1							131.0	134.0	133.0					17																	65353674		2203	4300	6503	SO:0001819	synonymous_variant	5718				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding	g.chr17:65353674G>A	AB003103	CCDS11669.1, CCDS11670.1	17q24.3	2008-05-22			ENSG00000197170	ENSG00000197170		"""Proteasome (prosome, macropain) subunits"""	9557	protein-coding gene	gene with protein product		604450				9426256	Standard	NM_002816		Approved	p55, Rpn5	uc002jfy.3	O00232	OTTHUMG00000140376	ENST00000356126.3:c.129C>T	17.37:g.65353674G>A						PSMD12_uc002jga.2_Intron|PSMD12_uc002jfz.2_5'UTR|PSMD12_uc010det.1_Silent_p.V43V	p.V43V	NM_002816	NP_002807	O00232	PSD12_HUMAN			2	215	-	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)		43					A6NP15|Q53HA2|Q6P053	Silent	SNP	ENST00000356126.3	37	c.129C>T	CCDS11669.1																																																																																				0.333	PSMD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277103.1		NM_002816, NM_174871		35	139	0	0	0	0.004289	0	35	139		
RNF213	57674	broad.mit.edu	37	17	78320135	78320135	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr17:78320135C>G	ENST00000582970.1	+	29	8143	c.8000C>G	c.(7999-8001)tCc>tGc	p.S2667C	RNF213_ENST00000508628.2_Missense_Mutation_p.S2716C|RNF213_ENST00000336301.6_Missense_Mutation_p.S740C	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2667					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)			GCCTTTCTCTCCAAGTCCAGC	0.532																																						uc002jyh.1		NaN																	0				ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21						c.(2218-2220)TCC>TGC		ring finger protein 213							67.0	65.0	66.0					17																	78320135		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78320135C>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.8000C>G	17.37:g.78320135C>G	ENSP00000464087:p.Ser2667Cys						p.S740C	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		4	2442	+	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.2219C>G	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	C	0.578	-0.838152	0.02692	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.24908	1.83	5.37	-5.08	0.02929	.	1.678060	0.02746	N	0.116879	T	0.11665	0.0284	N	0.01352	-0.895	0.09310	N	1	B	0.15141	0.012	B	0.14023	0.01	T	0.35325	-0.9793	10	0.62326	D	0.03	.	15.7568	0.78037	0.1348:0.6489:0.2163:0.0	.	740	Q63HN8	RN213_HUMAN	C	2667;2716;740	ENSP00000338218:S740C	ENSP00000338218:S740C	S	+	2	0	RNF213	75934730	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.989000	0.03736	-0.668000	0.05296	-0.344000	0.07964	TCC		0.532	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1		NM_020914		20	59	0	0	0	0.007413	0	20	59		
B3GNTL1	146712	broad.mit.edu	37	17	81006550	81006550	+	Missense_Mutation	SNP	T	T	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr17:81006550T>C	ENST00000320865.3	-	2	185	c.172A>G	c.(172-174)Agt>Ggt	p.S58G	B3GNTL1_ENST00000576599.1_5'UTR|B3GNTL1_ENST00000571954.1_5'UTR	NM_001009905.1	NP_001009905.1	Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1	58							transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			CAAACCTTACTGGCATCATTG	0.507																																						uc002kgg.1		NaN																	0				ovary(1)|pancreas(1)	2						c.(172-174)AGT>GGT		UDP-GlcNAc:betaGal							98.0	91.0	94.0					17																	81006550		2203	4300	6503	SO:0001583	missense	146712						transferase activity, transferring glycosyl groups	g.chr17:81006550T>C	AY634364	CCDS32778.1	17q25.3	2013-02-22	2004-01-13	2004-01-14	ENSG00000175711	ENSG00000175711		"""Glycosyltransferase family 2 domain containing"""	21727	protein-coding gene	gene with protein product		615337					Standard	NM_001009905		Approved	B3GNT8	uc002kgg.1	Q67FW5	OTTHUMG00000177788	ENST00000320865.3:c.172A>G	17.37:g.81006550T>C	ENSP00000319979:p.Ser58Gly					B3GNTL1_uc002kgf.1_5'UTR	p.S58G	NM_001009905	NP_001009905	Q67FW5	B3GNL_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)		2	186	-	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	58					Q6GV30|Q8WUT3	Missense_Mutation	SNP	ENST00000320865.3	37	c.172A>G	CCDS32778.1	.	.	.	.	.	.	.	.	.	.	T	15.24	2.773412	0.49786	.	.	ENSG00000175711	ENST00000320865	T	0.77750	-1.12	4.16	4.16	0.48862	Glycosyl transferase, family 2 (1);	0.097670	0.64402	D	0.000001	D	0.89005	0.6592	M	0.91249	3.19	0.58432	D	0.999994	D	0.89917	1.0	D	0.85130	0.997	D	0.90394	0.4397	9	.	.	.	-14.3636	10.1397	0.42728	0.0:0.0:0.0:1.0	.	58	Q67FW5	B3GNL_HUMAN	G	58	ENSP00000319979:S58G	.	S	-	1	0	B3GNTL1	78599839	1.000000	0.71417	1.000000	0.80357	0.105000	0.19272	5.851000	0.69481	1.821000	0.53095	0.383000	0.25322	AGT		0.507	B3GNTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438949.1		NM_001009905		49	49	0	0	0	0.01441	0	49	49		
C18orf8	29919	broad.mit.edu	37	18	21110004	21110004	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr18:21110004G>A	ENST00000269221.3	+	17	1617	c.1507G>A	c.(1507-1509)Gaa>Aaa	p.E503K	C18orf8_ENST00000591367.1_3'UTR|C18orf8_ENST00000590868.1_Missense_Mutation_p.E455K	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	503	Mic1.					lysosomal membrane (GO:0005765)				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TTACCTACATGAACTTGTTAT	0.433																																						uc010xax.1		NaN																	0				ovary(1)	1						c.(1507-1509)GAA>AAA		colon cancer-associated protein Mic1							309.0	309.0	309.0					18																	21110004		2203	4300	6503	SO:0001583	missense	29919							g.chr18:21110004G>A	AK057192	CCDS32803.1, CCDS74199.1	18q11.2	2013-12-13			ENSG00000141452	ENSG00000141452			24326	protein-coding gene	gene with protein product	"""colon cancer associated protein Mic1"", ""macrophage inhibitory cytokine 1"""					12477932	Standard	NM_013326		Approved	MIC1, MIC-1, HsT2591	uc021uie.2	Q96DM3		ENST00000269221.3:c.1507G>A	18.37:g.21110004G>A	ENSP00000269221:p.Glu503Lys					C18orf8_uc002kul.2_RNA|C18orf8_uc010xay.1_Missense_Mutation_p.E127K|NPC1_uc010dlu.1_Intron	p.E503K	NM_013326	NP_037458	Q96DM3	MIC1_HUMAN			18	1628	+	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)		503			Mic1.		Q9BU17|Q9Y5M0	Missense_Mutation	SNP	ENST00000269221.3	37	c.1507G>A	CCDS32803.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.364714	0.61513	.	.	ENSG00000141452	ENST00000269221;ENST00000544799;ENST00000540942;ENST00000542734	.	.	.	5.28	5.28	0.74379	Colon cancer-associated Mic1-like (1);	0.000000	0.85682	D	0.000000	T	0.73575	0.3604	L	0.52011	1.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	T	0.66893	-0.5808	9	0.13853	T	0.58	-12.24	18.9177	0.92512	0.0:0.0:1.0:0.0	.	346;503	B7Z2Y1;Q96DM3	.;MIC1_HUMAN	K	503;346;455;346	.	ENSP00000269221:E503K	E	+	1	0	C18orf8	19364002	1.000000	0.71417	0.576000	0.28549	0.533000	0.34776	9.334000	0.96470	2.462000	0.83206	0.655000	0.94253	GAA		0.433	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445386.1		NM_013326		193	158	0	0	0	0.01441	0	193	158		
MEP1B	4225	broad.mit.edu	37	18	29797898	29797898	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr18:29797898C>T	ENST00000269202.6	+	14	2108	c.2061C>T	c.(2059-2061)agC>agT	p.S687S	MEP1B_ENST00000581447.1_Silent_p.S687S	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	687					digestion (GO:0007586)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AAAGGATGAGCTCAAATCGAC	0.398																																						uc002kxj.3		NaN																	0				ovary(2)	2						c.(2059-2061)AGC>AGT		meprin A beta precursor							132.0	132.0	132.0					18																	29797898		1979	4156	6135	SO:0001819	synonymous_variant	4225				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr18:29797898C>T	X81333	CCDS45846.1	18q12.2-q12.3	2003-12-17				ENSG00000141434	3.4.24.18		7020	protein-coding gene	gene with protein product		600389				7774936	Standard	NM_005925		Approved		uc002kxj.4	Q16820		ENST00000269202.6:c.2061C>T	18.37:g.29797898C>T							p.S687S	NM_005925	NP_005916	Q16820	MEP1B_HUMAN			14	2108	+			687			Cytoplasmic (Potential).		B7ZM35|B9EGL6|Q670J1	Silent	SNP	ENST00000269202.6	37	c.2061C>T	CCDS45846.1																																																																																				0.398	MEP1B-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447755.1		NM_005925		4	22	0	0	0	0.000602	0	4	22		
MEP1B	4225	broad.mit.edu	37	18	29797900	29797900	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr18:29797900C>A	ENST00000269202.6	+	14	2110	c.2063C>A	c.(2062-2064)tCa>tAa	p.S688*	MEP1B_ENST00000581447.1_Nonsense_Mutation_p.S688*	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	688					digestion (GO:0007586)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AGGATGAGCTCAAATCGACCA	0.393																																						uc002kxj.3		NaN																	0				ovary(2)	2						c.(2062-2064)TCA>TAA		meprin A beta precursor							130.0	130.0	130.0					18																	29797900		1969	4152	6121	SO:0001587	stop_gained	4225				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr18:29797900C>A	X81333	CCDS45846.1	18q12.2-q12.3	2003-12-17				ENSG00000141434	3.4.24.18		7020	protein-coding gene	gene with protein product		600389				7774936	Standard	NM_005925		Approved		uc002kxj.4	Q16820		ENST00000269202.6:c.2063C>A	18.37:g.29797900C>A	ENSP00000269202:p.Ser688*						p.S688*	NM_005925	NP_005916	Q16820	MEP1B_HUMAN			14	2110	+			688			Cytoplasmic (Potential).		B7ZM35|B9EGL6|Q670J1	Nonsense_Mutation	SNP	ENST00000269202.6	37	c.2063C>A	CCDS45846.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.551962	0.86127	.	.	ENSG00000141434	ENST00000269202	.	.	.	5.15	3.25	0.37280	.	1.365850	0.04621	N	0.402033	.	.	.	.	.	.	0.44852	D	0.997862	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.5629	13.8538	0.63513	0.3984:0.6016:0.0:0.0	.	.	.	.	X	688	.	ENSP00000269202:S688X	S	+	2	0	MEP1B	28051898	0.002000	0.14202	0.008000	0.14137	0.019000	0.09904	1.440000	0.35024	1.364000	0.46038	0.467000	0.42956	TCA		0.393	MEP1B-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447755.1		NM_005925		3	22	1	0	2.56e-06	0.009096	2.68412e-06	3	22		
RBFA	79863	broad.mit.edu	37	18	77802217	77802217	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr18:77802217G>A	ENST00000306735.5	+	5	712	c.574G>A	c.(574-576)Gag>Aag	p.E192K	RP11-795F19.5_ENST00000569722.1_Intron|RP11-795F19.5_ENST00000564012.1_Intron|RBFA_ENST00000262197.7_Intron	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN	ribosome binding factor A (putative)	192					rRNA processing (GO:0006364)	mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						AGCTCTAGCTGAGGTAAGGTT	0.388																																						uc002lns.2		NaN																	0					0						c.(574-576)GAG>AAG		hypothetical protein LOC79863 precursor							75.0	67.0	70.0					18																	77802217		2203	4300	6503	SO:0001583	missense	79863				rRNA processing	mitochondrion		g.chr18:77802217G>A	BC014195	CCDS12021.1, CCDS54194.1	18q23	2010-10-21	2010-10-21	2010-10-21	ENSG00000101546	ENSG00000101546			26120	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 22"""	C18orf22		12477932	Standard	NM_024805		Approved	FLJ21172, HsT169	uc002lns.3	Q8N0V3	OTTHUMG00000132923	ENST00000306735.5:c.574G>A	18.37:g.77802217G>A	ENSP00000305696:p.Glu192Lys					C18orf22_uc010drh.2_Intron|C18orf22_uc010dri.1_Intron|C18orf22_uc002lnt.2_Missense_Mutation_p.E25K	p.E192K	NM_024805	NP_079081	Q8N0V3	RBFA_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.46e-08)|BRCA - Breast invasive adenocarcinoma(31;0.00376)	5	712	+		all_cancers(4;3.21e-14)|all_epithelial(4;7.11e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0545)|all_hematologic(56;0.15)|Melanoma(33;0.2)	192					Q6PF07|Q8WZ65|Q9H776	Missense_Mutation	SNP	ENST00000306735.5	37	c.574G>A	CCDS12021.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.710222	0.48517	.	.	ENSG00000101546	ENST00000306735	T	0.39997	1.05	5.18	4.31	0.51392	K homology domain-like, alpha/beta (1);Ribosome-binding factor A domain (1);	0.000000	0.56097	D	0.000040	T	0.57388	0.2050	M	0.83012	2.62	0.80722	D	1	P	0.41748	0.761	P	0.51453	0.67	T	0.60089	-0.7331	10	0.51188	T	0.08	-23.9416	10.5657	0.45171	0.0911:0.0:0.9089:0.0	.	192	Q8N0V3	RBFA_HUMAN	K	192	ENSP00000305696:E192K	ENSP00000305696:E192K	E	+	1	0	RBFA	75903205	0.993000	0.37304	0.811000	0.32455	0.038000	0.13279	2.435000	0.44811	1.172000	0.42781	0.585000	0.79938	GAG		0.388	RBFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256436.2		NM_024805		11	24	0	0	0	0.010729	0	11	24		
RAX2	84839	broad.mit.edu	37	19	3771575	3771575	+	Missense_Mutation	SNP	T	T	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr19:3771575T>G	ENST00000555633.1	-	2	506	c.166A>C	c.(166-168)Agc>Cgc	p.S56R	RAX2_ENST00000555978.1_Missense_Mutation_p.S56R			Q96IS3	RAX2_HUMAN	retina and anterior neural fold homeobox 2	56					regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00463)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTCACGGCTGTACACATCC	0.637																																						uc002lys.2		NaN																	0					0						c.(166-168)AGC>CGC		retina and anterior neural fold homeobox 2							59.0	47.0	51.0					19																	3771575		2197	4297	6494	SO:0001583	missense	84839				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:3771575T>G	AY211277	CCDS12112.1	19p13.3	2013-06-06	2007-08-28	2007-08-28				"""Homeoboxes / PRD class"""	18286	protein-coding gene	gene with protein product		610362	"""retina and anterior neural fold homeobox like 1"""	RAXL1			Standard	NM_032753		Approved	MGC15631, ARMD6, CORD11	uc002lys.3	Q96IS3		ENST00000555633.1:c.166A>C	19.37:g.3771575T>G	ENSP00000450456:p.Ser56Arg					RAX2_uc010dtp.1_RNA|RAX2_uc002lyr.2_Missense_Mutation_p.S102R	p.S56R	NM_032753	NP_116142	Q96IS3	RAX2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00463)|STAD - Stomach adenocarcinoma(1328;0.18)	2	234	-		Hepatocellular(1079;0.137)	56			Homeobox.			Missense_Mutation	SNP	ENST00000555633.1	37	c.166A>C	CCDS12112.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.3|24.3	4.514275|4.514275	0.85389|0.85389	.|.	.|.	ENSG00000173976|ENSG00000173976	ENST00000555978|ENST00000555633;ENST00000395106	.|D	.|0.95035	.|-3.59	3.52|3.52	3.52|3.52	0.40303|0.40303	.|Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	.|0.000000	.|0.37304	.|U	.|0.002147	D|D	0.91499|0.91499	0.7316|0.7316	N|N	0.03194|0.03194	-0.395|-0.395	0.80722|0.80722	D|D	1|1	.|D;D	.|0.61697	.|0.99;0.958	.|D;P	.|0.66979	.|0.948;0.824	D|D	0.92439|0.92439	0.5960|0.5960	5|10	.|0.72032	.|D	.|0.01	.|.	11.2487|11.2487	0.49013|0.49013	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|56;102	.|Q96IS3;G3V243	.|RAX2_HUMAN;.	P|R	75|102;56	.|ENSP00000450456:S102R	.|ENSP00000378538:S56R	Q|S	-|-	2|1	0|0	RAX2|RAX2	3722575|3722575	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.872000|0.872000	0.50106|0.50106	5.556000|5.556000	0.67307|0.67307	1.250000|1.250000	0.43966|0.43966	0.459000|0.459000	0.35465|0.35465	CAG|AGC		0.637	RAX2-001	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411919.2		NM_032753		12	0	0	0	0	0.010729	0	12	0		
PLIN4	729359	broad.mit.edu	37	19	4512576	4512576	+	Missense_Mutation	SNP	T	T	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr19:4512576T>C	ENST00000301286.3	-	3	1353	c.1354A>G	c.(1354-1356)Aag>Gag	p.K452E		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	452	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						ACAGTGTCCTTGGTACCAGTT	0.577																																						uc002mar.1		NaN																	0					0						c.(1354-1356)AAG>GAG		plasma membrane associated protein, S3-12							147.0	150.0	149.0					19																	4512576		2008	4173	6181	SO:0001583	missense	729359					lipid particle|plasma membrane		g.chr19:4512576T>C	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.1354A>G	19.37:g.4512576T>C	ENSP00000301286:p.Lys452Glu					PLIN4_uc010dub.1_5'Flank	p.K452E	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN			3	1354	-			452			11.|27 X 33 AA approximate tandem repeat.		A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	c.1354A>G	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	T	10.39	1.336672	0.24253	.	.	ENSG00000167676	ENST00000301286	T	0.08896	3.04	4.73	4.73	0.59995	.	0.120487	0.36854	N	0.002379	T	0.28699	0.0711	M	0.80422	2.495	0.25409	N	0.988378	D	0.89917	1.0	D	0.83275	0.996	T	0.07712	-1.0758	10	0.42905	T	0.14	-15.9998	12.2057	0.54350	0.0:0.0:0.0:1.0	.	452	Q96Q06	PLIN4_HUMAN	E	452	ENSP00000301286:K452E	ENSP00000301286:K452E	K	-	1	0	PLIN4	4463576	0.058000	0.20735	0.636000	0.29352	0.005000	0.04900	0.786000	0.26844	1.790000	0.52503	0.248000	0.18094	AAG		0.577	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1		XM_170901		91	24	0	0	0	0.01441	0	91	24		
LONP1	9361	broad.mit.edu	37	19	5696709	5696709	+	Missense_Mutation	SNP	G	G	A	rs140317309		TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr19:5696709G>A	ENST00000360614.3	-	11	1902	c.1745C>T	c.(1744-1746)aCg>aTg	p.T582M	LONP1_ENST00000590729.1_Missense_Mutation_p.T452M|LONP1_ENST00000540670.2_Missense_Mutation_p.T386M|LONP1_ENST00000585374.1_Missense_Mutation_p.T468M|LONP1_ENST00000593119.1_Missense_Mutation_p.T518M	NM_004793.2	NP_004784.2			lon peptidase 1, mitochondrial											breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGGGTTCTCCGTCTTGGTCTT	0.632																																						uc002mcx.2		NaN																	0					0						c.(1744-1746)ACG>ATG		mitochondrial lon peptidase 1 precursor		G	MET/THR	2,4404	4.2+/-10.8	0,2,2201	91.0	75.0	80.0		1745	4.8	1.0	19	dbSNP_134	80	0,8600		0,0,4300	no	missense	LONP1	NM_004793.2	81	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	582/960	5696709	2,13004	2203	4300	6503	SO:0001583	missense	9361				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding	g.chr19:5696709G>A	U02389	CCDS12148.1, CCDS62507.1, CCDS62508.1	19p13.2	2014-01-28	2006-10-20	2006-10-20	ENSG00000196365	ENSG00000196365		"""ATPases / AAA-type"", ""Serine peptidases / Serine peptidases"""	9479	protein-coding gene	gene with protein product		605490	"""protease, serine, 15"""	PRSS15		8248235, 8119403	Standard	NM_004793		Approved	LonHS, hLON, PIM1	uc002mcx.4	P36776		ENST00000360614.3:c.1745C>T	19.37:g.5696709G>A	ENSP00000353826:p.Thr582Met					LONP1_uc002mcy.2_Missense_Mutation_p.T518M|LONP1_uc010duh.2_Missense_Mutation_p.T323M|LONP1_uc010dui.2_Missense_Mutation_p.T566M|LONP1_uc002mcz.2_Missense_Mutation_p.T386M	p.T582M	NM_004793	NP_004784	P36776	LONM_HUMAN			11	1778	-			582						Missense_Mutation	SNP	ENST00000360614.3	37	c.1745C>T	CCDS12148.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.642641	0.87859	4.54E-4	0.0	ENSG00000196365	ENST00000360614;ENST00000358403;ENST00000540670	D;D	0.93247	-3.19;-3.19	4.85	4.85	0.62838	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.96253	0.8778	M	0.73598	2.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.989;0.994	D	0.96802	0.9590	10	0.87932	D	0	-33.4729	15.5156	0.75822	0.0:0.0:1.0:0.0	.	582;518;582	E5KMH8;Q8N8K8;P36776	.;.;LONM_HUMAN	M	582;546;386	ENSP00000353826:T582M;ENSP00000441523:T386M	ENSP00000351177:T546M	T	-	2	0	LONP1	5647709	1.000000	0.71417	1.000000	0.80357	0.624000	0.37722	9.115000	0.94336	2.257000	0.74773	0.485000	0.47835	ACG		0.632	LONP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451662.1		NM_004793		28	10	0	0	0	0.008361	0	28	10		
DNM2	1785	broad.mit.edu	37	19	10883300	10883300	+	Silent	SNP	A	A	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr19:10883300A>G	ENST00000355667.6	+	3	461	c.381A>G	c.(379-381)ccA>ccG	p.P127P	DNM2_ENST00000314646.5_Silent_p.P127P|DNM2_ENST00000359692.6_Silent_p.P127P|DNM2_ENST00000408974.4_Silent_p.P127P|DNM2_ENST00000591819.1_3'UTR|DNM2_ENST00000389253.4_Silent_p.P127P|DNM2_ENST00000585892.1_Silent_p.P127P	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	127	Dynamin-type G.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TCTACTCGCCACACGGTAGGC	0.562			"""F, N, Splice, Mis, O"""		ETP ALL																																	uc002mps.1		NaN		Rec	yes		19	19p13.2	1785		dynamin 2			L					0				central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6						c.(379-381)CCA>CCG		dynamin 2 isoform 2							86.0	57.0	67.0					19																	10883300		2203	4300	6503	SO:0001819	synonymous_variant	1785				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	g.chr19:10883300A>G		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.381A>G	19.37:g.10883300A>G						DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Silent_p.P127P|DNM2_uc002mpv.1_Silent_p.P127P|DNM2_uc002mpu.1_Silent_p.P127P|DNM2_uc010dxl.1_Silent_p.P127P	p.P127P	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		3	545	+			127					A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Silent	SNP	ENST00000355667.6	37	c.381A>G	CCDS45968.1																																																																																				0.562	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1		NM_004945		17	11	0	0	0	0.006122	0	17	11		
CC2D1A	54862	broad.mit.edu	37	19	14038827	14038827	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr19:14038827C>T	ENST00000318003.7	+	23	2679	c.2438C>T	c.(2437-2439)cCg>cTg	p.P813L	CC2D1A_ENST00000589606.1_Missense_Mutation_p.P813L	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	813					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GACCCTGTGCCGGCAGCTGTG	0.637																																						uc002mxo.2		NaN																	0					0						c.(2437-2439)CCG>CTG		coiled-coil and C2 domain containing 1A							52.0	63.0	59.0					19																	14038827		2061	4194	6255	SO:0001583	missense	54862				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity	g.chr19:14038827C>T	AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"""mental retardation, nonsyndromic, autosomal recessive, 3"""	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.2438C>T	19.37:g.14038827C>T	ENSP00000313601:p.Pro813Leu					CC2D1A_uc002mxp.2_Missense_Mutation_p.P813L|CC2D1A_uc010dzh.2_Missense_Mutation_p.P382L	p.P813L	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)		23	2737	+			813					Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Missense_Mutation	SNP	ENST00000318003.7	37	c.2438C>T	CCDS42512.1	.	.	.	.	.	.	.	.	.	.	c	20.6	4.016236	0.75161	.	.	ENSG00000132024	ENST00000318003;ENST00000254346	T	0.37584	1.19	4.19	4.19	0.49359	.	0.147062	0.48286	D	0.000191	T	0.27731	0.0682	L	0.36672	1.1	0.49687	D	0.999815	P;D;D	0.56287	0.944;0.975;0.967	B;B;B	0.40134	0.181;0.32;0.173	T	0.11251	-1.0595	10	0.62326	D	0.03	-13.8336	11.8816	0.52579	0.0:1.0:0.0:0.0	.	435;813;813	Q9NX28;Q6P1N0-2;Q6P1N0	.;.;C2D1A_HUMAN	L	813;436	ENSP00000313601:P813L	ENSP00000254346:P436L	P	+	2	0	CC2D1A	13899827	0.974000	0.33945	0.384000	0.26145	0.673000	0.39480	3.271000	0.51608	2.184000	0.69523	0.491000	0.48974	CCG		0.637	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457954.1		NM_017721		52	24	0	0	0	0.01441	0	52	24		
HNRNPUL1	11100	broad.mit.edu	37	19	41770556	41770556	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr19:41770556G>A	ENST00000392006.3	+	1	321	c.148G>A	c.(148-150)Gcc>Acc	p.A50T	HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.A50T|HNRNPUL1_ENST00000352456.3_Intron|HNRNPUL1_ENST00000263367.3_5'Flank|HNRNPUL1_ENST00000595018.1_Intron|HNRNPUL1_ENST00000593587.1_5'Flank|HNRNPUL1_ENST00000378215.4_Intron	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	50	Necessary for interaction with HRMT1L1.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						GGAGCTCGACGCCGACGACGA	0.746																																						uc002oqb.3		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(148-150)GCC>ACC		heterogeneous nuclear ribonucleoprotein U-like 1							7.0	10.0	9.0					19																	41770556		2113	4145	6258	SO:0001583	missense	11100				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding	g.chr19:41770556G>A	AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"""E1B 55kDa associated protein 5"""	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.148G>A	19.37:g.41770556G>A	ENSP00000375863:p.Ala50Thr					CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Intron|HNRNPUL1_uc002oqa.3_Intron|HNRNPUL1_uc010ehm.2_Missense_Mutation_p.A50T|HNRNPUL1_uc002oqc.3_Intron|HNRNPUL1_uc002oqe.3_Missense_Mutation_p.A50T|HNRNPUL1_uc002oqd.3_5'UTR|HNRNPUL1_uc010ehn.2_5'Flank|HNRNPUL1_uc010eho.2_5'Flank|HNRNPUL1_uc010xvy.1_5'Flank|HNRNPUL1_uc010ehl.1_Intron	p.A50T	NM_007040	NP_008971	Q9BUJ2	HNRL1_HUMAN			1	437	+			50			Necessary for interaction with HRMT1L1.		B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Missense_Mutation	SNP	ENST00000392006.3	37	c.148G>A	CCDS12576.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.822318	0.50739	.	.	ENSG00000105323	ENST00000392006;ENST00000270069	T	0.23754	1.89	3.91	0.306	0.15806	.	1.157740	0.06360	N	0.711471	T	0.10035	0.0246	N	0.03608	-0.345	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.35968	-0.9767	10	0.15499	T	0.54	-0.2994	4.8086	0.13331	0.212:0.2963:0.4917:0.0	.	50;50;50	Q9BUJ2-2;A8K5K0;Q9BUJ2	.;.;HNRL1_HUMAN	T	50	ENSP00000375863:A50T	ENSP00000270069:A50T	A	+	1	0	HNRNPUL1	46462396	1.000000	0.71417	0.997000	0.53966	0.887000	0.51463	3.741000	0.55090	0.339000	0.23719	-0.339000	0.08088	GCC		0.746	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463406.1		NM_144732, NM_007040		5	19	0	0	0	0.001168	0	5	19		
SMG9	56006	broad.mit.edu	37	19	44251840	44251840	+	Silent	SNP	A	A	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr19:44251840A>G	ENST00000270066.6	-	4	777	c.435T>C	c.(433-435)ccT>ccC	p.P145P	SMG9_ENST00000601170.1_Silent_p.P145P	NM_019108.2	NP_061981.2	Q9H0W8	SMG9_HUMAN	SMG9 nonsense mediated mRNA decay factor	145					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|intracellular (GO:0005622)	identical protein binding (GO:0042802)			kidney(1)|large_intestine(5)|liver(1)|lung(7)|pancreas(1)|prostate(2)|urinary_tract(2)	19						TCTGGTACACAGGCTGTGTGG	0.677																																						uc002oxj.2		NaN																	0					0						c.(433-435)CCT>CCC		SMG9 protein							28.0	31.0	30.0					19																	44251840		2203	4298	6501	SO:0001819	synonymous_variant	56006				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	intracellular	protein binding	g.chr19:44251840A>G	BC008869	CCDS33043.2	19q13.31	2013-07-02	2013-07-02	2011-06-21	ENSG00000105771	ENSG00000105771			25763	protein-coding gene	gene with protein product		613176	"""chromosome 19 open reading frame 61"", ""smg-9 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C19orf61		11230166, 19417104	Standard	NM_019108		Approved	FLJ12886	uc002oxj.2	Q9H0W8	OTTHUMG00000150337	ENST00000270066.6:c.435T>C	19.37:g.44251840A>G						C19orf61_uc002oxk.2_Silent_p.P145P|C19orf61_uc010eiy.1_Silent_p.P145P	p.P145P	NM_019108	NP_061981	Q9H0W8	SMG9_HUMAN			4	778	-		Prostate(69;0.0352)	145					O60429|Q9H9A9	Silent	SNP	ENST00000270066.6	37	c.435T>C	CCDS33043.2																																																																																				0.677	SMG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317668.1		NM_019108		6	18	0	0	0	0.001168	0	6	18		
ERCC2	2068	broad.mit.edu	37	19	45855787	45855787	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr19:45855787C>T	ENST00000391945.4	-	21	2100	c.2023G>A	c.(2023-2025)Ggc>Agc	p.G675S	ERCC2_ENST00000391944.3_Missense_Mutation_p.G597S	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	675			G -> R (in XP-D/CS; severe form). {ECO:0000269|PubMed:7825573}.		7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		ACCATGAGGCCGTAGTCCGTC	0.597			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc002pbj.2		NaN	yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	Mis|N|F|S	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"""			E		skin basal cell|skin squamous cell|melanoma			0				lung(2)|pancreas(1)	3	GRCh37	CM950364	ERCC2	M		c.(2023-2025)GGC>AGC	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							76.0	66.0	70.0					19																	45855787		2203	4300	6503	SO:0001583	missense	2068	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	g.chr19:45855787C>T		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"""General transcription factor IIH complex subunits"""	3434	protein-coding gene	gene with protein product	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 protein"", ""TFIIH basal transcription factor complex helicase XPB subunit"""	126340	"""xeroderma pigmentosum complementary group D"", ""excision repair cross-complementing rodent repair deficiency, complementation group 2"""	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.2023G>A	19.37:g.45855787C>T	ENSP00000375809:p.Gly675Ser					ERCC2_uc002pbh.2_Missense_Mutation_p.G238S|ERCC2_uc002pbi.2_Missense_Mutation_p.G368S|ERCC2_uc010ejz.2_Missense_Mutation_p.G597S|ERCC2_uc002pbk.2_Missense_Mutation_p.G651S	p.G675S	NM_000400	NP_000391	P18074	ERCC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	21	2070	-		Ovarian(192;0.0728)|all_neural(266;0.112)	675		G -> R (in XP-D/CS; severe form).			Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Missense_Mutation	SNP	ENST00000391945.4	37	c.2023G>A	CCDS33049.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.755138	0.89843	.	.	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944	T;T	0.80994	-1.44;-1.44	5.14	5.14	0.70334	Helicase, ATP-dependent, c2 type (1);	0.110771	0.64402	D	0.000010	D	0.89884	0.6844	M	0.80508	2.5	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.97110	0.995;0.988;1.0	D	0.91276	0.5048	10	0.87932	D	0	-35.7354	16.0952	0.81114	0.0:1.0:0.0:0.0	.	597;675;368	E7EVE9;P18074;Q6ZNQ5	.;ERCC2_HUMAN;.	S	625;651;675;597	ENSP00000375809:G675S;ENSP00000375808:G597S	ENSP00000375805:G625S	G	-	1	0	ERCC2	50547627	1.000000	0.71417	0.979000	0.43373	0.488000	0.33401	6.923000	0.75817	2.391000	0.81399	0.561000	0.74099	GGC		0.597	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2		NM_000400		38	44	0	0	0	0.004878	0	38	44		
EML2	24139	broad.mit.edu	37	19	46141892	46141893	+	Splice_Site	DNP	TC	TC	AA			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr19:46141892_46141893TC>AA	ENST00000245925.3	-	3	100	c.50_50GA>TT	c.(49-51)gGAa>gTTaa	p.G17V	MIR330_ENST00000362196.1_RNA|EML2_ENST00000536630.1_Splice_Site_p.G164V|EML2_ENST00000589876.1_Splice_Site_p.G17V|EML2_ENST00000587152.1_Splice_Site_p.G218V	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	17	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		GGAGCCATCCTCTGCCAGGACA	0.559																																						uc002pcn.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.e3-1		echinoderm microtubule associated protein like																																				SO:0001630	splice_region_variant	24139				sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding	g.chr19:46141892_46141893TC>AA	AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"""WD repeat domain containing"""	18035	protein-coding gene	gene with protein product	"""echinoderm MT-associated protein (EMAP)-like protein 70"", ""microtubule-associated protein like echinoderm EMAP"""					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.50_50delinsAA	19.37:g.46141892_46141893delinsAA						EML2_uc002pco.2_Splice_Site|EML2_uc002pcp.2_Intron|EML2_uc010xxl.1_Splice_Site_p.E164_splice|EML2_uc010xxm.1_Splice_Site_p.E218_splice|EML2_uc010xxn.1_Splice_Site|EML2_uc010xxo.1_Splice_Site_p.E17_splice|EML2_uc010ekj.2_Splice_Site_p.E17_splice	p.E17_splice	NM_012155	NP_036287	O95834	EMAL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)	3	85	-		Ovarian(192;0.179)|all_neural(266;0.224)						B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Splice_Site	DNP	ENST00000245925.3	37	c.50_splice	CCDS12670.1																																																																																				0.559	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1		NM_012155	Missense_Mutation	22	90	0	0	0	0.004672	0	22	90		
ZNF320	162967	broad.mit.edu	37	19	53384401	53384401	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr19:53384401C>T	ENST00000595635.1	-	8	1479	c.978G>A	c.(976-978)gaG>gaA	p.E326E	ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000391781.2_Silent_p.E326E	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	326					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		TGTAAGGTTTCTCTCCAGTGT	0.403																																						uc002qag.2		NaN																	0					0						c.(976-978)GAG>GAA		zinc finger protein 320							93.0	86.0	89.0					19																	53384401		2203	4300	6503	SO:0001819	synonymous_variant	162967				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53384401C>T	AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"""Zinc fingers, C2H2-type"", ""-"""	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.978G>A	19.37:g.53384401C>T						ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Silent_p.E272E|ZNF320_uc002qai.2_Silent_p.E326E	p.E326E	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN		GBM - Glioblastoma multiforme(134;0.0534)	4	1169	-			326					Q8NDR6	Silent	SNP	ENST00000595635.1	37	c.978G>A	CCDS33095.1																																																																																				0.403	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463771.1		NM_207333		23	43	0	0	0	0.012319	0	23	43		
LAIR2	3904	broad.mit.edu	37	19	55014120	55014121	+	5'UTR	DNP	TC	TC	AA			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr19:55014120_55014121TC>AA	ENST00000301202.2	+	0	108_109				LAIR2_ENST00000351841.2_5'Flank	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2							extracellular region (GO:0005576)				central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		GCTGCAGAGTTCTGGGACCGGG	0.629																																						uc002qgc.2		NaN																	0				ovary(1)	1						c.(-16--11)GTTCTG>GTAATG		leukocyte-associated immunoglobulin-like																																				SO:0001623	5_prime_UTR_variant	3904					extracellular region	receptor activity	g.chr19:55014120_55014121TC>AA	AF013250	CCDS12897.1, CCDS12898.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167618	ENSG00000167618		"""Leukocyte-associated Ig like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6478	protein-coding gene	gene with protein product		602993	"""leukocyte-associated Ig-like receptor 2"""			9285412	Standard	XM_005277264		Approved	CD306	uc002qgc.3	Q6ISS4	OTTHUMG00000065697	Exception_encountered	19.37:g.55014120_55014121delinsAA						LAIR2_uc002qga.1_Intron|LAIR2_uc002qgb.1_Intron|LAIR2_uc002qgd.2_Translation_Start_Site|LAIR2_uc010erl.2_Translation_Start_Site		NM_002288	NP_002279	Q6ISS4	LAIR2_HUMAN		GBM - Glioblastoma multiforme(193;0.0967)	1	108_109	+	Ovarian(34;0.19)							Q6PEZ4	Translation_Start_Site	DNP	ENST00000301202.2	37	c.-14_-13TC>AA	CCDS12897.1																																																																																				0.629	LAIR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140801.1				11	72	0	0	0	0.004672	0	11	72		
NLRP9	338321	broad.mit.edu	37	19	56243884	56243884	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr19:56243884C>G	ENST00000332836.2	-	2	1340	c.1313G>C	c.(1312-1314)gGg>gCg	p.G438A		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	438	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AAAACAGTCCCCTCTCCTTTG	0.483																																						uc002qly.2		NaN																	0				skin(4)|ovary(2)|breast(1)	7						c.(1312-1314)GGG>GCG		NLR family, pyrin domain containing 9							116.0	116.0	116.0					19																	56243884		2203	4300	6503	SO:0001583	missense	338321					cytoplasm	ATP binding	g.chr19:56243884C>G	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.1313G>C	19.37:g.56243884C>G	ENSP00000331857:p.Gly438Ala						p.G438A	NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	2	1341	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	438			NACHT.		B2RN12|Q86W27	Missense_Mutation	SNP	ENST00000332836.2	37	c.1313G>C	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.008022	0.35415	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	D	0.84660	-1.88	2.56	2.56	0.30785	.	.	.	.	.	D	0.84088	0.5395	L	0.46885	1.475	0.09310	N	1	P	0.51449	0.945	P	0.53006	0.715	T	0.72649	-0.4229	9	0.15499	T	0.54	.	11.3626	0.49653	0.0:1.0:0.0:0.0	.	438	Q7RTR0	NALP9_HUMAN	A	438	ENSP00000331857:G438A	ENSP00000331857:G438A	G	-	2	0	NLRP9	60935696	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-0.812000	0.04496	1.792000	0.52537	0.644000	0.83932	GGG		0.483	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1		NM_176820		73	87	0	0	0	0.01441	0	73	87		
NT5C1B	93034	broad.mit.edu	37	2	18764238	18764238	+	Missense_Mutation	SNP	A	A	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:18764238A>T	ENST00000359846.2	-	7	1174	c.1097T>A	c.(1096-1098)cTc>cAc	p.L366H	NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.L366H|NT5C1B_ENST00000304081.4_Missense_Mutation_p.L306H|NT5C1B_ENST00000460052.1_5'Flank|RNU6-1215P_ENST00000384441.1_RNA|NT5C1B_ENST00000600945.1_Missense_Mutation_p.L366H	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	366					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				TAGATCACGGAGTCTAGCATT	0.473																																						uc002rcz.2		NaN																	0				skin(2)|ovary(1)	3						c.(1096-1098)CTC>CAC		5' nucleotidase, cytosolic IB isoform 1							118.0	107.0	111.0					2																	18764238		2203	4300	6503	SO:0001583	missense	93034				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding	g.chr2:18764238A>T	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.1097T>A	2.37:g.18764238A>T	ENSP00000352904:p.Leu366His					NT5C1B_uc002rcy.2_Missense_Mutation_p.L366H|NT5C1B_uc010exr.2_Missense_Mutation_p.L308H|NT5C1B_uc010yju.1_Missense_Mutation_p.L306H|NT5C1B_uc002rda.2_Missense_Mutation_p.L306H|NT5C1B_uc010yjv.1_Missense_Mutation_p.L383H|NT5C1B_uc010yjw.1_Missense_Mutation_p.L349H|NT5C1B_uc010exs.2_Missense_Mutation_p.L368H	p.L366H	NM_001002006	NP_001002006	Q96P26	5NT1B_HUMAN			7	1201	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)	366					B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	ENST00000359846.2	37	c.1097T>A	CCDS33150.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.489174	0.84962	.	.	ENSG00000250741;ENSG00000250741;ENSG00000185013;ENSG00000185013	ENST00000532967;ENST00000444297;ENST00000304081;ENST00000359846	D	0.91792	-2.91	6.13	6.13	0.99165	.	0.132185	0.52532	D	0.000066	D	0.96030	0.8707	M	0.77313	2.365	0.58432	D	0.999999	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.996;0.992;0.996;0.992;1.0;0.993;0.996;0.983	D	0.96202	0.9146	10	0.66056	D	0.02	-27.6778	16.8061	0.85666	1.0:0.0:0.0:0.0	.	349;383;306;349;308;306;366;366	E7EXB7;B4DZ86;B4DXQ9;B4DXZ9;C9J2C7;Q96P26-2;Q96P26;Q96P26-4	.;.;.;.;.;.;5NT1B_HUMAN;.	H	366;308;306;366	ENSP00000412639:L308H	ENSP00000305979:L306H	L	-	2	0	NT5C1B-RDH14;NT5C1B	18627719	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.336000	0.96533	2.367000	0.80283	0.529000	0.55759	CTC		0.473	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1				8	39	0	0	0	0.004482	0	8	39		
RHOB	388	broad.mit.edu	37	2	20647740	20647740	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:20647740G>A	ENST00000272233.4	+	1	906	c.514G>A	c.(514-516)Gag>Aag	p.E172K		NM_004040.2	NP_004031.1	P62745	RHOB_HUMAN	ras homolog family member B	172					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|GTP catabolic process (GO:0006184)|negative regulation of cell cycle (GO:0045786)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|transformed cell apoptotic process (GO:0006927)	cleavage furrow (GO:0032154)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)	Botulinum Toxin Type A(DB00083)	CGAGGTCTTCGAGACGGCCAC	0.687																																						uc002rdv.2		NaN																	0				ovary(1)|lung(1)	2						c.(514-516)GAG>AAG		ras homolog gene family, member B precursor							54.0	56.0	55.0					2																	20647740		2191	4290	6481	SO:0001583	missense	388				angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr2:20647740G>A		CCDS1699.1	2p24	2012-02-27	2012-02-27	2004-03-24	ENSG00000143878	ENSG00000143878			668	protein-coding gene	gene with protein product	"""oncogene RHO H6"""	165370	"""ras homolog gene family, member B"""	ARH6, ARHB		3283705, 16278215	Standard	NM_004040		Approved	RhoB, RHOH6, MST081	uc002rdv.3	P62745	OTTHUMG00000090755	ENST00000272233.4:c.514G>A	2.37:g.20647740G>A	ENSP00000272233:p.Glu172Lys						p.E172K	NM_004040	NP_004031	P62745	RHOB_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)	1	906	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)	172					B2R692|P01121|Q5U0H6|Q7RTN5|Q7RTR9|Q9CUV7	Missense_Mutation	SNP	ENST00000272233.4	37	c.514G>A	CCDS1699.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.197709	0.58126	.	.	ENSG00000143878	ENST00000272233	T	0.71103	-0.54	5.38	5.38	0.77491	.	0.000000	0.85682	U	0.000000	T	0.63355	0.2504	L	0.40543	1.245	0.80722	D	1	P	0.39071	0.658	B	0.32090	0.14	T	0.69331	-0.5173	10	0.87932	D	0	-19.9856	19.5062	0.95116	0.0:0.0:1.0:0.0	.	172	P62745	RHOB_HUMAN	K	172	ENSP00000272233:E172K	ENSP00000272233:E172K	E	+	1	0	RHOB	20511221	1.000000	0.71417	1.000000	0.80357	0.002000	0.02628	7.807000	0.86032	2.701000	0.92244	0.655000	0.94253	GAG		0.687	RHOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207500.1		NM_004040		58	75	0	0	0	0.01441	0	58	75		
