#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
AGRN	375790	broad.mit.edu	37	1	979601	979601	+	Silent	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:979601C>G	ENST00000379370.2	+	11	2162	c.2112C>G	c.(2110-2112)gtC>gtG	p.V704V		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	704	Kazal-like 8. {ECO:0000255|PROSITE- ProRule:PRU00798}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-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)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GGCCGTGTGTCTGTGACTTCA	0.706																																						uc001ack.1		NaN																	0				central_nervous_system(2)|breast(1)	3						c.(2110-2112)GTC>GTG		agrin precursor							82.0	91.0	88.0					1																	979601		2203	4300	6503	SO:0001819	synonymous_variant	375790				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	g.chr1:979601C>G	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	329	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.2112C>G	1.37:g.979601C>G							p.V704V	NM_198576	NP_940978	O00468	AGRIN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)	11	2162	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-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)|Lung SC(97;0.128)	704			Kazal-like 8.		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Silent	SNP	ENST00000379370.2	37	c.2112C>G	CCDS30551.1																																																																																				0.706	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2		NM_198576		24	33	0	0	0	0.01892	0	24	33		
CDK11A	728642	broad.mit.edu	37	1	1636040	1636040	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:1636040C>T	ENST00000378633.1	-	14	1601	c.1522G>A	c.(1522-1524)Gag>Aag	p.E508K	CDK11A_ENST00000358779.5_Missense_Mutation_p.E495K|CDK11A_ENST00000357760.2_Missense_Mutation_p.E504K|CDK11A_ENST00000378638.2_Missense_Mutation_p.E471K|CDK11A_ENST00000404249.3_Missense_Mutation_p.E505K|CDK11A_ENST00000356200.3_Missense_Mutation_p.E471K|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000495016.1_5'Flank			Q9UQ88	CD11A_HUMAN	cyclin-dependent kinase 11A	508	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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						AGGTCGTGCTCCACGTAGTTC	0.617																																					Pancreas(186;965 2119 30274 40311 50569)	uc009vks.2		NaN																	0				stomach(1)	1						c.(1513-1515)GAG>AAG		cell division cycle 2-like 2 isoform 1							46.0	78.0	68.0					1																	1636040		1899	4144	6043	SO:0001583	missense	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.chr1:1636040C>T	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.1522G>A	1.37:g.1636040C>T	ENSP00000367900:p.Glu508Lys					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_Missense_Mutation_p.E12K|CDK11A_uc009vkp.2_Missense_Mutation_p.E122K|CDK11A_uc009vkq.2_RNA|CDK11A_uc009vkr.2_Missense_Mutation_p.E495K|CDK11A_uc010nys.1_Missense_Mutation_p.E495K|CDK11A_uc010nyt.1_3'UTR	p.E505K	NM_024011	NP_076916	Q9UQ88	CD11A_HUMAN			14	1621	-			508			Protein kinase.		O95227|O95228|O96012|Q12821|Q12853|Q12854|Q2TAJ0|Q5QPR0|Q5QPR1|Q5QPR2|Q9UBC4|Q9UBI3|Q9UEI1|Q9UEI2|Q9UP53|Q9UP54|Q9UP55|Q9UP56|Q9UQ86|Q9UQ87|Q9UQ89	Missense_Mutation	SNP	ENST00000378633.1	37	c.1513G>A		.	.	.	.	.	.	.	.	.	.	-	18.99	3.740212	0.69304	.	.	ENSG00000008128	ENST00000356200;ENST00000404249;ENST00000357760;ENST00000358779;ENST00000378633;ENST00000378638;ENST00000378630	T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83	2.23	2.23	0.28157	.	0.000000	0.85682	D	0.000000	T	0.65037	0.2653	M	0.73753	2.245	0.80722	D	1	D;D;D;D	0.76494	0.997;0.974;0.974;0.999	D;D;D;D	0.77004	0.989;0.953;0.953;0.973	T	0.70040	-0.4981	10	0.87932	D	0	.	11.7809	0.52013	0.0:1.0:0.0:0.0	.	495;505;495;122	B4E0N4;Q9UQ88-2;Q9UQ88-4;Q9UQ88-5	.;.;.;.	K	471;505;504;495;508;471;471	ENSP00000348529:E471K;ENSP00000384442:E505K;ENSP00000350403:E504K;ENSP00000351629:E495K;ENSP00000367900:E508K;ENSP00000367905:E471K	ENSP00000348529:E471K	E	-	1	0	CDK11A	1625900	1.000000	0.71417	0.999000	0.59377	0.899000	0.52679	6.276000	0.72601	1.267000	0.44247	0.423000	0.28283	GAG		0.617	CDK11A-005	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000001735.1		NM_024011		8	5	0	0	0	0.004482	0	8	5		