XDH	7498	broad.mit.edu	37	2	31562461	31562461	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:31562461C>T	ENST00000379416.3	-	34	3716	c.3668G>A	c.(3667-3669)cGt>cAt	p.R1223H		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1223					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	GCTAGGGCCACGGGTGTGCAG	0.597																																					Colon(66;682 1445 30109 40147)	uc002rnv.1		NaN																	0				skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8						c.(3667-3669)CGT>CAT		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						106.0	102.0	103.0					2																	31562461		2203	4300	6503	SO:0001583	missense	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31562461C>T	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.3668G>A	2.37:g.31562461C>T	ENSP00000368727:p.Arg1223His						p.R1223H	NM_000379	NP_000370	P47989	XDH_HUMAN			34	3747	-	Acute lymphoblastic leukemia(172;0.155)		1223					Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	c.3668G>A	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	C	36	5.622305	0.96660	.	.	ENSG00000158125	ENST00000379416	T	0.39406	1.08	5.91	5.91	0.95273	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.000000	0.85682	D	0.000000	T	0.58736	0.2143	L	0.42529	1.33	0.80722	D	1	D	0.71674	0.998	D	0.66497	0.944	T	0.58255	-0.7668	10	0.87932	D	0	.	19.9089	0.97019	0.0:1.0:0.0:0.0	.	1223	P47989	XDH_HUMAN	H	1223	ENSP00000368727:R1223H	ENSP00000368727:R1223H	R	-	2	0	XDH	31415965	1.000000	0.71417	0.959000	0.39883	0.981000	0.71138	6.003000	0.70701	2.793000	0.96121	0.655000	0.94253	CGT		0.597	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1		NM_000379		35	56	0	0	0	0.003271	0	35	56		
BIRC6	57448	broad.mit.edu	37	2	32626345	32626345	+	Silent	SNP	T	T	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:32626345T>C	ENST00000421745.2	+	7	1283	c.1149T>C	c.(1147-1149)gaT>gaC	p.D383D		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	383					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CTTGTACGGATGGAACTGACA	0.473																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2		NaN																	0				ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(1147-1149)GAT>GAC		baculoviral IAP repeat-containing 6							205.0	198.0	201.0					2																	32626345		2203	4300	6503	SO:0001819	synonymous_variant	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32626345T>C	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.1149T>C	2.37:g.32626345T>C							p.D383D	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			7	1283	+	Acute lymphoblastic leukemia(172;0.155)		383					Q9ULD1	Silent	SNP	ENST00000421745.2	37	c.1149T>C	CCDS33175.2																																																																																				0.473	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3		NM_016252		85	130	0	0	0	0.01441	0	85	130		
SLC8A1	6546	broad.mit.edu	37	2	40656252	40656252	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:40656252G>A	ENST00000403092.1	-	2	1202	c.1169C>T	c.(1168-1170)gCt>gTt	p.A390V	SLC8A1_ENST00000406785.2_Missense_Mutation_p.A390V|SLC8A1_ENST00000405269.1_Missense_Mutation_p.A390V|SLC8A1_ENST00000402441.1_Missense_Mutation_p.A390V|SLC8A1_ENST00000406391.2_Missense_Mutation_p.A390V|SLC8A1_ENST00000542756.1_Missense_Mutation_p.A390V|SLC8A1_ENST00000408028.2_Missense_Mutation_p.A390V|SLC8A1_ENST00000542024.1_Missense_Mutation_p.A390V|SLC8A1_ENST00000332839.4_Missense_Mutation_p.A390V|SLC8A1_ENST00000405901.3_Missense_Mutation_p.A390V			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	390					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CATGCTGACAGCCTTCCTTGC	0.453																																						uc002rrx.2		NaN																	0				ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(1168-1170)GCT>GTT		solute carrier family 8 (sodium/calcium	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						132.0	108.0	116.0					2																	40656252		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40656252G>A		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.1169C>T	2.37:g.40656252G>A	ENSP00000384763:p.Ala390Val					SLC8A1_uc002rry.2_Missense_Mutation_p.A390V|SLC8A1_uc002rrz.2_Missense_Mutation_p.A390V|SLC8A1_uc002rsa.2_Missense_Mutation_p.A390V|SLC8A1_uc002rsd.3_Missense_Mutation_p.A390V|SLC8A1_uc002rsb.1_Missense_Mutation_p.A390V|SLC8A1_uc010fan.1_Missense_Mutation_p.A390V|SLC8A1_uc002rsc.1_Missense_Mutation_p.A390V	p.A390V	NM_021097	NP_066920	P32418	NAC1_HUMAN			1	1193	-			390			Cytoplasmic (Potential).		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.1169C>T	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.842537	0.51057	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.28255	1.63;1.66;1.66;1.66;1.63;1.63;1.66;1.62;1.63;1.64	6.17	6.17	0.99709	.	0.047219	0.85682	D	0.000000	T	0.46328	0.1387	L	0.31926	0.97	0.80722	D	1	P;D;P;P;P	0.71674	0.94;0.998;0.88;0.555;0.9	P;D;P;B;P	0.81914	0.838;0.995;0.714;0.335;0.693	T	0.09314	-1.0680	10	0.35671	T	0.21	.	18.3732	0.90420	0.0:0.0:1.0:0.0	.	390;390;390;390;390	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	V	390	ENSP00000383886:A390V;ENSP00000440727:A390V;ENSP00000384763:A390V;ENSP00000385678:A390V;ENSP00000385188:A390V;ENSP00000385535:A390V;ENSP00000332931:A390V;ENSP00000384908:A390V;ENSP00000385811:A390V;ENSP00000443515:A390V	ENSP00000332931:A390V	A	-	2	0	SLC8A1	40509756	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.720000	0.84759	2.941000	0.99782	0.655000	0.94253	GCT		0.453	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1		NM_021097		8	15	0	0	0	0.006214	0	8	15		
CYP26B1	56603	broad.mit.edu	37	2	72371249	72371249	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:72371249C>T	ENST00000001146.2	-	2	501	c.298G>A	c.(298-300)Gag>Aag	p.E100K	CYP26B1_ENST00000546307.1_Intron|CYP26B1_ENST00000412253.1_5'Flank	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	100					bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CGCACGTTCTCCGCGCCGGTC	0.637																																						uc002sih.1		NaN																	0				skin(2)	2						c.(298-300)GAG>AAG		cytochrome P450, family 26, subfamily b,							95.0	85.0	88.0					2																	72371249		2203	4300	6503	SO:0001583	missense	56603				cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr2:72371249C>T		CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"""Cytochrome P450s"""	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.298G>A	2.37:g.72371249C>T	ENSP00000001146:p.Glu100Lys					CYP26B1_uc010yra.1_Missense_Mutation_p.E83K|CYP26B1_uc010yrb.1_Intron	p.E100K	NM_019885	NP_063938	Q9NR63	CP26B_HUMAN			2	298	-			100					B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Missense_Mutation	SNP	ENST00000001146.2	37	c.298G>A	CCDS1919.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.699961	0.88924	.	.	ENSG00000003137	ENST00000001146;ENST00000461519	T;T	0.70986	-0.53;-0.53	4.78	4.78	0.61160	.	0.057406	0.64402	D	0.000002	T	0.75606	0.3872	M	0.72118	2.19	0.80722	D	1	B;B	0.32467	0.372;0.139	B;B	0.41946	0.371;0.37	T	0.76865	-0.2801	10	0.52906	T	0.07	-8.5651	15.7678	0.78141	0.0:1.0:0.0:0.0	.	83;100	B7Z2P4;Q9NR63	.;CP26B_HUMAN	K	100;83	ENSP00000001146:E100K;ENSP00000430871:E83K	ENSP00000001146:E100K	E	-	1	0	CYP26B1	72224757	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	5.535000	0.67173	2.682000	0.91365	0.555000	0.69702	GAG		0.637	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251969.1		NM_019885		35	59	0	0	0	0.012213	0	35	59		
MTHFD2	10797	broad.mit.edu	37	2	74432979	74432979	+	Silent	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:74432979C>G	ENST00000394053.2	+	2	329	c.249C>G	c.(247-249)tcC>tcG	p.S83S	MTHFD2_ENST00000409804.1_Silent_p.S83S|MTHFD2_ENST00000477455.1_3'UTR|MTHFD2_ENST00000394050.3_Intron|MTHFD2_ENST00000264090.4_Intron|MTHFD2_ENST00000409601.1_Silent_p.S83S	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	83					folic acid-containing compound biosynthetic process (GO:0009396)|one-carbon metabolic process (GO:0006730)|tetrahydrofolate metabolic process (GO:0046653)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	magnesium ion binding (GO:0000287)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|phosphate ion binding (GO:0042301)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6					Tetrahydrofolic acid(DB00116)	CAAGTCACTCCTATGTCCTCA	0.532																																						uc002skk.2		NaN																	0					0						c.(247-249)TCC>TCG		methylenetetrahydrofolate dehydrogenase 2	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						118.0	119.0	119.0					2																	74432979		1993	4159	6152	SO:0001819	synonymous_variant	10797				folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding	g.chr2:74432979C>G	X16396	CCDS1935.2	2p13.1	2008-05-02			ENSG00000065911	ENSG00000065911			7434	protein-coding gene	gene with protein product		604887				2587219, 8218174	Standard	NR_027405		Approved		uc002skk.3	P13995	OTTHUMG00000129814	ENST00000394053.2:c.249C>G	2.37:g.74432979C>G						MTHFD2_uc002skj.2_5'UTR|MTHFD2_uc010yro.1_Intron|MTHFD2_uc010ffb.2_Silent_p.S83S|MTHFD2_uc010yrp.1_Intron	p.S83S	NM_006636	NP_006627	P13995	MTDC_HUMAN			2	328	+			83					Q53G90|Q53GV5|Q53S36|Q7Z650	Silent	SNP	ENST00000394053.2	37	c.249C>G	CCDS1935.2																																																																																				0.532	MTHFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252045.2				41	56	0	0	0	0.01441	0	41	56		
KDM3A	55818	broad.mit.edu	37	2	86669240	86669240	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:86669240G>A	ENST00000409556.1	+	3	435	c.70G>A	c.(70-72)Gac>Aac	p.D24N	KDM3A_ENST00000312912.5_Missense_Mutation_p.D24N|KDM3A_ENST00000409064.1_Missense_Mutation_p.D24N|KDM3A_ENST00000542128.1_Missense_Mutation_p.D24N			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	24				D -> G (in Ref. 2; CAH18459/CAH18373). {ECO:0000305}.	androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GTCCGCAGCCGACGGCAGCGA	0.642																																					NSCLC(96;1150 1523 6936 46253 49736)	uc002sri.3		NaN																	0				breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5						c.(70-72)GAC>AAC		jumonji domain containing 1A							70.0	71.0	71.0					2																	86669240		2203	4300	6503	SO:0001583	missense	55818				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:86669240G>A	AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"""Chromatin-modifying enzymes / K-demethylases"""	20815	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 2A"""	611512	"""jumonji domain containing 1"", ""jumonji domain containing 1A"""	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.70G>A	2.37:g.86669240G>A	ENSP00000386660:p.Asp24Asn					KDM3A_uc010ytj.1_Missense_Mutation_p.D24N|KDM3A_uc010ytk.1_Missense_Mutation_p.D24N	p.D24N	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN			2	397	+			24	D -> G (in Ref. 2; CAH18459/CAH18373).				D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP	ENST00000409556.1	37	c.70G>A	CCDS1990.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.668501	0.29604	.	.	ENSG00000115548	ENST00000452034;ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000427678;ENST00000542128	T;T;T;T	0.61859	0.21;0.21;0.21;0.07	3.63	2.54	0.30619	.	0.669153	0.13056	N	0.417264	T	0.39172	0.1068	L	0.36672	1.1	0.31310	N	0.687275	P;B	0.34546	0.456;0.327	B;B	0.26864	0.074;0.022	T	0.50415	-0.8831	10	0.62326	D	0.03	.	3.8148	0.08811	0.1862:0.0:0.5797:0.2341	.	24;24	F5H070;Q9Y4C1	.;KDM3A_HUMAN	N	24	ENSP00000386660:D24N;ENSP00000323659:D24N;ENSP00000386516:D24N;ENSP00000438324:D24N	ENSP00000323659:D24N	D	+	1	0	KDM3A	86522751	0.992000	0.36948	0.985000	0.45067	0.464000	0.32679	2.669000	0.46825	1.573000	0.49748	0.462000	0.41574	GAC		0.642	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2		NM_018433		37	50	0	0	0	0.004289	0	37	50		
EIF2AK3	9451	broad.mit.edu	37	2	88885403	88885403	+	Missense_Mutation	SNP	T	T	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:88885403T>C	ENST00000303236.3	-	9	1907	c.1606A>G	c.(1606-1608)Aca>Gca	p.T536A	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.T385A	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	536					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			ovary(3)	3						ATAAACGTTGTTGCTATGATA	0.413																																					GBM(138;671 1851 16235 39058 45249)	uc002stc.3		NaN																	0				ovary(3)	3						c.(1606-1608)ACA>GCA		eukaryotic translation initiation factor 2-alpha							189.0	170.0	176.0					2																	88885403		2203	4300	6503	SO:0001583	missense	9451				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	g.chr2:88885403T>C	AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.1606A>G	2.37:g.88885403T>C	ENSP00000307235:p.Thr536Ala						p.T536A	NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN			9	1808	-			536			Cytoplasmic (Potential).		A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Missense_Mutation	SNP	ENST00000303236.3	37	c.1606A>G	CCDS33241.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.549582	0.86127	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	T;T;T	0.42513	0.97;0.97;0.97	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.60248	0.2254	L	0.55481	1.735	0.51482	D	0.999929	D	0.69078	0.997	D	0.75020	0.985	T	0.61004	-0.7150	10	0.54805	T	0.06	-18.5553	16.0502	0.80755	0.0:0.0:0.0:1.0	.	536	Q9NZJ5	E2AK3_HUMAN	A	385;536;385;415	ENSP00000408325:T385A;ENSP00000307235:T536A;ENSP00000412076:T415A	ENSP00000307235:T536A	T	-	1	0	EIF2AK3	88666518	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	6.870000	0.75526	2.197000	0.70478	0.528000	0.53228	ACA		0.413	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2		NM_004836		14	16	0	0	0	0.00499	0	14	16		
SEMA4C	54910	broad.mit.edu	37	2	97533612	97533612	+	Silent	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:97533612G>A	ENST00000305476.5	-	2	144	c.12C>T	c.(10-12)caC>caT	p.H4H		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	4					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						AGACAGCCCAGTGTGGGGCCA	0.617																																						uc002sxh.3		NaN																	0				skin(2)	2						c.(10-12)CAC>CAT		semaphorin 4C precursor							75.0	76.0	76.0					2																	97533612		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.chr2:97533612G>A	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.12C>T	2.37:g.97533612G>A						SEMA4C_uc002sxg.3_5'Flank	p.H4H	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN			2	172	-			4					Q32MJ3|Q7Z5X0	Silent	SNP	ENST00000305476.5	37	c.12C>T	CCDS2029.1																																																																																				0.617	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252957.1		NM_017789		61	96	0	0	0	0.01441	0	61	96		
SULT1C4	27233	broad.mit.edu	37	2	108998923	108998923	+	Silent	SNP	A	A	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:108998923A>T	ENST00000272452.2	+	3	704	c.378A>T	c.(376-378)ctA>ctT	p.L126L	SULT1C4_ENST00000409309.3_Intron	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4	126					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						CATCCTTGCTAGAGAAAAACT	0.403																																						uc002tea.1		NaN																	0					0						c.(376-378)CTA>CTT		sulfotransferase family, cytosolic, 1C, member							184.0	174.0	177.0					2																	108998923		2203	4300	6503	SO:0001819	synonymous_variant	27233				3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity	g.chr2:108998923A>T	AF055584	CCDS2077.1	2q12.3	2008-09-04	2007-03-16	2007-03-16	ENSG00000198075	ENSG00000198075		"""Sulfotransferases, cytosolic"""	11457	protein-coding gene	gene with protein product		608357	"""sulfotransferase family, cytosolic, 1C, member 2"""	SULT1C2		10783263, 9852044	Standard	NM_006588		Approved	SULT1C	uc002tea.1	O75897	OTTHUMG00000130958	ENST00000272452.2:c.378A>T	2.37:g.108998923A>T						SULT1C4_uc002tdz.2_3'UTR|SULT1C4_uc010ywr.1_Intron|SULT1C4_uc002teb.1_Intron	p.L126L	NM_006588	NP_006579	O75897	ST1C4_HUMAN			3	751	+			126					Q069I8|Q08AS5|Q53S63	Silent	SNP	ENST00000272452.2	37	c.378A>T	CCDS2077.1																																																																																				0.403	SULT1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253561.1		NM_006588		102	140	0	0	0	0.01441	0	102	140		
RANBP2	5903	broad.mit.edu	37	2	109382445	109382445	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:109382445C>T	ENST00000283195.6	+	20	5576	c.5450C>T	c.(5449-5451)gCt>gTt	p.A1817V		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1817					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTGCAGAAGCTCCTTCAGCT	0.408																																						uc002tem.3		NaN																RANBP2/ALK(16)	0				soft_tissue(16)|lung(1)|pancreas(1)	18						c.(5449-5451)GCT>GTT		RAN binding protein 2							77.0	76.0	76.0					2																	109382445		2203	4300	6503	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109382445C>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.5450C>T	2.37:g.109382445C>T	ENSP00000283195:p.Ala1817Val						p.A1817V	NM_006267	NP_006258	P49792	RBP2_HUMAN			20	5576	+			1817					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.5450C>T	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	C	9.145	1.014886	0.19355	.	.	ENSG00000153201	ENST00000283195	T	0.31247	1.5	5.11	2.05	0.26809	.	.	.	.	.	T	0.19327	0.0464	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22452	-1.0216	9	0.37606	T	0.19	6.0E-4	4.4859	0.11790	0.1707:0.5525:0.0:0.2768	.	1817	P49792	RBP2_HUMAN	V	1817	ENSP00000283195:A1817V	ENSP00000283195:A1817V	A	+	2	0	RANBP2	108748877	0.000000	0.05858	0.294000	0.24946	0.445000	0.32107	0.775000	0.26689	0.212000	0.20703	-0.355000	0.07637	GCT		0.408	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1		NM_006267		6	34	0	0	0	0.001168	0	6	34		
ANAPC1	64682	broad.mit.edu	37	2	112588951	112588951	+	Missense_Mutation	SNP	T	T	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:112588951T>G	ENST00000341068.3	-	21	3309	c.2537A>C	c.(2536-2538)cAg>cCg	p.Q846P		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	846					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						ACTCACCCACTGATAAATACT	0.383																																						uc002thi.2		NaN																	0				skin(2)	2						c.(2536-2538)CAG>CCG		anaphase promoting complex subunit 1							71.0	65.0	67.0					2																	112588951		2203	4300	6503	SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112588951T>G	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.2537A>C	2.37:g.112588951T>G	ENSP00000339109:p.Gln846Pro						p.Q846P	NM_022662	NP_073153	Q9H1A4	APC1_HUMAN			21	2784	-			846					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.2537A>C	CCDS2093.1	.	.	.	.	.	.	.	.	.	.	T	11.13	1.548443	0.27652	.	.	ENSG00000153107	ENST00000341068	.	.	.	4.25	4.25	0.50352	.	0.187191	0.23793	U	0.044514	T	0.49167	0.1541	L	0.47716	1.5	0.37579	D	0.919725	B	0.29909	0.261	B	0.23150	0.044	T	0.56896	-0.7903	9	0.48119	T	0.1	-11.5295	13.6777	0.62465	0.0:0.0:0.0:1.0	.	846	Q9H1A4	APC1_HUMAN	P	846	.	ENSP00000339109:Q846P	Q	-	2	0	ANAPC1	112305422	1.000000	0.71417	0.999000	0.59377	0.905000	0.53344	4.766000	0.62279	1.695000	0.51148	0.260000	0.18958	CAG		0.383	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2		NM_022662		19	32	0	0	0	0.00278	0	19	32		
MBD5	55777	broad.mit.edu	37	2	149225912	149225912	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:149225912G>C	ENST00000407073.1	+	9	1397	c.400G>C	c.(400-402)Gca>Cca	p.A134P	MBD5_ENST00000404807.1_Missense_Mutation_p.A134P	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	134					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CACATCAGATGCAACTCCAGT	0.423																																						uc002twm.3		NaN																	0				skin(3)|ovary(2)	5						c.(400-402)GCA>CCA		methyl-CpG binding domain protein 5							35.0	35.0	35.0					2																	149225912		2203	4300	6503	SO:0001583	missense	55777					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149225912G>C	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.400G>C	2.37:g.149225912G>C	ENSP00000386049:p.Ala134Pro					MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Missense_Mutation_p.A134P|MBD5_uc002twn.1_5'Flank	p.A134P	NM_018328	NP_060798	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	9	1388	+			134					A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	37	c.400G>C	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818913	0.71028	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	T;T	0.46819	0.88;0.86	5.46	4.52	0.55395	.	0.000000	0.64402	D	0.000013	T	0.38772	0.1053	N	0.08118	0	0.50039	D	0.999841	D	0.53745	0.962	P	0.52481	0.7	T	0.42378	-0.9455	10	0.59425	D	0.04	-6.6729	12.9385	0.58329	0.0:0.0:0.716:0.284	.	134	Q9P267	MBD5_HUMAN	P	134	ENSP00000386049:A134P;ENSP00000384672:A134P	ENSP00000384672:A134P	A	+	1	0	MBD5	148942382	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.726000	0.61986	2.571000	0.86741	0.591000	0.81541	GCA		0.423	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2				4	5	0	0	0	0.009096	0	4	5		
COBLL1	22837	broad.mit.edu	37	2	165551575	165551575	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:165551575G>C	ENST00000392717.2	-	13	2559	c.2555C>G	c.(2554-2556)aCt>aGt	p.T852S	COBLL1_ENST00000375458.2_Missense_Mutation_p.T776S|COBLL1_ENST00000194871.6_Missense_Mutation_p.T881S|COBLL1_ENST00000409184.3_Missense_Mutation_p.T814S|COBLL1_ENST00000342193.4_Missense_Mutation_p.T814S			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	852						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TTGGATGGCAGTTTCTTTCAC	0.428																																						uc010zcw.1		NaN																	0				ovary(2)|pancreas(1)	3						c.(2641-2643)ACT>AGT		COBL-like 1							148.0	146.0	147.0					2																	165551575		2203	4300	6503	SO:0001583	missense	22837							g.chr2:165551575G>C	AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.2555C>G	2.37:g.165551575G>C	ENSP00000376478:p.Thr852Ser					COBLL1_uc002ucp.2_Missense_Mutation_p.T814S|COBLL1_uc002ucq.2_Missense_Mutation_p.T776S|COBLL1_uc010zcx.1_Missense_Mutation_p.T822S|COBLL1_uc002ucn.2_Missense_Mutation_p.T242S|COBLL1_uc002uco.2_Missense_Mutation_p.T545S	p.T881S	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN			15	2766	-			852					A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	ENST00000392717.2	37	c.2642C>G		.	.	.	.	.	.	.	.	.	.	G	5.494	0.276118	0.10403	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	6.04	4.26	0.50523	.	0.650636	0.15788	N	0.244615	T	0.29976	0.0750	L	0.41236	1.265	0.20873	N	0.999839	B;B;B	0.25955	0.04;0.083;0.138	B;B;B	0.19946	0.013;0.018;0.027	T	0.20438	-1.0275	9	0.12430	T	0.62	-5.5271	9.2299	0.37430	0.2674:0.0:0.7326:0.0	.	852;881;814	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	S	776;814;814;852;881	.	ENSP00000194871:T881S	T	-	2	0	COBLL1	165259821	0.796000	0.28864	0.586000	0.28679	0.992000	0.81027	1.543000	0.36147	0.903000	0.36546	0.563000	0.77884	ACT		0.428	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_014900		25	30	0	0	0	0.00278	0	25	30		
CCDC173	129881	broad.mit.edu	37	2	170505817	170505817	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:170505817C>T	ENST00000447353.1	-	8	1297	c.1192G>A	c.(1192-1194)Gag>Aag	p.E398K		NM_001085447.1	NP_001078916.1	Q0VFZ6	CC173_HUMAN	coiled-coil domain containing 173	398																	TCTTTAGCCTCTATTTTTCTT	0.343																																						uc002ufe.2		NaN																	0					0						c.(1192-1194)GAG>AAG		hypothetical protein LOC129881							117.0	106.0	109.0					2																	170505817		1825	4097	5922	SO:0001583	missense	129881							g.chr2:170505817C>T	BC015980, BC117445	CCDS46445.1	2q31.1	2012-08-07	2012-08-07	2012-08-07	ENSG00000154479	ENSG00000154479			25064	protein-coding gene	gene with protein product	"""hypothetical LOC129881"""		"""chromosome 2 open reading frame 77"""	C2orf77		12477932	Standard	NM_001085447		Approved	LOC129881	uc002ufe.2	Q0VFZ6	OTTHUMG00000154116	ENST00000447353.1:c.1192G>A	2.37:g.170505817C>T	ENSP00000391504:p.Glu398Lys						p.E398K	NM_001085447	NP_001078916	Q0VFZ6	CB077_HUMAN			8	1286	-			398			Potential.		Q6PJF6	Missense_Mutation	SNP	ENST00000447353.1	37	c.1192G>A	CCDS46445.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.426168	0.43020	.	.	ENSG00000154479	ENST00000447353	T	0.12774	2.65	4.98	4.11	0.48088	.	.	.	.	.	T	0.18173	0.0436	L	0.39085	1.19	0.33206	D	0.55282	P	0.40360	0.714	P	0.48952	0.596	T	0.15435	-1.0437	9	0.28530	T	0.3	.	12.5286	0.56100	0.0:0.9169:0.0:0.0831	.	398	Q0VFZ6	CB077_HUMAN	K	398	ENSP00000391504:E398K	ENSP00000391504:E398K	E	-	1	0	C2orf77	170214063	1.000000	0.71417	0.937000	0.37676	0.951000	0.60555	2.293000	0.43558	1.235000	0.43724	0.467000	0.42956	GAG		0.343	CCDC173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333954.2		NM_001085447		12	30	0	0	0	0.00245	0	12	30		
SLC25A12	8604	broad.mit.edu	37	2	172669944	172669944	+	Missense_Mutation	SNP	C	C	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:172669944C>A	ENST00000422440.2	-	11	1113	c.1076G>T	c.(1075-1077)gGc>gTc	p.G359V	SLC25A12_ENST00000392592.4_Missense_Mutation_p.G252V	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	359					aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	AGAGCCAGAGCCACGCTGGTT	0.443																																						uc002uhh.2		NaN																	0					0						c.(1075-1077)GGC>GTC		solute carrier family 25, member 12	L-Aspartic Acid(DB00128)						125.0	119.0	121.0					2																	172669944		2203	4300	6503	SO:0001583	missense	8604				gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding	g.chr2:172669944C>A	Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"""Solute carriers"", ""EF-hand domain containing"""	10982	protein-coding gene	gene with protein product		603667	"""solute carrier family 25 (mitochondrial carrier, Aralar), member 12"""			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.1076G>T	2.37:g.172669944C>A	ENSP00000388658:p.Gly359Val					SLC25A12_uc010fqh.2_Missense_Mutation_p.G252V	p.G359V	NM_003705	NP_003696	O75746	CMC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		11	1165	-			359			Solcar 1.		B3KR64|Q96AM8	Missense_Mutation	SNP	ENST00000422440.2	37	c.1076G>T	CCDS33327.1	.	.	.	.	.	.	.	.	.	.	c	15.59	2.878853	0.51801	.	.	ENSG00000115840	ENST00000422440;ENST00000392592	T;T	0.78246	-1.16;-1.16	4.96	4.96	0.65561	Mitochondrial carrier domain (2);	0.106386	0.64402	D	0.000005	T	0.62624	0.2443	N	0.12887	0.27	0.58432	D	0.999999	B;P	0.35307	0.033;0.494	B;B	0.39339	0.043;0.297	T	0.64183	-0.6467	10	0.42905	T	0.14	-8.9493	9.0358	0.36287	0.1388:0.6557:0.2055:0.0	.	252;359	B3KR64;O75746	.;CMC1_HUMAN	V	359;252	ENSP00000388658:G359V;ENSP00000376371:G252V	ENSP00000376371:G252V	G	-	2	0	SLC25A12	172378190	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.950000	0.63603	2.293000	0.77203	0.484000	0.47621	GGC		0.443	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259010.2		NM_003705		43	66	1	0	3.10996e-30	0.01441	3.6109e-30	43	66		
NFE2L2	4780	broad.mit.edu	37	2	178098945	178098945	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:178098945G>C	ENST00000397062.3	-	2	654	c.100C>G	c.(100-102)Cga>Gga	p.R34G	NFE2L2_ENST00000423513.1_Missense_Mutation_p.R18G|NFE2L2_ENST00000446151.2_Missense_Mutation_p.R18G|NFE2L2_ENST00000464747.1_Missense_Mutation_p.R18G|NFE2L2_ENST00000397063.4_Missense_Mutation_p.R18G	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	34					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R34G(4)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AATACTTCTCGACTTACTCCA	0.368			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												uc002ulh.3		NaN		Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			NSCLC|HNSCC		4	Substitution - Missense(4)		lung(2)|endometrium(2)	central_nervous_system(1)	1						c.(100-102)CGA>GGA		nuclear factor erythroid 2-like 2 isoform 1							75.0	68.0	70.0					2																	178098945		1847	4103	5950	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178098945G>C		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.100C>G	2.37:g.178098945G>C	ENSP00000380252:p.Arg34Gly	HNSCC(56;0.16)				NFE2L2_uc002ulg.3_Missense_Mutation_p.R18G|NFE2L2_uc010zfa.1_Missense_Mutation_p.R18G|NFE2L2_uc002uli.3_Missense_Mutation_p.R18G|NFE2L2_uc010fra.2_Missense_Mutation_p.R18G|NFE2L2_uc010frb.2_Missense_Mutation_p.R18G	p.R34G	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		2	655	-			34					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.100C>G	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.190279	0.58017	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41;1.41	5.78	2.87	0.33458	.	0.000000	0.85682	D	0.000000	T	0.60011	0.2236	M	0.86740	2.835	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.995;0.998;0.998	T	0.66862	-0.5816	10	0.72032	D	0.01	.	14.8506	0.70295	0.0:0.0:0.6243:0.3757	.	18;18;18;34	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	G	18;34;18;18;18;18;18	ENSP00000380253:R18G;ENSP00000380252:R34G;ENSP00000411575:R18G;ENSP00000391590:R18G;ENSP00000400073:R18G;ENSP00000412191:R18G;ENSP00000410015:R18G	ENSP00000380252:R34G	R	-	1	2	NFE2L2	177807191	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.376000	0.73141	0.300000	0.22699	0.563000	0.77884	CGA		0.368	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4		NM_006164		12	15	0	0	0	0.010729	0	12	15		
NIF3L1	60491	broad.mit.edu	37	2	201761879	201761879	+	Missense_Mutation	SNP	A	A	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:201761879A>G	ENST00000409020.1	+	5	1101	c.807A>G	c.(805-807)atA>atG	p.I269M	RNU6-762P_ENST00000517107.1_RNA|NIF3L1_ENST00000359683.4_Missense_Mutation_p.I242M|NIF3L1_ENST00000409357.1_Missense_Mutation_p.I269M|NIF3L1_ENST00000416651.1_Missense_Mutation_p.I269M|NIF3L1_ENST00000409588.1_Intron			Q9GZT8	GTPC1_HUMAN	NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)	269					7,8-dihydroneopterin 3'-triphosphate biosynthetic process (GO:0035998)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTP cyclohydrolase I activity (GO:0003934)|metal ion binding (GO:0046872)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						TTGATCGAATAAAAAGACACC	0.428																																						uc002uwm.2		NaN																	0				skin(1)	1						c.(805-807)ATA>ATG		NIF3 NGG1 interacting factor 3-like 1 isoform 1							130.0	120.0	123.0					2																	201761879		1914	4121	6035	SO:0001583	missense	60491				positive regulation of transcription, DNA-dependent		transcription factor binding	g.chr2:201761879A>G	AB038949	CCDS42797.1, CCDS46485.1, CCDS46486.1	2q33	2011-11-10	2011-11-10		ENSG00000196290	ENSG00000196290			13390	protein-coding gene	gene with protein product		605778	"""NIF3 (Ngg1 interacting factor 3, S.pombe homolog)-like 1"", ""NIF3 NGG1 interacting factor 3-like 1 (S. pombe)"""	ALS2CR1		11124544, 11161814, 12522100	Standard	NM_001136039		Approved	CALS-7, MDS015	uc002uwm.2	Q9GZT8	OTTHUMG00000154588	ENST00000409020.1:c.807A>G	2.37:g.201761879A>G	ENSP00000386394:p.Ile269Met					NIF3L1_uc002uwl.2_Missense_Mutation_p.I242M|NIF3L1_uc002uwn.2_Missense_Mutation_p.I242M|NIF3L1_uc002uwo.2_Missense_Mutation_p.I269M|NIF3L1_uc002uwp.2_Missense_Mutation_p.I269M|NIF3L1_uc002uwq.2_Intron	p.I269M	NM_001136039	NP_001129511	Q9GZT8	NIF3L_HUMAN			5	898	+			269					Q53TX4|Q6X735|Q9H2D2|Q9HC18	Missense_Mutation	SNP	ENST00000409020.1	37	c.807A>G	CCDS46485.1	.	.	.	.	.	.	.	.	.	.	A	16.86	3.238020	0.58886	.	.	ENSG00000196290	ENST00000416651;ENST00000409020;ENST00000359683;ENST00000409357	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	6.01	2.19	0.27852	.	0.197197	0.53938	D	0.000044	T	0.52403	0.1732	L	0.56340	1.77	0.40082	D	0.976148	P	0.49253	0.921	P	0.58721	0.844	T	0.49986	-0.8880	10	0.59425	D	0.04	-17.3638	4.6061	0.12378	0.1172:0.5349:0.2234:0.1245	.	269	Q9GZT8	NIF3L_HUMAN	M	269;269;242;269	ENSP00000400787:I269M;ENSP00000386394:I269M;ENSP00000352711:I242M;ENSP00000387315:I269M	ENSP00000352711:I242M	I	+	3	3	NIF3L1	201470124	0.975000	0.34042	0.999000	0.59377	0.949000	0.60115	0.109000	0.15417	0.124000	0.18369	-0.144000	0.13903	ATA		0.428	NIF3L1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336201.1		NM_021824		33	45	0	0	0	0.004289	0	33	45		
NRP2	8828	broad.mit.edu	37	2	206588590	206588590	+	Missense_Mutation	SNP	T	T	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:206588590T>G	ENST00000357785.5	+	5	777	c.746T>G	c.(745-747)tTt>tGt	p.F249C	NRP2_ENST00000417189.1_Missense_Mutation_p.F249C|NRP2_ENST00000360409.3_Missense_Mutation_p.F249C|NRP2_ENST00000355117.4_Missense_Mutation_p.F249C|NRP2_ENST00000272849.3_Missense_Mutation_p.F249C|NRP2_ENST00000540841.1_Missense_Mutation_p.F249C|NRP2_ENST00000412873.2_Missense_Mutation_p.F249C|NRP2_ENST00000357118.4_Missense_Mutation_p.F249C|NRP2_ENST00000540178.1_Missense_Mutation_p.F249C			Q99435	NELL2_HUMAN	neuropilin 2	0						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TCCCTGACCTTTCACACGGAC	0.552																																						uc002vaw.2		NaN																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(745-747)TTT>TGT		neuropilin 2 isoform 1 precursor							98.0	86.0	90.0					2																	206588590		2203	4300	6503	SO:0001583	missense	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206588590T>G	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.746T>G	2.37:g.206588590T>G	ENSP00000350432:p.Phe249Cys					NRP2_uc002vat.2_Missense_Mutation_p.F249C|NRP2_uc002vau.2_Missense_Mutation_p.F249C|NRP2_uc002vav.2_Missense_Mutation_p.F249C|NRP2_uc002vax.2_Missense_Mutation_p.F249C|NRP2_uc002vay.2_Missense_Mutation_p.F249C|NRP2_uc010fud.2_Missense_Mutation_p.F249C	p.F249C	NM_201266	NP_957718	O60462	NRP2_HUMAN			5	1537	+			249			Extracellular (Potential).|CUB 2.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357785.5	37	c.746T>G	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	T	32	5.107466	0.94292	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000355117;ENST00000417189;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	T;T;T;T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26	5.91	5.91	0.95273	CUB (5);	0.000000	0.85682	D	0.000000	T	0.75895	0.3912	H	0.98426	4.23	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;0.998;1.0;1.0;0.999	D	0.85899	0.1433	10	0.87932	D	0	-17.5495	16.3436	0.83110	0.0:0.0:0.0:1.0	.	249;249;249;249;249;249	O60462-2;O60462-3;O60462;O60462-4;O60462-5;E9PF66	.;.;NRP2_HUMAN;.;.;.	C	249	ENSP00000353582:F249C;ENSP00000439658:F249C;ENSP00000439261:F249C;ENSP00000347238:F249C;ENSP00000387519:F249C;ENSP00000349632:F249C;ENSP00000350432:F249C;ENSP00000407626:F249C;ENSP00000272849:F249C	ENSP00000272849:F249C	F	+	2	0	NRP2	206296835	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	8.040000	0.89188	2.269000	0.75478	0.533000	0.62120	TTT		0.552	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1				15	16	0	0	0	0.003163	0	15	16		
MDH1B	130752	broad.mit.edu	37	2	207620047	207620047	+	Missense_Mutation	SNP	G	G	A	rs375320635		TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:207620047G>A	ENST00000374412.3	-	5	871	c.596C>T	c.(595-597)aCg>aTg	p.T199M	MDH1B_ENST00000449792.1_Missense_Mutation_p.T101M|MDH1B_ENST00000454776.2_Missense_Mutation_p.T199M|MDH1B_ENST00000392214.2_Intron	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	199					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		CTCCACCTTCGTGCAGATGGA	0.572																																					Pancreas(76;29 1355 28675 37177 51207)	uc002vbs.2		NaN																	0				ovary(3)|kidney(1)	4						c.(595-597)ACG>ATG		malate dehydrogenase 1B, NAD (soluble)		G	MET/THR	0,4406		0,0,2203	79.0	71.0	74.0		596	4.8	0.9	2		74	1,8599	1.2+/-3.3	0,1,4299	no	missense	MDH1B	NM_001039845.1	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	199/519	207620047	1,13005	2203	4300	6503	SO:0001583	missense	130752				carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity	g.chr2:207620047G>A		CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.596C>T	2.37:g.207620047G>A	ENSP00000363533:p.Thr199Met					MDH1B_uc010ziw.1_Intron|MDH1B_uc010fui.2_Missense_Mutation_p.T199M|MDH1B_uc010fuj.2_Missense_Mutation_p.T101M|MDH1B_uc002vbt.2_Intron	p.T199M	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)	5	651	-			199					A8K8M1|Q53TK9|Q8IV51	Missense_Mutation	SNP	ENST00000374412.3	37	c.596C>T	CCDS33365.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.813041	0.70912	0.0	1.16E-4	ENSG00000138400	ENST00000374412;ENST00000449792;ENST00000454776	T;T;T	0.06294	3.32;3.32;3.32	5.68	4.78	0.61160	NAD(P)-binding domain (1);	0.053638	0.85682	D	0.000000	T	0.26484	0.0647	M	0.85462	2.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.962	T	0.02574	-1.1139	10	0.72032	D	0.01	-17.5401	11.6901	0.51510	0.0:0.1342:0.7264:0.1395	.	199;199	Q5I0G3-2;Q5I0G3	.;MDH1B_HUMAN	M	199;101;199	ENSP00000363533:T199M;ENSP00000416577:T101M;ENSP00000389916:T199M	ENSP00000363533:T199M	T	-	2	0	MDH1B	207328292	1.000000	0.71417	0.875000	0.34327	0.006000	0.05464	4.814000	0.62627	1.495000	0.48549	0.650000	0.86243	ACG		0.572	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256429.2		NM_001039845		10	29	0	0	0	0.010729	0	10	29		
OBSL1	23363	broad.mit.edu	37	2	220427307	220427307	+	Missense_Mutation	SNP	G	G	A	rs545493745		TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:220427307G>A	ENST00000404537.1	-	8	2826	c.2770C>T	c.(2770-2772)Cgg>Tgg	p.R924W	OBSL1_ENST00000603926.1_Missense_Mutation_p.R924W|OBSL1_ENST00000373876.1_Missense_Mutation_p.R924W|OBSL1_ENST00000373873.4_Missense_Mutation_p.R924W|RP11-256I23.2_ENST00000597192.1_RNA|OBSL1_ENST00000265318.4_Missense_Mutation_p.R924W|OBSL1_ENST00000289656.3_Missense_Mutation_p.R511W	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	924	Ig-like 7.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GCCCAGGGCCGGCATAGCTCA	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		18345	0.0		0.0	False		,,,				2504	0.001					uc010fwk.2		NaN																	0					0						c.(2770-2772)CGG>TGG		obscurin-like 1							43.0	50.0	47.0					2																	220427307		2202	4297	6499	SO:0001583	missense	23363				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	g.chr2:220427307G>A	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.2770C>T	2.37:g.220427307G>A	ENSP00000385636:p.Arg924Trp					OBSL1_uc010zli.1_5'UTR|OBSL1_uc010fwl.1_Missense_Mutation_p.R399W|OBSL1_uc002vmi.2_Missense_Mutation_p.R924W|OBSL1_uc002vmj.2_Missense_Mutation_p.R511W	p.R924W	NM_015311	NP_056126	O75147	OBSL1_HUMAN		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)	8	2827	-		Renal(207;0.0376)	924			Ig-like 7.		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	ENST00000404537.1	37	c.2770C>T	CCDS46520.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181211	0.78677	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000373873;ENST00000289656	T;T;T;T;T	0.04970	3.52;3.52;3.52;3.52;3.52	4.62	3.72	0.42706	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.23572	0.0570	M	0.84156	2.68	0.50039	D	0.999842	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.995;0.986;0.992	T	0.00561	-1.1670	9	0.59425	D	0.04	.	8.476	0.33014	0.0823:0.0:0.7626:0.1551	.	925;924;511;924	A4KVA4;O75147;A8MSZ8;O75147-2	.;OBSL1_HUMAN;.;.	W	924;924;924;924;511	ENSP00000265318:R924W;ENSP00000385636:R924W;ENSP00000362983:R924W;ENSP00000362980:R924W;ENSP00000289656:R511W	ENSP00000265318:R924W	R	-	1	2	OBSL1	220135551	0.686000	0.27661	1.000000	0.80357	0.917000	0.54804	0.832000	0.27490	1.044000	0.40200	0.591000	0.81541	CGG		0.652	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1				5	22	0	0	0	0.001984	0	5	22		
TRIP12	9320	broad.mit.edu	37	2	230650558	230650558	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:230650558C>T	ENST00000283943.5	-	33	4962	c.4784G>A	c.(4783-4785)cGa>cAa	p.R1595Q	TRIP12_ENST00000389045.3_Missense_Mutation_p.R1325Q|TRIP12_ENST00000389044.4_Missense_Mutation_p.R1643Q	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1595					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CAGCTCCTCTCGGTTCACAGT	0.453																																						uc002vpw.1		NaN																	0				ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9						c.(4783-4785)CGA>CAA		thyroid hormone receptor interactor 12							94.0	95.0	95.0					2																	230650558		2203	4300	6503	SO:0001583	missense	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230650558C>T	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.4784G>A	2.37:g.230650558C>T	ENSP00000283943:p.Arg1595Gln					TRIP12_uc002vpx.1_Missense_Mutation_p.R1643Q|TRIP12_uc002vpy.1_Missense_Mutation_p.R1325Q	p.R1595Q	NM_004238	NP_004229	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	33	4893	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	1595					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	c.4784G>A	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	C	36	5.843249	0.97016	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.62941	-0.01;-0.01;-0.01	5.36	5.36	0.76844	HECT (2);	0.000000	0.85682	D	0.000000	T	0.80954	0.4723	M	0.82716	2.605	0.80722	D	1	D;D;D	0.71674	0.994;0.998;0.994	P;D;P	0.66602	0.885;0.945;0.885	D	0.83535	0.0093	10	0.87932	D	0	.	19.4524	0.94873	0.0:1.0:0.0:0.0	.	1325;1643;1595	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	Q	1595;1325;1643	ENSP00000283943:R1595Q;ENSP00000373697:R1325Q;ENSP00000373696:R1643Q	ENSP00000283943:R1595Q	R	-	2	0	TRIP12	230358802	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.405000	0.80007	2.661000	0.90470	0.585000	0.79938	CGA		0.453	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3		NM_004238		20	27	0	0	0	0.008871	0	20	27		
COL6A3	1293	broad.mit.edu	37	2	238305412	238305412	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:238305412G>A	ENST00000295550.4	-	2	501	c.49C>T	c.(49-51)Ctc>Ttc	p.L17F	COL6A3_ENST00000392004.3_Missense_Mutation_p.L17F|COL6A3_ENST00000472056.1_Missense_Mutation_p.L17F|COL6A3_ENST00000347401.3_Missense_Mutation_p.L17F|COL6A3_ENST00000409809.1_Missense_Mutation_p.L17F|COL6A3_ENST00000353578.4_Missense_Mutation_p.L17F|COL6A3_ENST00000346358.4_Missense_Mutation_p.L17F|COL6A3_ENST00000392003.2_Missense_Mutation_p.L17F	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	17					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AAGCCTGAGAGAAAGAGGCAA	0.413																																						uc002vwl.2		NaN																	0				ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(49-51)CTC>TTC		alpha 3 type VI collagen isoform 1 precursor							118.0	121.0	120.0					2																	238305412		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238305412G>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.49C>T	2.37:g.238305412G>A	ENSP00000295550:p.Leu17Phe					COL6A3_uc002vwo.2_Missense_Mutation_p.L17F|COL6A3_uc010znj.1_Missense_Mutation_p.L17F|COL6A3_uc002vwq.2_Missense_Mutation_p.L17F|COL6A3_uc002vwr.2_Missense_Mutation_p.L17F|COL6A3_uc010znk.1_Missense_Mutation_p.L17F	p.L17F	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	2	334	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	17					A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.49C>T	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.343112	0.41498	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003;ENST00000433762	T;T;T;D;T;T;T;T;T	0.89681	-1.22;-1.22;-1.19;-2.55;-1.19;-1.22;-1.19;-0.12;-1.22	5.46	1.21	0.21127	.	0.146955	0.31156	N	0.008146	T	0.79747	0.4499	L	0.38531	1.155	0.21445	N	0.999684	B;B;B;B;B;B	0.29136	0.004;0.004;0.001;0.01;0.234;0.001	B;B;B;B;B;B	0.27887	0.002;0.004;0.003;0.009;0.084;0.001	T	0.65500	-0.6153	10	0.30078	T	0.28	.	6.5248	0.22295	0.3283:0.1359:0.5358:0.0	.	17;17;17;17;17;17	E9PCV6;E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;.;CO6A3_HUMAN	F	17	ENSP00000295550:L17F;ENSP00000315609:L17F;ENSP00000315873:L17F;ENSP00000418285:L17F;ENSP00000386844:L17F;ENSP00000295546:L17F;ENSP00000375861:L17F;ENSP00000375860:L17F;ENSP00000389539:L17F	ENSP00000295550:L17F	L	-	1	0	COL6A3	237970151	1.000000	0.71417	0.985000	0.45067	0.928000	0.56348	1.675000	0.37555	0.257000	0.21650	0.650000	0.86243	CTC		0.413	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2		NM_004369		9	56	0	0	0	0.008291	0	9	56		
RBCK1	10616	broad.mit.edu	37	20	389408	389408	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr20:389408G>A	ENST00000356286.5	+	1	712	c.7G>A	c.(7-9)Gag>Aag	p.E3K	RBCK1_ENST00000400245.3_3'UTR|RBCK1_ENST00000353660.3_Missense_Mutation_p.R9Q|RBCK1_ENST00000400247.3_Missense_Mutation_p.R9Q|RBCK1_ENST00000475269.1_Missense_Mutation_p.E3K|RBCK1_ENST00000382181.2_5'UTR	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	3	Interaction with IRF3.|Interaction with TAB2.				negative regulation of necroptotic process (GO:0060546)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				CCAGATGGACGAGAAGACCAA	0.682																																						uc002wdp.3		NaN																	0					0						c.(7-9)GAG>AAG		RanBP-type and C3HC4-type zinc finger containing							56.0	46.0	49.0					20																	389408		2198	4298	6496	SO:0001583	missense	10616				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr20:389408G>A	U67322	CCDS12998.1, CCDS13000.2	20p13	2014-09-17	2006-06-28	2006-06-28	ENSG00000125826	ENSG00000125826		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, RAN-binding domain containing"""	15864	protein-coding gene	gene with protein product	"""heme-oxidized IRP2 ubiquitin ligase 1"""	610924	"""chromosome 20 open reading frame 18"""	C20orf18			Standard	NM_031229		Approved	RBCK2, XAP4, RNF54, ZRANB4, UBCE7IP3, HOIL1	uc002wdp.4	Q9BYM8	OTTHUMG00000031634	ENST00000356286.5:c.7G>A	20.37:g.389408G>A	ENSP00000348632:p.Glu3Lys					RBCK1_uc010zpl.1_Missense_Mutation_p.E3K|RBCK1_uc010zpm.1_RNA|RBCK1_uc002wdq.3_Missense_Mutation_p.R9Q|RBCK1_uc010fzy.2_RNA|RBCK1_uc002wdr.3_5'UTR|RBCK1_uc002wdo.2_RNA	p.E3K	NM_031229	NP_112506	Q9BYM8	HOIL1_HUMAN			1	700	+		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)	3			Interaction with IRF3.|Interaction with TAB2.		O95623|Q86SL2|Q96BS3|Q9BYM9	Missense_Mutation	SNP	ENST00000356286.5	37	c.7G>A	CCDS13000.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.65|17.65	3.441521|3.441521	0.63067|0.63067	.|.	.|.	ENSG00000125826|ENSG00000125826	ENST00000411647;ENST00000356286;ENST00000475269;ENST00000441733;ENST00000400244;ENST00000400243|ENST00000353660;ENST00000400247	T;T;T|T	0.48522|0.18338	0.81;2.19;0.81|2.22	3.95|3.95	3.95|3.95	0.45737|0.45737	.|.	0.716122|.	0.10773|.	U|.	0.635752|.	T|T	0.36166|0.36166	0.0957|0.0957	.|.	.|.	.|.	0.22873|0.22873	N|N	0.998622|0.998622	P|D	0.35551|0.61697	0.509|0.99	B|D	0.22880|0.66847	0.042|0.947	T|T	0.04991|0.04991	-1.0913|-1.0913	9|8	0.87932|0.54805	D|T	0|0.06	-18.2483|-18.2483	11.6755|11.6755	0.51427|0.51427	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3|9	Q9BYM8|Q9BYM8-3	HOIL1_HUMAN|.	K|Q	3|9	ENSP00000415080:E3K;ENSP00000348632:E3K;ENSP00000387799:E3K|ENSP00000254960:R9Q	ENSP00000348632:E3K|ENSP00000254960:R9Q	E|R	+|+	1|2	0|0	RBCK1|RBCK1	337408|337408	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	4.614000|4.614000	0.61183|0.61183	2.207000|2.207000	0.71202|0.71202	0.555000|0.555000	0.69702|0.69702	GAG|CGA		0.682	RBCK1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077461.3		NM_031229		11	8	0	0	0	0.013537	0	11	8		
SNRPB	6628	broad.mit.edu	37	20	2443347	2443347	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr20:2443347G>C	ENST00000438552.2	-	6	782	c.620C>G	c.(619-621)cCt>cGt	p.P207R	SNRPB_ENST00000381342.2_Missense_Mutation_p.P207R|SNRPB_ENST00000339610.6_Missense_Mutation_p.P128R|SNORD119_ENST00000515997.1_RNA	NM_198216.1	NP_937859.1	P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptides B and B1	207	Repeat-rich region.				gene expression (GO:0010467)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|histone pre-mRNA 3'end processing complex (GO:0071204)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	histone pre-mRNA DCP binding (GO:0071208)|poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						CCCTCTTCCAGGGGGGATCCC	0.587																																						uc002wfz.1		NaN																	0				ovary(1)	1						c.(619-621)CCT>CGT		small nuclear ribonucleoprotein polypeptide B/B'							39.0	44.0	42.0					20																	2443347		2196	4291	6487	SO:0001583	missense	6628				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|protein binding|RNA binding	g.chr20:2443347G>C		CCDS13026.1, CCDS13027.1	20p13	2011-10-11			ENSG00000125835	ENSG00000125835			11153	protein-coding gene	gene with protein product		182282		SNRPB1		1376292	Standard	NM_003091		Approved	COD, SmB/SmB', Sm-B/B', snRNP-B	uc002wfz.1	P14678	OTTHUMG00000031694	ENST00000438552.2:c.620C>G	20.37:g.2443347G>C	ENSP00000412566:p.Pro207Arg					SNRPB_uc002wga.1_Missense_Mutation_p.P207R|SNRPB_uc010zpv.1_Missense_Mutation_p.P128R|SNRPB_uc002wgb.2_Missense_Mutation_p.P207R	p.P207R	NM_198216	NP_937859	P14678	RSMB_HUMAN			6	783	-			207			Repeat-rich region.		Q15490|Q6IB35|Q9UIS5	Missense_Mutation	SNP	ENST00000438552.2	37	c.620C>G	CCDS13026.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.283620	0.59867	.	.	ENSG00000125835	ENST00000381342;ENST00000438552;ENST00000303103;ENST00000339610	T;T	0.49720	0.77;0.78	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.70727	0.3257	M	0.77616	2.38	0.80722	D	1	D;D;D;D	0.71674	0.994;0.998;0.998;0.998	D;D;D;D	0.76071	0.987;0.987;0.987;0.987	T	0.73142	-0.4076	10	0.87932	D	0	.	17.6803	0.88241	0.0:0.0:1.0:0.0	.	128;207;207;207	A8MT02;B4DVS0;Q66K91;P14678	.;.;.;RSMB_HUMAN	R	207;207;207;128	ENSP00000370746:P207R;ENSP00000412566:P207R	ENSP00000303591:P207R	P	-	2	0	SNRPB	2391347	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.441000	0.97557	2.775000	0.95449	0.655000	0.94253	CCT		0.587	SNRPB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077585.2				24	80	0	0	0	0.014323	0	24	80		
INSM1	3642	broad.mit.edu	37	20	20349839	20349839	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr20:20349839C>G	ENST00000310227.1	+	1	1075	c.928C>G	c.(928-930)Ctg>Gtg	p.L310V		NM_002196.2	NP_002187.1	Q01101	INSM1_HUMAN	insulinoma-associated 1	310					adrenal chromaffin cell differentiation (GO:0061104)|cell cycle (GO:0007049)|endocrine pancreas development (GO:0031018)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|noradrenergic neuron development (GO:0003358)|norepinephrine biosynthetic process (GO:0042421)|pancreatic A cell differentiation (GO:0003310)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neural precursor cell proliferation (GO:2000179)|regulation of gene expression (GO:0010468)|regulation of protein complex assembly (GO:0043254)|sympathetic ganglion development (GO:0061549)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell differentiation (GO:0003309)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|cyclin binding (GO:0030332)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			liver(1)|lung(3)|ovary(1)|prostate(1)	6				READ - Rectum adenocarcinoma(2;0.0649)		CCCGGCCAACCTGGCCTCGCA	0.746																																						uc002wrx.2		NaN																	0				ovary(1)	1						c.(928-930)CTG>GTG		insulinoma-associated 1							8.0	8.0	8.0					20																	20349839		2067	4040	6107	SO:0001583	missense	3642				endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:20349839C>G		CCDS13143.1	20p11.2	2012-07-10			ENSG00000173404	ENSG00000173404			6090	protein-coding gene	gene with protein product		600010				8188699, 16569215	Standard	NM_002196		Approved	IA-1, IA1	uc002wrx.3	Q01101	OTTHUMG00000032004	ENST00000310227.1:c.928C>G	20.37:g.20349839C>G	ENSP00000312631:p.Leu310Val						p.L310V	NM_002196	NP_002187	Q01101	INSM1_HUMAN		READ - Rectum adenocarcinoma(2;0.0649)	1	1075	+			310			C2H2-type 2.			Missense_Mutation	SNP	ENST00000310227.1	37	c.928C>G	CCDS13143.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.314453	0.60524	.	.	ENSG00000173404	ENST00000310227	T	0.74526	-0.85	3.93	3.93	0.45458	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	U	0.000021	D	0.85500	0.5711	M	0.84433	2.695	0.58432	D	0.99999	D	0.89917	1.0	D	0.87578	0.998	D	0.86978	0.2102	10	0.87932	D	0	.	9.8453	0.41024	0.0:0.9013:0.0:0.0987	.	310	Q01101	INSM1_HUMAN	V	310	ENSP00000312631:L310V	ENSP00000312631:L310V	L	+	1	2	INSM1	20297839	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.604000	0.54081	1.913000	0.55393	0.306000	0.20318	CTG		0.746	INSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078223.1		NM_002196		7	7	0	0	0	0.00308	0	7	7		
GDF5	8200	broad.mit.edu	37	20	34022485	34022485	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr20:34022485C>T	ENST00000374372.1	-	4	1231	c.728G>A	c.(727-729)cGg>cAg	p.R243Q	GDF5OS_ENST00000374375.1_Missense_Mutation_p.R177C|GDF5_ENST00000374369.3_Missense_Mutation_p.R243Q			P43026	GDF5_HUMAN	growth differentiation factor 5	243					cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix organization (GO:0030198)|forelimb morphogenesis (GO:0035136)|growth (GO:0040007)|hindlimb morphogenesis (GO:0035137)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuron differentiation (GO:0045666)|regulation of multicellular organism growth (GO:0040014)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			GGGCTTCTTCCGCAAGATCCG	0.687																																						uc002xck.1		NaN																	0					0						c.(727-729)CGG>CAG		growth differentiation factor 5 preproprotein							55.0	59.0	58.0					20																	34022485		2203	4300	6503	SO:0001583	missense	8200				cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr20:34022485C>T	X80915	CCDS13254.1	20q11.2	2008-05-22	2007-04-12		ENSG00000125965	ENSG00000125965			4220	protein-coding gene	gene with protein product	"""cartilage-derived morphogenetic protein-1"""	601146				9288091, 9288098	Standard	NM_000557		Approved	CDMP1, BMP14	uc002xck.1	P43026	OTTHUMG00000032341	ENST00000374372.1:c.728G>A	20.37:g.34022485C>T	ENSP00000363492:p.Arg243Gln					GDF5_uc010gfc.1_Missense_Mutation_p.R243Q|uc002xcj.2_Missense_Mutation_p.P299L|GDF5_uc010zvc.1_Missense_Mutation_p.R243Q	p.R243Q	NM_000557	NP_000548	P43026	GDF5_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00663)		2	1047	-	Lung NSC(9;0.00642)|all_lung(11;0.0094)		243					E1P5Q2|Q96SB1	Missense_Mutation	SNP	ENST00000374372.1	37	c.728G>A	CCDS13254.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.9|28.9	4.961941|4.961941	0.92791|0.92791	.|.	.|.	ENSG00000204183|ENSG00000125965	ENST00000374375|ENST00000374369;ENST00000374372	.|T;T	.|0.67865	.|-0.29;-0.29	4.66|4.66	4.66|4.66	0.58398|0.58398	.|Transforming growth factor-beta, N-terminal (1);	0.073633|0.073633	0.49305|0.49305	D|D	0.000160|0.000160	T|T	0.81819|0.81819	0.4903|0.4903	M|M	0.74647|0.74647	2.275|2.275	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.998;1.0	.|D;D	.|0.83275	.|0.937;0.996	D|D	0.84395|0.84395	0.0557|0.0557	7|10	0.87932|0.72032	D|D	0|0.01	.|.	17.7223|17.7223	0.88355|0.88355	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|243;243	.|F1T0J1;P43026	.|.;GDF5_HUMAN	C|Q	177|243	.|ENSP00000363489:R243Q;ENSP00000363492:R243Q	ENSP00000363495:R177C|ENSP00000363489:R243Q	R|R	+|-	1|2	0|0	GDF5OS|GDF5	33485899|33485899	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.856000|0.856000	0.48823|0.48823	5.375000|5.375000	0.66173|0.66173	2.401000|2.401000	0.81631|0.81631	0.561000|0.561000	0.74099|0.74099	CGC|CGG		0.687	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078875.2				31	107	0	0	0	0.008361	0	31	107		
MYBL2	4605	broad.mit.edu	37	20	42320809	42320810	+	Missense_Mutation	DNP	TG	TG	CC			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr20:42320809_42320810TG>CC	ENST00000217026.4	+	6	640_641	c.513_514TG>CC	c.(511-516)gcTGtg>gcCCtg	p.V172L	MYBL2_ENST00000396863.4_Missense_Mutation_p.V148L	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	172	HTH myb-type 3. {ECO:0000255|PROSITE- ProRule:PRU00625}.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CAGACAATGCTGTGAAGAATCA	0.559																																						uc002xlb.1		NaN																	0				lung(3)|kidney(2)	5						c.(511-516)GCTGTG>GCCCTG		MYB-related protein B																																				SO:0001583	missense	4605					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:42320809_42320810TG>CC		CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	Exception_encountered	20.37:g.42320809_42320810delinsCC	ENSP00000217026:p.Val172Leu					MYBL2_uc010zwj.1_Missense_Mutation_p.V148L|MYBL2_uc002xla.1_Missense_Mutation_p.V172L	p.V172L	NM_002466	NP_002457	P10244	MYBB_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		6	728_729	+		Myeloproliferative disorder(115;0.00452)	172			HTH myb-type 3.|H-T-H motif (By similarity).		B2RBS5|B7Z8D9|F8W6N6|Q53F07	Missense_Mutation	DNP	ENST00000217026.4	37	c.513_514TG>CC	CCDS13322.1																																																																																				0.559	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1		NM_002466		37	52	0	0	0	0.004672	0	37	52		
WISP2	8839	broad.mit.edu	37	20	43355781	43355781	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr20:43355781G>A	ENST00000372868.2	+	5	929	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K	WISP2_ENST00000190983.4_Missense_Mutation_p.E196K|RP11-445H22.4_ENST00000427303.1_RNA|WISP2_ENST00000372865.4_Silent_p.Q113Q|WISP2_ENST00000471629.1_3'UTR|RP11-445H22.4_ENST00000445420.1_RNA|RP11-445H22.4_ENST00000427598.1_RNA			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	196	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				skin(1)	1		Myeloproliferative disorder(115;0.0122)				CCCCTGCCCAGAATGGAGCAC	0.647																																						uc002xmn.2		NaN																	0				skin(1)	1						c.(586-588)GAA>AAA		WNT1 inducible signaling pathway protein 2							71.0	66.0	67.0					20																	43355781		2203	4297	6500	SO:0001583	missense	8839				cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding	g.chr20:43355781G>A	AF100780	CCDS13336.1	20q13.12	2007-05-14			ENSG00000064205	ENSG00000064205			12770	protein-coding gene	gene with protein product		603399				9843955	Standard	NM_003881		Approved	CT58, CTGF-L, CCN5	uc002xmp.3	O76076	OTTHUMG00000033071	ENST00000372868.2:c.586G>A	20.37:g.43355781G>A	ENSP00000361959:p.Glu196Lys					uc002xml.1_Intron|uc002xmm.1_Intron|WISP2_uc002xmp.2_Missense_Mutation_p.E196K|WISP2_uc002xmq.2_Silent_p.Q113Q	p.E196K	NM_003881	NP_003872	O76076	WISP2_HUMAN			5	939	+		Myeloproliferative disorder(115;0.0122)	196			TSP type-1.		B2R9N4|E1P612|Q6PEG3	Missense_Mutation	SNP	ENST00000372868.2	37	c.586G>A	CCDS13336.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.274945	0.23307	.	.	ENSG00000064205	ENST00000372868;ENST00000190983	T;T	0.61742	0.08;0.08	4.05	3.08	0.35506	.	0.478026	0.21785	N	0.069160	T	0.48447	0.1500	M	0.63843	1.955	0.09310	N	1	B	0.19445	0.036	B	0.19946	0.027	T	0.33266	-0.9875	10	0.12766	T	0.61	-9.8063	8.3276	0.32167	0.0909:0.1568:0.7524:0.0	.	196	O76076	WISP2_HUMAN	K	196	ENSP00000361959:E196K;ENSP00000190983:E196K	ENSP00000190983:E196K	E	+	1	0	WISP2	42789195	0.889000	0.30405	0.769000	0.31535	0.179000	0.23085	4.587000	0.60991	0.884000	0.36064	0.561000	0.74099	GAA		0.647	WISP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127824.1		NM_003881		45	78	0	0	0	0.01441	0	45	78		
COL9A3	1299	broad.mit.edu	37	20	61467685	61467685	+	Splice_Site	SNP	G	G	C	rs541379689		TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr20:61467685G>C	ENST00000343916.3	+	28	1551	c.1548G>C	c.(1546-1548)ccG>ccC	p.P516P	COL9A3_ENST00000462700.1_3'UTR	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	516	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					CGGGAGTTCCGGTACGTCGCT	0.632																																						uc002ydm.2		NaN																	0					0						c.(1546-1548)CCG>CCC		alpha 3 type IX collagen precursor							36.0	44.0	41.0					20																	61467685		2202	4298	6500	SO:0001630	splice_region_variant	1299				axon guidance	collagen type IX		g.chr20:61467685G>C	AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2219	protein-coding gene	gene with protein product	"""collagen type IX proteoglycan"""	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	ENST00000343916.3:c.1548+1G>C	20.37:g.61467685G>C						COL9A3_uc002ydn.2_5'Flank	p.P516P	NM_001853	NP_001844	Q14050	CO9A3_HUMAN			28	1551	+	Breast(26;5.68e-08)		516			Triple-helical region 3 (COL3).		Q13681|Q9H4G9|Q9UPE2	Silent	SNP	ENST00000343916.3	37	c.1548G>C	CCDS13505.1																																																																																				0.632	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080071.2		NM_001853	Silent	27	43	0	0	0	0.008361	0	27	43		
SLC17A9	63910	broad.mit.edu	37	20	61597892	61597892	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr20:61597892C>T	ENST00000370351.4	+	11	1208	c.1077C>T	c.(1075-1077)aaC>aaT	p.N359N	SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370349.3_Silent_p.N353N	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	359					exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						TTTCTGTTAACATCCAGGACT	0.637																																						uc002yea.3		NaN																	0				ovary(1)|skin(1)	2						c.(1075-1077)AAC>AAT		vesicular nucleotide transporter SLC17A9							118.0	122.0	121.0					20																	61597892		1949	4130	6079	SO:0001819	synonymous_variant	63910				exocytosis|transmembrane transport	integral to membrane	transporter activity	g.chr20:61597892C>T	AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194		"""Solute carriers"""	16192	protein-coding gene	gene with protein product		612107	"""chromosome 20 open reading frame 59"", ""solute carrier family 17, member 9"""	C20orf59		18375752	Standard	NM_022082		Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370351.4:c.1077C>T	20.37:g.61597892C>T						SLC17A9_uc002ydz.3_Silent_p.N353N|SLC17A9_uc011aap.1_Silent_p.N379N	p.N359N	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN			11	1261	+			359					B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Silent	SNP	ENST00000370351.4	37	c.1077C>T	CCDS42901.1																																																																																				0.637	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080100.1		NM_022082		16	166	0	0	0	0.004007	0	16	166		
ITSN1	6453	broad.mit.edu	37	21	35147174	35147174	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr21:35147174G>C	ENST00000381318.3	+	13	1735	c.1447G>C	c.(1447-1449)Gaa>Caa	p.E483Q	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399352.1_Missense_Mutation_p.E483Q|ITSN1_ENST00000399353.1_Missense_Mutation_p.E446Q|ITSN1_ENST00000399338.4_Missense_Mutation_p.E483Q|ITSN1_ENST00000437442.2_Missense_Mutation_p.E483Q|ITSN1_ENST00000399355.2_Missense_Mutation_p.E483Q|ITSN1_ENST00000399367.3_Missense_Mutation_p.E483Q|ITSN1_ENST00000381285.4_Missense_Mutation_p.E483Q|ITSN1_ENST00000399326.3_Missense_Mutation_p.E483Q|ITSN1_ENST00000399349.1_Missense_Mutation_p.E483Q|ITSN1_ENST00000381291.4_Missense_Mutation_p.E483Q|ITSN1_ENST00000379960.5_Missense_Mutation_p.E483Q	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	483	KLERQ.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						ATTTGAATTAGAAGCTCTAGT	0.299																																						uc002yta.1		NaN																	0				ovary(3)|skin(1)	4						c.(1447-1449)GAA>CAA		intersectin 1 isoform ITSN-l							57.0	64.0	61.0					21																	35147174		2203	4300	6503	SO:0001583	missense	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35147174G>C	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.1447G>C	21.37:g.35147174G>C	ENSP00000370719:p.Glu483Gln					DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Missense_Mutation_p.E483Q|ITSN1_uc010gmg.2_Missense_Mutation_p.E446Q|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Missense_Mutation_p.E483Q|ITSN1_uc010gmi.2_Missense_Mutation_p.E446Q|ITSN1_uc010gmj.2_Missense_Mutation_p.E367Q|ITSN1_uc002ysy.2_Missense_Mutation_p.E483Q|ITSN1_uc002ysx.2_Missense_Mutation_p.E446Q|ITSN1_uc002ytb.1_Missense_Mutation_p.E483Q|ITSN1_uc002ytc.1_Missense_Mutation_p.E483Q|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Missense_Mutation_p.E446Q|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Missense_Mutation_p.E483Q|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Missense_Mutation_p.E417Q	p.E483Q	NM_003024	NP_003015	Q15811	ITSN1_HUMAN			13	1715	+			483			Potential.|KLERQ.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	ENST00000381318.3	37	c.1447G>C	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.871229	0.72065	.	.	ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000399338;ENST00000437442;ENST00000399326;ENST00000379960	T;T;T;T;T;T;T;T;T;T;T;T	0.46063	1.53;0.88;0.88;0.88;1.53;1.53;0.88;1.53;1.53;1.53;1.53;1.0	4.94	4.05	0.47172	.	0.000000	0.85682	D	0.000000	T	0.60508	0.2274	M	0.62723	1.935	0.58432	D	0.999998	D;D;P;D;D;P;D;D;D;D	0.89917	1.0;1.0;0.734;0.997;1.0;0.952;0.998;0.998;1.0;1.0	D;D;B;D;D;P;D;D;D;D	0.87578	0.997;0.997;0.254;0.993;0.998;0.449;0.993;0.993;0.998;0.997	T	0.63673	-0.6584	10	0.72032	D	0.01	.	13.2226	0.59896	0.0771:0.0:0.9228:0.0	.	446;446;446;483;483;483;483;483;483;446	A8D7D0;A7XZY7;A8CTY7;A8CTY3;F8W7U0;E7ERJ1;A8CTX8;Q15811;Q15811-3;E7ERJ0	.;.;.;.;.;.;.;ITSN1_HUMAN;.;.	Q	446;483;483;483;483;483;483;483;483;483;483;483;483;483	ENSP00000382290:E446Q;ENSP00000370719:E483Q;ENSP00000370691:E483Q;ENSP00000370685:E483Q;ENSP00000382301:E483Q;ENSP00000382289:E483Q;ENSP00000382292:E483Q;ENSP00000382286:E483Q;ENSP00000382275:E483Q;ENSP00000387377:E483Q;ENSP00000382265:E483Q;ENSP00000369294:E483Q	ENSP00000369294:E483Q	E	+	1	0	ITSN1	34069044	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.635000	0.98437	1.077000	0.40990	0.655000	0.94253	GAA		0.299	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4		NM_003024		10	40	0	0	0	0.001855	0	10	40		
DOPEY2	9980	broad.mit.edu	37	21	37665692	37665692	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr21:37665692C>T	ENST00000399151.3	+	37	6805	c.6720C>T	c.(6718-6720)atC>atT	p.I2240I		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	2240					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTTCCAGCATCAGGCAGTTGA	0.458																																						uc002yvg.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(6718-6720)ATC>ATT		pad-1-like							88.0	82.0	84.0					21																	37665692		2203	4300	6503	SO:0001819	synonymous_variant	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37665692C>T	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.6720C>T	21.37:g.37665692C>T						DOPEY2_uc011aeb.1_Silent_p.I2189I	p.I2240I	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN			37	6799	+			2240					D3DSG5|Q6PJQ7|Q9UEZ3	Silent	SNP	ENST00000399151.3	37	c.6720C>T	CCDS13643.1																																																																																				0.458	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1		NM_005128		27	29	0	0	0	0.003954	0	27	29		
DOPEY2	9980	broad.mit.edu	37	21	37665713	37665713	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr21:37665713C>T	ENST00000399151.3	+	37	6826	c.6741C>T	c.(6739-6741)ttC>ttT	p.F2247F		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	2247					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TGCCATTCTTCATGACTCTAA	0.478																																						uc002yvg.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(6739-6741)TTC>TTT		pad-1-like							93.0	85.0	88.0					21																	37665713		2203	4300	6503	SO:0001819	synonymous_variant	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37665713C>T	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.6741C>T	21.37:g.37665713C>T						DOPEY2_uc011aeb.1_Silent_p.F2196F	p.F2247F	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN			37	6820	+			2247					D3DSG5|Q6PJQ7|Q9UEZ3	Silent	SNP	ENST00000399151.3	37	c.6741C>T	CCDS13643.1																																																																																				0.478	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1		NM_005128		31	33	0	0	0	0.008361	0	31	33		
BRWD1	54014	broad.mit.edu	37	21	40636520	40636520	+	Missense_Mutation	SNP	G	G	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr21:40636520G>T	ENST00000333229.2	-	17	2078	c.1751C>A	c.(1750-1752)cCt>cAt	p.P584H	BRWD1_ENST00000342449.3_Missense_Mutation_p.P584H|BRWD1_ENST00000380800.3_Missense_Mutation_p.P584H	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	584					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CATAAGATGAGGAGCCTGCTG	0.393																																					Melanoma(170;988 1986 4794 16843 39731)	uc002yxk.1		NaN																	0				skin(3)|ovary(1)	4						c.(1750-1752)CCT>CAT		bromodomain and WD repeat domain containing 1							82.0	80.0	81.0					21																	40636520		2203	4300	6503	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40636520G>T	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.1751C>A	21.37:g.40636520G>T	ENSP00000330753:p.Pro584His					BRWD1_uc010goc.1_5'UTR|BRWD1_uc002yxl.2_Missense_Mutation_p.P584H|BRWD1_uc010goe.1_Intron|BRWD1_uc010gof.1_Missense_Mutation_p.P37H|BRWD1_uc010gog.1_RNA|BRWD1_uc010goh.1_RNA|BRWD1_uc010goi.1_Missense_Mutation_p.P304H	p.P584H	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN			17	1890	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	584					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.1751C>A	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530850	0.85706	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.75821	-0.97;-0.89;-0.82	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000002	D	0.89901	0.6849	M	0.92077	3.27	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;1.0;0.998	D	0.92111	0.5696	10	0.87932	D	0	-9.6893	19.0855	0.93201	0.0:0.0:1.0:0.0	.	295;295;584;584	Q5R2U6;Q5R2U8;Q9NSI6-2;Q9NSI6	.;.;.;BRWD1_HUMAN	H	584	ENSP00000330753:P584H;ENSP00000344333:P584H;ENSP00000370178:P584H	ENSP00000330753:P584H	P	-	2	0	BRWD1	39558390	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.357000	0.97099	2.526000	0.85167	0.655000	0.94253	CCT		0.393	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3		NM_033656		17	17	1	0	4.7546e-09	0.004007	5.09317e-09	17	17		
LCA5L	150082	broad.mit.edu	37	21	40783687	40783687	+	Silent	SNP	A	A	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr21:40783687A>G	ENST00000358268.2	-	7	1545	c.1017T>C	c.(1015-1017)caT>caC	p.H339H	LCA5L_ENST00000380671.2_Silent_p.H339H|LCA5L_ENST00000495240.1_5'Flank|LCA5L_ENST00000288350.3_Silent_p.H339H|WRB_ENST00000541890.1_Intron			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	339										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				TAAGTATTCGATGACTATAGA	0.294																																						uc002yxu.2		NaN																	0					0						c.(1015-1017)CAT>CAC		Leber congenital amaurosis 5-like							70.0	71.0	71.0					21																	40783687		2201	4291	6492	SO:0001819	synonymous_variant	150082							g.chr21:40783687A>G	AF121781	CCDS13665.1	21q22.2	2007-12-18	2007-12-18	2007-12-18	ENSG00000157578	ENSG00000157578			1255	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 13"""	C21orf13			Standard	XM_005260926		Approved	MGC33295	uc002yxu.3	O95447	OTTHUMG00000066280	ENST00000358268.2:c.1017T>C	21.37:g.40783687A>G						LCA5L_uc002yxv.2_Silent_p.H339H	p.H339H	NM_152505	NP_689718	O95447	LCA5L_HUMAN			7	1330	-		Prostate(19;1.2e-06)	339					D3DSI0|Q3ZCT0	Silent	SNP	ENST00000358268.2	37	c.1017T>C	CCDS13665.1																																																																																				0.294	LCA5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141807.2		NM_152505		14	30	0	0	0	0.004007	0	14	30		
DNMT3L	29947	broad.mit.edu	37	21	45666349	45666349	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr21:45666349C>T	ENST00000418993.1	-	12	1575	c.1092G>A	c.(1090-1092)gtG>gtA	p.V364V	DNMT3L_ENST00000270172.3_Silent_p.V365V	NM_175867.2	NP_787063.1	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	364					chorionic trophoblast cell differentiation (GO:0060718)|DNA methylation (GO:0006306)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|placenta development (GO:0001890)|positive regulation of catalytic activity (GO:0043085)|regulation of gene expression by genetic imprinting (GO:0006349)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		AGCAGTTCTTCACCAGCTTGG	0.473																																						uc002zeg.1		NaN																	0				skin(2)	2						c.(1090-1092)GTG>GTA		cytosine-5-methyltransferase 3-like protein							56.0	59.0	58.0					21																	45666349		2203	4300	6503	SO:0001819	synonymous_variant	29947				DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding	g.chr21:45666349C>T	AF194032	CCDS13705.1	21q22.3	2008-07-31			ENSG00000142182	ENSG00000142182			2980	protein-coding gene	gene with protein product	"""cytosine-5-methyltransferase 3-like protein"", ""human cytosine-5-methyltransferase 3-like protein"""	606588				10857753	Standard	NM_013369		Approved	MGC1090	uc002zeh.2	Q9UJW3	OTTHUMG00000086914	ENST00000418993.1:c.1092G>A	21.37:g.45666349C>T						DNMT3L_uc002zeh.1_Silent_p.V365V	p.V364V	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN		Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)	12	1576	-			364					E9PB42|Q9BUJ4	Silent	SNP	ENST00000418993.1	37	c.1092G>A	CCDS46650.1																																																																																				0.473	DNMT3L-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000195820.1		NM_013369		18	47	0	0	0	0.006122	0	18	47		
CACNA1I	8911	broad.mit.edu	37	22	40059831	40059831	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr22:40059831C>G	ENST00000402142.3	+	19	3582	c.3582C>G	c.(3580-3582)atC>atG	p.I1194M	CACNA1I_ENST00000400164.3_Missense_Mutation_p.I1159M|CACNA1I_ENST00000336649.4_Missense_Mutation_p.I1200M|CACNA1I_ENST00000407673.1_Missense_Mutation_p.I1159M|CACNA1I_ENST00000401624.1_Missense_Mutation_p.I1194M|CACNA1I_ENST00000404898.1_Missense_Mutation_p.I1159M	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1194					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	GGCCTCAGATCGAGGCCGGCA	0.622																																						uc003ayc.2		NaN																	0				breast(1)|central_nervous_system(1)	2						c.(3580-3582)ATC>ATG		calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						97.0	107.0	104.0					22																	40059831		2037	4182	6219	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40059831C>G	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.3582C>G	22.37:g.40059831C>G	ENSP00000385019:p.Ile1194Met					CACNA1I_uc003ayd.2_Missense_Mutation_p.I1159M|CACNA1I_uc003aye.2_Missense_Mutation_p.I1109M|CACNA1I_uc003ayf.2_Missense_Mutation_p.I1074M	p.I1194M	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN			19	3582	+	Melanoma(58;0.0749)		1194			III.|Extracellular (Potential).		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.3582C>G	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.507695	0.27036	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.97505	-4.41;-4.41;-4.41;-4.41;-4.41;-4.41	5.4	-10.8	0.00216	.	0.098514	0.64402	D	0.000004	D	0.97848	0.9293	M	0.89904	3.07	0.26822	N	0.968775	D;D;D;D	0.89917	1.0;1.0;1.0;0.998	D;D;D;D	0.91635	0.999;0.999;0.999;0.955	D	0.98027	1.0374	10	0.87932	D	0	.	14.4623	0.67459	0.1964:0.0843:0.0:0.7192	.	1159;1194;1159;1194	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	M	1194;1159;1194;1159;1200;1159	ENSP00000385019:I1194M;ENSP00000384093:I1159M;ENSP00000383887:I1194M;ENSP00000385680:I1159M;ENSP00000337829:I1200M;ENSP00000383028:I1159M	ENSP00000337829:I1200M	I	+	3	3	CACNA1I	38389777	0.000000	0.05858	0.090000	0.20809	0.283000	0.27025	-2.883000	0.00714	-2.970000	0.00286	-1.268000	0.01426	ATC		0.622	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1		NM_001003406		30	101	0	0	0	0.003271	0	30	101		
ENTHD1	150350	broad.mit.edu	37	22	40283688	40283688	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr22:40283688C>G	ENST00000325157.6	-	2	315	c.65G>C	c.(64-66)aGg>aCg	p.R22T		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	22	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.									breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					AGTTGCTTCCCTGACTTTTAT	0.388																																						uc003ayg.2		NaN																	0				ovary(2)|skin(1)	3						c.(64-66)AGG>ACG		ENTH domain containing 1							92.0	91.0	91.0					22																	40283688		2203	4300	6503	SO:0001583	missense	150350							g.chr22:40283688C>G	AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.65G>C	22.37:g.40283688C>G	ENSP00000317431:p.Arg22Thr						p.R22T	NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN			2	316	-	Melanoma(58;0.0749)		22			ENTH.		B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	ENST00000325157.6	37	c.65G>C	CCDS13998.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.937541	0.92458	.	.	ENSG00000176177	ENST00000325157	T	0.50277	0.75	5.72	5.72	0.89469	Epsin domain, N-terminal (1);ENTH/VHS (2);Epsin-like, N-terminal (2);	0.074885	0.56097	D	0.000036	T	0.81941	0.4929	H	0.98218	4.175	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.88308	0.2954	10	0.87932	D	0	-19.163	19.88	0.96892	0.0:1.0:0.0:0.0	.	22	Q8IYW4	ENTD1_HUMAN	T	22	ENSP00000317431:R22T	ENSP00000317431:R22T	R	-	2	0	ENTHD1	38613634	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.703000	0.92315	0.655000	0.94253	AGG		0.388	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321302.1		NM_152512		15	48	0	0	0	0.003163	0	15	48		
RANGAP1	5905	broad.mit.edu	37	22	41652232	41652232	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr22:41652232C>T	ENST00000455915.2	-	8	2420	c.951G>A	c.(949-951)atG>atA	p.M317I	RANGAP1_ENST00000356244.3_Missense_Mutation_p.M317I|RANGAP1_ENST00000407260.4_Missense_Mutation_p.M262I|RANGAP1_ENST00000405486.1_Missense_Mutation_p.M317I			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	317					mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTTTGTCTGCCATGGCCTCAG	0.572																																						uc003azs.2		NaN																	0					0						c.(949-951)ATG>ATA		Ran GTPase activating protein 1							109.0	98.0	102.0					22																	41652232		2203	4300	6503	SO:0001583	missense	5905				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	g.chr22:41652232C>T	X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"""segregation distorter homolog (Drosophila)"""	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.951G>A	22.37:g.41652232C>T	ENSP00000401470:p.Met317Ile					RANGAP1_uc003azt.2_Missense_Mutation_p.M317I|RANGAP1_uc003azu.2_Missense_Mutation_p.M317I|RANGAP1_uc011aoz.1_Missense_Mutation_p.M262I	p.M317I	NM_002883	NP_002874	P46060	RAGP1_HUMAN			8	2421	-			317			LRR 5.		Q96JJ2	Missense_Mutation	SNP	ENST00000455915.2	37	c.951G>A	CCDS14012.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.25|10.25	1.298373|1.298373	0.23650|0.23650	.|.	.|.	ENSG00000100401|ENSG00000100401	ENST00000446258|ENST00000405486;ENST00000356244;ENST00000405383;ENST00000455915;ENST00000407260	.|T;T;T;T	.|0.49720	.|0.77;0.77;0.77;0.84	5.12|5.12	2.86|2.86	0.33363|0.33363	.|.	.|0.328253	.|0.30911	.|N	.|0.008621	T|T	0.22820|0.22820	0.0551|0.0551	N|N	0.05280|0.05280	-0.08|-0.08	0.09310|0.09310	N|N	0.999997|0.999997	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.04013	.|0.001;0.0	T|T	0.14839|0.14839	-1.0458|-1.0458	5|10	.|0.21540	.|T	.|0.41	-10.7519|-10.7519	8.9758|8.9758	0.35935|0.35935	0.3214:0.4655:0.2131:0.0|0.3214:0.4655:0.2131:0.0	.|.	.|262;317	.|F8W7I9;P46060	.|.;RAGP1_HUMAN	S|I	213|317;317;317;317;262	.|ENSP00000385866:M317I;ENSP00000348577:M317I;ENSP00000401470:M317I;ENSP00000385354:M262I	.|ENSP00000348577:M317I	G|M	-|-	1|3	0|0	RANGAP1|RANGAP1	39982178|39982178	0.016000|0.016000	0.18221|0.18221	0.785000|0.785000	0.31869|0.31869	0.561000|0.561000	0.35649|0.35649	0.261000|0.261000	0.18442|0.18442	1.132000|1.132000	0.42129|0.42129	0.462000|0.462000	0.41574|0.41574	GGC|ATG		0.572	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320606.1		NM_002883		44	57	0	0	0	0.01441	0	44	57		