CDK11A	728642	broad.mit.edu	37	1	1636274	1636274	+	Intron	SNP	C	C	T	rs2179381	byFrequency	TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:1636274C>T	ENST00000378633.1	-	13	1547				CDK11A_ENST00000358779.5_Intron|CDK11A_ENST00000357760.2_Intron|CDK11A_ENST00000378638.2_Intron|CDK11A_ENST00000404249.3_Intron|CDK11A_ENST00000356200.3_Intron|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000495016.1_5'Flank			Q9UQ88	CD11A_HUMAN	cyclin-dependent kinase 11A						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						GCACCCGGCCCCAGGACAGCA	0.622													-|||	1486	0.296725	0.0688	0.4251	5008	,	,		15667	0.249		0.5209	False		,,,				2504	0.3323				Pancreas(186;965 2119 30274 40311 50569)	uc010nyt.1		NaN																	0				stomach(1)	1						c.(1525-1527)TGG>TGA		SubName: Full=cDNA FLJ56415, highly similar to PITSLRE serine/threonine-protein kinase CDC2L1 (EC 2.7.11.22);																																				SO:0001627	intron_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.chr1:1636274C>T	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.1467+68G>A	1.37:g.1636274C>T						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_5'UTR|CDK11A_uc009vkp.2_Intron|CDK11A_uc009vkq.2_Intron|CDK11A_uc009vkr.2_Intron|CDK11A_uc009vks.2_Intron|CDK11A_uc010nys.1_Intron	p.W509*			Q9UQ88	CD11A_HUMAN			13	1635	-			Error:Variant_position_missing_in_Q9UQ88_after_alignment					O95227|O95228|O96012|Q12821|Q12853|Q12854|Q2TAJ0|Q5QPR0|Q5QPR1|Q5QPR2|Q9UBC4|Q9UBI3|Q9UEI1|Q9UEI2|Q9UP53|Q9UP54|Q9UP55|Q9UP56|Q9UQ86|Q9UQ87|Q9UQ89	Nonsense_Mutation	SNP	ENST00000378633.1	37	c.1527G>A																																																																																					0.622	CDK11A-005	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000001735.1		NM_024011		5	24	0	0	0	0.014758	0	5	24		
CDK11A	728642	broad.mit.edu	37	1	1650892	1650892	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:1650892C>G	ENST00000378633.1	-	4	309	c.230G>C	c.(229-231)gGa>gCa	p.G77A	CDK11A_ENST00000358779.5_Missense_Mutation_p.G77A|CDK11A_ENST00000357760.2_Missense_Mutation_p.G77A|CDK11A_ENST00000378638.2_Missense_Mutation_p.G43A|CDK11A_ENST00000404249.3_Missense_Mutation_p.G77A|CDK11A_ENST00000378635.3_Missense_Mutation_p.G77A|CDK11A_ENST00000356200.3_Missense_Mutation_p.G43A|RP1-283E3.8_ENST00000598846.1_RNA			Q9UQ88	CD11A_HUMAN	cyclin-dependent kinase 11A	77	Glu-rich.				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						ATCTTCTTCTCCTCTGAAATA	0.388																																					Pancreas(186;965 2119 30274 40311 50569)	uc001agv.1		NaN																	0				skin(1)	1						c.(229-231)GGA>GCA		cell division cycle 2-like 1 (PITSLRE proteins)							238.0	225.0	229.0					1																	1650892		1904	4117	6021	SO:0001583	missense	984				apoptosis|cell proliferation|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.chr1:1650892C>G	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.230G>C	1.37:g.1650892C>G	ENSP00000367900:p.Gly77Ala					CDK11B_uc001ags.1_5'Flank|CDK11B_uc001agt.1_5'Flank|CDK11B_uc001aha.1_Missense_Mutation_p.G43A|CDK11B_uc001agw.1_Missense_Mutation_p.G43A|CDK11B_uc001agy.1_Missense_Mutation_p.G77A|CDK11B_uc001agx.1_Missense_Mutation_p.G77A|CDK11B_uc001agz.1_5'UTR|SLC35E2B_uc001ahh.3_Intron|SLC35E2_uc009vkm.1_Intron|CDK11A_uc009vkr.2_Missense_Mutation_p.G77A|CDK11A_uc009vks.2_Missense_Mutation_p.G77A|CDK11A_uc010nys.1_Missense_Mutation_p.G77A|CDK11A_uc010nyt.1_Missense_Mutation_p.G77A|CDK11A_uc010nyu.1_RNA|CDK11A_uc009vkt.1_Missense_Mutation_p.G77A|CDK11A_uc009vku.1_Missense_Mutation_p.G77A|CDK11A_uc009vkv.1_Missense_Mutation_p.G77A|CDK11A_uc001aht.1_Missense_Mutation_p.G77A|CDK11B_uc001ahu.1_Missense_Mutation_p.G77A|CDK11B_uc001ahv.1_Missense_Mutation_p.G77A|CDK11B_uc001ahw.1_Missense_Mutation_p.G77A	p.G77A	NM_033486	NP_277021	P21127	CD11B_HUMAN			6	341	-			77					O95227|O95228|O96012|Q12821|Q12853|Q12854|Q2TAJ0|Q5QPR0|Q5QPR1|Q5QPR2|Q9UBC4|Q9UBI3|Q9UEI1|Q9UEI2|Q9UP53|Q9UP54|Q9UP55|Q9UP56|Q9UQ86|Q9UQ87|Q9UQ89	Missense_Mutation	SNP	ENST00000378633.1	37	c.230G>C		.	