SYN2	6854	broad.mit.edu	37	3	12211351	12211351	+	RNA	SNP	T	T	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr3:12211351T>C	ENST00000432424.2	+	0	1425							Q92777	SYN2_HUMAN	synapsin II						neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AACCAGCTGCTGTCCAGGACT	0.542																																						uc003bwm.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1252-1254)CTG>CCG		synapsin II isoform IIa							67.0	67.0	67.0					3																	12211351		2037	4219	6256			6854				neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity	g.chr3:12211351T>C		CCDS74900.1, CCDS74901.1	3p25.2	2013-09-20			ENSG00000157152	ENSG00000157152			11495	protein-coding gene	gene with protein product		600755				8530057	Standard	XM_006713311		Approved	SYNII, SYNIIa, SYNIIb	uc003bwm.3	Q92777	OTTHUMG00000155335		3.37:g.12211351T>C						SYN2_uc003bwl.1_Missense_Mutation_p.L418P|SYN2_uc003bwn.2_Missense_Mutation_p.L92P	p.L418P	NM_133625	NP_598328	Q92777	SYN2_HUMAN			14	1417	+			418					A8MY98	Missense_Mutation	SNP	ENST00000432424.2	37	c.1253T>C		.	.	.	.	.	.	.	.	.	.	T	17.05	3.289177	0.59976	.	.	ENSG00000157152	ENST00000540660	.	.	.	5.32	5.32	0.75619	.	0.168415	0.41500	D	0.000861	T	0.47002	0.1422	L	0.32530	0.975	0.24601	N	0.993776	D;D	0.76494	0.999;0.998	P;P	0.58620	0.803;0.842	T	0.42189	-0.9466	9	0.87932	D	0	-10.0542	11.168	0.48554	0.0:0.0:0.1539:0.8461	.	418;418	Q92777;Q92777-2	SYN2_HUMAN;.	P	350	.	ENSP00000442512:L350P	L	+	2	0	SYN2	12186351	0.987000	0.35691	1.000000	0.80357	0.974000	0.67602	1.837000	0.39201	2.238000	0.73509	0.528000	0.53228	CTG		0.542	SYN2-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000339528.3		NM_133625		4	15	0	0	0	0.009096	0	4	15		
TTC21A	199223	broad.mit.edu	37	3	39180207	39180207	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr3:39180207C>T	ENST00000431162.2	+	29	4025	c.3891C>T	c.(3889-3891)ctC>ctT	p.L1297L	TTC21A_ENST00000301819.6_Silent_p.L1298L|TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000440121.1_Silent_p.L1249L			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	1297										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TCCAGGTCCTCAGGGAGCACC	0.587																																						uc003cjc.2		NaN																	0				ovary(1)	1						c.(3889-3891)CTC>CTT		tetratricopeptide repeat domain 21A isoform 2							96.0	95.0	95.0					3																	39180207		1949	4132	6081	SO:0001819	synonymous_variant	199223						binding	g.chr3:39180207C>T	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.3891C>T	3.37:g.39180207C>T						TTC21A_uc003cje.2_Silent_p.L1298L|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Silent_p.L1249L|TTC21A_uc003cjf.2_Silent_p.L418L	p.L1297L	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	29	4068	+			1297			TPR 19.		A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Silent	SNP	ENST00000431162.2	37	c.3891C>T	CCDS46800.1																																																																																				0.587	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1		NM_145755		45	25	0	0	0	0.01441	0	45	25		
ZNF589	51385	broad.mit.edu	37	3	48310197	48310197	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr3:48310197G>A	ENST00000354698.3	+	4	1088	c.1016G>A	c.(1015-1017)cGa>cAa	p.R339Q	ZNF589_ENST00000427617.2_Intron|ZNF589_ENST00000440261.2_Intron|ZNF589_ENST00000412564.1_Intron	NM_016089.2	NP_057173.2	Q86UQ0	ZN589_HUMAN	zinc finger protein 589	339					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GTGTGTGGGCGAGGCTTTCGT	0.502																																					Colon(9;319 328 25374 27611 50948)	uc003csl.3		NaN																	0				ovary(1)	1						c.(1015-1017)CGA>CAA		zinc finger protein 589							87.0	94.0	92.0					3																	48310197		2149	4280	6429	SO:0001583	missense	51385				regulation of transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:48310197G>A	AF114816	CCDS43085.1	3p21	2013-01-08			ENSG00000164048	ENSG00000164048		"""Zinc fingers, C2H2-type"", ""-"""	16747	protein-coding gene	gene with protein product						10029171	Standard	NM_016089		Approved	SZF1	uc003csl.4	Q86UQ0	OTTHUMG00000156833	ENST00000354698.3:c.1016G>A	3.37:g.48310197G>A	ENSP00000346729:p.Arg339Gln					ZNF589_uc010hjt.1_Missense_Mutation_p.R336Q|ZNF589_uc003csn.2_RNA|ZNF589_uc011bbg.1_Intron|ZNF589_uc003csm.2_Intron	p.R339Q	NM_016089	NP_057173	Q86UQ0	ZN589_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	4	1082	+			339			C2H2-type 4.		Q86UC9|Q9BRI6|Q9BRY3|Q9Y611|Q9Y612	Missense_Mutation	SNP	ENST00000354698.3	37	c.1016G>A	CCDS43085.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.905706	0.33628	.	.	ENSG00000164048	ENST00000354698;ENST00000296437	T	0.18960	2.18	1.07	0.179	0.15063	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16727	0.0402	L	0.54965	1.715	0.21553	N	0.999649	P;P	0.42039	0.769;0.467	B;B	0.37780	0.245;0.258	T	0.15235	-1.0444	9	0.56958	D	0.05	.	3.817	0.08819	0.4683:0.0:0.5317:0.0	.	336;339	Q86UQ0-2;Q86UQ0	.;ZN589_HUMAN	Q	339;336	ENSP00000346729:R339Q	ENSP00000296437:R336Q	R	+	2	0	ZNF589	48285201	0.000000	0.05858	0.011000	0.14972	0.047000	0.14425	0.564000	0.23563	0.048000	0.15891	-0.671000	0.03813	CGA		0.502	ZNF589-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346124.1		NM_016089		16	84	0	0	0	0.00499	0	16	84		
COL7A1	1294	broad.mit.edu	37	3	48630366	48630366	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr3:48630366C>T	ENST00000328333.8	-	6	795	c.688G>A	c.(688-690)Gac>Aac	p.D230N	COL7A1_ENST00000454817.1_Missense_Mutation_p.D230N	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	230	Nonhelical region (NC1).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GAGGTCGAGTCATCCGCTGGG	0.587																																						uc003ctz.2		NaN																	0				ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11						c.(688-690)GAC>AAC		alpha 1 type VII collagen precursor							34.0	33.0	33.0					3																	48630366		2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48630366C>T	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.688G>A	3.37:g.48630366C>T	ENSP00000332371:p.Asp230Asn						p.D230N	NM_000094	NP_000085	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	6	689	-			230			Nonhelical region (NC1).		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.688G>A	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	5.529	0.282579	0.10458	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.85702	-2.01;-2.02	4.31	4.31	0.51392	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.371038	0.19721	N	0.107591	T	0.76062	0.3935	L	0.29908	0.895	0.09310	N	1	B	0.27498	0.18	B	0.18871	0.023	T	0.67248	-0.5718	10	0.41790	T	0.15	.	12.6688	0.56857	0.0:1.0:0.0:0.0	.	230	Q02388	CO7A1_HUMAN	N	230	ENSP00000332371:D230N;ENSP00000412569:D230N	ENSP00000332371:D230N	D	-	1	0	COL7A1	48605370	0.005000	0.15991	0.256000	0.24389	0.357000	0.29423	1.708000	0.37899	2.136000	0.66102	0.462000	0.41574	GAC		0.587	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1		NM_000094		8	15	0	0	0	0.00308	0	8	15		
CELSR3	1951	broad.mit.edu	37	3	48689917	48689917	+	Missense_Mutation	SNP	G	G	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr3:48689917G>T	ENST00000164024.4	-	11	5984	c.5704C>A	c.(5704-5706)Ccc>Acc	p.P1902T	CELSR3_ENST00000544264.1_Missense_Mutation_p.P1902T	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1902	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCACTGCCGGGGGGCAGGCCT	0.637																																						uc003cul.2		NaN																	0				ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.(5704-5706)CCC>ACC		cadherin EGF LAG seven-pass G-type receptor 3							55.0	55.0	55.0					3																	48689917		2203	4300	6503	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48689917G>T	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.5704C>A	3.37:g.48689917G>T	ENSP00000164024:p.Pro1902Thr					CELSR3_uc003cuf.1_Missense_Mutation_p.P1972T|CELSR3_uc010hkg.2_5'Flank	p.P1902T	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	11	5985	-			1902			Extracellular (Potential).|Laminin G-like 2.		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.5704C>A	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	4.370	0.068305	0.08436	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.77620	-1.11;-1.11	4.51	1.2	0.21068	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.57902	0.2085	N	0.12182	0.205	0.09310	N	1	B;B	0.16396	0.005;0.017	B;B	0.24848	0.056;0.042	T	0.47195	-0.9136	9	0.33940	T	0.23	.	5.3409	0.15982	0.2457:0.4887:0.2656:0.0	.	1902;1972	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	T	1902	ENSP00000164024:P1902T;ENSP00000445694:P1902T	ENSP00000164024:P1902T	P	-	1	0	CELSR3	48664921	0.108000	0.22018	0.183000	0.23137	0.423000	0.31445	1.133000	0.31430	0.513000	0.28278	-0.345000	0.07892	CCC		0.637	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1		NM_001407		11	40	1	0	6.42651e-13	0.010729	6.99237e-13	11	40		
QARS	5859	broad.mit.edu	37	3	49141772	49141772	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr3:49141772C>T	ENST00000306125.6	-	2	587	c.250G>A	c.(250-252)Gag>Aag	p.E84K	QARS_ENST00000420147.2_Missense_Mutation_p.E102K|QARS_ENST00000470225.1_5'Flank|QARS_ENST00000414533.1_Intron			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	84					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	AGCTGGGGCTCAGTGTGGATC	0.562																																						uc003cvx.2		NaN																	0				ovary(1)	1						c.(250-252)GAG>AAG		glutaminyl-tRNA synthetase	L-Glutamine(DB00130)						132.0	128.0	130.0					3																	49141772		2203	4300	6503	SO:0001583	missense	5859				glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding	g.chr3:49141772C>T	X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"""Aminoacyl tRNA synthetases / Class I"""	9751	protein-coding gene	gene with protein product	"""glutamine tRNA ligase"""	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.250G>A	3.37:g.49141772C>T	ENSP00000307567:p.Glu84Lys					QARS_uc011bcd.1_5'UTR|QARS_uc003cvy.2_Intron|QARS_uc011bce.1_Intron|QARS_uc011bcf.1_Missense_Mutation_p.E84K	p.E84K	NM_005051	NP_005042	P47897	SYQ_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	2	255	-			84					B4DWJ2	Missense_Mutation	SNP	ENST00000306125.6	37	c.250G>A	CCDS2788.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.900282	0.72754	.	.	ENSG00000172053	ENST00000306125;ENST00000420147;ENST00000452739;ENST00000417025	T	0.22134	1.97	5.65	5.65	0.86999	Glutaminyl-tRNA synthetase, class Ib, non-specific RNA-binding domain, N-terminal (1);	0.214161	0.47852	D	0.000213	T	0.25975	0.0633	L	0.28458	0.855	0.53005	D	0.999963	P;B	0.45634	0.863;0.01	P;B	0.52386	0.697;0.027	T	0.00626	-1.1638	10	0.07175	T	0.84	-16.2034	19.5221	0.95189	0.0:1.0:0.0:0.0	.	102;84	B7Z840;P47897	.;SYQ_HUMAN	K	84;102;84;84	ENSP00000307567:E84K	ENSP00000307567:E84K	E	-	1	0	QARS	49116776	0.936000	0.31750	0.057000	0.19452	0.981000	0.71138	2.901000	0.48695	2.941000	0.99782	0.655000	0.94253	GAG		0.562	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345689.2		NM_005051		56	42	0	0	0	0.01441	0	56	42		
AMT	275	broad.mit.edu	37	3	49459597	49459597	+	Silent	SNP	A	A	T	rs151231828		TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr3:49459597A>T	ENST00000273588.3	-	2	500	c.198T>A	c.(196-198)acT>acA	p.T66T	AMT_ENST00000395338.2_Silent_p.T66T|NICN1_ENST00000422593.1_5'Flank|AMT_ENST00000538581.1_Intron|AMT_ENST00000458307.2_Silent_p.T66T|NICN1-AS1_ENST00000424915.1_RNA|AMT_ENST00000546031.1_Intron|AMT_ENST00000476226.1_5'UTR	NM_000481.3	NP_000472.2	P48728	GCST_HUMAN	aminomethyltransferase	66					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|transaminase activity (GO:0008483)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Tetrahydrofolic acid(DB00116)	GGTGCGAGTCAGTGTGACTGT	0.607																																						uc003cww.2		NaN																	0				ovary(1)	1						c.(196-198)ACT>ACA		aminomethyltransferase isoform 1 precursor	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						117.0	111.0	113.0					3																	49459597		2203	4300	6503	SO:0001819	synonymous_variant	275				glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity	g.chr3:49459597A>T	D13811	CCDS2797.1, CCDS54583.1, CCDS54584.1, CCDS54585.1	3p21.2-p21.1	2014-09-17	2006-05-22		ENSG00000145020	ENSG00000145020	2.1.2.10		473	protein-coding gene	gene with protein product	"""glycine cleavage system protein T"""	238310	"""aminomethyltransferase (glycine cleavage system protein T)"""			1993704, 8188235	Standard	NM_000481		Approved	GCST, NKH	uc003cww.3	P48728	OTTHUMG00000156847	ENST00000273588.3:c.198T>A	3.37:g.49459597A>T						AMT_uc011bcn.1_Silent_p.T18T|AMT_uc003cwx.2_Silent_p.T66T|AMT_uc011bco.1_Silent_p.T66T|AMT_uc003cwy.2_Silent_p.T18T|AMT_uc011bcp.1_Intron|AMT_uc011bcq.1_Intron	p.T66T	NM_000481	NP_000472	P48728	GCST_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	2	327	-			66					A8K3I5|B4DE61|B4DJQ0|E9PBG1|Q96IG6	Silent	SNP	ENST00000273588.3	37	c.198T>A	CCDS2797.1	.	.	.	.	.	.	.	.	.	.	A	2.587	-0.295995	0.05532	.	.	ENSG00000145020	ENST00000427987	.	.	.	4.55	-7.97	0.01139	.	.	.	.	.	.	.	.	.	.	.	0.20196	N	0.999925	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0603	3.4771	0.07589	0.279:0.4334:0.0743:0.2133	.	.	.	.	R	64	.	.	X	-	1	0	AMT	49434601	0.004000	0.15560	0.000000	0.03702	0.099000	0.18886	-0.488000	0.06497	-1.056000	0.03205	-0.313000	0.08912	TGA		0.607	AMT-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346216.2		NM_000481		18	75	0	0	0	0.007413	0	18	75		
PBRM1	55193	broad.mit.edu	37	3	52597459	52597459	+	Missense_Mutation	SNP	A	A	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr3:52597459A>G	ENST00000296302.7	-	24	3927	c.3926T>C	c.(3925-3927)aTc>aCc	p.I1309T	RNU6ATAC16P_ENST00000408591.1_RNA|PBRM1_ENST00000356770.4_Missense_Mutation_p.I1277T|PBRM1_ENST00000409057.1_Missense_Mutation_p.I1309T|PBRM1_ENST00000337303.4_Missense_Mutation_p.I1309T|PBRM1_ENST00000410007.1_Missense_Mutation_p.I1284T|PBRM1_ENST00000409114.3_Missense_Mutation_p.I1324T|PBRM1_ENST00000394830.3_Missense_Mutation_p.I1284T|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000409767.1_Missense_Mutation_p.I1324T			Q86U86	PB1_HUMAN	polybromo 1	1309					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TAGCAACTGGATCTTCTTTTC	0.403			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	uc003des.2		NaN		Rec	yes		3	3p21	55193	Mis|N|F|S|D|O	polybromo 1			E			clear cell renal carcinoma|breast		0				kidney(136)|breast(4)	140						c.(3925-3927)ATC>ACC		polybromo 1 isoform 4							145.0	130.0	135.0					3																	52597459		2203	4300	6503	SO:0001583	missense	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52597459A>G	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3926T>C	3.37:g.52597459A>G	ENSP00000296302:p.Ile1309Thr					PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.I1309T|PBRM1_uc003der.2_Missense_Mutation_p.I1277T|PBRM1_uc003det.2_Missense_Mutation_p.I1324T|PBRM1_uc003deu.2_Missense_Mutation_p.I1324T|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.I1309T|PBRM1_uc010hmk.1_Missense_Mutation_p.I1284T|PBRM1_uc003dey.2_Missense_Mutation_p.I1284T|PBRM1_uc003dez.1_Missense_Mutation_p.I1308T	p.I1309T	NM_181042	NP_060635	Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	24	3938	-			1309					A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37	c.3926T>C		.	.	.	.	.	.	.	.	.	.	A	14.91	2.675180	0.47781	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351	T;T;T;T;T;T;T;T;T	0.35605	1.4;1.3;1.44;1.38;1.4;1.41;1.85;1.37;1.4	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.50034	0.1592	L	0.50333	1.59	0.51767	D	0.999933	P;P;P;D;P;P;P;B	0.61080	0.873;0.571;0.873;0.989;0.873;0.842;0.873;0.341	B;B;B;D;B;B;B;B	0.75020	0.385;0.163;0.385;0.985;0.385;0.115;0.385;0.116	T	0.38478	-0.9659	10	0.10636	T	0.68	-11.9786	14.5126	0.67797	1.0:0.0:0.0:0.0	.	1284;1284;1309;1324;1324;1309;1277;1309	Q86U86-9;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;PB1_HUMAN;.;.	T	1277;1284;1309;1309;1309;1284;1324;1324;1308	ENSP00000349213:I1277T;ENSP00000378307:I1284T;ENSP00000296302:I1309T;ENSP00000338302:I1309T;ENSP00000386593:I1309T;ENSP00000386529:I1284T;ENSP00000386643:I1324T;ENSP00000386601:I1324T;ENSP00000387775:I1308T	ENSP00000296302:I1309T	I	-	2	0	PBRM1	52572499	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.283000	0.95860	2.216000	0.71823	0.459000	0.35465	ATC		0.403	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165		16	60	0	0	0	0.006122	0	16	60		
FLNB	2317	broad.mit.edu	37	3	58111396	58111396	+	Silent	SNP	T	T	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr3:58111396T>C	ENST00000295956.4	+	23	4152	c.3987T>C	c.(3985-3987)tcT>tcC	p.S1329S	FLNB_ENST00000493452.1_Silent_p.S1160S|FLNB_ENST00000490882.1_Silent_p.S1329S|FLNB_ENST00000348383.5_Silent_p.S1329S|FLNB_ENST00000357272.4_Silent_p.S1329S|FLNB_ENST00000358537.3_Silent_p.S1329S|FLNB_ENST00000429972.2_Silent_p.S1329S|FLNB_ENST00000419752.2_Silent_p.S1160S	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1329	Interaction with FBLP1.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GCCAGCCATCTAGGGTGCAAG	0.522																																						uc003djj.2		NaN																	0				breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19						c.(3985-3987)TCT>TCC		filamin B isoform 2							165.0	136.0	146.0					3																	58111396		2203	4300	6503	SO:0001819	synonymous_variant	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58111396T>C	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.3987T>C	3.37:g.58111396T>C						FLNB_uc010hne.2_Silent_p.S1329S|FLNB_uc003djk.2_Silent_p.S1329S|FLNB_uc010hnf.2_Silent_p.S1329S|FLNB_uc003djl.2_Silent_p.S1160S|FLNB_uc003djm.2_Silent_p.S1160S	p.S1329S	NM_001457	NP_001448	O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	23	4152	+			1329			Filamin 12.|Interaction with FBLP1.		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Silent	SNP	ENST00000295956.4	37	c.3987T>C	CCDS2885.1																																																																																				0.522	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1		NM_001457		54	44	0	0	0	0.01441	0	54	44		
DZIP3	9666	broad.mit.edu	37	3	108407451	108407451	+	Silent	SNP	A	A	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr3:108407451A>G	ENST00000361582.3	+	30	3512	c.3282A>G	c.(3280-3282)aaA>aaG	p.K1094K	DZIP3_ENST00000463306.1_Silent_p.K1094K	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	1094					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GTCAAGGAAAATCAGTGTCAA	0.403																																						uc003dxd.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(3280-3282)AAA>AAG		DAZ interacting protein 3, zinc finger							67.0	66.0	67.0					3																	108407451		2203	4300	6503	SO:0001819	synonymous_variant	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108407451A>G	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.3282A>G	3.37:g.108407451A>G						DZIP3_uc003dxf.1_Silent_p.K1094K|DZIP3_uc011bhm.1_Silent_p.K545K	p.K1094K	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN			30	3704	+			1094					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Silent	SNP	ENST00000361582.3	37	c.3282A>G	CCDS2952.1																																																																																				0.403	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1		NM_014648		19	24	0	0	0	0.006122	0	19	24		
SEMA5B	54437	broad.mit.edu	37	3	122631022	122631022	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr3:122631022G>A	ENST00000357599.3	-	19	3279	c.2893C>T	c.(2893-2895)Cca>Tca	p.P965S	SEMA5B_ENST00000451055.2_Missense_Mutation_p.P1019S|SEMA5B_ENST00000195173.4_Missense_Mutation_p.P964S	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	965	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CTCATACCTGGGCAGGCCTGT	0.642																																						uc003efz.1		NaN																	0				ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7						c.(2893-2895)CCA>TCA		semaphorin 5B isoform 1							47.0	41.0	43.0					3																	122631022		2203	4299	6502	SO:0001583	missense	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122631022G>A	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.2893C>T	3.37:g.122631022G>A	ENSP00000350215:p.Pro965Ser					SEMA5B_uc011bju.1_Missense_Mutation_p.P871S|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.P965S|SEMA5B_uc003efy.1_Intron	p.P965S	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	19	3197	-			965			Extracellular (Potential).|TSP type-1 4.		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	c.2893C>T	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.927308	0.52759	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.18502	2.22;2.21;2.22;2.22	4.55	4.55	0.56014	.	0.281369	0.31859	N	0.006953	T	0.24160	0.0585	M	0.62154	1.92	0.24338	N	0.994973	P;B	0.44521	0.837;0.254	P;B	0.45310	0.476;0.217	T	0.10847	-1.0612	10	0.59425	D	0.04	.	12.8067	0.57618	0.0:0.2871:0.7129:0.0	.	871;965	D3YTI7;Q9P283	.;SEM5B_HUMAN	S	965;964;871;1019;965	ENSP00000350215:P965S;ENSP00000195173:P964S;ENSP00000389588:P1019S;ENSP00000377208:P965S	ENSP00000195173:P964S	P	-	1	0	SEMA5B	124113712	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	2.921000	0.48852	2.365000	0.80145	0.511000	0.50034	CCA		0.642	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1		NM_001031702		11	13	0	0	0	0.010729	0	11	13		
PLXNA1	5361	broad.mit.edu	37	3	126707544	126707544	+	Silent	SNP	T	T	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr3:126707544T>G	ENST00000393409.2	+	1	108	c.108T>G	c.(106-108)ggT>ggG	p.G36G	PLXNA1_ENST00000251772.4_Silent_p.G13G	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	36	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)	p.G13G(4)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CAGGCGGGGGTTCACAGCCCC	0.682																																						uc003ejg.2		NaN																	4	Substitution - coding silent(4)		lung(2)|kidney(2)	ovary(1)|pancreas(1)|skin(1)	3						c.(37-39)GGT>GGG		plexin A1							26.0	27.0	27.0					3																	126707544		2203	4300	6503	SO:0001819	synonymous_variant	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126707544T>G	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.108T>G	3.37:g.126707544T>G							p.G13G	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	1	43	+			36			Sema.|Extracellular (Potential).			Silent	SNP	ENST00000393409.2	37	c.39T>G	CCDS33847.2																																																																																				0.682	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1		NM_032242		8	30	0	0	0	0.005443	0	8	30		
ISY1	57461	broad.mit.edu	37	3	128852989	128852989	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr3:128852989C>T	ENST00000393295.3	-	9	908	c.591G>A	c.(589-591)ctG>ctA	p.L197L	ISY1_ENST00000471497.1_Intron|ISY1-RAB43_ENST00000418265.1_Silent_p.L197L|ISY1_ENST00000393292.3_Missense_Mutation_p.G199S|ISY1_ENST00000273541.8_Silent_p.L219L	NM_001199469.1|NM_020701.3	NP_001186398.1|NP_065752.1	Q9ULR0	ISY1_HUMAN	ISY1 splicing factor homolog (S. cerevisiae)	197					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|skin(1)	15						CTCCTCTTGCCAGCCGAGCCT	0.507																																						uc003elo.1		NaN																	0				lung(1)	1						c.(589-591)CTG>CTA		ISY1 splicing factor homolog							100.0	104.0	102.0					3																	128852989		1969	4165	6134	SO:0001819	synonymous_variant	339122				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr3:128852989C>T		CCDS43149.1, CCDS56277.1	3q21.3	2008-11-25			ENSG00000240682	ENSG00000240682			29201	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 33"""	612764				16103217	Standard	NM_020701		Approved	KIAA1160, fSAP33		Q9ULR0	OTTHUMG00000137365	ENST00000393295.3:c.591G>A	3.37:g.128852989C>T						ISY1_uc010hsz.1_Intron|ISY1_uc003elp.1_Silent_p.L197L|ISY1_uc010hta.1_Silent_p.L219L	p.L197L	NM_020701	NP_065752	Q86YS6	RAB43_HUMAN			9	802	-			Error:Variant_position_missing_in_Q86YS6_after_alignment					Q96IL2|Q9BT05	Silent	SNP	ENST00000393295.3	37	c.591G>A	CCDS43149.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.614961	0.66672	.	.	ENSG00000240682	ENST00000393292	.	.	.	5.11	1.2	0.21068	.	.	.	.	.	T	0.30696	0.0773	.	.	.	0.37280	D	0.907806	.	.	.	.	.	.	T	0.11155	-1.0599	5	0.10377	T	0.69	.	3.9551	0.09387	0.165:0.5649:0.0:0.2701	.	.	.	.	S	199	.	ENSP00000376970:G199S	G	-	1	0	ISY1	130335679	0.998000	0.40836	1.000000	0.80357	0.980000	0.70556	0.610000	0.24253	0.344000	0.23847	-0.237000	0.12165	GGC		0.507	ISY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267856.1		NM_020701		11	88	0	0	0	0.001855	0	11	88		
NAALADL2	254827	broad.mit.edu	37	3	175184817	175184817	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr3:175184817G>A	ENST00000454872.1	+	8	1506	c.1378G>A	c.(1378-1380)Gga>Aga	p.G460R	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	460						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CAGTTATAATGGACAAGAATG	0.403																																						uc003fit.2		NaN																	0				pancreas(1)	1						c.(1378-1380)GGA>AGA		N-acetylated alpha-linked acidic dipeptidase 2							218.0	212.0	214.0					3																	175184817		1983	4164	6147	SO:0001583	missense	254827				proteolysis	integral to membrane	peptidase activity	g.chr3:175184817G>A		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.1378G>A	3.37:g.175184817G>A	ENSP00000404705:p.Gly460Arg					NAALADL2_uc003fiu.1_Missense_Mutation_p.G453R|NAALADL2_uc010hwy.1_Missense_Mutation_p.G234R|NAALADL2_uc010hwz.1_Missense_Mutation_p.G54R	p.G460R	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	8	1465	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	460			Extracellular (Potential).		Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	ENST00000454872.1	37	c.1378G>A	CCDS46960.1	.	.	.	.	.	.	.	.	.	.	G	6.683	0.494539	0.12702	.	.	ENSG00000177694	ENST00000454872	D	0.92699	-3.09	5.58	1.62	0.23740	Peptidase M28 (1);	2.765000	0.00976	N	0.003317	D	0.90542	0.7036	M	0.62154	1.92	0.09310	N	1	B	0.13594	0.008	B	0.16289	0.015	T	0.73455	-0.3977	10	0.62326	D	0.03	-2.6746	5.549	0.17079	0.3452:0.1315:0.5232:0.0	.	460	Q58DX5	NADL2_HUMAN	R	460	ENSP00000404705:G460R	ENSP00000404705:G460R	G	+	1	0	NAALADL2	176667511	0.887000	0.30362	0.176000	0.23000	0.097000	0.18754	1.495000	0.35627	0.331000	0.23511	0.585000	0.79938	GGA		0.403	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2		NM_207015		61	142	0	0	0	0.01441	0	61	142		
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|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)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|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)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		899	Substitution - Missense(899)	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1633-1635)GAG>AAG		phosphoinositide-3-kinase, catalytic, alpha							61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936091G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2				7	13	0	0	0	0.001984	0	7	13		
MFN1	55669	broad.mit.edu	37	3	179085314	179085314	+	Missense_Mutation	SNP	T	T	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr3:179085314T>G	ENST00000471841.1	+	8	967	c.841T>G	c.(841-843)Ttc>Gtc	p.F281V	MFN1_ENST00000263969.5_Missense_Mutation_p.F281V|MFN1_ENST00000280653.7_Missense_Mutation_p.F281V	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	281	Dynamin-type G.				mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			GAATCGTATCTTCTTTGTTTC	0.403																																						uc003fjs.2		NaN																	0				ovary(2)|large_intestine(1)	3						c.(841-843)TTC>GTC		mitofusin 1							74.0	72.0	73.0					3																	179085314		2203	4300	6503	SO:0001583	missense	55669				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	g.chr3:179085314T>G	AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.841T>G	3.37:g.179085314T>G	ENSP00000420617:p.Phe281Val					MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Missense_Mutation_p.F309V|MFN1_uc010hxc.2_Missense_Mutation_p.F134V	p.F281V	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		8	967	+	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		281			Cytoplasmic (Potential).		B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Missense_Mutation	SNP	ENST00000471841.1	37	c.841T>G	CCDS3228.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.076425	0.76415	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000263969;ENST00000474903	D;D;D;D	0.97575	-3.64;-3.64;-3.64;-4.44	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.98535	0.9511	M	0.87682	2.9	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.996;0.997;0.997	D	0.99679	1.0998	10	0.72032	D	0.01	-14.039	15.4952	0.75643	0.0:0.0:0.0:1.0	.	281;309;281	Q8IWA4-3;Q4AEJ4;Q8IWA4	.;.;MFN1_HUMAN	V	281;281;281;281;144	ENSP00000420617:F281V;ENSP00000280653:F281V;ENSP00000263969:F281V;ENSP00000419926:F144V	ENSP00000263969:F281V	F	+	1	0	MFN1	180568008	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.649000	0.83500	2.065000	0.61736	0.533000	0.62120	TTC		0.403	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2		NM_017927		30	18	0	0	0	0.008361	0	30	18		
FGF12	2257	broad.mit.edu	37	3	191888334	191888334	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr3:191888334C>A	ENST00000454309.2	-	4	1351	c.526G>T	c.(526-528)Gga>Tga	p.G176*	FGF12_ENST00000450716.1_Nonsense_Mutation_p.G114*|FGF12_ENST00000264730.3_Nonsense_Mutation_p.G114*|FGF12_ENST00000445105.2_Nonsense_Mutation_p.G114*|FGF12_ENST00000430714.1_Nonsense_Mutation_p.G77*	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	176					adult locomotory behavior (GO:0008344)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell-cell signaling (GO:0007267)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|JNK cascade (GO:0007254)|negative regulation of cation channel activity (GO:2001258)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|regulation of membrane depolarization (GO:0003254)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		TTATTGAGTCCCAGAAACCAA	0.413																																						uc003fsx.2		NaN																	0				ovary(1)|skin(1)|lung(1)|pancreas(1)	4						c.(526-528)GGA>TGA		fibroblast growth factor 12 isoform 1							210.0	215.0	213.0					3																	191888334		2203	4300	6503	SO:0001587	stop_gained	2257				cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding	g.chr3:191888334C>A	U66197	CCDS3301.1, CCDS46983.1	3q28	2008-07-18			ENSG00000114279	ENSG00000114279			3668	protein-coding gene	gene with protein product	"""fibroblast growth factor 12B"", ""fibroblast growth factor homologous factor 1"", ""myocyte-activating factor"", ""fibroblast growth factor FGF-12b"""	601513		FGF12B		8790420, 9345906	Standard	NM_021032		Approved	FHF1	uc003fsx.3	P61328	OTTHUMG00000156132	ENST00000454309.2:c.526G>T	3.37:g.191888334C>A	ENSP00000413496:p.Gly176*					FGF12_uc003fsy.2_Nonsense_Mutation_p.G114*	p.G176*	NM_021032	NP_066360	P61328	FGF12_HUMAN	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)	4	1352	-	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	176					B2R6B7|B2R976|O35339|P70376|Q8TBG5|Q92912|Q93001	Nonsense_Mutation	SNP	ENST00000454309.2	37	c.526G>T	CCDS3301.1	.	.	.	.	.	.	.	.	.	.	C	36	5.619844	0.96660	.	.	ENSG00000114279	ENST00000264730;ENST00000392454;ENST00000445105;ENST00000454309;ENST00000440901;ENST00000450716;ENST00000430714;ENST00000448795	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.6475	0.95784	0.0:1.0:0.0:0.0	.	.	.	.	X	114;114;114;176;71;114;77;90	.	ENSP00000264730:G114X	G	-	1	0	FGF12	193371028	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.885000	0.99019	0.655000	0.94253	GGA		0.413	FGF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343160.1		NM_021032		31	137	1	0	1.45844e-13	0.013726	1.60196e-13	31	137		
PIGG	54872	broad.mit.edu	37	4	509942	509942	+	Missense_Mutation	SNP	T	T	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr4:509942T>A	ENST00000453061.2	+	6	1188	c.1082T>A	c.(1081-1083)cTg>cAg	p.L361Q	PIGG_ENST00000509768.1_Missense_Mutation_p.L272Q|PIGG_ENST00000536264.1_Missense_Mutation_p.L239Q|PIGG_ENST00000296306.7_Missense_Mutation_p.L272Q|PIGG_ENST00000383028.4_Missense_Mutation_p.L228Q|PIGG_ENST00000504346.1_Missense_Mutation_p.L272Q|PIGG_ENST00000310340.5_Missense_Mutation_p.L361Q|PIGG_ENST00000503111.1_Missense_Mutation_p.L272Q	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	361					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						CTTAGTAAACTGTTGCAAGAG	0.453																																						uc003gak.3		NaN																	0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(1081-1083)CTG>CAG		phosphatidylinositol glycan anchor biosynthesis,							117.0	116.0	117.0					4																	509942		2203	4300	6503	SO:0001583	missense	54872				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity	g.chr4:509942T>A		CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"""Phosphatidylinositol glycan anchor biosynthesis"""	25985	protein-coding gene	gene with protein product			"""phosphatidylinositol glycan, class G"""			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.1082T>A	4.37:g.509942T>A	ENSP00000415203:p.Leu361Gln					PIGG_uc003gaj.3_Missense_Mutation_p.L361Q|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Missense_Mutation_p.L228Q|PIGG_uc003gal.3_Missense_Mutation_p.L272Q|PIGG_uc003gai.2_RNA|PIGG_uc011buw.1_Missense_Mutation_p.L239Q|PIGG_uc003gam.2_Missense_Mutation_p.L272Q|PIGG_uc003gan.2_Missense_Mutation_p.L272Q	p.L361Q	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN			6	1218	+			361			Lumenal (Potential).		B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Missense_Mutation	SNP	ENST00000453061.2	37	c.1082T>A	CCDS46992.1	.	.	.	.	.	.	.	.	.	.	T	16.95	3.263727	0.59431	.	.	ENSG00000174227	ENST00000296306;ENST00000536264;ENST00000310340;ENST00000453061;ENST00000504346;ENST00000503111;ENST00000383028;ENST00000509768	T;T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.68522	0.3010	M	0.77103	2.36	0.47698	D	0.999497	P;D;D;P;D;P	0.89917	0.608;1.0;1.0;0.937;1.0;0.923	B;D;D;P;D;P	0.97110	0.218;1.0;0.979;0.748;0.979;0.676	T	0.71679	-0.4520	10	0.54805	T	0.06	.	13.4688	0.61271	0.0:0.0:0.0:1.0	.	239;228;272;272;361;361	B4DKC7;Q5H8A4-3;D6RFE8;Q5H8A4-5;Q5H8A4;Q5H8A4-2	.;.;.;.;PIGG_HUMAN;.	Q	272;239;361;361;272;272;228;272	ENSP00000296306:L272Q;ENSP00000439240:L239Q;ENSP00000311750:L361Q;ENSP00000415203:L361Q;ENSP00000424800:L272Q;ENSP00000426002:L272Q;ENSP00000372494:L228Q;ENSP00000421550:L272Q	ENSP00000296306:L272Q	L	+	2	0	PIGG	499942	0.986000	0.35501	0.259000	0.24435	0.248000	0.25809	6.557000	0.73937	2.063000	0.61619	0.533000	0.62120	CTG		0.453	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1		NM_017733		42	55	0	0	0	0.00874	0	42	55		
DGKQ	1609	broad.mit.edu	37	4	955317	955317	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr4:955317C>T	ENST00000273814.3	-	21	2585	c.2512G>A	c.(2512-2514)Gag>Aag	p.E838K	DGKQ_ENST00000502309.1_5'Flank	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	838					blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to ATP (GO:0033198)|thrombin receptor signaling pathway (GO:0070493)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|phospholipase binding (GO:0043274)			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGTGGCTTCTCAAACCTGGTG	0.701																																					Esophageal Squamous(17;537 645 4447 26373)	uc003gbw.2		NaN																	0				kidney(1)	1						c.(2512-2514)GAG>AAG		diacylglycerol kinase, theta							16.0	16.0	16.0					4																	955317		2183	4293	6476	SO:0001583	missense	1609				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding	g.chr4:955317C>T	L38707	CCDS3342.1	4p16.3	2008-08-29	2002-08-29		ENSG00000145214	ENSG00000145214			2856	protein-coding gene	gene with protein product		601207	"""diacylglycerol kinase, theta (110kD)"""	DAGK4		8617502, 9099683	Standard	NM_001347		Approved	DAGK, DAGK7	uc003gbw.4	P52824	OTTHUMG00000088629	ENST00000273814.3:c.2512G>A	4.37:g.955317C>T	ENSP00000273814:p.Glu838Lys					DGKQ_uc010ibn.2_Missense_Mutation_p.E825K	p.E838K	NM_001347	NP_001338	P52824	DGKQ_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		21	2586	-			838					Q6P3W4	Missense_Mutation	SNP	ENST00000273814.3	37	c.2512G>A	CCDS3342.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.506182	0.26949	.	.	ENSG00000145214	ENST00000273814;ENST00000515182	T;T	0.30182	1.54;1.54	5.54	5.54	0.83059	Diacylglycerol kinase, accessory domain (2);	0.102586	0.64402	D	0.000002	T	0.26774	0.0655	N	0.16098	0.37	0.45172	D	0.998183	B;P	0.46578	0.238;0.88	B;P	0.48952	0.126;0.596	T	0.02844	-1.1103	10	0.15066	T	0.55	.	16.9732	0.86306	0.0:1.0:0.0:0.0	.	838;838	E9KL49;P52824	.;DGKQ_HUMAN	K	838;53	ENSP00000273814:E838K;ENSP00000421756:E53K	ENSP00000273814:E838K	E	-	1	0	DGKQ	945317	0.733000	0.28132	0.998000	0.56505	0.223000	0.24884	1.884000	0.39668	2.618000	0.88619	0.556000	0.70494	GAG		0.701	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000200888.1				9	12	0	0	0	0.008291	0	9	12		
FGFR3	2261	broad.mit.edu	37	4	1803568	1803568	+	Missense_Mutation	SNP	C	C	G	rs121913483		TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr4:1803568C>G	ENST00000260795.2	+	6	848	c.746C>G	c.(745-747)tCc>tGc	p.S249C	FGFR3_ENST00000412135.2_Missense_Mutation_p.S249C|FGFR3_ENST00000340107.4_Missense_Mutation_p.S249C|FGFR3_ENST00000352904.1_Missense_Mutation_p.S249C|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000481110.2_Missense_Mutation_p.S249C|FGFR3_ENST00000440486.2_Missense_Mutation_p.S249C			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	249			S -> C (in KERSEB, bladder cancer, cervical cancer and TD1). {ECO:0000269|PubMed:10360402, ECO:0000269|PubMed:10471491, ECO:0000269|PubMed:15772091, ECO:0000269|PubMed:8589699, ECO:0000269|PubMed:8845844}.		alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)	p.S249C(1204)|p.R248_S249del(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	ACAGAGCGCTCCCCGCACCGG	0.736		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome																													uc003gdr.3		1		Dom	yes		4	4p16.3	2261	Mis|T	fibroblast growth factor receptor 3	yes	Hypochondroplasia|Thanatophoric dysplasia	"""L, E"""	IGH@|ETV6		bladder|MM|T-cell lymphoma		1205	Substitution - Missense(1204)|Deletion - In frame(1)	p.S249C(1368)|p.R248_S249insC(2)|p.S249T(1)|p.R248_S249del(1)	urinary_tract(1168)|skin(27)|cervix(5)|lung(4)|upper_aerodigestive_tract(1)	urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600	GRCh37	CM950470	FGFR3	M	rs121913483	c.(745-747)TCC>TGC		fibroblast growth factor receptor 3 isoform 1	Palifermin(DB00039)						13.0	16.0	15.0					4																	1803568		2180	4267	6447	SO:0001583	missense	2261	Muenke_syndrome|Saethre-Chotzen_syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1803568C>G	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.746C>G	4.37:g.1803568C>G	ENSP00000260795:p.Ser249Cys					FGFR3_uc003gdu.2_Missense_Mutation_p.S249C|FGFR3_uc003gds.3_Missense_Mutation_p.S249C|FGFR3_uc003gdq.3_Missense_Mutation_p.S249C|FGFR3_uc010icb.1_Missense_Mutation_p.S91C|FGFR3_uc003gdt.1_Missense_Mutation_p.S91C	p.S249C	NM_000142	NP_000133	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		7	1002	+		Breast(71;0.212)|all_epithelial(65;0.241)	249		S -> C (in KERSEB, bladder cancer, cervical cancer and TD1).	Extracellular (Potential).		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	37	c.746C>G	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	c	18.75	3.690127	0.68271	.	.	ENSG00000068078	ENST00000481110;ENST00000340107;ENST00000440486;ENST00000412135;ENST00000260795;ENST00000352904;ENST00000507588	D;T;T;T;T;T;T	0.82081	-1.57;-1.35;-1.33;-1.33;-1.33;-1.33;-1.32	3.94	3.94	0.45596	.	0.000000	0.85682	D	0.000000	D	0.92808	0.7713	M	0.92412	3.305	0.30597	A	0.239052	D;D;D;D;D;D	0.89917	0.998;0.997;1.0;1.0;1.0;1.0	P;D;D;D;D;D	0.80764	0.906;0.978;0.983;0.994;0.968;0.993	D	0.94822	0.7988	9	0.72032	D	0.01	.	16.2883	0.82736	0.0:1.0:0.0:0.0	.	212;249;249;249;249;249	Q8NI15;P22607-2;P22607-4;P22607-3;P22607;F8W9L4	.;.;.;.;FGFR3_HUMAN;.	C	249;249;249;249;249;249;69	ENSP00000420533:S249C;ENSP00000339824:S249C;ENSP00000414914:S249C;ENSP00000412903:S249C;ENSP00000260795:S249C;ENSP00000231803:S249C;ENSP00000427289:S69C	ENSP00000260795:S249C	S	+	2	0	FGFR3	1773366	1.000000	0.71417	1.000000	0.80357	0.445000	0.32107	7.424000	0.80242	1.903000	0.55091	0.436000	0.28706	TCC		0.736	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2		NM_000142		10	17	0	0	0	0.004007	0	10	17		