.	.	.	.	.	.	.	.	.	-	14.69	2.609462	0.46527	.	.	ENSG00000008128	ENST00000356200;ENST00000404249;ENST00000357760;ENST00000358779;ENST00000378633;ENST00000378638;ENST00000378630;ENST00000378635;ENST00000479362	T;T;T;T;T;T;T;T	0.11063	2.81;2.81;2.81;2.81;2.81;2.81;2.81;2.81	5.11	5.11	0.69529	.	0.244803	0.32608	U	0.005866	T	0.22166	0.0534	L	0.34521	1.04	0.51233	D	0.999914	D;P;D;D;D;B;D;P;D;B;D	0.89917	0.999;0.615;0.966;0.999;1.0;0.04;1.0;0.938;0.977;0.096;0.957	D;B;P;D;D;B;D;P;P;B;P	0.87578	0.955;0.158;0.801;0.94;0.998;0.026;0.994;0.79;0.793;0.038;0.727	T	0.05022	-1.0911	10	0.17369	T	0.5	.	17.5426	0.87852	0.0:1.0:0.0:0.0	.	77;77;77;77;77;77;43;77;77;43;77	B4E0M9;B4E0N4;E7ESP2;Q5QPR3;Q9UQ88-2;Q9UQ88-4;Q5QPR4;P21127-3;Q9UQ88;P21127-6;P21127-2	.;.;.;.;.;.;.;.;CD11A_HUMAN;.;.	A	43;77;77;77;77;43;43;77;77	ENSP00000348529:G43A;ENSP00000384442:G77A;ENSP00000350403:G77A;ENSP00000351629:G77A;ENSP00000367900:G77A;ENSP00000367905:G43A;ENSP00000367902:G77A;ENSP00000423900:G77A	ENSP00000348529:G43A	G	-	2	0	CDK11A	1640752	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	5.252000	0.65445	2.356000	0.79943	0.655000	0.94253	GGA		0.388	CDK11A-005	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000001735.1		NM_024011		42	90	0	0	0	0.00874	0	42	90		
ACTRT2	140625	broad.mit.edu	37	1	2938728	2938728	+	Missense_Mutation	SNP	G	G	A	rs549750914		TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:2938728G>A	ENST00000378404.2	+	1	683	c.478G>A	c.(478-480)Ggg>Agg	p.G160R		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	160						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.G160W(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		GGTGGACAGCGGGGATGCGGT	0.642													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17857	0.0		0.0	False		,,,				2504	0.0					uc001ajz.2		NaN																	1	Substitution - Missense(1)		lung(1)		0						c.(478-480)GGG>AGG		actin-related protein M2							63.0	58.0	60.0					1																	2938728		2203	4300	6503	SO:0001583	missense	140625					cytoplasm|cytoskeleton		g.chr1:2938728G>A	AF440740, AB057364	CCDS45.1	1p36.3	2008-02-05	2005-11-22		ENSG00000169717	ENSG00000169717			24026	protein-coding gene	gene with protein product		608535				11750065, 12243744	Standard	NM_080431		Approved	Arp-T2, ARPM2, FLJ25424	uc001ajz.3	Q8TDY3	OTTHUMG00000000562	ENST00000378404.2:c.478G>A	1.37:g.2938728G>A	ENSP00000367658:p.Gly160Arg						p.G160R	NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)	1	683	+	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	160					B1AN52|Q8NHS6|Q8TDG1	Missense_Mutation	SNP	ENST00000378404.2	37	c.478G>A	CCDS45.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.477640	0.84640	.	.	ENSG00000169717	ENST00000378404;ENST00000543312	T	0.68331	-0.32	4.85	4.85	0.62838	.	0.000000	0.56097	D	0.000028	D	0.87565	0.6209	H	0.96748	3.875	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	D	0.92069	0.5663	10	0.87932	D	0	.	16.5311	0.84359	0.0:0.0:1.0:0.0	.	160	Q8TDY3	ACTT2_HUMAN	R	160	ENSP00000367658:G160R	ENSP00000367658:G160R	G	+	1	0	ACTRT2	2928588	1.000000	0.71417	0.993000	0.49108	0.971000	0.66376	9.656000	0.98514	2.228000	0.72767	0.561000	0.74099	GGG		0.642	ACTRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001331.1		NM_080431		4	46	0	0	0	0.009096	0	4	46		
TP73	7161	broad.mit.edu	37	1	3649318	3649318	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:3649318G>C	ENST00000378295.4	+	14	1741	c.1586G>C	c.(1585-1587)gGg>gCg	p.G529A	TP73_ENST00000378280.1_3'UTR|TP73_ENST00000604074.1_Missense_Mutation_p.G402R|TP73_ENST00000357733.3_Missense_Mutation_p.G448A|TP73_ENST00000603362.1_Missense_Mutation_p.G448A|TP73_ENST00000378285.1_Missense_Mutation_p.G449R|TP73_ENST00000354437.4_Missense_Mutation_p.G498R|TP73_ENST00000378290.4_Missense_Mutation_p.G458A|TP73_ENST00000604479.1_Missense_Mutation_p.G433A|TP73_ENST00000378288.4_Missense_Mutation_p.G480A|TP73_ENST00000346387.4_Missense_Mutation_p.G433A	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	529	SAM.				activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|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)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		CAGGACCTGGGGGCCCTGAAG	0.706																																						uc001akp.2		NaN																	0				ovary(1)|lung(1)	2						c.(1585-1587)GGG>GCG		tumor protein p73 isoform a							17.0	20.0	19.0					1																	3649318		2093	4126	6219	SO:0001583	missense	7161				cellular response to UV|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|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity	g.chr1:3649318G>C	AB055065	CCDS49.1, CCDS44049.1, CCDS44050.1, CCDS44051.1, CCDS55566.1, CCDS55567.1, CCDS55568.1, CCDS55569.1, CCDS59965.1	1p36.3	2010-06-15			ENSG00000078900	ENSG00000078900			12003	protein-coding gene	gene with protein product		601990				9296498, 9288759	Standard	NM_001204186		Approved	P73	uc001akp.3	O15350	OTTHUMG00000000610	ENST00000378295.4:c.1586G>C	1.37:g.3649318G>C	ENSP00000367545:p.Gly529Ala					TP73_uc001akq.2_Intron|TP73_uc001akr.2_Missense_Mutation_p.G480A|TP73_uc009vlk.1_3'UTR|TP73_uc001aks.2_Missense_Mutation_p.G449R|TP73_uc010nzk.1_Missense_Mutation_p.G458A|TP73_uc010nzl.1_Missense_Mutation_p.G78A	p.G529A	NM_005427	NP_005418	O15350	P73_HUMAN		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)	14	1696	+	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)	529			SAM.		B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Missense_Mutation	SNP	ENST00000378295.4	37	c.1586G>C	CCDS49.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.458|2.458	-0.324688|-0.324688	0.05350|0.05350	.|.	.|.	ENSG00000078900|ENSG00000078900	ENST00000378295;ENST00000357733;ENST00000346387;ENST00000378288;ENST00000378290|ENST00000354437;ENST00000378285	D;D;D;D;D|D;D	0.99158|0.99429	-1.77;-5.5;-1.77;-1.77;-1.77|-5.85;-5.89	4.81|4.81	4.81|4.81	0.61882|0.61882	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);|.	0.167399|0.167399	0.52532|0.52532	N|D	0.000075|0.000075	D|D	0.98289|0.98289	0.9433|0.9433	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999994|0.999994	B;B|B	0.22276|0.18968	0.031;0.067|0.032	B;B|B	0.28784|0.20767	0.057;0.094|0.031	D|D	0.97646|0.97646	1.0151|1.0151	9|9	0.39692|0.87932	T|D	0.17|0	-21.7571|-21.7571	14.255|14.255	0.66045|0.66045	0.0:0.1497:0.8503:0.0|0.0:0.1497:0.8503:0.0	.|.	480;529|449	O15350-8;O15350|O15350-9	.;P73_HUMAN|.	A|R	529;448;433;480;458|498;449	ENSP00000367545:G529A;ENSP00000350366:G448A;ENSP00000340740:G433A;ENSP00000367537:G480A;ENSP00000367539:G458A|ENSP00000346423:G498R;ENSP00000367534:G449R	ENSP00000340740:G433A|ENSP00000346423:G498R	G|G	+|+	2|1	0|0	TP73|TP73	3639178|3639178	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.872000|0.872000	0.50106|0.50106	4.208000|4.208000	0.58486|0.58486	2.232000|2.232000	0.73038|0.73038	0.460000|0.460000	0.39030|0.39030	GGG|GGG		0.706	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001468.4		NM_005427		3	20	0	0	0	0.004672	0	3	20		
Unknown	0	broad.mit.edu	37	1	13183780	13183780	+	IGR	SNP	A	A	C	rs116484938	byFrequency	TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:13183780A>C								RP13-221M14.3 (19312 upstream) : PRAMEF26 (32575 downstream)																							CCTCCACATCAGATTTCTTGA	0.468																																						uc010obg.1		NaN																	0					0						c.(91-93)TCT>TCG		heterogeneous nuclear ribonucleoprotein C-like							60.0	43.0	48.0					1																	13183780		690	1587	2277	SO:0001628	intergenic_variant	440563					ribonucleoprotein complex	nucleic acid binding|nucleotide binding	g.chr1:13183780A>C																													1.37:g.13183780A>C							p.S31S	NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN			1	188	-			31						Silent	SNP		37	c.93T>G																																																																																				0	0.468										5	63	0	0	0	0.008291	0	5	63		