JAKMIP1	152789	broad.mit.edu	37	4	6114541	6114541	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr4:6114541C>T	ENST00000282924.5	-	2	522	c.37G>A	c.(37-39)Gag>Aag	p.E13K	JAKMIP1_ENST00000409371.3_Missense_Mutation_p.E13K|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.E13K|JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.E13K|JAKMIP1_ENST00000409021.3_Missense_Mutation_p.E13K	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	13	Mediates association with microtubules.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTCTCCATCTCGGGCTTCTCG	0.612																																						uc003giu.3		NaN																	0				large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						c.(37-39)GAG>AAG		janus kinase and microtubule interacting protein							120.0	95.0	104.0					4																	6114541		2203	4300	6503	SO:0001583	missense	152789				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	g.chr4:6114541C>T	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.37G>A	4.37:g.6114541C>T	ENSP00000282924:p.Glu13Lys					JAKMIP1_uc010idb.1_Missense_Mutation_p.E13K|JAKMIP1_uc010idc.1_Missense_Mutation_p.E13K|JAKMIP1_uc010idd.1_Missense_Mutation_p.E13K|JAKMIP1_uc011bwc.1_Missense_Mutation_p.E13K|JAKMIP1_uc003giv.3_Missense_Mutation_p.E13K|JAKMIP1_uc010ide.2_Missense_Mutation_p.E13K	p.E13K	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN			2	313	-			13			Mediates association with microtubules.		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	ENST00000282924.5	37	c.37G>A	CCDS3385.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944936	0.73672	.	.	ENSG00000152969	ENST00000409021;ENST00000409371;ENST00000418227;ENST00000425341;ENST00000429819;ENST00000282924;ENST00000409831;ENST00000410077	T;T;T;T;T	0.36157	1.58;1.31;1.57;1.57;1.27	3.94	3.94	0.45596	.	0.100459	0.43110	D	0.000615	T	0.32556	0.0833	L	0.35341	1.055	0.37786	D	0.927193	P;D;P;P;P	0.54047	0.89;0.964;0.761;0.935;0.792	B;P;B;B;B	0.44696	0.14;0.458;0.197;0.211;0.088	T	0.40979	-0.9534	10	0.56958	D	0.05	.	15.1499	0.72689	0.0:1.0:0.0:0.0	.	13;13;13;13;13	B4DHZ8;F2Z2K5;Q96N16-5;Q96N16-2;Q96N16	.;.;.;.;JKIP1_HUMAN	K	13	ENSP00000386711:E13K;ENSP00000387042:E13K;ENSP00000282924:E13K;ENSP00000386925:E13K;ENSP00000386745:E13K	ENSP00000282924:E13K	E	-	1	0	JAKMIP1	6165442	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	7.230000	0.78097	2.041000	0.60428	0.591000	0.81541	GAG		0.612	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2		NM_144720		22	62	0	0	0	0.00278	0	22	62		
NCAPG	64151	broad.mit.edu	37	4	17816575	17816575	+	Missense_Mutation	SNP	G	G	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr4:17816575G>T	ENST00000251496.2	+	4	820	c.644G>T	c.(643-645)gGg>gTg	p.G215V		NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	215					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		AAAATTGTAGGGCGCACCAAG	0.403																																						uc003gpp.2		NaN																	0				large_intestine(1)	1						c.(643-645)GGG>GTG		chromosome condensation protein G							95.0	89.0	91.0					4																	17816575		2203	4300	6503	SO:0001583	missense	64151				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding	g.chr4:17816575G>T	AF331796	CCDS3424.1	4p15.32	2014-01-15			ENSG00000109805	ENSG00000109805			24304	protein-coding gene	gene with protein product	"""chromosome condensation protein G"""	606280				10910072, 11136719	Standard	NM_022346		Approved	FLJ12450, hCAP-G, CAP-G, YCG1	uc003gpp.4	Q9BPX3	OTTHUMG00000128539	ENST00000251496.2:c.644G>T	4.37:g.17816575G>T	ENSP00000251496:p.Gly215Val					NCAPG_uc011bxj.1_5'UTR	p.G215V	NM_022346	NP_071741	Q9BPX3	CND3_HUMAN		STAD - Stomach adenocarcinoma(129;0.18)	4	820	+			215					Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Missense_Mutation	SNP	ENST00000251496.2	37	c.644G>T	CCDS3424.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.336271	0.41398	.	.	ENSG00000109805	ENST00000251496	T	0.44482	0.92	5.95	2.31	0.28768	Armadillo-like helical (1);Armadillo-type fold (1);	0.299368	0.41712	D	0.000836	T	0.36496	0.0969	L	0.53249	1.67	0.26774	N	0.969746	B	0.25351	0.124	B	0.24155	0.051	T	0.32587	-0.9901	10	0.56958	D	0.05	-4.9305	10.228	0.43238	0.2603:0.0:0.7397:0.0	.	215	Q9BPX3	CND3_HUMAN	V	215	ENSP00000251496:G215V	ENSP00000251496:G215V	G	+	2	0	NCAPG	17425673	0.996000	0.38824	0.722000	0.30670	0.940000	0.58332	2.870000	0.48451	0.409000	0.25649	0.655000	0.94253	GGG		0.403	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250375.1		NM_022346		36	47	1	0	4.00102e-26	0.00623	4.59918e-26	36	47		
KDR	3791	broad.mit.edu	37	4	55970921	55970921	+	Missense_Mutation	SNP	T	T	C	rs376258268		TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr4:55970921T>C	ENST00000263923.4	-	13	2171	c.1876A>G	c.(1876-1878)Atc>Gtc	p.I626V		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	626	Ig-like C2-type 6.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGCTCCATGATCAAAATGTCA	0.448			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												uc003has.2		NaN		Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			NSCLC|angiosarcoma		0				lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33						c.(1876-1878)ATC>GTC		kinase insert domain receptor precursor	Sorafenib(DB00398)|Sunitinib(DB01268)	T	VAL/ILE	0,4406		0,0,2203	127.0	112.0	117.0		1876	1.0	0.9	4		117	1,8599	1.2+/-3.3	0,1,4299	no	missense	KDR	NM_002253.2	29	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign	626/1357	55970921	1,13005	2203	4300	6503	SO:0001583	missense	3791	Familial_Infantile_Hemangioma			angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55970921T>C	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.1876A>G	4.37:g.55970921T>C	ENSP00000263923:p.Ile626Val	TSP Lung(20;0.16)				KDR_uc003hat.1_Missense_Mutation_p.I626V|KDR_uc011bzx.1_Missense_Mutation_p.I626V	p.I626V	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		13	2178	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		626			Ig-like C2-type 6.|Extracellular (Potential).		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.1876A>G	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	T	7.500	0.652510	0.14580	0.0	1.16E-4	ENSG00000128052	ENST00000263923	T	0.12569	2.67	5.99	0.973	0.19710	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.470612	0.23700	N	0.045427	T	0.08133	0.0203	N	0.25144	0.715	0.24583	N	0.993864	B;B	0.06786	0.001;0.0	B;B	0.06405	0.001;0.002	T	0.33007	-0.9885	10	0.27082	T	0.32	.	9.2143	0.37337	0.0:0.3376:0.0:0.6624	.	626;626	P35968-2;P35968	.;VGFR2_HUMAN	V	626	ENSP00000263923:I626V	ENSP00000263923:I626V	I	-	1	0	KDR	55665678	1.000000	0.71417	0.889000	0.34880	0.329000	0.28539	1.545000	0.36169	0.169000	0.19679	-0.290000	0.09829	ATC		0.448	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1				3	25	0	0	0	0.004672	0	3	25		
PROL1	58503	broad.mit.edu	37	4	71275374	71275374	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr4:71275374G>C	ENST00000399575.2	+	3	503	c.329G>C	c.(328-330)aGa>aCa	p.R110T	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	110	Pro-rich.				negative regulation of endopeptidase activity (GO:0010951)|regulation of sensory perception of pain (GO:0051930)|retina homeostasis (GO:0001895)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)|peptidase inhibitor activity (GO:0030414)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				TTCCCACTAAGACCTTACTAT	0.403																																						uc003hfi.2		NaN																	0				large_intestine(1)	1						c.(328-330)AGA>ACA		proline rich, lacrimal 1							212.0	202.0	205.0					4																	71275374		1860	4102	5962	SO:0001583	missense	58503				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity	g.chr4:71275374G>C	S83198	CCDS43235.1	4q13.3	2011-10-28	2005-02-07		ENSG00000171199	ENSG00000171199			17279	protein-coding gene	gene with protein product		608936	"""proline rich 1"""			8670737	Standard	NM_021225		Approved	BPLP, PRL1, opiorphin	uc003hfi.3	Q99935	OTTHUMG00000160845	ENST00000399575.2:c.329G>C	4.37:g.71275374G>C	ENSP00000382485:p.Arg110Thr						p.R110T	NM_021225	NP_067048	Q99935	PROL1_HUMAN			3	503	+		all_hematologic(202;0.196)	110			Pro-rich.		A8MZ07|P85047	Missense_Mutation	SNP	ENST00000399575.2	37	c.329G>C	CCDS43235.1	.	.	.	.	.	.	.	.	.	.	G	5.500	0.277305	0.10403	.	.	ENSG00000171199	ENST00000399575	.	.	.	1.97	-0.549	0.11829	.	.	.	.	.	T	0.37625	0.1010	L	0.48642	1.525	0.09310	N	1	D	0.55172	0.97	P	0.55713	0.782	T	0.24368	-1.0162	8	0.87932	D	0	.	1.7832	0.03036	0.2956:0.0:0.4074:0.297	.	110	Q99935	PROL1_HUMAN	T	110	.	ENSP00000382485:R110T	R	+	2	0	PROL1	71309963	0.000000	0.05858	0.010000	0.14722	0.027000	0.11550	-0.540000	0.06106	-0.173000	0.10761	0.591000	0.81541	AGA		0.403	PROL1-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000362639.1		NM_021225		26	120	0	0	0	0.010818	0	26	120		
ADAMTS3	9508	broad.mit.edu	37	4	73186565	73186565	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr4:73186565C>T	ENST00000286657.4	-	7	1004	c.968G>A	c.(967-969)gGa>gAa	p.G323E	RP11-373J21.1_ENST00000503918.1_RNA	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	323	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGATGGGTTTCCCCTTTCTAT	0.428																																					NSCLC(168;1941 2048 2918 13048 43078)	uc003hgk.1		NaN																	0				ovary(1)|lung(1)	2						c.(967-969)GGA>GAA		ADAM metallopeptidase with thrombospondin type 1							128.0	121.0	123.0					4																	73186565		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73186565C>T	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.968G>A	4.37:g.73186565C>T	ENSP00000286657:p.Gly323Glu						p.G323E	NM_014243	NP_055058	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		7	1005	-			323			Peptidase M12B.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.968G>A	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.715511	0.89112	.	.	ENSG00000156140	ENST00000286657	D	0.86497	-2.13	6.07	6.07	0.98685	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.92325	0.7565	L	0.58354	1.805	0.80722	D	1	D	0.71674	0.998	D	0.72982	0.979	D	0.89445	0.3726	10	0.30854	T	0.27	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	323	O15072	ATS3_HUMAN	E	323	ENSP00000286657:G323E	ENSP00000286657:G323E	G	-	2	0	ADAMTS3	73405429	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.768000	0.85345	2.885000	0.99019	0.655000	0.94253	GGA		0.428	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2				5	16	0	0	0	0.001168	0	5	16		
RASGEF1B	153020	broad.mit.edu	37	4	82362031	82362031	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr4:82362031C>T	ENST00000264400.2	-	10	1212	c.1061G>A	c.(1060-1062)gGg>gAg	p.G354E	RASGEF1B_ENST00000335927.7_Missense_Mutation_p.G312E|RASGEF1B_ENST00000509081.1_Missense_Mutation_p.G353E	NM_152545.1	NP_689758.1	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	354	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						TTGTGCTGCCCCACGAAGAGC	0.338																																						uc003hmi.1		NaN																	0					0						c.(1060-1062)GGG>GAG		RasGEF domain family, member 1B							169.0	175.0	173.0					4																	82362031		2203	4300	6503	SO:0001583	missense	153020				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr4:82362031C>T	AK056257	CCDS34022.1, CCDS75151.1, CCDS75152.1	4q21.21	2013-09-24				ENSG00000138670			24881	protein-coding gene	gene with protein product		614532				12488504	Standard	XM_005262776		Approved	GPIG4, FLJ31695	uc003hmi.1	Q0VAM2		ENST00000264400.2:c.1061G>A	4.37:g.82362031C>T	ENSP00000264400:p.Gly354Glu					RASGEF1B_uc003hmj.1_Missense_Mutation_p.G353E|RASGEF1B_uc010ijq.1_Missense_Mutation_p.G312E	p.G354E	NM_152545	NP_689758	Q0VAM2	RGF1B_HUMAN			10	1205	-			354			Ras-GEF.		Q0VAM1|Q4W5L7|Q4W5M3|Q96MY8	Missense_Mutation	SNP	ENST00000264400.2	37	c.1061G>A	CCDS34022.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.298092	0.60086	.	.	ENSG00000138670	ENST00000509081;ENST00000264400;ENST00000335927;ENST00000504863	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	5.16	4.25	0.50352	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.047745	0.85682	D	0.000000	T	0.26810	0.0656	L	0.31420	0.93	0.80722	D	1	P;P;B	0.35527	0.507;0.507;0.14	B;B;B	0.40565	0.323;0.323;0.333	T	0.02326	-1.1176	10	0.19147	T	0.46	.	16.1389	0.81509	0.0:0.8661:0.1339:0.0	.	312;353;354	Q0VAM2-2;Q0VAM2-3;Q0VAM2	.;.;RGF1B_HUMAN	E	353;354;312;199	ENSP00000425393:G353E;ENSP00000264400:G354E;ENSP00000338437:G312E;ENSP00000426929:G199E	ENSP00000264400:G354E	G	-	2	0	RASGEF1B	82581055	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	5.525000	0.67110	2.838000	0.97847	0.591000	0.81541	GGG		0.338	RASGEF1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362830.1		NM_152545		43	56	0	0	0	0.01441	0	43	56		
GAR1	54433	broad.mit.edu	37	4	110740212	110740212	+	Missense_Mutation	SNP	A	A	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr4:110740212A>T	ENST00000226796.6	+	4	689	c.425A>T	c.(424-426)cAg>cTg	p.Q142L	GAR1_ENST00000394631.3_Missense_Mutation_p.Q142L	NM_018983.3	NP_061856.1	Q9NY12	GAR1_HUMAN	GAR1 ribonucleoprotein	142					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|pseudouridine synthesis (GO:0001522)|rRNA processing (GO:0006364)	box H/ACA snoRNP complex (GO:0031429)|nucleolus (GO:0005730)|nucleus (GO:0005634)	cation channel activity (GO:0005261)|poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						AAAAAACTACAGAAGGTGAGT	0.343																																						uc003hzt.2		NaN																	0					0						c.(424-426)CAG>CTG		nucleolar protein family A, member 1							104.0	109.0	108.0					4																	110740212		2202	4300	6502	SO:0001583	missense	54433				rRNA processing|snRNA pseudouridine synthesis	box H/ACA snoRNP complex|Cajal body	cation channel activity|pseudouridine synthase activity|snoRNA binding	g.chr4:110740212A>T	AJ276003	CCDS34050.1	4q	2013-07-31	2013-07-31	2008-10-13	ENSG00000109534	ENSG00000109534			14264	protein-coding gene	gene with protein product		606468	"""nucleolar protein family A, member 1 (H/ACA small nucleolar RNPs)"", ""GAR1 ribonucleoprotein homolog (yeast)"""	NOLA1		10757788	Standard	XM_005263069		Approved		uc003hzu.3	Q9NY12	OTTHUMG00000161108	ENST00000226796.6:c.425A>T	4.37:g.110740212A>T	ENSP00000226796:p.Gln142Leu					GAR1_uc003hzu.2_Missense_Mutation_p.Q142L|GAR1_uc010imh.1_Missense_Mutation_p.Q142L|GAR1_uc010imi.2_Missense_Mutation_p.Q142L	p.Q142L	NM_018983	NP_061856	Q9NY12	GAR1_HUMAN			4	732	+			142					Q5MJQ2	Missense_Mutation	SNP	ENST00000226796.6	37	c.425A>T	CCDS34050.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.663167	0.88251	.	.	ENSG00000109534	ENST00000394631;ENST00000226796	.	.	.	5.48	5.48	0.80851	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	T	0.73071	0.3540	M	0.80616	2.505	0.80722	D	1	P;P	0.45986	0.842;0.87	P;P	0.49752	0.487;0.621	T	0.77728	-0.2479	9	0.66056	D	0.02	.	15.2292	0.73374	1.0:0.0:0.0:0.0	.	142;142	Q9NY12-2;Q9NY12	.;GAR1_HUMAN	L	142	.	ENSP00000226796:Q142L	Q	+	2	0	GAR1	110959661	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.974000	0.88039	2.081000	0.62600	0.482000	0.46254	CAG		0.343	GAR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363810.2				30	40	0	0	0	0.013726	0	30	40		
LRIT3	345193	broad.mit.edu	37	4	110789062	110789062	+	Silent	SNP	C	C	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr4:110789062C>A	ENST00000594814.1	+	3	855	c.855C>A	c.(853-855)atC>atA	p.I285I	LRIT3_ENST00000409621.2_Silent_p.I102I|LRIT3_ENST00000327908.3_Silent_p.I102I|LRIT3_ENST00000379920.3_Silent_p.I240I	NM_198506.3	NP_940908.3	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	285	Ig-like.				regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		CCCCACAGATCACATGGACCA	0.453																																						uc003hzx.3		NaN																	0					0						c.(718-720)ATC>ATA		leucine-rich repeat, immunoglobulin-like and							92.0	88.0	89.0					4																	110789062		2203	4300	6503	SO:0001819	synonymous_variant	345193					integral to membrane		g.chr4:110789062C>A	AK126648	CCDS3688.2, CCDS3688.3	4q25	2014-01-28	2007-06-19		ENSG00000183423	ENSG00000183423		"""Immunoglobulin superfamily / I-set domain containing"""	24783	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 4"""	615004					Standard	NM_198506		Approved	FLJ44691, FIGLER4, CSNB1F	uc031sgv.1	Q3SXY7	OTTHUMG00000132043	ENST00000594814.1:c.855C>A	4.37:g.110789062C>A						LRIT3_uc003hzw.3_Silent_p.I102I	p.I240I	NM_198506	NP_940908	Q3SXY7	LRIT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0011)	2	913	+			240			Ig-like.		C9J1C2|Q6ZTG1	Silent	SNP	ENST00000594814.1	37	c.720C>A	CCDS3688.3																																																																																				0.453	LRIT3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335270.2		NM_198506		5	37	1	0	0.00198382	0.001984	0.00203077	5	37		
SLC9A3	6550	broad.mit.edu	37	5	476428	476428	+	Silent	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr5:476428G>A	ENST00000264938.3	-	13	1965	c.1956C>T	c.(1954-1956)atC>atT	p.I652I	CTD-2228K2.7_ENST00000606288.1_RNA|CTD-2228K2.7_ENST00000606319.1_RNA|SLC9A3_ENST00000514375.1_Silent_p.I643I|CTD-2228K2.7_ENST00000607005.1_RNA|CTD-2228K2.7_ENST00000607286.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	652	Interaction with PDZD3. {ECO:0000250}.				ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TCCTGTGGAAGATTTCCCGGT	0.607																																						uc003jbe.2		NaN																	0					0						c.(1954-1956)ATC>ATT		solute carrier family 9 (sodium/hydrogen							127.0	122.0	123.0					5																	476428		2203	4300	6503	SO:0001819	synonymous_variant	6550					cell surface|integral to membrane	sodium:hydrogen antiporter activity	g.chr5:476428G>A		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"""Solute carriers"""	11073	protein-coding gene	gene with protein product		182307	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3"""	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.1956C>T	5.37:g.476428G>A						SLC9A3_uc011clx.1_Silent_p.I643I|uc011cly.1_5'Flank	p.I652I	NM_004174	NP_004165	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		13	2068	-			652			Interaction with PDZD3 (By similarity).|Cytoplasmic (Potential).		B7ZKR2|E9PF67|Q3MIW3	Silent	SNP	ENST00000264938.3	37	c.1956C>T	CCDS3855.1																																																																																				0.607	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2		NM_004174		64	19	0	0	0	0.01441	0	64	19		
CTNND2	1501	broad.mit.edu	37	5	11022943	11022943	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr5:11022943C>T	ENST00000304623.8	-	17	3126	c.2937G>A	c.(2935-2937)aaG>aaA	p.K979K	CTNND2_ENST00000511377.1_Silent_p.K888K|CTNND2_ENST00000458100.2_Silent_p.K546K|CTNND2_ENST00000359640.2_Silent_p.K921K|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Silent_p.K642K	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	979					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CCCGTAAGGCCTTGGCGTTCT	0.512																																						uc003jfa.1		NaN																	0				large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(2935-2937)AAG>AAA		catenin (cadherin-associated protein), delta 2							217.0	164.0	182.0					5																	11022943		2203	4300	6503	SO:0001819	synonymous_variant	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11022943C>T	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2937G>A	5.37:g.11022943C>T						CTNND2_uc010itt.2_Silent_p.K888K|CTNND2_uc011cmy.1_Silent_p.K642K|CTNND2_uc011cmz.1_Silent_p.K546K|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Silent_p.K571K	p.K979K	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			17	3082	-			979			ARM 9.		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	ENST00000304623.8	37	c.2937G>A	CCDS3881.1																																																																																				0.512	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1		NM_001332		9	28	0	0	0	0.008291	0	9	28		
HCN1	348980	broad.mit.edu	37	5	45645317	45645317	+	Missense_Mutation	SNP	C	C	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr5:45645317C>A	ENST00000303230.4	-	2	876	c.819G>T	c.(817-819)agG>agT	p.R273S		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	273					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ATCTAATTAACCTTGAAAGTC	0.328																																						uc003jok.2		NaN																	0				ovary(1)	1						c.(817-819)AGG>AGT		hyperpolarization activated cyclic							41.0	41.0	41.0					5																	45645317		2203	4299	6502	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45645317C>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.819G>T	5.37:g.45645317C>A	ENSP00000307342:p.Arg273Ser						p.R273S	NM_021072	NP_066550	O60741	HCN1_HUMAN			2	844	-			273			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000303230.4	37	c.819G>T	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466000	0.63625	.	.	ENSG00000164588	ENST00000303230	D	0.99594	-6.25	5.5	0.618	0.17624	Ion transport (1);	0.000000	0.64402	D	0.000002	D	0.99278	0.9748	M	0.90977	3.165	0.54753	D	0.999988	P	0.45902	0.868	P	0.47915	0.561	D	0.98545	1.0634	10	0.87932	D	0	.	10.3583	0.43977	0.0:0.5135:0.0:0.4865	.	273	O60741	HCN1_HUMAN	S	273	ENSP00000307342:R273S	ENSP00000307342:R273S	R	-	3	2	HCN1	45681074	0.770000	0.28543	0.998000	0.56505	0.998000	0.95712	-0.058000	0.11750	0.040000	0.15660	0.650000	0.86243	AGG		0.328	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1		NM_021072		6	2	1	0	0.00116845	0.001168	0.00119965	6	2		
PLK2	10769	broad.mit.edu	37	5	57755666	57755666	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr5:57755666C>T	ENST00000274289.3	-	1	421	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K	PLK2_ENST00000502671.1_5'Flank	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	41					G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		GGCTGCGATTCCTCGGGGGGC	0.677																																						uc003jrn.2		NaN																	0				ovary(2)|lung(1)|skin(1)	4						c.(121-123)GAA>AAA		polo-like kinase 2							13.0	18.0	16.0					5																	57755666		2194	4289	6483	SO:0001583	missense	10769				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr5:57755666C>T		CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"""serum-inducible kinase"""	607023	"""polo-like kinase 2 (Drosophila)"""				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.121G>A	5.37:g.57755666C>T	ENSP00000274289:p.Glu41Lys					PLK2_uc011cql.1_5'Flank	p.E41K	NM_006622	NP_006613	Q9NYY3	PLK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)	1	248	-		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)	41					O60679|Q96CV7|Q9UE61	Missense_Mutation	SNP	ENST00000274289.3	37	c.121G>A	CCDS3974.1	.	.	.	.	.	.	.	.	.	.	C	5.270	0.235178	0.09969	.	.	ENSG00000145632	ENST00000274289;ENST00000537944;ENST00000442330	T	0.66460	-0.21	5.26	5.26	0.73747	.	0.750787	0.12349	N	0.476724	T	0.44808	0.1311	N	0.08118	0	0.32327	N	0.561551	B	0.20261	0.043	B	0.12156	0.007	T	0.30179	-0.9987	10	0.06494	T	0.89	-0.3003	14.732	0.69388	0.0:1.0:0.0:0.0	.	41	Q9NYY3	PLK2_HUMAN	K	41	ENSP00000274289:E41K	ENSP00000274289:E41K	E	-	1	0	PLK2	57791423	1.000000	0.71417	0.805000	0.32314	0.014000	0.08584	4.439000	0.59968	2.619000	0.88677	0.561000	0.74099	GAA		0.677	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214150.1		NM_006622		19	7	0	0	0	0.008871	0	19	7		
TRAPPC13	80006	broad.mit.edu	37	5	64920912	64920912	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr5:64920912G>C	ENST00000399438.3	+	1	370	c.25G>C	c.(25-27)Gag>Cag	p.E9Q	TRAPPC13_ENST00000505553.1_Missense_Mutation_p.E9Q|TRAPPC13_ENST00000545191.1_Missense_Mutation_p.E9Q|TRAPPC13_ENST00000438419.2_Missense_Mutation_p.E9Q|TRIM23_ENST00000231524.9_5'Flank|TRAPPC13_ENST00000231526.4_Missense_Mutation_p.E9Q|CTC-534A2.2_ENST00000510585.2_5'UTR|TRIM23_ENST00000381018.3_5'Flank|TRIM23_ENST00000274327.7_5'Flank	NM_001093755.1|NM_024941.3	NP_001087224.1|NP_079217.2	A5PLN9	TPC13_HUMAN	trafficking protein particle complex 13	9								p.E9Q(1)									CCCTAAACAGGAGCACCTGCT	0.512																																						uc003jtz.3		NaN																	1	Substitution - Missense(1)		breast(1)	ovary(1)	1						c.(25-27)GAG>CAG		hypothetical protein LOC80006 isoform 2							112.0	118.0	116.0					5																	64920912		1866	4100	5966	SO:0001583	missense	80006							g.chr5:64920912G>C		CCDS47221.1, CCDS47222.1, CCDS47223.1, CCDS58950.1	5q12.3	2013-01-31	2013-01-24	2013-01-24	ENSG00000113597	ENSG00000113597			25828	protein-coding gene	gene with protein product	"""Trs65-related"""		"""chromosome 5 open reading frame 44"""	C5orf44		12477932	Standard	NM_024941		Approved	FLJ13611, FLJ26957, MGC48585	uc010iwu.1	A5PLN9	OTTHUMG00000163649	ENST00000399438.3:c.25G>C	5.37:g.64920912G>C	ENSP00000382367:p.Glu9Gln					TRIM23_uc003jtw.2_5'Flank|TRIM23_uc003jtx.2_5'Flank|TRIM23_uc003jty.2_5'Flank|C5orf44_uc010iwu.1_5'UTR|C5orf44_uc003jua.3_Missense_Mutation_p.E9Q|C5orf44_uc003juc.3_Missense_Mutation_p.E9Q|C5orf44_uc010iwv.2_Missense_Mutation_p.E9Q	p.E9Q	NM_024941	NP_079217	A5PLN9	CE044_HUMAN			1	355	+			9					Q17RZ9|Q49A23|Q4JHG0|Q6MZG4|Q8TCM2|Q9H8I3	Missense_Mutation	SNP	ENST00000399438.3	37	c.25G>C	CCDS47222.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.926527	0.92319	.	.	ENSG00000113597	ENST00000399438;ENST00000438419;ENST00000231526;ENST00000505553;ENST00000545191	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	T	0.73497	0.3594	M	0.68593	2.085	0.80722	D	1	D;D;D;D	0.58268	0.982;0.982;0.982;0.97	P;P;P;P	0.55391	0.693;0.775;0.693;0.496	T	0.69476	-0.5135	8	0.31617	T	0.26	.	19.5755	0.95441	0.0:0.0:1.0:0.0	.	9;9;9;9	A5PLN9-4;A5PLN9-2;A5PLN9-5;A5PLN9	.;.;.;CE044_HUMAN	Q	9	.	ENSP00000231526:E9Q	E	+	1	0	C5orf44	64956668	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.284000	0.78650	2.865000	0.98341	0.655000	0.94253	GAG		0.512	TRAPPC13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370113.1		NM_024941		14	7	0	0	0	0.00499	0	14	7		
CAST	831	broad.mit.edu	37	5	96100940	96100940	+	Missense_Mutation	SNP	C	C	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr5:96100940C>A	ENST00000341926.3	+	24	1861	c.1699C>A	c.(1699-1701)Ctc>Atc	p.L567I	CAST_ENST00000508579.1_Missense_Mutation_p.L282I|CAST_ENST00000504465.1_Missense_Mutation_p.L495I|CAST_ENST00000511049.1_Missense_Mutation_p.L552I|ERAP1_ENST00000296754.3_Intron|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000515663.1_Missense_Mutation_p.L290I|CAST_ENST00000309190.5_Missense_Mutation_p.L545I|CAST_ENST00000510756.1_Missense_Mutation_p.L628I|CAST_ENST00000338252.3_Missense_Mutation_p.L554I|CAST_ENST00000508608.1_Missense_Mutation_p.L613I|CAST_ENST00000325674.7_Missense_Mutation_p.L615I|CAST_ENST00000511782.1_Missense_Mutation_p.L553I|CAST_ENST00000508830.1_Missense_Mutation_p.L650I|CAST_ENST00000359176.4_Missense_Mutation_p.L631I|CAST_ENST00000509903.1_Missense_Mutation_p.L532I|CAST_ENST00000395812.2_Missense_Mutation_p.L609I|CAST_ENST00000395813.1_Missense_Mutation_p.L650I			P20810	ICAL_HUMAN	calpastatin	567					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|poly(A) RNA binding (GO:0044822)	p.L545I(1)		breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		TGACAAAGACCTCGATGATGC	0.403																																						uc003klz.1		NaN																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|ovary(1)|kidney(1)	5						c.(1699-1701)CTC>ATC		calpastatin isoform i							140.0	142.0	141.0					5																	96100940		2203	4300	6503	SO:0001583	missense	831						calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding	g.chr5:96100940C>A	AF327443	CCDS4082.1, CCDS54882.1, CCDS54883.1, CCDS75279.1	5q15	2012-09-20			ENSG00000153113	ENSG00000153113			1515	protein-coding gene	gene with protein product		114090				8340353, 14685690, 15820218	Standard	NM_173060		Approved		uc003klx.3	P20810	OTTHUMG00000128413	ENST00000341926.3:c.1699C>A	5.37:g.96100940C>A	ENSP00000339914:p.Leu567Ile					CAST_uc003klt.2_Missense_Mutation_p.L554I|CAST_uc003klu.2_Missense_Mutation_p.L650I|CAST_uc003klv.2_Missense_Mutation_p.L628I|CAST_uc003klw.2_Missense_Mutation_p.L631I|CAST_uc003klx.2_Missense_Mutation_p.L609I|CAST_uc003kly.2_Missense_Mutation_p.L615I|CAST_uc011cuo.1_Missense_Mutation_p.L613I|CAST_uc011cur.1_Missense_Mutation_p.L553I|CAST_uc011cus.1_Missense_Mutation_p.L554I|CAST_uc003kma.1_Missense_Mutation_p.L525I|CAST_uc011cut.1_Missense_Mutation_p.L495I|CAST_uc003kmb.2_Missense_Mutation_p.L513I|CAST_uc003kmc.2_Missense_Mutation_p.L567I|CAST_uc003kmd.2_Missense_Mutation_p.L545I|CAST_uc003kme.2_Missense_Mutation_p.L526I|CAST_uc003kmf.2_Missense_Mutation_p.L532I|CAST_uc003kmh.2_Missense_Mutation_p.L281I|CAST_uc010jbj.2_Missense_Mutation_p.L282I|CAST_uc010jbk.2_Missense_Mutation_p.L282I|CAST_uc010jbl.1_Missense_Mutation_p.L290I|CAST_uc003kmi.2_RNA|CAST_uc003kmj.2_Missense_Mutation_p.L289I|CAST_uc003kmk.2_RNA|ERAP1_uc003kml.2_Intron	p.L567I	NM_001042443	NP_001035908	P20810	ICAL_HUMAN		all cancers(79;6.85e-15)	24	1861	+		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)	567					B7Z468|G5E946|G5E9D3|O95360|Q05DE8|Q7Z4K0|Q96D08|Q9H1Z5	Missense_Mutation	SNP	ENST00000341926.3	37	c.1699C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.87|13.87	2.367008|2.367008	0.41902|0.41902	.|.	.|.	ENSG00000153113|ENSG00000153113	ENST00000338252;ENST00000508830;ENST00000395813;ENST00000359176;ENST00000325674;ENST00000395812;ENST00000510756;ENST00000508608;ENST00000341926;ENST00000511049;ENST00000309190;ENST00000510156;ENST00000504465;ENST00000509903;ENST00000511782;ENST00000508579;ENST00000515663|ENST00000510500	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.18016|.	2.24;2.24;2.24;2.24;2.24;2.24;2.24;2.24;2.24;2.24;2.24;2.24;2.24;2.24;2.24;2.24;2.24|.	5.8|5.8	4.93|4.93	0.64822|0.64822	.|.	0.322125|.	0.29783|.	N|.	0.011219|.	T|T	0.75361|0.75361	0.3839|0.3839	M|M	0.79123|0.79123	2.44|2.44	0.80722|0.80722	D|D	1|1	D;D;B;D;B;D;D;D;D;D;D;D;D;D;D;D|.	0.76494|.	0.999;0.994;0.322;0.997;0.322;0.999;0.999;0.999;0.999;0.999;0.998;0.998;0.999;0.996;0.999;0.998|.	D;D;B;D;B;D;D;D;D;D;D;D;D;D;D;D|.	0.91635|.	0.997;0.992;0.156;0.95;0.156;0.994;0.999;0.99;0.986;0.999;0.995;0.999;0.99;0.969;0.999;0.997|.	T|T	0.76846|0.76846	-0.2808|-0.2808	10|5	0.31617|.	T|.	0.26|.	-3.6719|-3.6719	15.1711|15.1711	0.72875|0.72875	0.1424:0.8576:0.0:0.0|0.1424:0.8576:0.0:0.0	.|.	495;613;290;318;289;552;532;545;526;567;615;609;631;628;650;554|.	E9PDE4;B7Z468;E7EQA0;Q86YM9;E7EPY6;E7EVY3;E9PCH5;G5E946;P20810-4;P20810;P20810-5;G5E9D3;P20810-7;E7ESM9;P20810-6;P20810-2|.	.;.;.;.;.;.;.;.;.;ICAL_HUMAN;.;.;.;.;.;.|.	I|H	554;650;650;631;615;609;628;613;567;552;545;567;495;532;553;282;290|323	ENSP00000343421:L554I;ENSP00000425721:L650I;ENSP00000379158:L650I;ENSP00000352098:L631I;ENSP00000320319:L615I;ENSP00000379157:L609I;ENSP00000422176:L628I;ENSP00000422677:L613I;ENSP00000339914:L567I;ENSP00000421130:L552I;ENSP00000312523:L545I;ENSP00000422325:L567I;ENSP00000425670:L495I;ENSP00000426946:L532I;ENSP00000423638:L553I;ENSP00000425787:L282I;ENSP00000422929:L290I|.	ENSP00000312523:L545I|.	L|P	+|+	1|2	0|0	CAST|CAST	96126696|96126696	0.369000|0.369000	0.25039|0.25039	0.436000|0.436000	0.26797|0.26797	0.246000|0.246000	0.25737|0.25737	1.690000|1.690000	0.37711|0.37711	1.430000|1.430000	0.47334|0.47334	-0.182000|-0.182000	0.12963|0.12963	CTC|CCT		0.403	CAST-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000250199.2		NM_173062		17	8	1	0	1.15088e-07	0.004007	1.22902e-07	17	8		
PCDHA6	56142	broad.mit.edu	37	5	140209959	140209959	+	Silent	SNP	G	G	A	rs150255684	byFrequency	TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr5:140209959G>A	ENST00000529310.1	+	1	2397	c.2283G>A	c.(2281-2283)ggG>ggA	p.G761G	PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	761					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGCTCCGGGGAGGGCCCAC	0.607													.|||	2	0.000399361	0.0	0.0	5008	,	,		12571	0.0		0.002	False		,,,				2504	0.0					uc003lho.2		NaN																	0				haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						c.(2281-2283)GGG>GGA		protocadherin alpha 6 isoform 1 precursor		G	,,,,,,,,	6,4400	9.9+/-24.2	0,6,2197	50.0	53.0	52.0		,,,,,2283,,2283,	-4.9	0.9	5	dbSNP_134	52	19,8581	13.3+/-46.6	0,19,4281	no	intron,intron,intron,intron,intron,coding-synonymous,intron,coding-synonymous,intron	PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_031411.1,NM_031848.1,NM_031849.1	,,,,,,,,	0,25,6478	AA,AG,GG		0.2209,0.1362,0.1922	,,,,,,,,	,,,,,761/951,,761/804,	140209959	25,12981	2203	4300	6503	SO:0001819	synonymous_variant	56142				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140209959G>A	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.2283G>A	5.37:g.140209959G>A						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc011dab.1_Silent_p.G761G	p.G761G	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2310	+			761			Cytoplasmic (Potential).		O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	c.2283G>A	CCDS47281.1																																																																																				0.607	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3		NM_018909		11	44	0	0	0	0.008291	0	11	44		
FAT2	2196	broad.mit.edu	37	5	150946090	150946090	+	Silent	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr5:150946090G>A	ENST00000261800.5	-	1	2415	c.2403C>T	c.(2401-2403)tcC>tcT	p.S801S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	801	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTTCCAGGAGGACTTCTGGG	0.512																																						uc003lue.3		NaN																	0				ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(2401-2403)TCC>TCT		FAT tumor suppressor 2 precursor							101.0	96.0	98.0					5																	150946090		2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150946090G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.2403C>T	5.37:g.150946090G>A						GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Silent_p.S801S	p.S801S	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	2416	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	801			Extracellular (Potential).|Cadherin 6.		O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.2403C>T	CCDS4317.1																																																																																				0.512	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1		NM_001447		46	10	0	0	0	0.01441	0	46	10		
DOCK2	1794	broad.mit.edu	37	5	169477279	169477279	+	Missense_Mutation	SNP	G	G	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr5:169477279G>T	ENST00000256935.8	+	41	4171	c.4091G>T	c.(4090-4092)cGc>cTc	p.R1364L	DOCK2_ENST00000520908.1_Missense_Mutation_p.R856L|DOCK2_ENST00000540750.1_Missense_Mutation_p.R425L|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1364	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCATCTACCGCGGGAAGGAA	0.502																																						uc003maf.2		NaN																	0				ovary(5)|pancreas(2)	7						c.(4090-4092)CGC>CTC		dedicator of cytokinesis 2							142.0	145.0	144.0					5																	169477279		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169477279G>T	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4091G>T	5.37:g.169477279G>T	ENSP00000256935:p.Arg1364Leu					DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.R856L	p.R1364L	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		41	4171	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1364			DHR-2.|Interaction with CRKL.		Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.4091G>T	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	33	5.237041	0.95240	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.15139	3.14;2.74;2.45	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.55481	0.1923	M	0.94021	3.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.991	T	0.68108	-0.5496	10	0.87932	D	0	.	19.2069	0.93734	0.0:0.0:1.0:0.0	.	856;1364	E7ERW7;Q92608	.;DOCK2_HUMAN	L	1364;856;425	ENSP00000256935:R1364L;ENSP00000429283:R856L;ENSP00000438827:R425L	ENSP00000256935:R1364L	R	+	2	0	DOCK2	169409857	1.000000	0.71417	0.995000	0.50966	0.939000	0.58152	9.869000	0.99810	2.547000	0.85894	0.655000	0.94253	CGC		0.502	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2		NM_004946		35	70	1	0	1.42033e-22	0.004289	1.606e-22	35	70		
SLC22A23	63027	broad.mit.edu	37	6	3284172	3284172	+	Silent	SNP	C	C	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr6:3284172C>A	ENST00000406686.3	-	9	1616	c.1617G>T	c.(1615-1617)gcG>gcT	p.A539A	SLC22A23_ENST00000380302.4_Silent_p.A258A|SLC22A23_ENST00000490273.1_Silent_p.A258A|SLC22A23_ENST00000436008.2_Silent_p.A547A|PSMG4_ENST00000451246.2_Intron	NM_015482.1	NP_056297.1	A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	539					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				CGATGGAAAACGCGATGGAAA	0.587																																						uc003mvm.3		NaN																	0				ovary(1)	1						c.(1615-1617)GCG>GCT		solute carrier family 22, member 23 isoform a							107.0	94.0	98.0					6																	3284172		2203	4300	6503	SO:0001819	synonymous_variant	63027				ion transport	integral to membrane	transmembrane transporter activity	g.chr6:3284172C>A	AJ420525	CCDS34331.1, CCDS47363.1, CCDS75389.1	6p25.2	2013-05-22	2008-01-11	2008-01-11	ENSG00000137266	ENSG00000137266		"""Solute carriers"""	21106	protein-coding gene	gene with protein product		611697	"""chromosome 6 open reading frame 85"""	C6orf85		17714910	Standard	NM_015482		Approved	FLJ22174	uc003mvm.3	A1A5C7	OTTHUMG00000014144	ENST00000406686.3:c.1617G>T	6.37:g.3284172C>A						uc003mvi.1_Intron|SLC22A23_uc003mvn.3_Silent_p.A258A|SLC22A23_uc003mvo.3_Silent_p.A258A|SLC22A23_uc003mvp.1_RNA|SLC22A23_uc010jnn.2_Silent_p.A539A	p.A539A	NM_015482	NP_056297	A1A5C7	S22AN_HUMAN			9	1617	-	Ovarian(93;0.0493)	all_hematologic(90;0.0905)	539			Helical; (Potential).		A1A5C8|Q5T8B8|Q6ZMH3|Q8IW73	Silent	SNP	ENST00000406686.3	37	c.1617G>T	CCDS47363.1																																																																																				0.587	SLC22A23-006	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353059.1		NM_021945		14	22	1	0	9.31168e-06	0.001855	9.73366e-06	14	22		
RREB1	6239	broad.mit.edu	37	6	7230402	7230402	+	Silent	SNP	G	G	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr6:7230402G>T	ENST00000349384.6	+	10	2384	c.2070G>T	c.(2068-2070)ctG>ctT	p.L690L	RREB1_ENST00000379938.2_Silent_p.L690L|RREB1_ENST00000379933.3_Silent_p.L690L|RREB1_ENST00000334984.6_Silent_p.L690L	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	690					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				TCCGCCACCTGCGCACGCACA	0.627																																						uc003mxc.2		NaN																	0				ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11						c.(2068-2070)CTG>CTT		ras responsive element binding protein 1 isoform							62.0	56.0	58.0					6																	7230402		2203	4300	6503	SO:0001819	synonymous_variant	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7230402G>T	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.2070G>T	6.37:g.7230402G>T						RREB1_uc003mxb.2_Silent_p.L690L|RREB1_uc010jnx.2_Silent_p.L690L	p.L690L	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN			10	2460	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	690			C2H2-type 8.		A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	ENST00000349384.6	37	c.2070G>T	CCDS34336.1																																																																																				0.627	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1				17	39	1	0	8.60227e-14	0.004007	9.47894e-14	17	39		
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	byFrequency	TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr6:29910693A>G	ENST00000396634.1	+	4	574	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	78	Alpha-1.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.Q78R(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												uc003nol.2		NaN																	2	Substitution - Missense(2)		lung(1)|endometrium(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(232-234)CAG>CGG		major histocompatibility complex, class I, A							54.0	57.0	56.0					6																	29910693		2203	4299	6502	SO:0001583	missense	3105	Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910693A>G	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.233A>G	6.37:g.29910693A>G	ENSP00000379873:p.Gln78Arg	Multiple Myeloma(9;0.094)				HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_Intron|HLA-A_uc010jrq.2_5'UTR|HLA-A_uc003nok.2_5'UTR|HLA-A_uc003non.2_Missense_Mutation_p.Q78R|HLA-A_uc003noo.2_Missense_Mutation_p.Q78R|HLA-A_uc010jrr.2_Missense_Mutation_p.Q78R|HLA-A_uc003nom.2_5'UTR|HLA-A_uc010klp.2_Missense_Mutation_p.Q50R|HLA-A_uc011dmc.1_5'UTR|HLA-A_uc011dmd.1_5'Flank	p.Q78R	NM_002116	NP_002107	P30443	1A01_HUMAN			2	233	+			78			Extracellular (Potential).|Alpha-1.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	c.233A>G	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	9.798	1.179669	0.21787	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	T;T;T;T	0.00784	5.7;5.7;5.7;5.7	3.72	-4.39	0.03611	MHC class I, alpha chain, alpha1/alpha2 (3);MHC classes I/II-like antigen recognition protein (3);MHC class I-like antigen recognition (3);	1.398580	0.06189	N	0.681068	T	0.00815	0.0027	L	0.56280	1.765	0.09310	N	1	B;P;B;P;B	0.42483	0.0;0.781;0.0;0.781;0.0	B;D;B;D;B	0.71184	0.006;0.972;0.01;0.972;0.01	T	0.44952	-0.9294	10	0.87932	D	0	.	0.9552	0.01384	0.3504:0.1689:0.3159:0.1647	rs41559716	78;78;78;78;78	P13746;Q5SRN7;P16188;Q5SRN5;P04439	1A11_HUMAN;.;1A30_HUMAN;.;1A03_HUMAN	R	78	ENSP00000379873:Q78R;ENSP00000366002:Q78R;ENSP00000366005:Q78R;ENSP00000365998:Q78R	ENSP00000348012:Q78R	Q	+	2	0	HLA-A	30018672	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-0.990000	0.03732	-0.910000	0.03847	-0.450000	0.05554	CAG		0.657	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1		NM_002116		4	33	0	0	0	0.00308	0	4	33		