Unknown	0	broad.mit.edu	37	1	16134162	16134162	+	IGR	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:16134162G>C								FBLIM1 (21073 upstream) : RP11-169K16.9 (26397 downstream)																							TACGGTTCTAGATTTAACACG	0.493																																						uc009vol.1		NaN																	0					0						c.(-19--15)ATCTA>ATGTA		ubiquinol-cytochrome c reductase hinge							59.0	54.0	56.0					1																	16134162		2203	4300	6503	SO:0001628	intergenic_variant	440567							g.chr1:16134162G>C																													1.37:g.16134162G>C								NM_001089591	NP_001083060					1	33	-									Translation_Start_Site	SNP		37	c.-17C>G																																																																																				0	0.493										10	20	0	0	0	0.006214	0	10	20		
SLC30A2	7780	broad.mit.edu	37	1	26371526	26371526	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:26371526G>C	ENST00000374278.3	-	2	449	c.233C>G	c.(232-234)tCt>tGt	p.S78C	SLC30A2_ENST00000498060.1_5'UTR|SLC30A2_ENST00000374276.3_Missense_Mutation_p.S78C	NM_032513.3	NP_115902.1	Q9BRI3	ZNT2_HUMAN	solute carrier family 30 (zinc transporter), member 2	78					positive regulation of sequestering of zinc ion (GO:0061090)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)	cation transmembrane transporter activity (GO:0008324)			cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGATGGCAGAGGCTACATA	0.527																																						uc001blh.1		NaN																	0					0						c.(232-234)TCT>TGT		solute carrier family 30, member 2 isoform 2							140.0	139.0	140.0					1																	26371526		2203	4300	6503	SO:0001583	missense	7780				positive regulation of sequestering of zinc ion|zinc ion transport	integral to membrane|late endosome|lysosomal membrane	cation transmembrane transporter activity	g.chr1:26371526G>C	AK023491	CCDS272.1, CCDS30644.1	1p35.3	2013-05-22			ENSG00000158014	ENSG00000158014		"""Solute carriers"""	11013	protein-coding gene	gene with protein product		609617		ZNT2			Standard	NM_001004434		Approved		uc001blg.1	Q9BRI3	OTTHUMG00000007508	ENST00000374278.3:c.233C>G	1.37:g.26371526G>C	ENSP00000363396:p.Ser78Cys					SLC30A2_uc001blg.1_Missense_Mutation_p.S78C	p.S78C	NM_032513	NP_115902	Q9BRI3	ZNT2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)	2	450	-		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	78			Cytoplasmic (Potential).		Q71RC8	Missense_Mutation	SNP	ENST00000374278.3	37	c.233C>G	CCDS272.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.480806	0.44044	.	.	ENSG00000158014	ENST00000374278;ENST00000374276	T;T	0.63417	-0.04;-0.04	5.91	4.02	0.46733	.	0.000000	0.64402	D	0.000002	T	0.52821	0.1758	L	0.36672	1.1	0.52501	D	0.99995	B;B	0.20368	0.044;0.016	B;B	0.21151	0.033;0.024	T	0.42515	-0.9447	10	0.27785	T	0.31	-6.4697	15.75	0.77976	0.0:0.2586:0.7414:0.0	.	78;78	Q9BRI3;Q9BRI3-2	ZNT2_HUMAN;.	C	78	ENSP00000363396:S78C;ENSP00000363394:S78C	ENSP00000363394:S78C	S	-	2	0	SLC30A2	26244113	0.998000	0.40836	1.000000	0.80357	0.755000	0.42902	5.473000	0.66774	0.805000	0.34159	0.655000	0.94253	TCT		0.527	SLC30A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019742.1		NM_032513		28	78	0	0	0	0.00632	0	28	78		
PHACTR4	65979	broad.mit.edu	37	1	28817511	28817511	+	Missense_Mutation	SNP	G	G	C	rs573663875		TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:28817511G>C	ENST00000373839.3	+	11	2126	c.1865G>C	c.(1864-1866)cGg>cCg	p.R622P	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Missense_Mutation_p.R632P	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	622					actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		ATTAAACGTCGGCTCACTAGA	0.383																																						uc001bpw.2		NaN																	0					0						c.(1864-1866)CGG>CCG		phosphatase and actin regulator 4 isoform 1							114.0	115.0	115.0					1																	28817511		1893	4116	6009	SO:0001583	missense	65979						actin binding|protein phosphatase inhibitor activity	g.chr1:28817511G>C	AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.1865G>C	1.37:g.28817511G>C	ENSP00000362945:p.Arg622Pro					PHACTR4_uc001bpv.1_RNA|PHACTR4_uc001bpx.2_Missense_Mutation_p.R606P|PHACTR4_uc001bpy.2_Missense_Mutation_p.R632P|PHACTR4_uc001bpz.2_5'Flank	p.R622P	NM_001048183	NP_001041648	Q8IZ21	PHAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)	11	2147	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	622			RPEL 3.		A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Missense_Mutation	SNP	ENST00000373839.3	37	c.1865G>C	CCDS41293.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.231082	0.79688	.	.	ENSG00000204138	ENST00000373839;ENST00000373836	T;T	0.27890	1.64;1.64	5.1	4.18	0.49190	.	0.000000	0.85682	D	0.000000	T	0.53238	0.1784	M	0.71581	2.175	0.58432	D	0.999999	D;D	0.89917	0.99;1.0	D;D	0.91635	0.924;0.999	T	0.56288	-0.8004	10	0.62326	D	0.03	-4.0077	12.8152	0.57660	0.0802:0.0:0.9198:0.0	.	632;622	Q8IZ21-2;Q8IZ21	.;PHAR4_HUMAN	P	622;632	ENSP00000362945:R622P;ENSP00000362942:R632P	ENSP00000362942:R632P	R	+	2	0	PHACTR4	28690098	1.000000	0.71417	0.931000	0.37212	0.945000	0.59286	9.537000	0.98070	1.127000	0.42034	0.313000	0.20887	CGG		0.383	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4		NM_023923		8	25	0	0	0	0.00308	0	8	25		
TMEM234	56063	broad.mit.edu	37	1	32687561	32687561	+	Silent	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:32687561C>T	ENST00000344461.3	-	2	90	c.75G>A	c.(73-75)ctG>ctA	p.L25L	TMEM234_ENST00000373593.1_Silent_p.L25L|TMEM234_ENST00000309777.6_Silent_p.L25L|TMEM234_ENST00000545122.1_Silent_p.L25L|EIF3I_ENST00000373586.1_5'Flank			Q8WY98	TM234_HUMAN	transmembrane protein 234	25						integral component of membrane (GO:0016021)				kidney(2)|lung(3)	5						AGGCCCGCTTCAGCAGCGGCT	0.642																																						uc009vub.1		NaN																	0					0						c.(73-75)CTG>CTA		RecName: Full=UPF0546 membrane protein C1orf91;							33.0	39.0	37.0					1																	32687561		2200	4291	6491	SO:0001819	synonymous_variant	56063					integral to membrane		g.chr1:32687561C>T	AY358586	CCDS356.2	1p36.11-p34.2	2011-02-14	2011-02-14	2011-02-14	ENSG00000160055	ENSG00000160055			28837	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 91"""	C1orf91		12477932	Standard	XM_005271045		Approved	RP4-622L5, dJ622L5.7, FLJ90779	uc001buq.4	Q8WY98	OTTHUMG00000005742	ENST00000344461.3:c.75G>A	1.37:g.32687561C>T						C1orf91_uc001buo.3_RNA|C1orf91_uc001bup.3_RNA|C1orf91_uc010oha.1_RNA|C1orf91_uc001buq.3_Silent_p.L25L|EIF3I_uc001bur.3_5'UTR|EIF3I_uc009vuc.2_5'Flank|EIF3I_uc001bus.2_5'Flank	p.L25L			Q8WY98	TM234_HUMAN			2	78	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	25					B2R535|D3DPP7|Q6UWY9|Q8N2H6|Q9BSR2|Q9NU76	Silent	SNP	ENST00000344461.3	37	c.75G>A																																																																																					0.642	TMEM234-009	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000092260.2		NM_019118		11	25	0	0	0	0.010729	0	11	25		
KIAA0319L	79932	broad.mit.edu	37	1	35915552	35915552	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:35915552C>T	ENST00000325722.3	-	15	2503	c.2269G>A	c.(2269-2271)Gag>Aag	p.E757K	KIAA0319L_ENST00000485551.1_5'UTR|KIAA0319L_ENST00000373266.4_Missense_Mutation_p.E194K	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	757	PKD 5. {ECO:0000255|PROSITE- ProRule:PRU00151}.					cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TAGGTTCCCTCAACCAGGTTT	0.453																																						uc001byx.2		NaN																	0				skin(2)	2						c.