TRERF1	55809	broad.mit.edu	37	6	42231063	42231063	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr6:42231063C>G	ENST00000372922.4	-	8	2441	c.1879G>C	c.(1879-1881)Gtg>Ctg	p.V627L	TRERF1_ENST00000372917.4_Intron|TRERF1_ENST00000340840.2_Intron|TRERF1_ENST00000541110.1_Missense_Mutation_p.V627L|TRERF1_ENST00000354325.2_Intron	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	627	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTCACGAGCACAGGCATCTCG	0.682																																						uc003osd.2		NaN																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(1879-1881)GTG>CTG		transcriptional regulating factor 1							66.0	69.0	68.0					6																	42231063		2203	4300	6503	SO:0001583	missense	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42231063C>G	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.1879G>C	6.37:g.42231063C>G	ENSP00000362013:p.Val627Leu					TRERF1_uc011duq.1_Intron|TRERF1_uc003osb.2_Intron|TRERF1_uc003osc.2_Intron|TRERF1_uc003ose.2_Missense_Mutation_p.V627L	p.V627L	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		8	2442	-	Colorectal(47;0.196)		627			Pro-rich.|Interacts with CREBBP.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	ENST00000372922.4	37	c.1879G>C	CCDS4867.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.556732	0.65425	.	.	ENSG00000124496	ENST00000541110;ENST00000372922	T;T	0.15256	2.44;2.82	4.98	4.1	0.47936	.	0.000000	0.50627	D	0.000109	T	0.06096	0.0158	L	0.29908	0.895	0.80722	D	1	B;B	0.30851	0.297;0.089	B;B	0.28385	0.089;0.061	T	0.13899	-1.0492	10	0.45353	T	0.12	-9.2559	13.5875	0.61940	0.0:0.9237:0.0:0.0763	.	627;627	Q05GC8;Q96PN7	.;TREF1_HUMAN	L	627	ENSP00000439689:V627L;ENSP00000362013:V627L	ENSP00000362013:V627L	V	-	1	0	TRERF1	42339041	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	2.190000	0.42630	1.067000	0.40740	0.561000	0.74099	GTG		0.682	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2		NM_033502		31	80	0	0	0	0.003755	0	31	80		
UBR2	23304	broad.mit.edu	37	6	42625826	42625826	+	Silent	SNP	T	T	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr6:42625826T>G	ENST00000372899.1	+	27	3195	c.2937T>G	c.(2935-2937)gcT>gcG	p.A979A	UBR2_ENST00000372883.3_Silent_p.A483A|UBR2_ENST00000372901.1_Silent_p.A979A	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	979					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TACAAAATGCTCCCTACCTAG	0.373																																						uc011dur.1		NaN																	0				ovary(3)|pancreas(1)	4						c.(2935-2937)GCT>GCG		ubiquitin protein ligase E3 component n-recognin							176.0	180.0	178.0					6																	42625826		2203	4300	6503	SO:0001819	synonymous_variant	23304				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42625826T>G	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.2937T>G	6.37:g.42625826T>G						UBR2_uc011dus.1_Silent_p.A624A|UBR2_uc003osh.2_RNA	p.A979A	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		27	2937	+	Colorectal(47;0.196)		979					O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Silent	SNP	ENST00000372899.1	37	c.2937T>G	CCDS4870.1																																																																																				0.373	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2		NM_015255		56	73	0	0	0	0.01441	0	56	73		
CUL7	9820	broad.mit.edu	37	6	43008026	43008026	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr6:43008026C>T	ENST00000265348.3	-	22	4247	c.4162G>A	c.(4162-4164)Gaa>Aaa	p.E1388K	CUL7_ENST00000535468.1_Missense_Mutation_p.E1472K			Q14999	CUL7_HUMAN	cullin 7	1388					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			ACAGACACTTCTGGCATTGCC	0.592																																						uc003otq.2		NaN																	0				ovary(3)|kidney(1)	4						c.(4162-4164)GAA>AAA		cullin 7							180.0	124.0	143.0					6																	43008026		2203	4300	6503	SO:0001583	missense	9820				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	g.chr6:43008026C>T	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.4162G>A	6.37:g.43008026C>T	ENSP00000265348:p.Glu1388Lys					CUL7_uc010jyg.2_Missense_Mutation_p.E667K|CUL7_uc011dvb.1_Missense_Mutation_p.E1472K|CUL7_uc010jyh.2_Missense_Mutation_p.E381K|KLC4_uc003otr.1_5'Flank	p.E1388K	NM_014780	NP_055595	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		22	4465	-			1388					B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	ENST00000265348.3	37	c.4162G>A	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.843959	0.51164	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.73681	-0.77;-0.77	5.71	3.94	0.45596	Cullin, N-terminal (1);Cullin homology (2);	0.142736	0.64402	N	0.000007	T	0.51924	0.1703	L	0.52759	1.655	0.37339	D	0.910325	B;B;B;B	0.22276	0.054;0.067;0.067;0.006	B;B;B;B	0.23150	0.026;0.044;0.044;0.019	T	0.53725	-0.8398	10	0.54805	T	0.06	-16.0321	8.794	0.34868	0.0:0.7734:0.0:0.2266	.	1472;1388;1472;1388	F5H0L1;A8K9U1;B4DYZ0;Q14999	.;.;.;CUL7_HUMAN	K	1388;1472	ENSP00000265348:E1388K;ENSP00000438788:E1472K	ENSP00000265348:E1388K	E	-	1	0	CUL7	43116004	0.959000	0.32827	0.960000	0.40013	0.980000	0.70556	2.110000	0.41873	0.773000	0.33404	0.561000	0.74099	GAA		0.592	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1		NM_014780		32	42	0	0	0	0.008361	0	32	42		
TDRD6	221400	broad.mit.edu	37	6	46656613	46656613	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr6:46656613G>A	ENST00000316081.6	+	1	748	c.748G>A	c.(748-750)Gtg>Atg	p.V250M	RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000434329.2_RNA|TDRD6_ENST00000544460.1_Missense_Mutation_p.V250M|RP11-446F17.3_ENST00000422284.2_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	250					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GCAGCTGGGCGTGACGGAGGC	0.632																																						uc003oyj.2		NaN																	0				breast(3)|ovary(2)|skin(1)	6						c.(748-750)GTG>ATG		tudor domain containing 6							23.0	20.0	21.0					6																	46656613		2200	4296	6496	SO:0001583	missense	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46656613G>A	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.748G>A	6.37:g.46656613G>A	ENSP00000346065:p.Val250Met					TDRD6_uc010jze.2_Missense_Mutation_p.V244M	p.V250M	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	748	+			250					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	c.748G>A	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.172263	0.57584	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.09255	3.0;3.0	6.07	4.21	0.49690	Maternal tudor protein (1);	1.223880	0.05485	N	0.555570	T	0.15046	0.0363	L	0.44542	1.39	0.27893	N	0.939278	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	T	0.24835	-1.0149	10	0.46703	T	0.11	-16.2972	11.6383	0.51217	0.0673:0.1242:0.8085:0.0	.	250;250	F5H5M3;O60522	.;TDRD6_HUMAN	M	250	ENSP00000443299:V250M;ENSP00000346065:V250M	ENSP00000346065:V250M	V	+	1	0	TDRD6	46764572	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	4.958000	0.63660	1.591000	0.50007	-0.126000	0.14955	GTG		0.632	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1		XM_166443		20	22	0	0	0	0.007413	0	20	22		
TDRD6	221400	broad.mit.edu	37	6	46661470	46661470	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr6:46661470C>G	ENST00000316081.6	+	1	5605	c.5605C>G	c.(5605-5607)Cta>Gta	p.L1869V	TDRD6_ENST00000544460.1_Missense_Mutation_p.L1869V	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1869					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AAAAGGGGAGCTAAGCCCGGT	0.478																																						uc003oyj.2		NaN																	0				breast(3)|ovary(2)|skin(1)	6						c.(5605-5607)CTA>GTA		tudor domain containing 6							47.0	52.0	50.0					6																	46661470		2203	4300	6503	SO:0001583	missense	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46661470C>G	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.5605C>G	6.37:g.46661470C>G	ENSP00000346065:p.Leu1869Val					TDRD6_uc010jze.2_Missense_Mutation_p.L1863V	p.L1869V	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	5605	+			1869					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	c.5605C>G	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.269236	0.23221	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.23754	1.89;1.89	5.57	0.521	0.17046	.	0.760107	0.11655	N	0.542470	T	0.09291	0.0229	L	0.56769	1.78	0.09310	N	1	P;P	0.42296	0.775;0.666	B;B	0.39660	0.306;0.162	T	0.16276	-1.0408	10	0.44086	T	0.13	-14.0344	3.7865	0.08703	0.4101:0.3426:0.0:0.2473	.	1869;1869	F5H5M3;O60522	.;TDRD6_HUMAN	V	1869	ENSP00000443299:L1869V;ENSP00000346065:L1869V	ENSP00000346065:L1869V	L	+	1	2	TDRD6	46769429	0.000000	0.05858	0.022000	0.16811	0.008000	0.06430	-0.925000	0.03992	0.259000	0.21709	-0.244000	0.11960	CTA		0.478	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1		XM_166443		8	43	0	0	0	0.00308	0	8	43		
AK9	221264	broad.mit.edu	37	6	109854548	109854548	+	Missense_Mutation	SNP	C	C	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr6:109854548C>A	ENST00000424296.2	-	28	3552	c.3476G>T	c.(3475-3477)cGc>cTc	p.R1159L	AK9_ENST00000355283.1_Missense_Mutation_p.R238L|AK9_ENST00000341338.6_Missense_Mutation_p.R238L	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1159	Adenylate kinase 2.				ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										AGGAAGGAGGCGATCAAAAAT	0.383																																						uc003ptn.2		NaN																	0				ovary(1)	1						c.(3475-3477)CGC>CTC		adenylate kinase domain containing 1 isoform 1							154.0	139.0	144.0					6																	109854548		2203	4300	6503	SO:0001583	missense	221264				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity	g.chr6:109854548C>A	AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.3476G>T	6.37:g.109854548C>A	ENSP00000410186:p.Arg1159Leu					AKD1_uc011eat.1_Missense_Mutation_p.R238L	p.R1159L	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN			28	3553	-			1159					A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	ENST00000424296.2	37	c.3476G>T	CCDS55048.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.5|26.5	4.739351|4.739351	0.89573|0.89573	.|.	.|.	ENSG00000155085|ENSG00000155085	ENST00000491875|ENST00000424296;ENST00000355283;ENST00000341338	.|D;D;D	.|0.86865	.|-2.18;-2.18;-2.18	5.16|5.16	5.16|5.16	0.70880|0.70880	.|ATPase, AAA+ type, core (1);	.|0.106561	.|0.64402	.|D	.|0.000003	D|D	0.93585|0.93585	0.7952|0.7952	M|M	0.85542|0.85542	2.76|2.76	0.42037|0.42037	D|D	0.991053|0.991053	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	D|D	0.93433|0.93433	0.6787|0.6787	5|9	.|.	.|.	.|.	.|.	19.0135|19.0135	0.92884|0.92884	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|238;1159	.|Q5TCS8-5;Q5TCS8	.|.;AKD1_HUMAN	S|L	94|1159;238;238	.|ENSP00000410186:R1159L;ENSP00000347431:R238L;ENSP00000344637:R238L	.|.	A|R	-|-	1|2	0|0	AKD1|AKD1	109961241|109961241	0.997000|0.997000	0.39634|0.39634	0.948000|0.948000	0.38648|0.38648	0.797000|0.797000	0.45037|0.45037	3.813000|3.813000	0.55636|0.55636	2.579000|2.579000	0.87056|0.87056	0.549000|0.549000	0.68633|0.68633	GCC|CGC		0.383	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_001145128		3	15	1	0	0.004672	0.004672	0.00475445	3	15		
CLVS2	134829	broad.mit.edu	37	6	123319132	123319132	+	Silent	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr6:123319132C>G	ENST00000275162.5	+	2	1545	c.210C>G	c.(208-210)cgC>cgG	p.R70R	CLVS2_ENST00000368438.1_Intron	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	70					lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						AGGCCTTCCGCCTCCTGGCGC	0.547																																						uc003pzi.1		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(208-210)CGC>CGG		retinaldehyde binding protein 1-like 2							156.0	134.0	142.0					6																	123319132		2203	4300	6503	SO:0001819	synonymous_variant	134829				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr6:123319132C>G	AK095527	CCDS34525.1	6q22.31	2009-10-14	2009-10-14	2009-10-14	ENSG00000146352	ENSG00000146352			23046	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 212"", ""chromosome 6 open reading frame 213"", ""retinaldehyde binding protein 1-like 2"""	C6orf212, C6orf213, RLBP1L2		19651769	Standard	NM_001010852		Approved	bA160A10.4	uc003pzi.1	Q5SYC1	OTTHUMG00000015495	ENST00000275162.5:c.210C>G	6.37:g.123319132C>G							p.R70R	NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN			2	1079	+			70					B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Silent	SNP	ENST00000275162.5	37	c.210C>G	CCDS34525.1																																																																																				0.547	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042042.2		NM_001010852		28	51	0	0	0	0.013726	0	28	51		
UTRN	7402	broad.mit.edu	37	6	144613024	144613024	+	Silent	SNP	T	T	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr6:144613024T>C	ENST00000367545.3	+	1	60	c.60T>C	c.(58-60)gaT>gaC	p.D20D		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	20	Actin-binding.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AATTCAGTGATATCATTAAGT	0.378																																						uc003qkt.2		NaN																	0				ovary(4)|pancreas(1)	5						c.(58-60)GAT>GAC		utrophin							101.0	89.0	93.0					6																	144613024		2203	4300	6503	SO:0001819	synonymous_variant	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144613024T>C	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.60T>C	6.37:g.144613024T>C						UTRN_uc010khq.1_Silent_p.D20D	p.D20D	NM_007124	NP_009055	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	1	152	+		Ovarian(120;0.218)	20			Actin-binding.		Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP	ENST00000367545.3	37	c.60T>C	CCDS34547.1																																																																																				0.378	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1				19	11	0	0	0	0.010504	0	19	11		
ZBTB2	57621	broad.mit.edu	37	6	151687920	151687920	+	Missense_Mutation	SNP	C	C	T	rs376506691		TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr6:151687920C>T	ENST00000325144.4	-	3	421	c.281G>A	c.(280-282)cGa>cAa	p.R94Q		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	94					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		CTGTTCTAATCGAACCGGGTC	0.537																																						uc003qoh.2		NaN																	0				skin(1)	1						c.(280-282)CGA>CAA		zinc finger and BTB domain containing 2		C	GLN/ARG	0,4406		0,0,2203	122.0	114.0	117.0		281	5.7	0.1	6		117	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZBTB2	NM_020861.1	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	94/515	151687920	1,13005	2203	4300	6503	SO:0001583	missense	57621				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:151687920C>T	BC020172	CCDS5231.1	6q25.1	2013-01-09			ENSG00000181472	ENSG00000181472		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	20868	protein-coding gene	gene with protein product						10819331	Standard	NM_020861		Approved	KIAA1483, ZNF437, bA351K16.2	uc003qoh.3	Q8N680	OTTHUMG00000015834	ENST00000325144.4:c.281G>A	6.37:g.151687920C>T	ENSP00000323183:p.Arg94Gln						p.R94Q	NM_020861	NP_065912	Q8N680	ZBTB2_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)	3	416	-			94					A8K7C7|Q5SZ81|Q9P245	Missense_Mutation	SNP	ENST00000325144.4	37	c.281G>A	CCDS5231.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.897501	0.72639	0.0	1.16E-4	ENSG00000181472	ENST00000325144	T	0.21734	1.99	5.72	5.72	0.89469	BTB/POZ-like (1);BTB/POZ fold (1);	0.000000	0.85682	D	0.000000	T	0.26882	0.0658	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.02179	-1.1200	10	0.36615	T	0.2	-34.6153	19.8968	0.96969	0.0:1.0:0.0:0.0	.	94	Q8N680	ZBTB2_HUMAN	Q	94	ENSP00000323183:R94Q	ENSP00000323183:R94Q	R	-	2	0	ZBTB2	151729613	1.000000	0.71417	0.090000	0.20809	0.360000	0.29518	7.818000	0.86416	2.691000	0.91804	0.655000	0.94253	CGA		0.537	ZBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042715.1		NM_020861		59	18	0	0	0	0.01441	0	59	18		
WTAP	9589	broad.mit.edu	37	6	160169296	160169296	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr6:160169296C>T	ENST00000358372.4	+	6	2104	c.347C>T	c.(346-348)gCg>gTg	p.A116V	SOD2_ENST00000546087.1_Intron|WTAP_ENST00000337387.4_Missense_Mutation_p.A116V	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	116					cell cycle (GO:0007049)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	MIS complex (GO:0036396)|nuclear membrane (GO:0031965)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		GTAGACCCAGCGATCAACTTG	0.443																																						uc003qsl.2		NaN																	0					0						c.(346-348)GCG>GTG		Wilms' tumour 1-associating protein isoform 1							58.0	59.0	59.0					6																	160169296		2203	4296	6499	SO:0001583	missense	9589				cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus		g.chr6:160169296C>T	AJ276706	CCDS5266.1, CCDS5267.1, CCDS75542.1	6q25-q27	2008-02-05			ENSG00000146457	ENSG00000146457			16846	protein-coding gene	gene with protein product		605442				7788527, 11001926	Standard	NM_004906		Approved	KIAA0105, MGC3925	uc003qsl.4	Q15007	OTTHUMG00000015933	ENST00000358372.4:c.347C>T	6.37:g.160169296C>T	ENSP00000351141:p.Ala116Val					WTAP_uc010kjx.2_Missense_Mutation_p.A116V|WTAP_uc003qsk.2_Missense_Mutation_p.A116V|WTAP_uc003qsm.1_RNA|WTAP_uc003qsn.2_Missense_Mutation_p.A116V	p.A116V	NM_004906	NP_004897	Q15007	FL2D_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)	6	569	+		Breast(66;0.000776)|Ovarian(120;0.0303)	116					Q5TCL8|Q5TCL9|Q96T28|Q9BYJ7|Q9H4E2	Missense_Mutation	SNP	ENST00000358372.4	37	c.347C>T	CCDS5266.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.272501	0.59649	.	.	ENSG00000146457	ENST00000358372;ENST00000337387	T;T	0.50001	0.76;0.76	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.37652	0.1011	M	0.72118	2.19	0.80722	D	1	P;P	0.42357	0.777;0.597	B;B	0.31869	0.137;0.071	T	0.53351	-0.8451	10	0.87932	D	0	-9.4632	19.9522	0.97203	0.0:1.0:0.0:0.0	.	116;116	Q15007;Q5TCL9	FL2D_HUMAN;.	V	116	ENSP00000351141:A116V;ENSP00000336911:A116V	ENSP00000336911:A116V	A	+	2	0	WTAP	160089286	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.771000	0.85420	2.725000	0.93324	0.655000	0.94253	GCG		0.443	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042905.1		NM_152857		11	8	0	0	0	0.008291	0	11	8		
TTLL2	83887	broad.mit.edu	37	6	167755014	167755014	+	Silent	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr6:167755014G>C	ENST00000239587.5	+	3	1714	c.1626G>C	c.(1624-1626)ctG>ctC	p.L542L		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	542					cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CGTGTGTCCTGTCAGACCGTG	0.532																																						uc003qvs.1		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1624-1626)CTG>CTC		tubulin tyrosine ligase-like family, member 2							122.0	108.0	113.0					6																	167755014		2203	4300	6503	SO:0001819	synonymous_variant	83887				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr6:167755014G>C	AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"""Tubulin tyrosine ligase-like family"""	21211	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 104"""	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.1626G>C	6.37:g.167755014G>C						TTLL2_uc011egr.1_RNA	p.L542L	NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	3	1714	+		Breast(66;7.8e-06)|Ovarian(120;0.024)	542					B2RB11|B3KS77|Q7Z6R8|Q86X22	Silent	SNP	ENST00000239587.5	37	c.1626G>C	CCDS5301.1																																																																																				0.532	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043127.3		NM_031949		32	14	0	0	0	0.004289	0	32	14		
SMOC2	64094	broad.mit.edu	37	6	169051454	169051454	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr6:169051454C>T	ENST00000356284.2	+	10	1221	c.1001C>T	c.(1000-1002)tCg>tTg	p.S334L	SMOC2_ENST00000354536.5_Missense_Mutation_p.S345L	NM_001166412.1	NP_001159884.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	334					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		CCCTCCTCCTCGTCAGGCAGG	0.557																																						uc003qws.1		NaN																	0				ovary(1)	1						c.(1000-1002)TCG>TTG		SPARC related modular calcium binding 2							44.0	36.0	39.0					6																	169051454		2203	4300	6503	SO:0001583	missense	64094				signal transduction	basement membrane	calcium ion binding	g.chr6:169051454C>T	AB014730	CCDS5307.1, CCDS55076.1	6q27	2013-01-10			ENSG00000112562	ENSG00000112562		"""EF-hand domain containing"""	20323	protein-coding gene	gene with protein product		607223				12031507	Standard	NM_022138		Approved	SMAP2	uc003qwr.2	Q9H3U7	OTTHUMG00000016050	ENST00000356284.2:c.1001C>T	6.37:g.169051454C>T	ENSP00000348630:p.Ser334Leu					SMOC2_uc003qwr.1_Missense_Mutation_p.S345L|SMOC2_uc011egu.1_Missense_Mutation_p.S11L	p.S334L	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)	10	1021	+		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)	334					B3KPS7|Q4G169|Q5TAT7|Q5TAT8|Q86VV9|Q96SF3|Q9H1L3|Q9H1L4|Q9H3U0|Q9H4F7|Q9HCV2	Missense_Mutation	SNP	ENST00000356284.2	37	c.1001C>T	CCDS55076.1	.	.	.	.	.	.	.	.	.	.	C	9.887	1.203210	0.22121	.	.	ENSG00000112562	ENST00000356284;ENST00000354536;ENST00000366793;ENST00000392101;ENST00000538593	T;T	0.37235	1.22;1.21	3.31	3.31	0.37934	SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	0.538595	0.17551	N	0.170190	T	0.10809	0.0264	N	0.14661	0.345	0.09310	N	1	P;P	0.42161	0.746;0.772	B;B	0.39840	0.311;0.115	T	0.09079	-1.0691	10	0.32370	T	0.25	-1.027	13.9391	0.64043	0.0:1.0:0.0:0.0	.	334;345	Q9H3U7;Q9H3U7-2	SMOC2_HUMAN;.	L	334;345;334;11;11	ENSP00000348630:S334L;ENSP00000346537:S345L	ENSP00000346537:S345L	S	+	2	0	SMOC2	168793379	0.066000	0.20996	0.002000	0.10522	0.147000	0.21601	4.040000	0.57333	1.537000	0.49254	0.455000	0.32223	TCG		0.557	SMOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043201.1				8	2	0	0	0	0.00308	0	8	2		
PRKAR1B	5575	broad.mit.edu	37	7	624145	624145	+	Splice_Site	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr7:624145C>G	ENST00000406797.1	-	8	943	c.769G>C	c.(769-771)Gag>Cag	p.E257Q	PRKAR1B_ENST00000537384.1_Splice_Site_p.E257Q|PRKAR1B_ENST00000360274.4_Splice_Site_p.E257Q|PRKAR1B_ENST00000403562.1_Splice_Site_p.E257Q|PRKAR1B_ENST00000544935.1_Splice_Site_p.E257Q	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	257					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		AGCCACTGACCTAGGATGGAG	0.592																																						uc003siu.1		NaN																	0					0						c.(769-771)GAG>CAG		protein kinase, cAMP-dependent, regulatory, type							134.0	95.0	108.0					7																	624145		2202	4295	6497	SO:0001630	splice_region_variant	5575				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity	g.chr7:624145C>G	M65066	CCDS34579.1	7p22.3	2013-09-19			ENSG00000188191	ENSG00000188191	2.7.11.1		9390	protein-coding gene	gene with protein product		176911				1358799, 3479018	Standard	NM_002735		Approved		uc003siw.2	P31321	OTTHUMG00000151411	ENST00000406797.1:c.769+1G>C	7.37:g.624145C>G						PRKAR1B_uc003siv.2_Missense_Mutation_p.E257Q|PRKAR1B_uc003siw.1_Missense_Mutation_p.E257Q|PRKAR1B_uc003six.1_RNA	p.E257Q	NM_002735	NP_002726	P31321	KAP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)	9	875	-		Ovarian(82;0.0779)	257			cAMP 2.		Q8N422	Missense_Mutation	SNP	ENST00000406797.1	37	c.769G>C	CCDS34579.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.81|18.81	3.702984|3.702984	0.68501|0.68501	.|.	.|.	ENSG00000188191|ENSG00000188191	ENST00000537384;ENST00000544935;ENST00000406797;ENST00000403562;ENST00000360274;ENST00000340920;ENST00000430040|ENST00000400758	T;T;T;T;T;T|.	0.75477|.	-0.94;-0.94;-0.94;-0.94;-0.94;1.61|.	4.96|4.96	4.96|4.96	0.65561|0.65561	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|.	0.59293|.	0.2183|.	L|L	0.35644|0.35644	1.08|1.08	0.80722|0.80722	D|D	1|1	B|.	0.09022|.	0.002|.	B|.	0.10450|.	0.005|.	T|.	0.55611|.	-0.8114|.	9|.	.|.	.|.	.|.	-15.7457|-15.7457	17.0165|17.0165	0.86421|0.86421	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	257|.	P31321|.	KAP1_HUMAN|.	Q|Y	257;257;257;257;257;22;257|117	ENSP00000440449:E257Q;ENSP00000444487:E257Q;ENSP00000385749:E257Q;ENSP00000385349:E257Q;ENSP00000353415:E257Q;ENSP00000402648:E257Q|.	.|.	E|X	-|-	1|3	0|2	PRKAR1B|PRKAR1B	590671|590671	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.969000|0.969000	0.65631|0.65631	6.335000|6.335000	0.72949|0.72949	2.296000|2.296000	0.77279|0.77279	0.638000|0.638000	0.83543|0.83543	GAG|TAG		0.592	PRKAR1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322525.1			Missense_Mutation	10	17	0	0	0	0.008291	0	10	17		
IGF2BP3	10643	broad.mit.edu	37	7	23390927	23390927	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr7:23390927G>C	ENST00000258729.3	-	6	1036	c.680C>G	c.(679-681)tCt>tGt	p.S227C	IGF2BP3_ENST00000491719.1_5'Flank	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	227	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation regulator activity (GO:0045182)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						TACTCACTTAGACTGGGTCTG	0.488																																						uc003swg.2		NaN																	0				ovary(2)	2						c.(679-681)TCT>TGT		insulin-like growth factor 2 mRNA binding							115.0	102.0	106.0					7																	23390927		2203	4300	6503	SO:0001583	missense	10643				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr7:23390927G>C	AF117108	CCDS5382.1	7p15.3	2014-02-19			ENSG00000136231	ENSG00000136231		"""RNA binding motif (RRM) containing"""	28868	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 3"", ""cancer/testis antigen 98"""	608259				9891060, 9178771	Standard	NM_006547		Approved	IMP-3, CT98, IMP3	uc003swg.3	O00425	OTTHUMG00000128445	ENST00000258729.3:c.680C>G	7.37:g.23390927G>C	ENSP00000258729:p.Ser227Cys						p.S227C	NM_006547	NP_006538	O00425	IF2B3_HUMAN			6	946	-			227			KH 1.		A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Missense_Mutation	SNP	ENST00000258729.3	37	c.680C>G	CCDS5382.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743908	0.89663	.	.	ENSG00000136231	ENST00000258729	T	0.37752	1.18	5.89	5.89	0.94794	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.39410	0.1077	N	0.26042	0.785	0.80722	D	1	P	0.36587	0.559	P	0.46510	0.519	T	0.03840	-1.0999	10	0.22109	T	0.4	.	20.2566	0.98424	0.0:0.0:1.0:0.0	.	227	O00425	IF2B3_HUMAN	C	227	ENSP00000258729:S227C	ENSP00000258729:S227C	S	-	2	0	IGF2BP3	23357452	1.000000	0.71417	0.997000	0.53966	0.954000	0.61252	7.946000	0.87746	2.793000	0.96121	0.561000	0.74099	TCT		0.488	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250243.2		NM_006547		17	60	0	0	0	0.006122	0	17	60		
OSBPL3	26031	broad.mit.edu	37	7	24911680	24911680	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr7:24911680C>G	ENST00000313367.2	-	3	556	c.105G>C	c.(103-105)tgG>tgC	p.W35C	OSBPL3_ENST00000353930.1_Missense_Mutation_p.W35C|OSBPL3_ENST00000396429.1_Missense_Mutation_p.W35C|OSBPL3_ENST00000396431.1_Missense_Mutation_p.W35C|OSBPL3_ENST00000431825.2_Missense_Mutation_p.W35C|OSBPL3_ENST00000352860.1_Missense_Mutation_p.W35C|OSBPL3_ENST00000409069.1_Missense_Mutation_p.W35C	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	35					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						CCACCACTTCCCAGCTGTCCT	0.403																																						uc003sxf.2		NaN																	0				skin(1)	1						c.(103-105)TGG>TGC		oxysterol-binding protein-like protein 3 isoform							92.0	86.0	88.0					7																	24911680		2203	4300	6503	SO:0001583	missense	26031				lipid transport		lipid binding|protein binding	g.chr7:24911680C>G	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.105G>C	7.37:g.24911680C>G	ENSP00000315410:p.Trp35Cys					OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Missense_Mutation_p.W35C|OSBPL3_uc003sxh.2_Missense_Mutation_p.W35C|OSBPL3_uc003sxi.2_Missense_Mutation_p.W35C	p.W35C	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN			3	510	-			35					A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Missense_Mutation	SNP	ENST00000313367.2	37	c.105G>C	CCDS5390.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.306878	0.81247	.	.	ENSG00000070882	ENST00000313367;ENST00000352860;ENST00000353930;ENST00000431825;ENST00000396431;ENST00000396429;ENST00000409069;ENST00000415162;ENST00000441059;ENST00000415952	T;T;T;T;T;T;T;T;T	0.11930	2.73;2.73;2.73;2.73;2.73;2.73;2.73;2.73;2.73	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.41305	0.1153	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	T	0.07271	-1.0781	10	0.87932	D	0	-1.0196	20.5407	0.99260	0.0:1.0:0.0:0.0	.	35;35;35;35	Q9H4L5-4;Q9H4L5-2;Q9H4L5-3;Q9H4L5	.;.;.;OSBL3_HUMAN	C	35	ENSP00000315410:W35C;ENSP00000315331:W35C;ENSP00000315277:W35C;ENSP00000389779:W35C;ENSP00000379708:W35C;ENSP00000379706:W35C;ENSP00000386953:W35C;ENSP00000407829:W35C;ENSP00000403374:W35C	ENSP00000315410:W35C	W	-	3	0	OSBPL3	24878205	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.380000	0.79704	2.865000	0.98341	0.655000	0.94253	TGG		0.403	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2				12	37	0	0	0	0.003163	0	12	37		
EGFR	1956	broad.mit.edu	37	7	55224469	55224469	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr7:55224469C>G	ENST00000275493.2	+	10	1328	c.1151C>G	c.(1150-1152)aCt>aGt	p.T384S	EGFR_ENST00000420316.2_Missense_Mutation_p.T384S|EGFR_ENST00000454757.2_Missense_Mutation_p.T331S|EGFR_ENST00000455089.1_Missense_Mutation_p.T339S|EGFR_ENST00000344576.2_Missense_Mutation_p.T384S|EGFR_ENST00000342916.3_Missense_Mutation_p.T384S|EGFR_ENST00000442591.1_Missense_Mutation_p.T384S	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	384					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TTCACACATACTCCTCCTCTG	0.373		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		0				lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(1150-1152)ACT>AGT		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						108.0	104.0	105.0					7																	55224469		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55224469C>G		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1151C>G	7.37:g.55224469C>G	ENSP00000275493:p.Thr384Ser	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.2_Missense_Mutation_p.T384S|EGFR_uc003tqi.2_Missense_Mutation_p.T384S|EGFR_uc003tqj.2_Missense_Mutation_p.T384S|EGFR_uc010kzg.1_Missense_Mutation_p.T339S|EGFR_uc011kco.1_Missense_Mutation_p.T331S|EGFR_uc011kcp.1_RNA|EGFR_uc011kcq.1_RNA	p.T384S	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		10	1397	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		384			Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1151C>G	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	9.255	1.041822	0.19748	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.95	5.95	0.96441	EGF receptor, L domain (1);	0.000000	0.85682	D	0.000000	T	0.61652	0.2364	L	0.59912	1.85	0.54753	D	0.999988	P;B;D;P;B	0.71674	0.465;0.189;0.998;0.484;0.262	B;B;D;B;B	0.69824	0.107;0.107;0.966;0.216;0.128	T	0.53906	-0.8372	10	0.34782	T	0.22	.	18.9492	0.92635	0.0:1.0:0.0:0.0	.	339;384;384;384;384	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	S	339;384;254;384;384;384;384;331;178	ENSP00000415559:T339S;ENSP00000342376:T384S;ENSP00000345973:T384S;ENSP00000413843:T384S;ENSP00000275493:T384S;ENSP00000410031:T384S;ENSP00000395243:T331S	ENSP00000275493:T384S	T	+	2	0	EGFR	55191963	0.993000	0.37304	0.101000	0.21167	0.002000	0.02628	3.087000	0.50167	2.825000	0.97269	0.655000	0.94253	ACT		0.373	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2		NM_005228		18	85	0	0	0	0.007413	0	18	85		
LANCL2	55915	broad.mit.edu	37	7	55468950	55468950	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr7:55468950G>C	ENST00000254770.2	+	5	1340	c.762G>C	c.(760-762)tgG>tgC	p.W254C		NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	254					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of abscisic acid-activated signaling pathway (GO:0009789)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|GTP binding (GO:0005525)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			TGTACCAGTGGCACCGGAAGC	0.438																																						uc003tqp.2		NaN																	0				ovary(1)|skin(1)	2						c.(760-762)TGG>TGC		LanC lantibiotic synthetase component C-like 2							133.0	132.0	132.0					7																	55468950		2203	4300	6503	SO:0001583	missense	55915				negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding	g.chr7:55468950G>C	AJ278245	CCDS5517.1	7q31.1-q31.33	2008-07-18	2001-12-04		ENSG00000132434	ENSG00000132434			6509	protein-coding gene	gene with protein product	"""testis-specific adriamycin sensitivity protein"", ""G protein-coupled receptor 69B"""	612919	"""LanC (bacterial lantibiotic synthetase component C)-like 2"""	GPR69B		11762191	Standard	NM_018697		Approved	TASP	uc003tqp.3	Q9NS86	OTTHUMG00000023779	ENST00000254770.2:c.762G>C	7.37:g.55468950G>C	ENSP00000254770:p.Trp254Cys						p.W254C	NM_018697	NP_061167	Q9NS86	LANC2_HUMAN	Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)		5	1340	+	Breast(14;0.0379)		254					B2R8D4|Q6NSL4|Q8TCQ3|Q9BSR1	Missense_Mutation	SNP	ENST00000254770.2	37	c.762G>C	CCDS5517.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.616717	0.87359	.	.	ENSG00000132434	ENST00000254770	T	0.47177	0.85	6.02	6.02	0.97574	Six-hairpin glycosidase-like (1);	0.000000	0.85682	D	0.000000	T	0.73450	0.3588	M	0.85710	2.77	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.74156	-0.3756	10	0.51188	T	0.08	.	19.1045	0.93287	0.0:0.0:1.0:0.0	.	254	Q9NS86	LANC2_HUMAN	C	254	ENSP00000254770:W254C	ENSP00000254770:W254C	W	+	3	0	LANCL2	55436444	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	9.303000	0.96183	2.865000	0.98341	0.655000	0.94253	TGG		0.438	LANCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251459.1		NM_018697		45	55	0	0	0	0.01441	0	45	55		
GNAI1	2770	broad.mit.edu	37	7	79846687	79846687	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr7:79846687G>A	ENST00000351004.3	+	8	1316	c.943G>A	c.(943-945)Gac>Aac	p.D315N	GNAI1_ENST00000457358.2_Missense_Mutation_p.D263N	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	315					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|response to peptide hormone (GO:0043434)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						TAAAAGAAAGGACACAAAGGA	0.348																																						uc003uhb.1		NaN																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(943-945)GAC>AAC		guanine nucleotide binding protein (G protein),							117.0	106.0	110.0					7																	79846687		2203	4299	6502	SO:0001583	missense	2770				cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity	g.chr7:79846687G>A	AL049933	CCDS5595.1, CCDS59061.1	7q21-q22	2008-07-18			ENSG00000127955	ENSG00000127955			4384	protein-coding gene	gene with protein product	"""Gi1 protein alpha subunit"""	139310				3110783	Standard	NM_002069		Approved		uc003uhb.1	P63096	OTTHUMG00000023523	ENST00000351004.3:c.943G>A	7.37:g.79846687G>A	ENSP00000343027:p.Asp315Asn					GNAI1_uc011kgt.1_Missense_Mutation_p.D263N	p.D315N	NM_002069	NP_002060	P63096	GNAI1_HUMAN			8	1280	+			315					A8KA88|B4E2V1|C9J3A4|P04898|P11015|P31871|Q5U074|Q8TAN5|Q9UGA4	Missense_Mutation	SNP	ENST00000351004.3	37	c.943G>A	CCDS5595.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.352496	0.61293	.	.	ENSG00000127955	ENST00000351004;ENST00000457358	D;D	0.88046	-2.33;-2.33	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.82737	0.5102	N	0.25825	0.765	0.80722	D	1	B	0.15930	0.015	B	0.29785	0.107	T	0.75977	-0.3127	9	.	.	.	.	19.6718	0.95914	0.0:0.0:1.0:0.0	.	315	P63096	GNAI1_HUMAN	N	315;263	ENSP00000343027:D315N;ENSP00000410572:D263N	.	D	+	1	0	GNAI1	79684623	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.639000	0.89480	0.557000	0.71058	GAC		0.348	GNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253254.1		NM_002069		12	24	0	0	0	0.013537	0	12	24		
MUC17	140453	broad.mit.edu	37	7	100685857	100685857	+	Silent	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr7:100685857C>G	ENST00000306151.4	+	3	11224	c.11160C>G	c.(11158-11160)gtC>gtG	p.V3720V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3720	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTTCTGTTGTCACCAGCACAC	0.507																																						uc003uxp.1		NaN																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(11158-11160)GTC>GTG		mucin 17 precursor							221.0	202.0	208.0					7																	100685857		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100685857C>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.11160C>G	7.37:g.100685857C>G						MUC17_uc010lho.1_RNA	p.V3720V	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	11213	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3720			Extracellular (Potential).|59.|59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.11160C>G	CCDS34711.1																																																																																				0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1		NM_001040105		80	106	0	0	0	0.01441	0	80	106		
PARP12	64761	broad.mit.edu	37	7	139724424	139724424	+	Missense_Mutation	SNP	G	G	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr7:139724424G>T	ENST00000263549.3	-	12	2915	c.2042C>A	c.(2041-2043)tCc>tAc	p.S681Y		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	681	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					CGAGGGCTTGGAGGAGGTGGT	0.562																																						uc003vvl.1		NaN																	0				ovary(3)	3						c.(2041-2043)TCC>TAC		poly ADP-ribose polymerase 12							162.0	129.0	140.0					7																	139724424		2203	4300	6503	SO:0001583	missense	64761					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding	g.chr7:139724424G>T	AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	21919	protein-coding gene	gene with protein product		612481	"""zinc finger CCCH-type domain containing 1"""	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.2042C>A	7.37:g.139724424G>T	ENSP00000263549:p.Ser681Tyr					PARP12_uc003vvk.1_Missense_Mutation_p.S467Y|PARP12_uc010lnf.1_RNA	p.S681Y	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN			12	2916	-	Melanoma(164;0.0142)		681			PARP catalytic.		Q9H610|Q9NP36|Q9NTI3	Missense_Mutation	SNP	ENST00000263549.3	37	c.2042C>A	CCDS5857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.31|12.31	1.899617|1.899617	0.33535|0.33535	.|.	.|.	ENSG00000059378|ENSG00000059378	ENST00000541746|ENST00000263549	.|T	.|0.07444	.|3.19	4.97|4.97	-2.08|-2.08	0.07254|0.07254	.|Poly(ADP-ribose) polymerase, catalytic domain (1);	.|3.129730	.|0.00892	.|N	.|0.002241	T|T	0.06280|0.06280	0.0162|0.0162	L|L	0.48642|0.48642	1.525|1.525	0.09310|0.09310	N|N	1|1	.|P	.|0.43352	.|0.804	.|B	.|0.27170	.|0.077	T|T	0.36529|0.36529	-0.9744|-0.9744	6|10	0.56958|0.72032	D|D	0.05|0.01	.|.	2.785|2.785	0.05371|0.05371	0.0866:0.287:0.2479:0.3786|0.0866:0.287:0.2479:0.3786	.|.	.|681	.|Q9H0J9	.|PAR12_HUMAN	T|Y	65|681	.|ENSP00000263549:S681Y	ENSP00000445106:P65T|ENSP00000263549:S681Y	P|S	-|-	1|2	0|0	PARP12|PARP12	139370893|139370893	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.049000|0.049000	0.14656|0.14656	0.157000|0.157000	0.16402|0.16402	-0.415000|-0.415000	0.07484|0.07484	0.655000|0.655000	0.94253|0.94253	CCA|TCC		0.562	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348413.1		NM_022750		14	50	1	0	7.93312e-07	0.00245	8.34304e-07	14	50		
TRPV6	55503	broad.mit.edu	37	7	142575431	142575431	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr7:142575431C>T	ENST00000359396.3	-	3	567	c.322G>A	c.(322-324)Gag>Aag	p.E108K	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	108					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GTCATGGGCTCAAAGACCAGC	0.587																																						uc003wbx.1		NaN																	0				ovary(2)	2						c.(322-324)GAG>AAG		transient receptor potential cation channel,							83.0	86.0	85.0					7																	142575431		2203	4300	6503	SO:0001583	missense	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142575431C>T	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.322G>A	7.37:g.142575431C>T	ENSP00000352358:p.Glu108Lys					TRPV6_uc003wbw.1_5'Flank|TRPV6_uc010lou.1_5'UTR	p.E108K	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN			3	538	-	Melanoma(164;0.059)		108			Cytoplasmic (Potential).		A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	c.322G>A	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.509652	0.85282	.	.	ENSG00000165125	ENST00000359396;ENST00000431833	T;T	0.64438	-0.1;-0.1	4.86	4.86	0.63082	Ankyrin repeat-containing domain (4);	0.050050	0.85682	D	0.000000	T	0.55673	0.1935	N	0.10645	0.015	0.53005	D	0.999969	P	0.48694	0.914	P	0.54372	0.75	T	0.58691	-0.7592	10	0.29301	T	0.29	-27.4664	16.9932	0.86359	0.0:1.0:0.0:0.0	.	108	Q9H1D0	TRPV6_HUMAN	K	108;35	ENSP00000352358:E108K;ENSP00000415917:E35K	ENSP00000352358:E108K	E	-	1	0	TRPV6	142285553	1.000000	0.71417	0.946000	0.38457	0.997000	0.91878	4.471000	0.60182	2.240000	0.73641	0.655000	0.94253	GAG		0.587	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1		NM_014274		58	76	0	0	0	0.01441	0	58	76		
OR6B1	135946	broad.mit.edu	37	7	143701527	143701527	+	Silent	SNP	T	T	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr7:143701527T>A	ENST00000408922.2	+	1	506	c.438T>A	c.(436-438)ctT>ctA	p.L146L		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	146						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(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					GCCTCGCTCTTGGTTCCTGGG	0.562																																						uc003wdt.1		NaN																	0				ovary(1)	1						c.(436-438)CTT>CTA		olfactory receptor, family 6, subfamily B,							80.0	81.0	81.0					7																	143701527		2138	4272	6410	SO:0001819	synonymous_variant	135946				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143701527T>A		CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"""GPCR / Class A : Olfactory receptors"""	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.438T>A	7.37:g.143701527T>A							p.L146L	NM_001005281	NP_001005281	O95007	OR6B1_HUMAN			1	438	+	Melanoma(164;0.0783)		146			Helical; Name=4; (Potential).		A4D2G2|B9EH47|Q6IFP6|Q96R38	Silent	SNP	ENST00000408922.2	37	c.438T>A	CCDS43667.1																																																																																				0.562	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349566.1				12	29	0	0	0	0.013537	0	12	29		
MTUS1	57509	broad.mit.edu	37	8	17573306	17573306	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr8:17573306G>C	ENST00000262102.6	-	5	2778	c.2554C>G	c.(2554-2556)Cat>Gat	p.H852D	MTUS1_ENST00000519263.1_Missense_Mutation_p.H798D|MTUS1_ENST00000544260.1_5'UTR|MTUS1_ENST00000381869.3_Missense_Mutation_p.H798D|MTUS1_ENST00000381861.3_Missense_Mutation_p.H99D	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	852					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		AAGTGAACATGAGCCCTGGAT	0.428																																						uc003wxv.2		NaN																	0				ovary(1)|skin(1)	2						c.(2554-2556)CAT>GAT		mitochondrial tumor suppressor 1 isoform 1							174.0	167.0	169.0					8																	17573306		1857	4092	5949	SO:0001583	missense	57509					Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		g.chr8:17573306G>C	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.2554C>G	8.37:g.17573306G>C	ENSP00000262102:p.His852Asp					MTUS1_uc003wxt.2_Missense_Mutation_p.H99D|MTUS1_uc011kyg.1_5'UTR|MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Missense_Mutation_p.H798D	p.H852D	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN		Colorectal(111;0.0778)	5	3028	-			852					A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	ENST00000262102.6	37	c.2554C>G	CCDS43717.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.436209	0.62955	.	.	ENSG00000129422	ENST00000381869;ENST00000381861;ENST00000262102;ENST00000519263	T;T;T;T	0.33216	3.22;2.47;1.42;3.22	4.85	4.85	0.62838	.	0.619891	0.15982	N	0.235236	T	0.45236	0.1332	M	0.63428	1.95	0.80722	D	1	D;D;P	0.57257	0.979;0.979;0.491	P;P;B	0.56434	0.798;0.798;0.108	T	0.21484	-1.0244	10	0.44086	T	0.13	-18.0368	11.8148	0.52204	0.0:0.0:0.7801:0.2199	.	798;852;99	Q9ULD2-2;Q9ULD2;Q9ULD2-6	.;MTUS1_HUMAN;.	D	798;99;852;798	ENSP00000371293:H798D;ENSP00000371285:H99D;ENSP00000262102:H852D;ENSP00000430167:H798D	ENSP00000262102:H852D	H	-	1	0	MTUS1	17617586	1.000000	0.71417	0.871000	0.34182	0.899000	0.52679	3.573000	0.53856	2.623000	0.88846	0.655000	0.94253	CAT		0.428	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1		XM_372031		35	142	0	0	0	0.004289	0	35	142		
FGL1	2267	broad.mit.edu	37	8	17739539	17739539	+	Silent	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr8:17739539G>A	ENST00000398056.2	-	5	1028	c.213C>T	c.(211-213)gtC>gtT	p.V71V	FGL1_ENST00000398054.1_Silent_p.V71V|FGL1_ENST00000381841.2_Silent_p.V71V|FGL1_ENST00000427924.1_Silent_p.V71V|FGL1_ENST00000522444.1_Silent_p.V71V|FGL1_ENST00000381840.2_Silent_p.V71V|FGL1_ENST00000518650.1_Silent_p.V71V|RP11-156K13.2_ENST00000519368.1_RNA			Q08830	FGL1_HUMAN	fibrinogen-like 1	71					adipose tissue development (GO:0060612)|cholesterol metabolic process (GO:0008203)|regulation of glucose metabolic process (GO:0010906)|response to stilbenoid (GO:0035634)	extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		CAAGATCAATGACAGTATTCT	0.438																																						uc003wxx.2		NaN																	0					0						c.(211-213)GTC>GTT		fibrinogen-like 1 precursor							130.0	120.0	123.0					8																	17739539		2203	4300	6503	SO:0001819	synonymous_variant	2267				signal transduction	fibrinogen complex	receptor binding	g.chr8:17739539G>A	D14446	CCDS6004.1	8p22	2013-02-06			ENSG00000104760	ENSG00000104760		"""Fibrinogen C domain containing"""	3695	protein-coding gene	gene with protein product		605776				8390249	Standard	NM_004467		Approved	HFREP-1	uc003wyb.3	Q08830	OTTHUMG00000096989	ENST00000398056.2:c.213C>T	8.37:g.17739539G>A						FGL1_uc003wxy.2_Silent_p.V71V|FGL1_uc003wxz.2_Silent_p.V71V|FGL1_uc003wya.2_Silent_p.V71V|FGL1_uc003wyb.2_Silent_p.V71V|FGL1_uc003wyc.2_Silent_p.V71V|FGL1_uc003wyd.2_RNA|FGL1_uc003wye.2_Silent_p.V121V|FGL1_uc003wyf.2_Silent_p.V41V	p.V71V	NM_201553	NP_963847	Q08830	FGL1_HUMAN		Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)	4	537	-			71					A6NKU4|Q4PJH9|Q53YF1|Q8NG32|Q96KW6|Q96QM6	Silent	SNP	ENST00000398056.2	37	c.213C>T	CCDS6004.1																																																																																				0.438	FGL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375254.1		NM_004467		45	52	0	0	0	0.013114	0	45	52		
FZD3	7976	broad.mit.edu	37	8	28378298	28378298	+	Silent	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr8:28378298G>A	ENST00000240093.3	+	4	811	c.333G>A	c.(331-333)tcG>tcA	p.S111S	FZD3_ENST00000537916.1_Silent_p.S111S	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	111	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in midbrain (GO:0033278)|commissural neuron axon guidance (GO:0071679)|establishment of planar polarity (GO:0001736)|facial nucleus development (GO:0021754)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|post-anal tail morphogenesis (GO:0036342)|vasculature development (GO:0001944)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|neuron projection membrane (GO:0032589)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		GTGAGTGTTCGAAGCTCATGG	0.443																																						uc003xgx.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(331-333)TCG>TCA		frizzled 3 precursor							207.0	194.0	199.0					8																	28378298		2203	4300	6503	SO:0001819	synonymous_variant	7976				canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding	g.chr8:28378298G>A	AJ272427	CCDS6069.1	8p21	2014-06-27	2014-01-29		ENSG00000104290	ENSG00000104290		"""GPCR / Class F : Frizzled receptors"""	4041	protein-coding gene	gene with protein product		606143	"""frizzled (Drosophila) homolog 3"", ""frizzled homolog 3 (Drosophila)"", ""frizzled 3, seven transmembrane spanning receptor"", ""frizzled family receptor 3"""			10777673, 10873558	Standard	NM_145866		Approved		uc010lvb.3	Q9NPG1	OTTHUMG00000102145	ENST00000240093.3:c.333G>A	8.37:g.28378298G>A						FZD3_uc010lvb.2_Silent_p.S111S	p.S111S	NM_017412	NP_059108	Q9NPG1	FZD3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)	4	811	+		Ovarian(32;2.06e-05)	111			FZ.|Extracellular (Potential).		A8K615	Silent	SNP	ENST00000240093.3	37	c.333G>A	CCDS6069.1																																																																																				0.443	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219986.2		NM_145866		36	102	0	0	0	0.003755	0	36	102		
KAT6A	7994	broad.mit.edu	37	8	41792359	41792359	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr8:41792359G>C	ENST00000396930.3	-	18	3922	c.3379C>G	c.(3379-3381)Ctt>Gtt	p.L1127V	KAT6A_ENST00000265713.2_Missense_Mutation_p.L1127V|KAT6A_ENST00000406337.1_Missense_Mutation_p.L1127V	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1127					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										TTTCGCAAAAGAGATACTGGC	0.413																																						uc010lxb.2		NaN																	0				ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(3379-3381)CTT>GTT		MYST histone acetyltransferase (monocytic							176.0	189.0	184.0					8																	41792359		2203	4300	6503	SO:0001583	missense	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41792359G>C	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.3379C>G	8.37:g.41792359G>C	ENSP00000380136:p.Leu1127Val					MYST3_uc010lxc.2_Missense_Mutation_p.L1127V|MYST3_uc003xon.3_Missense_Mutation_p.L1127V	p.L1127V	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)		18	3923	-	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	1127					Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	c.3379C>G	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	G	7.318	0.616337	0.14129	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000418721	T;T;T	0.59502	0.26;0.26;0.26	5.8	2.72	0.32119	.	0.301335	0.28653	N	0.014596	T	0.39572	0.1083	L	0.33485	1.01	0.26519	N	0.974463	B	0.06786	0.001	B	0.06405	0.002	T	0.16453	-1.0402	10	0.29301	T	0.29	-6.0874	5.2338	0.15436	0.0832:0.1083:0.6105:0.198	.	1127	Q92794	KAT6A_HUMAN	V	1127;1127;1127;707	ENSP00000265713:L1127V;ENSP00000385888:L1127V;ENSP00000380136:L1127V	ENSP00000265713:L1127V	L	-	1	0	KAT6A	41911516	0.997000	0.39634	1.000000	0.80357	0.737000	0.42083	0.258000	0.18387	0.794000	0.33899	-0.136000	0.14681	CTT		0.413	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1		NM_006766		51	245	0	0	0	0.01441	0	51	245		
IKBKB	3551	broad.mit.edu	37	8	42174385	42174385	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr8:42174385C>G	ENST00000520810.1	+	11	1274	c.1088C>G	c.(1087-1089)cCc>cGc	p.P363R	IKBKB_ENST00000520835.1_Missense_Mutation_p.P361R|IKBKB_ENST00000416505.2_Missense_Mutation_p.P304R|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000379708.3_Missense_Mutation_p.P140R	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	363					B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)	p.P363R(1)		breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	GCGTTGATCCCCGATAAGCCT	0.577																																						uc003xow.1		NaN																	1	Substitution - Missense(1)		prostate(1)	breast(3)|ovary(2)|lung(1)|skin(1)	7						c.(1087-1089)CCC>CGC		inhibitor of nuclear factor kappa B kinase beta	Arsenic trioxide(DB01169)|Auranofin(DB00995)						79.0	74.0	76.0					8																	42174385		2203	4300	6503	SO:0001583	missense	3551				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity	g.chr8:42174385C>G	AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.1088C>G	8.37:g.42174385C>G	ENSP00000430684:p.Pro363Arg					IKBKB_uc003xov.2_Missense_Mutation_p.P363R|IKBKB_uc010lxh.1_Missense_Mutation_p.P258R|IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_Missense_Mutation_p.P140R|IKBKB_uc003xox.1_Missense_Mutation_p.P84R|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Missense_Mutation_p.P361R|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Missense_Mutation_p.P304R	p.P363R	NM_001556	NP_001547	O14920	IKKB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		11	1265	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	363					B4DZ30|B4E0U4|O75327	Missense_Mutation	SNP	ENST00000520810.1	37	c.1088C>G	CCDS6128.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.149842	0.57151	.	.	ENSG00000104365	ENST00000520810;ENST00000416505;ENST00000520835;ENST00000379708	T;T;T;T	0.60040	0.22;0.22;0.22;0.22	5.46	5.46	0.80206	Ubiquitin supergroup (1);	0.212816	0.49916	D	0.000121	T	0.69223	0.3087	M	0.62723	1.935	0.58432	D	0.999999	P;B;P;B;B;P	0.52692	0.808;0.407;0.679;0.284;0.135;0.955	B;B;B;B;B;P	0.55345	0.28;0.412;0.265;0.126;0.156;0.774	T	0.65635	-0.6120	10	0.33940	T	0.23	.	19.2624	0.93973	0.0:1.0:0.0:0.0	.	304;361;140;314;363;363	B4E0U4;O14920-2;B3KRB7;Q59GL9;O14920;Q32ND9	.;.;.;.;IKKB_HUMAN;.	R	363;304;361;140	ENSP00000430684:P363R;ENSP00000404920:P304R;ENSP00000430868:P361R;ENSP00000369030:P140R	ENSP00000369030:P140R	P	+	2	0	IKBKB	42293542	0.998000	0.40836	0.990000	0.47175	0.032000	0.12392	7.776000	0.85560	2.719000	0.93026	0.650000	0.86243	CCC		0.577	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1				8	38	0	0	0	0.004482	0	8	38		
SPIDR	23514	broad.mit.edu	37	8	48614292	48614292	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr8:48614292C>T	ENST00000297423.4	+	13	2167	c.1783C>T	c.(1783-1785)Cat>Tat	p.H595Y	SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000541342.1_Missense_Mutation_p.H525Y|SPIDR_ENST00000518074.1_Missense_Mutation_p.H535Y|SPIDR_ENST00000517693.1_Missense_Mutation_p.H70Y	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1	Q14159	SPIDR_HUMAN	scaffolding protein involved in DNA repair	595					cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of protein complex assembly (GO:0031334)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of establishment of protein localization to chromosome (GO:0070202)	nuclear chromosome (GO:0000228)											GATAAAAACTCATCTGCCTCC	0.353																																						uc003xqd.2		NaN																	0					0						c.(1783-1785)CAT>TAT		hypothetical protein LOC23514							127.0	120.0	122.0					8																	48614292		1879	4116	5995	SO:0001583	missense	23514							g.chr8:48614292C>T	AK055680	CCDS43737.1, CCDS64890.1, CCDS64891.1	8q11.21	2013-07-02	2013-07-02	2013-07-02	ENSG00000164808	ENSG00000164808			28971	protein-coding gene	gene with protein product		615384	"""KIAA0146"""	KIAA0146		8590280, 23509288	Standard	XM_005251189		Approved		uc003xqd.3	Q14159	OTTHUMG00000164176	ENST00000297423.4:c.1783C>T	8.37:g.48614292C>T	ENSP00000297423:p.His595Tyr					KIAA0146_uc011ldb.1_Missense_Mutation_p.H595Y|KIAA0146_uc010lxs.2_Missense_Mutation_p.H70Y|KIAA0146_uc011ldc.1_Missense_Mutation_p.H525Y|KIAA0146_uc011ldd.1_Missense_Mutation_p.H535Y|KIAA0146_uc003xqe.2_Missense_Mutation_p.H70Y|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc011lde.1_Missense_Mutation_p.H284Y|KIAA0146_uc010lxt.2_Missense_Mutation_p.H284Y|KIAA0146_uc011ldf.1_Missense_Mutation_p.H100Y|KIAA0146_uc011ldg.1_Missense_Mutation_p.H85Y|KIAA0146_uc010lxv.1_Missense_Mutation_p.H89Y	p.H595Y	NM_001080394	NP_001073863	Q14159	K0146_HUMAN			13	1792	+		Lung NSC(58;0.175)	595					B4DFV2|B4E0Y6|Q96BI5	Missense_Mutation	SNP	ENST00000297423.4	37	c.1783C>T	CCDS43737.1	.	.	.	.	.	.	.	.	.	.	C	0.278	-0.988230	0.02162	.	.	ENSG00000164808	ENST00000297423;ENST00000518074;ENST00000541342;ENST00000519141;ENST00000517693;ENST00000519362	.	.	.	5.4	0.0991	0.14501	.	0.536026	0.20846	N	0.084612	T	0.11879	0.0289	N	0.17474	0.49	0.09310	N	1	B;B;B;B;B;B;B;B	0.33044	0.003;0.003;0.031;0.047;0.007;0.009;0.003;0.395	B;B;B;B;B;B;B;B	0.26310	0.003;0.003;0.008;0.038;0.008;0.007;0.003;0.068	T	0.16247	-1.0409	9	0.20519	T	0.43	.	3.3752	0.07234	0.2874:0.3535:0.2779:0.0811	.	85;100;535;525;595;284;70;595	B4DZY2;B4DWT8;B4E0Y6;B4DFV2;B4DEV5;B4DFT3;B3KP42;Q14159	.;.;.;.;.;.;.;K0146_HUMAN	Y	595;535;525;100;70;70	.	ENSP00000297423:H595Y	H	+	1	0	KIAA0146	48776845	0.000000	0.05858	0.038000	0.18304	0.922000	0.55478	0.105000	0.15333	0.263000	0.21812	0.650000	0.86243	CAT		0.353	SPIDR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377611.1		NM_001080394		74	108	0	0	0	0.01441	0	74	108		
MCM4	4173	broad.mit.edu	37	8	48875509	48875509	+	Missense_Mutation	SNP	A	A	G	rs562067900		TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr8:48875509A>G	ENST00000262105.2	+	6	811	c.602A>G	c.(601-603)aAt>aGt	p.N201S	PRKDC_ENST00000338368.3_5'Flank|PRKDC_ENST00000523565.1_5'Flank|PRKDC_ENST00000314191.2_5'Flank|MCM4_ENST00000523944.1_Missense_Mutation_p.N201S	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	201					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				TTCTAGATTAATGTTATTGGT	0.284																																						uc003xqk.1		NaN																	0				ovary(2)|skin(2)	4						c.(601-603)AAT>AGT		minichromosome maintenance complex component 4							56.0	60.0	58.0					8																	48875509		2202	4296	6498	SO:0001583	missense	4173				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr8:48875509A>G		CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"""MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"""	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.602A>G	8.37:g.48875509A>G	ENSP00000262105:p.Asn201Ser					PRKDC_uc003xqi.2_5'Flank|PRKDC_uc003xqj.2_5'Flank|PRKDC_uc011ldh.1_5'Flank|MCM4_uc003xql.1_Missense_Mutation_p.N201S|MCM4_uc011ldi.1_Missense_Mutation_p.N188S|MCM4_uc010lxw.1_RNA	p.N201S	NM_182746	NP_877423	P33991	MCM4_HUMAN			7	697	+		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)	201					Q8NEH1|Q99658	Missense_Mutation	SNP	ENST00000262105.2	37	c.602A>G	CCDS6143.1	.	.	.	.	.	.	.	.	.	.	A	6.709	0.499486	0.12762	.	.	ENSG00000104738	ENST00000523944;ENST00000262105;ENST00000396826;ENST00000429229;ENST00000519170	T;T;T	0.10960	2.82;2.82;2.82	5.64	5.64	0.86602	Nucleic acid-binding, OB-fold-like (1);	0.039773	0.85682	D	0.000000	T	0.08133	0.0203	N	0.16478	0.41	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.11329	0.006;0.006	T	0.32534	-0.9903	10	0.19590	T	0.45	-37.1546	15.8639	0.79047	1.0:0.0:0.0:0.0	.	201;201	B3KMX0;P33991	.;MCM4_HUMAN	S	201;201;188;161;151	ENSP00000430194:N201S;ENSP00000262105:N201S;ENSP00000428833:N151S	ENSP00000262105:N201S	N	+	2	0	MCM4	49038062	1.000000	0.71417	1.000000	0.80357	0.367000	0.29736	6.469000	0.73555	2.161000	0.67846	0.379000	0.24179	AAT		0.284	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377791.1		NM_005914		34	33	0	0	0	0.010818	0	34	33		
FER1L6	654463	broad.mit.edu	37	8	125015463	125015463	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr8:125015463G>A	ENST00000522917.1	+	13	1782	c.1576G>A	c.(1576-1578)Gaa>Aaa	p.E526K	FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.E526K	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	526						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GAAGTCAGCTGAATCAGCTGA	0.522																																						uc003yqw.2		NaN																	0				ovary(5)|skin(5)|central_nervous_system(1)	11						c.(1576-1578)GAA>AAA		fer-1-like 6							94.0	90.0	91.0					8																	125015463		1963	4141	6104	SO:0001583	missense	654463					integral to membrane		g.chr8:125015463G>A	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.1576G>A	8.37:g.125015463G>A	ENSP00000428280:p.Glu526Lys					uc003yqx.1_Intron	p.E526K	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		13	1782	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		526			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000522917.1	37	c.1576G>A	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	9.318	1.057335	0.19907	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.82081	-1.57;-1.57	5.73	5.73	0.89815	.	11.695100	0.01480	U	0.016629	D	0.83156	0.5193	L	0.48642	1.525	0.47659	D	0.999481	B	0.24823	0.112	B	0.21151	0.033	T	0.51748	-0.8666	10	0.17832	T	0.49	.	19.4953	0.95070	0.0:0.0:1.0:0.0	.	526	Q2WGJ9	FR1L6_HUMAN	K	526	ENSP00000428280:E526K;ENSP00000381982:E526K	ENSP00000381982:E526K	E	+	1	0	FER1L6	125084644	1.000000	0.71417	0.084000	0.20598	0.022000	0.10575	6.690000	0.74567	2.709000	0.92574	0.655000	0.94253	GAA		0.522	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1		NM_001039112		22	41	0	0	0	0.00333	0	22	41		
FER1L6	654463	broad.mit.edu	37	8	125015577	125015577	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr8:125015577G>C	ENST00000522917.1	+	13	1896	c.1690G>C	c.(1690-1692)Gaa>Caa	p.E564Q	FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.E564Q	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	564						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ACTGGTGACAGAAGGGAACAG	0.507																																						uc003yqw.2		NaN																	0				ovary(5)|skin(5)|central_nervous_system(1)	11						c.(1690-1692)GAA>CAA		fer-1-like 6							39.0	38.0	38.0					8																	125015577		1908	4131	6039	SO:0001583	missense	654463					integral to membrane		g.chr8:125015577G>C	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.1690G>C	8.37:g.125015577G>C	ENSP00000428280:p.Glu564Gln					uc003yqx.1_Intron	p.E564Q	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		13	1896	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		564			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000522917.1	37	c.1690G>C	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.003123	0.54254	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.81908	-1.55;-1.55	5.73	5.73	0.89815	.	0.572045	0.16459	U	0.213516	D	0.82710	0.5096	L	0.43152	1.355	0.39526	D	0.968591	P	0.43938	0.822	B	0.43809	0.432	D	0.84925	0.0856	10	0.87932	D	0	.	19.4953	0.95070	0.0:0.0:1.0:0.0	.	564	Q2WGJ9	FR1L6_HUMAN	Q	564	ENSP00000428280:E564Q;ENSP00000381982:E564Q	ENSP00000381982:E564Q	E	+	1	0	FER1L6	125084758	1.000000	0.71417	1.000000	0.80357	0.360000	0.29518	6.690000	0.74567	2.709000	0.92574	0.655000	0.94253	GAA		0.507	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1		NM_001039112		2	16	0	0	0	0.009096	0	2	16		
TSTA3	7264	broad.mit.edu	37	8	144696593	144696593	+	Missense_Mutation	SNP	G	G	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr8:144696593G>T	ENST00000425753.2	-	6	598	c.495C>A	c.(493-495)ttC>ttA	p.F165L	TSTA3_ENST00000529064.1_Missense_Mutation_p.F165L	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	165					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|cytolysis (GO:0019835)|GDP-mannose metabolic process (GO:0019673)|leukocyte cell-cell adhesion (GO:0007159)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	coenzyme binding (GO:0050662)|electron carrier activity (GO:0009055)|GDP-4-dehydro-D-rhamnose reductase activity (GO:0042356)|GDP-L-fucose synthase activity (GO:0050577)|isomerase activity (GO:0016853)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			TGACAGCGGTGAAGGTGCAGC	0.662																																						uc003yza.2		NaN																	0				pancreas(1)	1						c.(493-495)TTC>TTA		tissue specific transplantation antigen P35B	NADH(DB00157)						127.0	116.0	120.0					8																	144696593		2202	4300	6502	SO:0001583	missense	7264				'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity	g.chr8:144696593G>T	U58766	CCDS6408.1	8q24.3	2012-02-22			ENSG00000104522	ENSG00000104522	1.1.1.271	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	12390	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 4E, member 1"", ""GDP-L-fucose synthase"""	137020				7803801, 1348494, 19027726	Standard	NM_003313		Approved	FX, P35B, SDR4E1	uc003yzb.2	Q13630	OTTHUMG00000165159	ENST00000425753.2:c.495C>A	8.37:g.144696593G>T	ENSP00000398803:p.Phe165Leu					TSTA3_uc003yzb.2_Missense_Mutation_p.F165L	p.F165L	NM_003313	NP_003304	Q13630	FCL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		6	531	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		165					B2R8Y7|D3DWK5|Q567Q9|Q9UDG7	Missense_Mutation	SNP	ENST00000425753.2	37	c.495C>A	CCDS6408.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.723592	0.89298	.	.	ENSG00000104522	ENST00000529064;ENST00000425753;ENST00000529048;ENST00000533817	D;D;D;D	0.93366	-3.21;-3.21;-3.21;-3.21	4.85	3.97	0.46021	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.050426	0.85682	D	0.000000	D	0.97353	0.9134	H	0.97340	3.985	0.45733	D	0.998634	P	0.49559	0.925	P	0.59012	0.85	D	0.97546	1.0089	10	0.72032	D	0.01	-22.1859	11.9786	0.53107	0.0859:0.0:0.9141:0.0	.	165	Q13630	FCL_HUMAN	L	165	ENSP00000435386:F165L;ENSP00000398803:F165L;ENSP00000431587:F165L;ENSP00000437012:F165L	ENSP00000398803:F165L	F	-	3	2	TSTA3	144767736	1.000000	0.71417	0.979000	0.43373	0.986000	0.74619	3.938000	0.56583	1.033000	0.39918	0.591000	0.81541	TTC		0.662	TSTA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382263.1		NM_003313		5	53	1	0	0.00116845	0.001168	0.00119965	5	53		
MUSK	4593	broad.mit.edu	37	9	113496648	113496648	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr9:113496648G>A	ENST00000374448.4	+	6	880	c.746G>A	c.(745-747)gGa>gAa	p.G249E	MUSK_ENST00000416899.2_Missense_Mutation_p.G249E|MUSK_ENST00000189978.5_Missense_Mutation_p.G249E	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	249	Ig-like 3.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						ATTGAAAACGGAAATGCTGTG	0.507																																						uc004bey.2		NaN																	0				lung(3)|ovary(2)|central_nervous_system(1)	6						c.(745-747)GGA>GAA		skeletal muscle receptor tyrosine kinase							145.0	133.0	137.0					9																	113496648		2063	4219	6282	SO:0001583	missense	4593				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:113496648G>A	AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.746G>A	9.37:g.113496648G>A	ENSP00000363571:p.Gly249Glu					MUSK_uc004bex.2_Missense_Mutation_p.G259E	p.G249E	NM_005592	NP_005583	O15146	MUSK_HUMAN			6	844	+			249			Ig-like 3.|Extracellular (Potential).		Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	ENST00000374448.4	37	c.746G>A	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.418101	0.83449	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000416899	T	0.41400	1.0	5.18	5.18	0.71444	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.68760	0.3036	M	0.84846	2.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.73736	-0.3889	10	0.66056	D	0.02	.	16.5633	0.84572	0.0:0.0:1.0:0.0	.	249;259	O15146;F5H6T2	MUSK_HUMAN;.	E	249;249;249;259;259;249	ENSP00000363571:G249E	ENSP00000189978:G249E	G	+	2	0	MUSK	112536469	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.064000	0.76721	2.576000	0.86940	0.655000	0.94253	GGA		0.507	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding					20	4	0	0	0	0.010504	0	20	4		
PRPF4	9128	broad.mit.edu	37	9	116053237	116053237	+	Missense_Mutation	SNP	G	G	T	rs202224947		TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr9:116053237G>T	ENST00000374198.4	+	13	1418	c.1316G>T	c.(1315-1317)cGg>cTg	p.R439L	PRPF4_ENST00000374199.4_Missense_Mutation_p.R438L	NM_001244926.1|NM_004697.4	NP_001231855.1|NP_004688.2	O43172	PRP4_HUMAN	pre-mRNA processing factor 4	439					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 snRNP (GO:0071001)				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						CTCCGACAGCGGCGTTGCGTC	0.468																																						uc004bgx.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(1315-1317)CGG>CTG		PRP4 pre-mRNA processing factor 4 homolog							185.0	151.0	162.0					9																	116053237		2203	4300	6503	SO:0001583	missense	9128					Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding	g.chr9:116053237G>T	AF001687	CCDS6791.1, CCDS59142.1	9q31-q33	2013-10-03	2013-10-03		ENSG00000136875	ENSG00000136875		"""WD repeat domain containing"""	17349	protein-coding gene	gene with protein product	"""PRP4/STK/WD splicing factor"", ""U4/U6 small nuclear ribonucleoprotein Prp4"""	607795	"""PRP4 pre-mRNA processing factor 4 homolog (yeast)"""			9257651, 9404889	Standard	NM_004697		Approved	Prp4p, HPRP4, HPRP4P, PRP4, SNRNP60	uc004bgx.3	O43172	OTTHUMG00000020517	ENST00000374198.4:c.1316G>T	9.37:g.116053237G>T	ENSP00000363313:p.Arg439Leu					PRPF4_uc004bgy.2_Missense_Mutation_p.R438L	p.R439L	NM_004697	NP_004688	O43172	PRP4_HUMAN			13	1366	+			439			WD 5.		O43445|O43864|Q5T1M8|Q96DG2|Q96IK4	Missense_Mutation	SNP	ENST00000374198.4	37	c.1316G>T	CCDS6791.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.347093	0.61183	.	.	ENSG00000136875	ENST00000374199;ENST00000374198	T;T	0.80123	-1.34;-1.34	5.67	5.67	0.87782	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	D	0.87107	0.6095	L	0.53617	1.68	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.74674	0.976;0.984	D	0.85670	0.1294	10	0.39692	T	0.17	.	16.9422	0.86221	0.0:0.0:1.0:0.0	.	454;439	Q59EL4;O43172	.;PRP4_HUMAN	L	438;439	ENSP00000363315:R438L;ENSP00000363313:R439L	ENSP00000363313:R439L	R	+	2	0	PRPF4	115093058	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.015000	0.93640	2.665000	0.90641	0.655000	0.94253	CGG		0.468	PRPF4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053708.2		NM_004697		40	15	1	0	1.49673e-21	0.00623	1.68139e-21	40	15		
MXRA5	25878	broad.mit.edu	37	X	3229321	3229321	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chrX:3229321G>A	ENST00000217939.6	-	7	7077	c.6923C>T	c.(6922-6924)aCa>aTa	p.T2308I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2308	Ig-like C2-type 7.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AAAGTAGAGTGTCCCATTGTT	0.537																																						uc004crg.3		NaN																	0				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(6922-6924)ACA>ATA		adlican precursor							168.0	131.0	144.0					X																	3229321		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3229321G>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.6923C>T	X.37:g.3229321G>A	ENSP00000217939:p.Thr2308Ile						p.T2308I	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			7	7080	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2308			Ig-like C2-type 7.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.6923C>T	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.619230	0.46736	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.70869	-0.52	4.16	4.16	0.48862	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.39146	U	0.001441	D	0.84763	0.5544	M	0.83012	2.62	0.54753	D	0.999982	D	0.89917	1.0	D	0.91635	0.999	D	0.87282	0.2293	10	0.56958	D	0.05	.	16.1055	0.81216	0.0:0.0:1.0:0.0	.	2308	Q9NR99	MXRA5_HUMAN	I	2308	ENSP00000217939:T2308I	ENSP00000217939:T2308I	T	-	2	0	MXRA5	3239321	1.000000	0.71417	0.012000	0.15200	0.109000	0.19521	8.370000	0.90120	1.701000	0.51217	0.509000	0.49947	ACA		0.537	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2		NM_015419		60	82	0	0	0	0.01441	0	60	82		
MXRA5	25878	broad.mit.edu	37	X	3239768	3239768	+	Missense_Mutation	SNP	T	T	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chrX:3239768T>A	ENST00000217939.6	-	5	4112	c.3958A>T	c.(3958-3960)Aca>Tca	p.T1320S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1320						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCATCTGATGTGGGTTTATAT	0.363																																						uc004crg.3		NaN																	0				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(3958-3960)ACA>TCA		adlican precursor							152.0	136.0	141.0					X																	3239768		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3239768T>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.3958A>T	X.37:g.3239768T>A	ENSP00000217939:p.Thr1320Ser						p.T1320S	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			5	4115	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1320					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.3958A>T	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	t	0.422	-0.907648	0.02434	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.62232	0.04	3.41	-0.428	0.12306	.	1.616020	0.04767	U	0.427404	T	0.41743	0.1172	N	0.14661	0.345	0.09310	N	1	B	0.16396	0.017	B	0.12156	0.007	T	0.17776	-1.0358	10	0.28530	T	0.3	.	4.7799	0.13197	0.1821:0.5724:0.0:0.2455	.	1320	Q9NR99	MXRA5_HUMAN	S	1320	ENSP00000217939:T1320S	ENSP00000217939:T1320S	T	-	1	0	MXRA5	3249768	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.166000	0.03129	-0.060000	0.13132	-0.509000	0.04479	ACA		0.363	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2		NM_015419		26	131	0	0	0	0.004656	0	26	131		
TLR7	51284	broad.mit.edu	37	X	12904760	12904760	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chrX:12904760G>C	ENST00000380659.3	+	3	1272	c.1133G>C	c.(1132-1134)aGa>aCa	p.R378T		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	378					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	CTGCGGATCAGAGGATATGTC	0.338																																						uc004cvc.2		NaN																	0				ovary(2)|lung(2)|breast(1)	5						c.(1132-1134)AGA>ACA		toll-like receptor 7 precursor	Imiquimod(DB00724)						65.0	70.0	68.0					X																	12904760		2203	4299	6502	SO:0001583	missense	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12904760G>C	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.1133G>C	X.37:g.12904760G>C	ENSP00000370034:p.Arg378Thr						p.R378T	NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN			3	1272	+			378			Extracellular (Potential).|LRR 13.		D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	37	c.1133G>C	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	G	6.692	0.496335	0.12762	.	.	ENSG00000196664	ENST00000380659	T	0.34275	1.37	5.79	-0.673	0.11373	.	0.323922	0.31542	N	0.007463	T	0.30792	0.0776	L	0.45581	1.43	0.31816	N	0.626607	B	0.30973	0.302	B	0.34038	0.174	T	0.38394	-0.9663	10	0.72032	D	0.01	.	11.7321	0.51744	0.4688:0.0:0.5312:0.0	.	378	Q9NYK1	TLR7_HUMAN	T	378	ENSP00000370034:R378T	ENSP00000370034:R378T	R	+	2	0	TLR7	12814681	1.000000	0.71417	0.466000	0.27168	0.021000	0.10359	1.044000	0.30329	-0.235000	0.09767	-0.881000	0.02953	AGA		0.338	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1		NM_016562		14	83	0	0	0	0.001855	0	14	83		
TLR7	51284	broad.mit.edu	37	X	12905270	12905270	+	Missense_Mutation	SNP	A	A	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chrX:12905270A>T	ENST00000380659.3	+	3	1782	c.1643A>T	c.(1642-1644)gAc>gTc	p.D548V		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	548					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	AGATATTTGGACTTCTCCAAC	0.388																																						uc004cvc.2		NaN																	0				ovary(2)|lung(2)|breast(1)	5						c.(1642-1644)GAC>GTC		toll-like receptor 7 precursor	Imiquimod(DB00724)						192.0	203.0	199.0					X																	12905270		2203	4299	6502	SO:0001583	missense	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12905270A>T	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.1643A>T	X.37:g.12905270A>T	ENSP00000370034:p.Asp548Val						p.D548V	NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN			3	1782	+			548			Extracellular (Potential).|LRR 18.		D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	37	c.1643A>T	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	A	17.15	3.316607	0.60524	.	.	ENSG00000196664	ENST00000380659	T	0.60040	0.22	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.78811	0.4342	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82608	-0.0373	10	0.87932	D	0	.	15.1934	0.73063	1.0:0.0:0.0:0.0	.	548	Q9NYK1	TLR7_HUMAN	V	548	ENSP00000370034:D548V	ENSP00000370034:D548V	D	+	2	0	TLR7	12815191	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	9.283000	0.95860	1.971000	0.57363	0.486000	0.48141	GAC		0.388	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1		NM_016562		98	174	0	0	0	0.01441	0	98	174		
PIR	8544	broad.mit.edu	37	X	15509315	15509315	+	Silent	SNP	C	C	T	rs370522973		TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chrX:15509315C>T	ENST00000380421.3	-	2	526	c.66G>A	c.(64-66)gcG>gcA	p.A22A	PIR_ENST00000476381.1_5'UTR|PIR_ENST00000380420.5_Silent_p.A22A|BMX_ENST00000357607.2_Intron	NM_001018109.2|NM_003662.3	NP_001018119.1|NP_003653.1	O00625	PIR_HUMAN	pirin (iron-binding nuclear protein)	22					monocyte differentiation (GO:0030224)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|quercetin 2,3-dioxygenase activity (GO:0008127)|transcription cofactor activity (GO:0003712)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9	Hepatocellular(33;0.183)					TCCGGACCCTCGCTCCAACCC	0.522																																					Ovarian(180;1587 2015 10555 34192 51653)	uc004cwu.2		NaN																	0				ovary(1)	1						c.(64-66)GCG>GCA		pirin		C	,	1,3834		0,0,1,1632,570	159.0	144.0	149.0		66,66	-11.1	0.0	X		149	0,6728		0,0,0,2428,1872	no	coding-synonymous,coding-synonymous	PIR	NM_001018109.2,NM_003662.3	,	0,0,1,4060,2442	TT,TC,T,CC,C		0.0,0.0261,0.0095	,	22/291,22/291	15509315	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	8544				transcription from RNA polymerase II promoter	cytoplasm|nucleus	metal ion binding|protein binding|quercetin 2,3-dioxygenase activity|transcription cofactor activity	g.chrX:15509315C>T	Y07868	CCDS14167.1	Xp22.31	2008-02-05			ENSG00000087842	ENSG00000087842			30048	protein-coding gene	gene with protein product		300931				9079676	Standard	NM_003662		Approved		uc004cwv.3	O00625	OTTHUMG00000021176	ENST00000380421.3:c.66G>A	X.37:g.15509315C>T						PIR_uc004cwv.2_Silent_p.A22A|BMX_uc004cww.2_Intron	p.A22A	NM_003662	NP_003653	O00625	PIR_HUMAN			2	304	-	Hepatocellular(33;0.183)		22					Q5U0G0|Q6FHD2	Silent	SNP	ENST00000380421.3	37	c.66G>A	CCDS14167.1																																																																																				0.522	PIR-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055863.1		NM_003662		93	117	0	0	0	0.01441	0	93	117		
ZRSR2	8233	broad.mit.edu	37	X	15821884	15821884	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chrX:15821884G>A	ENST00000307771.7	+	4	301	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K	ZRSR2_ENST00000468028.1_3'UTR	NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2	93					mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|pre-mRNA 3'-splice site binding (GO:0030628)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					GAAGGAAAAGGAAGAGGCGGC	0.378			"""F, S, Mis"""		"""MDS, CLL"""																																NSCLC(197;1631 3042 5741 31152)	uc004cxg.3		NaN		Rec	yes		X	Xp22.1	8233		"""zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2"""			L					0				breast(3)	3						c.(277-279)GAA>AAA		U2 small nuclear RNA auxiliary factor 1-like 2							84.0	65.0	71.0					X																	15821884		2203	4300	6503	SO:0001583	missense	8233				spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding	g.chrX:15821884G>A	BC050451	CCDS14172.1	Xp22.1	2014-09-17	2006-09-26	2006-09-26	ENSG00000169249	ENSG00000169249		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	23019	protein-coding gene	gene with protein product		300028	"""U2(RNU2) small nuclear RNA auxiliary factor 1-like 2"", ""U2 small nuclear RNA auxiliary factor 1-like 2"""	U2AF1L2		8586425, 9237760, 15146077	Standard	NM_005089		Approved	U2AF1-RS2, URP	uc004cxg.4	Q15696	OTTHUMG00000021184	ENST00000307771.7:c.277G>A	X.37:g.15821884G>A	ENSP00000303015:p.Glu93Lys						p.E93K	NM_005089	NP_005080	Q15696	U2AFM_HUMAN			4	322	+	Hepatocellular(33;0.183)		93					Q14D69	Missense_Mutation	SNP	ENST00000307771.7	37	c.277G>A	CCDS14172.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.197698	0.79015	.	.	ENSG00000169249	ENST00000307771	T	0.22134	1.97	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.26340	0.0643	M	0.83012	2.62	0.80722	D	1	P	0.46784	0.884	B	0.34824	0.19	T	0.31280	-0.9949	10	0.20046	T	0.44	.	17.631	0.88108	0.0:0.0:1.0:0.0	.	93	Q15696	U2AFM_HUMAN	K	93	ENSP00000303015:E93K	ENSP00000303015:E93K	E	+	1	0	ZRSR2	15731805	1.000000	0.71417	0.997000	0.53966	0.939000	0.58152	7.334000	0.79224	2.281000	0.76405	0.600000	0.82982	GAA		0.378	ZRSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055889.1		NM_005089		4	13	0	0	0	0.009096	0	4	13		