(2269-2271)GAG>AAG		dyslexia susceptibility 2-like							146.0	125.0	132.0					1																	35915552		2203	4300	6503	SO:0001583	missense	79932					cytoplasmic vesicle part|integral to membrane	protein binding	g.chr1:35915552C>T	AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.2269G>A	1.37:g.35915552C>T	ENSP00000318406:p.Glu757Lys					KIAA0319L_uc001byw.2_Missense_Mutation_p.E199K|KIAA0319L_uc010ohv.1_Missense_Mutation_p.E399K	p.E757K	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN			15	2527	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	757			PKD 5.|Extracellular (Potential).		B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Missense_Mutation	SNP	ENST00000325722.3	37	c.2269G>A	CCDS390.1	.	.	.	.	.	.	.	.	.	.	C	33	5.272744	0.95429	.	.	ENSG00000142687	ENST00000325722;ENST00000373266;ENST00000426982	T;T;T	0.69685	2.54;-0.42;2.54	5.82	5.82	0.92795	PKD/Chitinase domain (1);Fibronectin, type III (1);PKD/REJ-like protein (1);PKD domain (2);	0.000000	0.85682	D	0.000000	D	0.83280	0.5220	M	0.81341	2.54	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.87578	0.997;0.998;0.994	T	0.82812	-0.0272	10	0.46703	T	0.11	-20.3567	19.0872	0.93209	0.0:1.0:0.0:0.0	.	757;757;199	Q8IZA0-2;Q8IZA0;Q8IZA0-3	.;K319L_HUMAN;.	K	757;194;757	ENSP00000318406:E757K;ENSP00000362363:E194K;ENSP00000395883:E757K	ENSP00000318406:E757K	E	-	1	0	KIAA0319L	35688139	1.000000	0.71417	0.965000	0.40720	0.969000	0.65631	7.578000	0.82498	2.752000	0.94435	0.655000	0.94253	GAG		0.453	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012684.2		NM_024874		35	43	0	0	0	0.015359	0	35	43		
HIVEP3	59269	broad.mit.edu	37	1	41990541	41990541	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:41990541C>T	ENST00000372583.1	-	6	6133	c.5248G>A	c.(5248-5250)Ggc>Agc	p.G1750S	HIVEP3_ENST00000372584.1_Missense_Mutation_p.G1750S|HIVEP3_ENST00000247584.5_Missense_Mutation_p.G1750S|HIVEP3_ENST00000429157.2_Missense_Mutation_p.G1750S|HIVEP3_ENST00000460604.1_Intron	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1750					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TTCCCTCGGCCGCGGCCTCGC	0.502																																						uc001cgz.3		NaN																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(5248-5250)GGC>AGC		human immunodeficiency virus type I enhancer							137.0	117.0	124.0					1																	41990541		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:41990541C>T	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.5248G>A	1.37:g.41990541C>T	ENSP00000361664:p.Gly1750Ser					HIVEP3_uc001cha.3_Missense_Mutation_p.G1750S|HIVEP3_uc001cgy.2_Intron	p.G1750S	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN			6	6461	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	1750					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.5248G>A	CCDS463.1	.	.	.	.	.	.	.	.	.	.	C	35	5.469431	0.96274	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.12984	2.63;2.63;2.63;2.63	4.85	4.85	0.62838	.	0.000000	0.50627	D	0.000104	T	0.41719	0.1171	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.41431	-0.9509	10	0.72032	D	0.01	-19.6194	17.7486	0.88428	0.0:1.0:0.0:0.0	.	1750;1750	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	S	1750	ENSP00000361665:G1750S;ENSP00000361664:G1750S;ENSP00000247584:G1750S;ENSP00000410828:G1750S	ENSP00000247584:G1750S	G	-	1	0	HIVEP3	41763128	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.609000	0.82925	2.520000	0.84964	0.561000	0.74099	GGC		0.502	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1		NM_024503		18	34	0	0	0	0.00499	0	18	34		