CDKL5	6792	broad.mit.edu	37	X	18643279	18643279	+	Missense_Mutation	SNP	C	C	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chrX:18643279C>A	ENST00000379989.3	+	18	2693	c.2408C>A	c.(2407-2409)aCg>aAg	p.T803K	CDKL5_ENST00000379996.3_Missense_Mutation_p.T803K	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	803					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					GATCTTCTGACGTTGCAGAAA	0.483																																						uc004cym.2		NaN																	0				ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6						c.(2407-2409)ACG>AAG		cyclin-dependent kinase-like 5							149.0	131.0	137.0					X																	18643279		2203	4300	6503	SO:0001583	missense	6792				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	g.chrX:18643279C>A	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.2408C>A	X.37:g.18643279C>A	ENSP00000369325:p.Thr803Lys					CDKL5_uc004cyn.2_Missense_Mutation_p.T803K	p.T803K	NM_003159	NP_003150	O76039	CDKL5_HUMAN			17	2661	+	Hepatocellular(33;0.183)		803					G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	c.2408C>A	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.475316	0.63737	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.69435	-0.4;-0.4	6.03	6.03	0.97812	.	0.213790	0.48286	D	0.000192	T	0.51058	0.1652	N	0.14661	0.345	0.33002	D	0.526423	P	0.44090	0.826	B	0.35039	0.194	T	0.66642	-0.5872	10	0.87932	D	0	-20.6695	19.4644	0.94932	0.0:1.0:0.0:0.0	.	803	O76039	CDKL5_HUMAN	K	803	ENSP00000369332:T803K;ENSP00000369325:T803K	ENSP00000369325:T803K	T	+	2	0	CDKL5	18553200	1.000000	0.71417	0.927000	0.36925	0.877000	0.50540	5.359000	0.66074	2.551000	0.86045	0.600000	0.82982	ACG		0.483	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2		NM_003159		62	84	1	0	6.25564e-26	0.01441	7.16706e-26	62	84		
RPS6KA3	6197	broad.mit.edu	37	X	20205975	20205975	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chrX:20205975C>T	ENST00000379565.3	-	9	952	c.745G>A	c.(745-747)Gct>Act	p.A249T	RPS6KA3_ENST00000540702.1_Missense_Mutation_p.A221T|RPS6KA3_ENST00000544447.1_Missense_Mutation_p.A221T|RPS6KA3_ENST00000379548.4_Missense_Mutation_p.A220T	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	249	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|central nervous system development (GO:0007417)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41					Acetylsalicylic acid(DB00945)	CACCAGTCAGCACTCTGAGTA	0.393																																						uc004czu.2		NaN																	0				central_nervous_system(4)|stomach(1)|ovary(1)|lung(1)|breast(1)	8						c.(745-747)GCT>ACT		ribosomal protein S6 kinase, 90kDa, polypeptide							188.0	175.0	180.0					X																	20205975		2203	4300	6503	SO:0001583	missense	6197				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:20205975C>T	U08316	CCDS14197.1	Xp22.2-p22.1	2013-06-03	2002-08-29		ENSG00000177189	ENSG00000177189			10432	protein-coding gene	gene with protein product		300075	"""ribosomal protein S6 kinase, 90kD, polypeptide 3"", ""mental retardation, X-linked 19"", ""Coffin-Lowry syndrome"""	MRX19, CLS		8141249, 11896450, 16879200	Standard	XM_005274573		Approved	RSK, RSK2, HU-3	uc004czu.3	P51812	OTTHUMG00000021231	ENST00000379565.3:c.745G>A	X.37:g.20205975C>T	ENSP00000368884:p.Ala249Thr					RPS6KA3_uc011mjk.1_Missense_Mutation_p.A220T|RPS6KA3_uc004czv.2_Missense_Mutation_p.A237T|RPS6KA3_uc011mjl.1_Missense_Mutation_p.A221T|RPS6KA3_uc011mjm.1_Missense_Mutation_p.A221T	p.A249T	NM_004586	NP_004577	P51812	KS6A3_HUMAN			9	745	-			249			Protein kinase 1.		B2R9V4|Q4VAP3|Q59H26|Q5JPK8|Q7Z3Z7	Missense_Mutation	SNP	ENST00000379565.3	37	c.745G>A	CCDS14197.1	.	.	.	.	.	.	.	.	.	.	C	35	5.482423	0.96307	.	.	ENSG00000177189	ENST00000379565;ENST00000544447;ENST00000379548;ENST00000540702;ENST00000457145	T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78	4.76	4.76	0.60689	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.40272	0.1110	L	0.33137	0.985	0.80722	D	1	D;D;D;D	0.67145	0.988;0.995;0.989;0.996	P;P;D;P	0.67103	0.906;0.848;0.949;0.906	T	0.36407	-0.9749	10	0.72032	D	0.01	.	16.9773	0.86316	0.0:1.0:0.0:0.0	.	221;220;221;249	B4DG22;F5GYC4;B7ZB17;P51812	.;.;.;KS6A3_HUMAN	T	249;221;220;221;220	ENSP00000368884:A249T;ENSP00000440220:A221T;ENSP00000368865:A220T;ENSP00000444837:A221T;ENSP00000407655:A220T	ENSP00000368865:A220T	A	-	1	0	RPS6KA3	20115896	1.000000	0.71417	0.983000	0.44433	0.995000	0.86356	7.776000	0.85560	1.925000	0.55765	0.513000	0.50165	GCT		0.393	RPS6KA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056011.3		NM_004586		41	71	0	0	0	0.00874	0	41	71		
KDM6A	7403	broad.mit.edu	37	X	44969392	44969392	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chrX:44969392C>A	ENST00000377967.4	+	28	4115	c.4074C>A	c.(4072-4074)tgC>tgA	p.C1358*	KDM6A_ENST00000536777.1_Nonsense_Mutation_p.C1313*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.C1365*|KDM6A_ENST00000479423.1_3'UTR|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.C1279*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1358					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						TAGTACATTGCCAAGATTGTG	0.368			"""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.(4072-4074)TGC>TGA		ubiquitously transcribed tetratricopeptide							130.0	119.0	122.0					X																	44969392		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:44969392C>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.4074C>A	X.37:g.44969392C>A	ENSP00000367203:p.Cys1358*					KDM6A_uc011mkz.1_Nonsense_Mutation_p.C1410*|KDM6A_uc011mla.1_Nonsense_Mutation_p.C1313*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.C1365*|KDM6A_uc011mlc.1_Nonsense_Mutation_p.C1062*|KDM6A_uc011mld.1_Nonsense_Mutation_p.C997*	p.C1358*	NM_021140	NP_066963	O15550	KDM6A_HUMAN			28	4449	+			1358					Q52LL9|Q5JVQ7	Nonsense_Mutation	SNP	ENST00000377967.4	37	c.4074C>A	CCDS14265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.910683|7.910683	0.98557|0.98557	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216|ENST00000414389;ENST00000433797;ENST00000431196	.|.	.|.	.|.	5.63|5.63	4.77|4.77	0.60923|0.60923	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.64549	.|0.2608	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70215	.|-0.4933	.|3	0.02654|.	T|.	1|.	-8.4084|-8.4084	13.7535|13.7535	0.62921|0.62921	0.0:0.9244:0.0:0.0756|0.0:0.9244:0.0:0.0756	.|.	.|.	.|.	.|.	X|T	1055;1358;1313;1365;1279|956;1001;118	.|.	ENSP00000334340:C1055X|.	C|P	+|+	3|1	2|0	KDM6A|KDM6A	44854336|44854336	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.885000|1.885000	0.39678|0.39678	1.137000|1.137000	0.42214|0.42214	0.600000|0.600000	0.82982|0.82982	TGC|CCA		0.368	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1		NM_021140		14	34	1	0	7.93312e-07	0.00245	8.34304e-07	14	34		
FOXP3	50943	broad.mit.edu	37	X	49107796	49107796	+	Nonstop_Mutation	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chrX:49107796C>G	ENST00000376207.4	-	12	1482	c.1295G>C	c.(1294-1296)tGa>tCa	p.*432S	FOXP3_ENST00000376197.1_Nonstop_Mutation_p.*442S|FOXP3_ENST00000376199.2_Nonstop_Mutation_p.*397S|FOXP3_ENST00000455775.2_Nonstop_Mutation_p.*405S|FOXP3_ENST00000557224.1_Nonstop_Mutation_p.*457S|FOXP3_ENST00000518685.1_Nonstop_Mutation_p.*397S	NM_014009.3	NP_054728.2	Q9BZS1	FOXP3_HUMAN	forkhead box P3	0					B cell homeostasis (GO:0001782)|CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|chromatin remodeling (GO:0006338)|cytokine production (GO:0001816)|myeloid cell homeostasis (GO:0002262)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chronic inflammatory response (GO:0002677)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of immune response (GO:0050777)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T cell cytokine production (GO:0002725)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of histone acetylation (GO:0035066)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of peripheral T cell tolerance induction (GO:0002851)|positive regulation of T cell anergy (GO:0002669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of isotype switching to IgG isotypes (GO:0048302)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell activation (GO:0042110)|T cell homeostasis (GO:0043029)|T cell mediated immunity (GO:0002456)|T cell receptor signaling pathway (GO:0050852)|tolerance induction to self antigen (GO:0002513)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NF-kappaB binding (GO:0051059)|NFAT protein binding (GO:0051525)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					ATCTTGAGGTCAGGGGCCAGG	0.617																																					GBM(182;1432 2112 16160 23073 31774)	uc004dnf.3		NaN																	0					0						c.(1294-1296)TGA>TCA		forkhead box P3 isoform a							61.0	44.0	50.0					X																	49107796		2202	4298	6500	SO:0001578	stop_lost	50943				B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen	cytoplasm|cytoplasm|nucleus|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription corepressor activity|zinc ion binding	g.chrX:49107796C>G		CCDS14323.1, CCDS48109.1	Xp11.23	2014-09-17		2002-09-20	ENSG00000049768	ENSG00000049768		"""Forkhead boxes"""	6106	protein-coding gene	gene with protein product		300292	"""immune dysregulation, polyendocrinopathy, enteropathy, X-linked"""	IPEX		10677306, 11138001	Standard	NM_014009		Approved	JM2, XPID, AIID, PIDX, DIETER, SCURFIN	uc004dnf.4	Q9BZS1	OTTHUMG00000024135	ENST00000376207.4:c.1295G>C	X.37:g.49107796C>G						FOXP3_uc011mnb.1_Nonstop_Mutation_p.*455S|FOXP3_uc011mnc.1_Nonstop_Mutation_p.*405S|FOXP3_uc004dne.3_Nonstop_Mutation_p.*397S|FOXP3_uc010niq.1_3'UTR	p.*432S	NM_014009	NP_054728	Q9BZS1	FOXP3_HUMAN			12	1483	-	Ovarian(276;0.236)		432					A5HJT1|B7ZLG0|B9UN80|O60827|Q14DD8|Q4ZH51	Nonstop_Mutation	SNP	ENST00000376207.4	37	c.1295G>C	CCDS14323.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.839435	0.32513	.	.	ENSG00000049768	ENST00000376207;ENST00000376199;ENST00000557224;ENST00000518685;ENST00000376197;ENST00000455775	.	.	.	4.58	1.73	0.24493	.	.	.	.	.	.	.	.	.	.	.	0.23425	N	0.997709	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.5459	0.27766	0.0:0.689:0.0:0.311	.	.	.	.	S	432;397;457;397;442;405	.	.	X	-	2	2	FOXP3	48994740	0.985000	0.35326	0.335000	0.25508	0.351000	0.29236	0.716000	0.25836	-0.061000	0.13110	0.431000	0.28591	TGA		0.617	FOXP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060814.1		NM_014009		9	23	0	0	0	0.008291	0	9	23		
ZXDB	158586	broad.mit.edu	37	X	57619922	57619922	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chrX:57619922G>A	ENST00000374888.1	+	1	1654	c.1441G>A	c.(1441-1443)Gac>Aac	p.D481N		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	481	Required for interaction with ZXDC. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						GCACGACGATGACCGGAGGTT	0.517																																						uc004dvd.2		NaN																	0					0						c.(1441-1443)GAC>AAC		zinc finger, X-linked, duplicated B							79.0	75.0	76.0					X																	57619922		2203	4300	6503	SO:0001583	missense	158586				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chrX:57619922G>A	L14788	CCDS35313.1	Xp11.1	2013-01-08			ENSG00000198455	ENSG00000198455		"""Zinc fingers, C2H2-type"""	13199	protein-coding gene	gene with protein product		300236				8268913	Standard	NM_007157		Approved	ZNF905	uc004dvd.3	P98169	OTTHUMG00000021685	ENST00000374888.1:c.1441G>A	X.37:g.57619922G>A	ENSP00000364023:p.Asp481Asn						p.D481N	NM_007157	NP_009088	P98169	ZXDB_HUMAN			1	1654	+			481			Required for interaction with ZXDC (By similarity).		A8K151|Q9UBB3	Missense_Mutation	SNP	ENST00000374888.1	37	c.1441G>A	CCDS35313.1	.	.	.	.	.	.	.	.	.	.	.	21.6	4.167062	0.78339	.	.	ENSG00000198455	ENST00000374888	T	0.38077	1.16	3.64	3.64	0.41730	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.48259	0.1490	L	0.48260	1.515	0.80722	D	1	D	0.67145	0.996	P	0.62740	0.906	T	0.51725	-0.8669	10	0.87932	D	0	.	12.2823	0.54771	0.0:0.0:1.0:0.0	.	481	P98169	ZXDB_HUMAN	N	481	ENSP00000364023:D481N	ENSP00000364023:D481N	D	+	1	0	ZXDB	57636647	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	7.152000	0.77419	1.832000	0.53329	0.483000	0.47432	GAC		0.517	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056922.1		NM_007157		53	76	0	0	0	0.01441	0	53	76		
LAS1L	81887	broad.mit.edu	37	X	64734785	64734785	+	Missense_Mutation	SNP	T	T	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chrX:64734785T>A	ENST00000374811.3	-	13	2036	c.1996A>T	c.(1996-1998)Atg>Ttg	p.M666L	LAS1L_ENST00000312391.8_3'UTR|LAS1L_ENST00000374807.5_Missense_Mutation_p.M649L|LAS1L_ENST00000374804.5_Missense_Mutation_p.M607L	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	666					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						TTCTCCAGCATGAGCTCTGCT	0.557																																						uc004dwa.1		NaN																	0				ovary(3)|large_intestine(1)	4						c.(1996-1998)ATG>TTG		LAS1-like							116.0	79.0	91.0					X																	64734785		2203	4300	6503	SO:0001583	missense	81887					MLL1 complex|nucleolus	protein binding	g.chrX:64734785T>A	BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.1996A>T	X.37:g.64734785T>A	ENSP00000363944:p.Met666Leu					LAS1L_uc004dwc.1_Missense_Mutation_p.M649L|LAS1L_uc004dwd.1_Missense_Mutation_p.M607L|LAS1L_uc004dvy.1_Missense_Mutation_p.M179L|LAS1L_uc004dvz.1_Missense_Mutation_p.M179L	p.M666L	NM_031206	NP_112483	Q9Y4W2	LAS1L_HUMAN			13	2068	-			666					A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Missense_Mutation	SNP	ENST00000374811.3	37	c.1996A>T	CCDS14381.1	.	.	.	.	.	.	.	.	.	.	t	11.71	1.718865	0.30503	.	.	ENSG00000001497	ENST00000374807;ENST00000374811;ENST00000374804	.	.	.	4.74	2.05	0.26809	.	0.108809	0.64402	D	0.000018	T	0.45276	0.1334	L	0.46157	1.445	0.80722	D	1	B;B;B;B	0.12013	0.001;0.005;0.0;0.001	B;B;B;B	0.11329	0.002;0.006;0.001;0.002	T	0.25047	-1.0143	9	0.26408	T	0.33	.	8.5512	0.33453	0.0:0.0:0.3755:0.6245	.	607;649;666;179	Q9Y4W2-3;Q9Y4W2-2;Q9Y4W2;B3KNR6	.;.;LAS1L_HUMAN;.	L	649;666;607	.	ENSP00000363937:M607L	M	-	1	0	LAS1L	64651510	0.959000	0.32827	0.991000	0.47740	0.994000	0.84299	0.202000	0.17295	0.488000	0.27723	0.347000	0.21830	ATG		0.557	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056974.1		NM_031206		13	22	0	0	0	0.013537	0	13	22		
OGT	8473	broad.mit.edu	37	X	70784453	70784453	+	Silent	SNP	C	C	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chrX:70784453C>A	ENST00000373719.3	+	19	2656	c.2439C>A	c.(2437-2439)atC>atA	p.I813I	OGT_ENST00000373701.3_Silent_p.I803I	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	813					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					TGTTCTAGATCAACAATAAGG	0.383																																						uc004eaa.1		NaN																	0				ovary(3)|kidney(1)|pancreas(1)	5						c.(2437-2439)ATC>ATA		O-linked GlcNAc transferase isoform 1							74.0	63.0	67.0					X																	70784453		2203	4300	6503	SO:0001819	synonymous_variant	8473				cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	g.chrX:70784453C>A	U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.2439C>A	X.37:g.70784453C>A						BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.1_Silent_p.I803I|OGT_uc004eac.2_Silent_p.I674I|OGT_uc004ead.2_Silent_p.I432I	p.I813I	NM_181672	NP_858058	O15294	OGT1_HUMAN			19	2656	+	Renal(35;0.156)		813					Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Silent	SNP	ENST00000373719.3	37	c.2439C>A	CCDS14414.1																																																																																				0.383	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3		NM_003605, NM_181672		17	22	1	0	3.32936e-07	0.006122	3.53361e-07	17	22		
STAG2	10735	broad.mit.edu	37	X	123182853	123182853	+	Splice_Site	SNP	A	A	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chrX:123182853A>C	ENST00000371160.1	+	10	1109		c.e10-1		STAG2_ENST00000371145.3_Splice_Site|STAG2_ENST00000218089.9_Splice_Site|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371144.3_Splice_Site|STAG2_ENST00000354548.5_Splice_Site|STAG2_ENST00000371157.3_Splice_Site	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2						meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GTTTTTTTACAGCTTCAGGAA	0.308																																						uc004etz.3		NaN																	0				ovary(4)|skin(1)	5						c.e9-2		stromal antigen 2 isoform b							94.0	85.0	88.0					X																	123182853		2203	4295	6498	SO:0001630	splice_region_variant	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123182853A>C	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.820-1A>C	X.37:g.123182853A>C						STAG2_uc004eua.2_Splice_Site_p.L274_splice|STAG2_uc004eub.2_Splice_Site_p.L274_splice|STAG2_uc004euc.2_Splice_Site_p.L274_splice|STAG2_uc004eud.2_Splice_Site_p.L274_splice|STAG2_uc004eue.2_Splice_Site_p.L274_splice	p.L274_splice	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN			9	1159	+								B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Splice_Site	SNP	ENST00000371160.1	37	c.820_splice	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.376588	0.82682	.	.	ENSG00000101972	ENST00000218089;ENST00000455404;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3807	0.66908	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STAG2	123010534	1.000000	0.71417	0.990000	0.47175	0.964000	0.63967	9.228000	0.95250	1.860000	0.53959	0.486000	0.48141	.		0.308	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2		NM_006603	Intron	24	26	0	0	0	0.00278	0	24	26		
MAGEC2	51438	broad.mit.edu	37	X	141291023	141291024	+	Nonsense_Mutation	DNP	CC	CC	TT			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chrX:141291023_141291024CC>TT	ENST00000247452.3	-	3	1097_1098	c.750_751GG>AA	c.(748-753)tgGGaa>tgAAaa	p.250_251WE>*K		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	250	Interaction with TRIM28.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TTCAGCACTTCCCAGATGACCT	0.515										HNSCC(46;0.14)																												uc004fbu.1		NaN																	0				breast(2)	2						c.(748-753)TGGGAA>TGAAAA		melanoma antigen family C, 2																																				SO:0001587	stop_gained	51438					cytoplasm|nucleus		g.chrX:141291023_141291024CC>TT	AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"""cancer/testis antigen 10"""	300468	"""melanoma antigen, family E, 1, cancer/testis specific"""	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.750_751delinsTT	X.37:g.141291023_141291024delinsTT	ENSP00000354660:p.W250_E251delins*K	HNSCC(46;0.14)					p.250_251WE>*K	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN			3	1098_1099	-	Acute lymphoblastic leukemia(192;6.56e-05)		250_251			MAGE.		Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Nonsense_Mutation	DNP	ENST00000247452.3	37	c.750_751GG>AA	CCDS14678.1																																																																																				0.515	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1		NM_016249		59	129	0	0	0	0.004672	0	59	129		
SPANXN2	494119	broad.mit.edu	37	X	142803727	142803727	+	Missense_Mutation	SNP	C	C	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chrX:142803727C>A	ENST00000370498.1	-	1	789	c.36G>T	c.(34-36)aaG>aaT	p.K12N		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	12										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTCTTCCTCTTCTCCCCAT	0.433																																						uc004fbz.2		NaN																	0				ovary(1)	1						c.(34-36)AAG>AAT		SPANX-N2 protein							262.0	251.0	255.0					X																	142803727		2203	4300	6503	SO:0001583	missense	494119							g.chrX:142803727C>A		CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 7"""	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.36G>T	X.37:g.142803727C>A	ENSP00000359529:p.Lys12Asn						p.K12N	NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN			1	790	-	Acute lymphoblastic leukemia(192;6.56e-05)		12					Q0ZNM2	Missense_Mutation	SNP	ENST00000370498.1	37	c.36G>T	CCDS35419.1	.	.	.	.	.	.	.	.	.	.	c	10.15	1.270780	0.23221	.	.	ENSG00000203924	ENST00000370498	T	0.15372	2.43	1.07	1.07	0.20283	.	.	.	.	.	T	0.28034	0.0691	M	0.71206	2.165	0.09310	N	1	P	0.47034	0.889	P	0.53861	0.736	T	0.08722	-1.0708	9	0.52906	T	0.07	.	5.1989	0.15252	0.0:1.0:0.0:0.0	.	12	Q5MJ10	SPXN2_HUMAN	N	12	ENSP00000359529:K12N	ENSP00000359529:K12N	K	-	3	2	SPANXN2	142631393	0.001000	0.12720	0.002000	0.10522	0.031000	0.12232	0.266000	0.18534	0.830000	0.34757	0.274000	0.19336	AAG		0.433	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058621.2		NM_001009615		58	205	1	0	2.165e-29	0.01441	2.50532e-29	58	205		
MTM1	4534	broad.mit.edu	37	X	149809841	149809841	+	Missense_Mutation	SNP	G	G	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chrX:149809841G>T	ENST00000370396.2	+	8	682	c.628G>T	c.(628-630)Gat>Tat	p.D210Y	MTM1_ENST00000542741.1_Missense_Mutation_p.D115Y|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Missense_Mutation_p.D95Y|MTM1_ENST00000413012.2_Missense_Mutation_p.D173Y	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	210	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					TCGTGCCTCAGATGATGACCT	0.438																																						uc004fef.3		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						c.(628-630)GAT>TAT		myotubularin							167.0	150.0	156.0					X																	149809841		2203	4300	6503	SO:0001583	missense	4534				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chrX:149809841G>T	U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7448	protein-coding gene	gene with protein product		300415	"""myotubular myopathy 1"""				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.628G>T	X.37:g.149809841G>T	ENSP00000359423:p.Asp210Tyr					MTM1_uc011mxx.1_RNA|MTM1_uc011mxy.1_Missense_Mutation_p.D173Y|MTM1_uc011mxz.1_Missense_Mutation_p.D95Y|MTM1_uc010nte.2_Missense_Mutation_p.D78Y	p.D210Y	NM_000252	NP_000243	Q13496	MTM1_HUMAN			8	704	+	Acute lymphoblastic leukemia(192;6.56e-05)		210			Myotubularin phosphatase.		A6NDB1|B7Z491|F2Z330|Q8NEL1	Missense_Mutation	SNP	ENST00000370396.2	37	c.628G>T	CCDS14694.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.310283	0.81358	.	.	ENSG00000171100	ENST00000370396;ENST00000542741;ENST00000543350;ENST00000413012	D;D;D;D	0.95342	-3.68;-3.68;-3.68;-3.68	5.43	5.43	0.79202	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.107355	0.64402	D	0.000002	D	0.98604	0.9533	H	0.98936	4.375	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.992	D	0.99793	1.1032	10	0.87932	D	0	.	18.6083	0.91275	0.0:0.0:1.0:0.0	.	173;210	B7Z491;Q13496	.;MTM1_HUMAN	Y	210;115;95;173	ENSP00000359423:D210Y;ENSP00000444015:D115Y;ENSP00000439784:D95Y;ENSP00000389157:D173Y	ENSP00000359423:D210Y	D	+	1	0	MTM1	149560499	1.000000	0.71417	0.930000	0.37139	0.975000	0.68041	9.373000	0.97168	2.425000	0.82216	0.523000	0.50628	GAT		0.438	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060847.3		NM_000252		10	54	1	0	3.86212e-05	0.008291	4.01289e-05	10	54		
PNCK	139728	broad.mit.edu	37	X	152937346	152937346	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chrX:152937346G>A	ENST00000370150.1	-	5	581	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W	PNCK_ENST00000393831.2_Missense_Mutation_p.R135W|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000340888.3_Missense_Mutation_p.R135W|PNCK_ENST00000370145.4_Missense_Mutation_p.R152W|PNCK_ENST00000447676.2_Missense_Mutation_p.R218W|PNCK_ENST00000370142.1_Missense_Mutation_p.R135W			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	135	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTGAGGTCCCGGTGCACGATC	0.662																																						uc011myu.1		NaN																	0				breast(1)	1						c.(652-654)CGG>TGG		pregnancy upregulated non-ubiquitously expressed							23.0	22.0	22.0					X																	152937346		2203	4293	6496	SO:0001583	missense	139728					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chrX:152937346G>A	BC033746	CCDS35503.2, CCDS48189.1	Xq28	2013-10-14	2013-10-14		ENSG00000130822	ENSG00000130822			13415	protein-coding gene	gene with protein product		300680	"""pregnancy upregulated non-ubiquitously expressed CaM kinase"", ""pregnancy up-regulated non-ubiquitously expressed CaM kinase"""			12477932	Standard	NM_001039582		Approved	MGC45419, CaMK1b	uc011myu.2	Q6P2M8	OTTHUMG00000024216	ENST00000370150.1:c.403C>T	X.37:g.152937346G>A	ENSP00000359169:p.Arg135Trp					PNCK_uc011myt.1_Missense_Mutation_p.R152W|PNCK_uc004fia.2_Missense_Mutation_p.R147W|PNCK_uc004fhz.3_Missense_Mutation_p.R33W|PNCK_uc010nuh.2_3'UTR|PNCK_uc011myv.1_Missense_Mutation_p.R162W|PNCK_uc011myw.1_Missense_Mutation_p.R162W	p.R218W	NM_001039582	NP_001034671	Q6P2M8	KCC1B_HUMAN			5	838	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		135			Protein kinase.		B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	Missense_Mutation	SNP	ENST00000370150.1	37	c.652C>T		.	.	.	.	.	.	.	.	.	.	g	19.33	3.807342	0.70797	.	.	ENSG00000130822	ENST00000340888;ENST00000370150;ENST00000393831;ENST00000370142;ENST00000370145;ENST00000447676;ENST00000439087;ENST00000422811	T;T;T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76	5.01	5.01	0.66863	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.132026	0.33534	N	0.004802	D	0.82609	0.5074	H	0.99415	4.555	0.51482	D	0.999924	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.988;0.983;0.99	D	0.90759	0.4663	10	0.87932	D	0	-12.8261	16.1386	0.81509	0.0:0.0:1.0:0.0	.	162;218;152;135	B4DJG4;Q6P2M8-5;B4E1A6;Q6P2M8	.;.;.;KCC1B_HUMAN	W	135;135;135;135;152;218;135;135	ENSP00000340586:R135W;ENSP00000359169:R135W;ENSP00000377417:R135W;ENSP00000359161:R135W;ENSP00000359164:R152W;ENSP00000405950:R218W;ENSP00000415770:R135W;ENSP00000391772:R135W	ENSP00000340586:R135W	R	-	1	2	PNCK	152590540	1.000000	0.71417	0.997000	0.53966	0.857000	0.48899	2.752000	0.47516	2.060000	0.61445	0.529000	0.55759	CGG		0.662	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000061044.2		NM_198452		6	18	0	0	0	0.001168	0	6	18		
KLHDC7A	127707	broad.mit.edu	37	1	18807481	18807497	+	Frame_Shift_Del	DEL	CCCCAGAGGAGCAGAGG	CCCCAGAGGAGCAGAGG	-	rs376432930		TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:18807481_18807497delCCCCAGAGGAGCAGAGG	ENST00000400664.1	+	1	58_74	c.6_22delCCCCAGAGGAGCAGAGG	c.(4-24)ttccccagaggagcagaggccfs	p.PRGAEA3fs		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	3						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGCATGTTCCCCAGAGGAGCAGAGGCCCAGGACTG	0.581																																						uc001bax.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(4-24)TTCCCCAGAGGAGCAGAGGCCfs		kelch domain containing 7A																																				SO:0001589	frameshift_variant	127707					integral to membrane		g.chr1:18807481_18807497delCCCCAGAGGAGCAGAGG	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.6_22delCCCCAGAGGAGCAGAGG	1.37:g.18807481_18807497delCCCCAGAGGAGCAGAGG	ENSP00000383505:p.Pro3fs					KLHDC7A_uc009vpg.2_5'Flank	p.F2fs	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	58_74	+		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	2_8					Q8N8W6	Frame_Shift_Del	DEL	ENST00000400664.1	37	c.6_22delCCCCAGAGGAGCAGAGG	CCDS185.2																																																																																				0.581	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3		NM_152375		15	31	NaN	NaN	NaN	NaN	NaN	15	31	---	---
SLAMF1	6504	broad.mit.edu	37	1	160589601	160589601	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:160589601delT	ENST00000302035.6	-	5	1178	c.829delA	c.(829-831)agcfs	p.S277fs	SLAMF1_ENST00000355199.3_Frame_Shift_Del_p.S277fs|SLAMF1_ENST00000235739.5_Frame_Shift_Del_p.S247fs|SLAMF1_ENST00000538290.1_Intron	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	277					lymphocyte activation (GO:0046649)|positive regulation of cell proliferation (GO:0008284)|regulation of catalytic activity (GO:0050790)|regulation of vesicle fusion (GO:0031338)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|phagocytic vesicle (GO:0045335)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATCGTAAGGCTTTTTTTTTCC	0.433																																						uc001fwl.3		NaN																	0				ovary(1)|breast(1)	2						c.(829-831)AGCfs		signaling lymphocytic activation molecule family							265.0	264.0	264.0					1																	160589601		2203	4300	6503	SO:0001589	frameshift_variant	6504				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity	g.chr1:160589601delT	U33017	CCDS1207.1	1q23.3	2013-01-11	2003-10-29	2003-10-31	ENSG00000117090	ENSG00000117090		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10903	protein-coding gene	gene with protein product		603492	"""signaling lymphocytic activation molecule"""	SLAM		7617038	Standard	XM_005245456		Approved	CD150	uc001fwl.4	Q13291	OTTHUMG00000024006	ENST00000302035.6:c.829delA	1.37:g.160589601delT	ENSP00000306190:p.Ser277fs					SLAMF1_uc010pjk.1_Intron|SLAMF1_uc010pjl.1_Intron|SLAMF1_uc010pjm.1_Intron	p.S277fs	NM_003037	NP_003028	Q13291	SLAF1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		5	1175	-	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		277			Cytoplasmic (Potential).|Ig-like V-type.		Q5W172|Q9HBE8	Frame_Shift_Del	DEL	ENST00000302035.6	37	c.829delA	CCDS1207.1																																																																																				0.433	SLAMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060454.1				8	131	NaN	NaN	NaN	NaN	NaN	8	131	---	---
ELF3	1999	broad.mit.edu	37	1	201983137	201983153	+	Splice_Site	DEL	TGAGCCGGGCCATGAGG	TGAGCCGGGCCATGAGG	-	rs373898432		TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08			TGAGCCGGGCCATGAGG	-	TGAGCCGGGCCATGAGG	TGAGCCGGGCCATGAGG		Valid	Somatic	Phase_I	WXS	Fluidigm_realigned			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:201983137_201983153delTGAGCCGGGCCATGAGG	ENST00000359651.3	+	7	4178_4193	c.986_1001delTGAGCCGGGCCATGAGG	c.(985-1002)ctgagccgggccatgagg>cg	p.LSRAMR329fs	ELF3_ENST00000367284.5_Splice_Site_p.LSRAMR329fs|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367283.3_Splice_Site_p.LSRAMR329fs					E74-like factor 3 (ets domain transcription factor, epithelial-specific )									p.R331R(2)		breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						TACGAGAAGCTGAGCCGGGCCATGAGGTGAGCTGGCG	0.59																																						uc001gxg.3		NaN																	2	Substitution - coding silent(2)		lung(2)		0						c.e7+1		E74-like factor 3 (ets domain transcription																																				SO:0001630	splice_region_variant	1999				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:201983137_201983153delTGAGCCGGGCCATGAGG	AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.1001+1TGAGCCGGGCCATGAGG>-	1.37:g.201983137_201983153delTGAGCCGGGCCATGAGG						ELF3_uc001gxi.3_Splice_Site_p.R334_splice|ELF3_uc001gxh.3_Splice_Site_p.R334_splice	p.R334_splice	NM_004433	NP_004424	P78545	ELF3_HUMAN			7	4193	+									Splice_Site	DEL	ENST00000359651.3	37	c.1001_splice	CCDS1419.1																																																																																				0.590	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087360.1		NM_004433	Frame_Shift_Del	14	3	NaN	NaN	NaN	NaN	NaN	14	3	---	---
ABCC8	6833	broad.mit.edu	37	11	17428979	17428979	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr11:17428979delC	ENST00000389817.3	-	24	2910	c.2842delG	c.(2842-2844)gccfs	p.A948fs	ABCC8_ENST00000302539.4_Frame_Shift_Del_p.A949fs			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	948					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	GGCTCTGTGGCTTTTCTCTCT	0.542																																						uc001mnc.2		NaN																	0				ovary(1)	1						c.(2842-2844)GCCfs		ATP-binding cassette, sub-family C, member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						118.0	116.0	117.0					11																	17428979		2200	4293	6493	SO:0001589	frameshift_variant	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17428979delC	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.2842delG	11.37:g.17428979delC	ENSP00000374467:p.Ala948fs						p.A948fs	NM_000352	NP_000343	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	24	2968	-			948			Cytoplasmic (By similarity).		A6NMX8|E3UYX6|O75948|Q16583	Frame_Shift_Del	DEL	ENST00000389817.3	37	c.2842delG	CCDS31437.1																																																																																				0.542	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1		NM_000352		20	78	NaN	NaN	NaN	NaN	NaN	20	78	---	---
LCAT	3931	broad.mit.edu	37	16	67974100	67974109	+	Frame_Shift_Del	DEL	GCAGGCCCAC	GCAGGCCCAC	-			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr16:67974100_67974109delGCAGGCCCAC	ENST00000264005.5	-	6	1050_1059	c.1021_1030delGTGGGCCTGC	c.(1021-1032)gtgggcctgcccfs	p.VGLP341fs		NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	341					cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein metabolic process (GO:0042157)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of high-density lipoprotein particle assembly (GO:0090107)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)	apolipoprotein A-I binding (GO:0034186)|phosphatidylcholine-sterol O-acyltransferase activity (GO:0004607)			cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		CGGGGCGTGGGCAGGCCCACGCCGTAAAGA	0.61																																						uc002euy.1		NaN																	0					0						c.(1021-1032)GTGGGCCTGCCCfs		lecithin-cholesterol acyltransferase precursor																																				SO:0001589	frameshift_variant	3931				cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity	g.chr16:67974100_67974109delGCAGGCCCAC		CCDS10854.1	16q22.1	2012-10-02			ENSG00000213398	ENSG00000213398	2.3.1.43		6522	protein-coding gene	gene with protein product		606967					Standard	NM_000229		Approved		uc002euy.1	P04180	OTTHUMG00000137551	ENST00000264005.5:c.1021_1030delGTGGGCCTGC	16.37:g.67974100_67974109delGCAGGCCCAC	ENSP00000264005:p.Val341fs						p.V341fs	NM_000229	NP_000220	P04180	LCAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)	6	1032_1041	-		Ovarian(137;0.0563)	341_344					Q53XQ3	Frame_Shift_Del	DEL	ENST00000264005.5	37	c.1021_1030delGTGGGCCTGC	CCDS10854.1																																																																																				0.610	LCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268885.3				30	121	NaN	NaN	NaN	NaN	NaN	30	121	---	---
HERC6	55008	broad.mit.edu	37	4	89300153	89300161	+	In_Frame_Del	DEL	AGGCGGCCA	AGGCGGCCA	-			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr4:89300153_89300161delAGGCGGCCA	ENST00000264346.7	+	1	139_147	c.80_88delAGGCGGCCA	c.(79-90)caggcggccagc>cgc	p.27_30QAAS>R	HERC6_ENST00000380265.5_In_Frame_Del_p.27_30QAAS>R|HERC6_ENST00000273960.3_In_Frame_Del_p.27_30QAAS>R	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	27					hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		GAGCTACTGCAGGCGGCCAGCGGGGAGCG	0.722																																						uc011cdi.1		NaN																	0				lung(3)|ovary(1)|kidney(1)	5						c.(79-90)CAGGCGGCCAGC>CGC		hect domain and RLD 6 isoform 1																																				SO:0001651	inframe_deletion	55008				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity	g.chr4:89300153_89300161delAGGCGGCCA	AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"""hect domain and RLD 6"""				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.80_88delAGGCGGCCA	4.37:g.89300153_89300161delAGGCGGCCA	ENSP00000264346:p.Gln27_Ser30delinsArg					HERC6_uc003hrp.1_RNA|HERC6_uc011cdj.1_In_Frame_Del_p.27_30QAAS>R|HERC6_uc011cdk.1_RNA|HERC6_uc011cdl.1_RNA	p.27_30QAAS>R	NM_017912	NP_060382	Q8IVU3	HERC6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000222)	1	263_271	+		Hepatocellular(203;0.114)	27_30					B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	In_Frame_Del	DEL	ENST00000264346.7	37	c.80_88delAGGCGGCCA	CCDS47098.1																																																																																				0.722	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363259.2				7	10	NaN	NaN	NaN	NaN	NaN	7	10	---	---
TMED9	54732	broad.mit.edu	37	5	177019252	177019268	+	Frame_Shift_Del	DEL	CGGCCCGGAACCGGGCT	CGGCCCGGAACCGGGCT	-	rs202238576|rs57960711	byFrequency	TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr5:177019252_177019268delCGGCCCGGAACCGGGCT	ENST00000332598.6	+	1	94_110	c.37_53delCGGCCCGGAACCGGGCT	c.(37-54)cggcccggaaccgggctgfs	p.RPGTGL13fs		NM_017510.4	NP_059980.2	Q9BVK6	TMED9_HUMAN	transmembrane emp24 protein transport domain containing 9	13					COPI coating of Golgi vesicle (GO:0048205)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|trans-Golgi network transport vesicle (GO:0030140)	syntaxin binding (GO:0019905)	p.L18L(1)		endometrium(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(2)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGTCCGGCCCCGGCCCGGAACCGGGCTGGGTAGAGTG	0.696																																						uc003mhx.2		NaN																	1	Substitution - coding silent(1)		lung(1)		0						c.(37-54)CGGCCCGGAACCGGGCTGfs		transmembrane emp24 protein transport domain																																				SO:0001589	frameshift_variant	54732				transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane		g.chr5:177019252_177019268delCGGCCCGGAACCGGGCT	AF441399	CCDS4428.1	5q35.3	2008-02-05			ENSG00000184840	ENSG00000184840			24878	protein-coding gene	gene with protein product						12477932	Standard	NM_017510		Approved	HSGP25L2G	uc003mhx.3	Q9BVK6	OTTHUMG00000130859	ENST00000332598.6:c.37_53delCGGCCCGGAACCGGGCT	5.37:g.177019252_177019268delCGGCCCGGAACCGGGCT	ENSP00000330945:p.Arg13fs					TMED9_uc010jko.2_RNA	p.R13fs	NM_017510	NP_059980	Q9BVK6	TMED9_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	40_56	+	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	13_18					Q14437|Q8WZ61	Frame_Shift_Del	DEL	ENST00000332598.6	37	c.37_53delCGGCCCGGAACCGGGCT	CCDS4428.1																																																																																				0.696	TMED9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253433.1		NM_017510		10	10	NaN	NaN	NaN	NaN	NaN	10	10	---	---
ICK	22858	broad.mit.edu	37	6	52883129	52883129	+	Splice_Site	DEL	T	T	-			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr6:52883129delT	ENST00000350082.5	-	7	1008	c.662delA	c.(661-663)aag>ag	p.K221fs	ICK_ENST00000356971.3_Splice_Site_p.K221fs	NM_014920.3	NP_055735.1	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	221	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				intracellular signal transduction (GO:0035556)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					TATCATTACCTTTTTTGGTGT	0.502																																						uc003pbh.2		NaN																	0				ovary(1)|large_intestine(1)|lung(1)|kidney(1)|central_nervous_system(1)	5						c.(661-663)AAGfs		intestinal cell kinase							184.0	185.0	184.0					6																	52883129		2203	4300	6503	SO:0001630	splice_region_variant	22858				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding	g.chr6:52883129delT	AB023153	CCDS4949.1	6p12.3-p11.2	2008-02-05			ENSG00000112144	ENSG00000112144			21219	protein-coding gene	gene with protein product		612325				12103360	Standard	NM_014920		Approved	MRK, LCK2, KIAA0936, MGC46090	uc003pbi.2	Q9UPZ9	OTTHUMG00000014870	ENST00000350082.5:c.663+1A>-	6.37:g.52883129delT						ICK_uc003pbi.2_Frame_Shift_Del_p.K221fs|ICK_uc003pbj.2_Frame_Shift_Del_p.K221fs	p.K221fs	NM_016513	NP_057597	Q9UPZ9	ICK_HUMAN			8	1152	-	Lung NSC(77;0.103)		221			Protein kinase.		A7MD41|O75985|Q5THL2|Q8IYH8|Q9BX17|Q9NYX3	Frame_Shift_Del	DEL	ENST00000350082.5	37	c.662delA	CCDS4949.1																																																																																				0.502	ICK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040952.1		NM_016513	Frame_Shift_Del	7	175	NaN	NaN	NaN	NaN	NaN	7	175	---	---
FER1L6	654463	broad.mit.edu	37	8	125015471	125015472	+	Frame_Shift_Ins	INS	-	-	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr8:125015471_125015472insA	ENST00000522917.1	+	13	1790_1791	c.1584_1585insA	c.(1585-1587)gaafs	p.E529fs	FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Frame_Shift_Ins_p.E529fs	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	529						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CTGAATCAGCTGAAGAAGACCT	0.535																																						uc003yqw.2		NaN																	0				ovary(5)|skin(5)|central_nervous_system(1)	11						c.(1582-1587)GCTGAAfs		fer-1-like 6																																				SO:0001589	frameshift_variant	654463					integral to membrane		g.chr8:125015471_125015472insA	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	Exception_encountered	8.37:g.125015471_125015472insA	ENSP00000428280:p.Glu529fs					uc003yqx.1_Intron	p.A528fs	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		13	1790_1791	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		528_529			Cytoplasmic (Potential).			Frame_Shift_Ins	INS	ENST00000522917.1	37	c.1584_1585insA	CCDS43767.1																																																																																				0.535	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1		NM_001039112		20	46	NaN	NaN	NaN	NaN	NaN	20	46	---	---