NEGR1	257194	broad.mit.edu	37	1	72400821	72400821	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:72400821G>A	ENST00000357731.5	-	2	589	c.350C>T	c.(349-351)aCg>aTg	p.T117M	NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000306821.3_De_novo_Start_InFrame|NEGR1_ENST00000434200.1_Missense_Mutation_p.T115M	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	117	Ig-like C2-type 1.				feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.T117M(1)		endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		AACAGAACACGTGTATGGGCC	0.418																																						uc001dfw.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)	1						c.(349-351)ACG>ATG		neuronal growth regulator 1 precursor							127.0	115.0	119.0					1																	72400821		2203	4300	6503	SO:0001583	missense	257194				cell adhesion	anchored to membrane|plasma membrane		g.chr1:72400821G>A	AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"""Immunoglobulin superfamily / I-set domain containing"""	17302	protein-coding gene	gene with protein product	"""a kindred of IgLON"", ""neurotractin"", ""IgLON family member 4"""	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.350C>T	1.37:g.72400821G>A	ENSP00000350364:p.Thr117Met					NEGR1_uc001dfv.2_Translation_Start_Site|NEGR1_uc010oqs.1_Missense_Mutation_p.T117M	p.T117M	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)	2	450	-		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)	117			Ig-like C2-type 1.		Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Missense_Mutation	SNP	ENST00000357731.5	37	c.350C>T	CCDS661.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.442648	0.83993	.	.	ENSG00000172260	ENST00000357731;ENST00000434200	T;T	0.33865	1.39;1.39	5.71	5.71	0.89125	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.36386	0.0965	L	0.38953	1.18	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	T	0.05022	-1.0911	10	0.06365	T	0.9	-8.7192	19.8408	0.96685	0.0:0.0:1.0:0.0	.	115;117	B4DI94;Q7Z3B1	.;NEGR1_HUMAN	M	117;115	ENSP00000350364:T117M;ENSP00000413294:T115M	ENSP00000350364:T117M	T	-	2	0	NEGR1	72173409	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.699000	0.92147	0.655000	0.94253	ACG		0.418	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026722.4		NM_173808		16	26	0	0	0	0.024245	0	16	26		
TYW3	127253	broad.mit.edu	37	1	75204401	75204401	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:75204401G>A	ENST00000370867.3	+	3	372	c.283G>A	c.(283-285)Gat>Aat	p.D95N	TYW3_ENST00000457880.2_Intron|TYW3_ENST00000479111.1_De_novo_Start_OutOfFrame|TYW3_ENST00000421739.2_Intron	NM_138467.2	NP_612476.1	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)	95					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						AGCAAATGGTGATGCCACTTT	0.378																																						uc001dgn.2		NaN																	0				ovary(2)	2						c.(283-285)GAT>AAT		tRNA-yW synthesizing protein 3 homolog isoform							145.0	137.0	139.0					1																	75204401		2203	4300	6503	SO:0001583	missense	127253				tRNA processing		methyltransferase activity	g.chr1:75204401G>A	BX647591	CCDS666.1, CCDS53334.1	1p31.1	2008-02-05	2006-05-25	2006-05-25	ENSG00000162623	ENSG00000162623			24757	protein-coding gene	gene with protein product		611245	"""chromosome 1 open reading frame 171"""	C1orf171		17150819	Standard	NM_138467		Approved	FLJ40918	uc001dgn.3	Q6IPR3	OTTHUMG00000009641	ENST00000370867.3:c.283G>A	1.37:g.75204401G>A	ENSP00000359904:p.Asp95Asn					TYW3_uc010oqw.1_Intron|TYW3_uc010oqx.1_Intron|TYW3_uc010oqy.1_RNA	p.D95N	NM_138467	NP_612476	Q6IPR3	TYW3_HUMAN			3	372	+			95					B4DSP9|E9PGR7|Q5HYJ0|Q8N7L1	Missense_Mutation	SNP	ENST00000370867.3	37	c.283G>A	CCDS666.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.394980	0.42512	.	.	ENSG00000162623	ENST00000370867	T	0.30182	1.54	6.16	6.16	0.99307	tRNA wybutosine-synthesizing protein (2);	0.082148	0.85682	D	0.000000	T	0.25865	0.0630	M	0.76838	2.35	0.80722	D	1	B	0.23128	0.08	B	0.25759	0.063	T	0.12041	-1.0563	10	0.16896	T	0.51	-13.9277	19.6313	0.95704	0.0:0.0:1.0:0.0	.	95	Q6IPR3	TYW3_HUMAN	N	95	ENSP00000359904:D95N	ENSP00000359904:D95N	D	+	1	0	TYW3	74976989	1.000000	0.71417	0.953000	0.39169	0.020000	0.10135	3.574000	0.53863	2.937000	0.99478	0.650000	0.86243	GAT		0.378	TYW3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026573.1		NM_138467		9	16	0	0	0	0.004482	0	9	16		
GBP1	2633	broad.mit.edu	37	1	89528910	89528910	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:89528910G>A	ENST00000370473.4	-	2	227	c.8C>T	c.(7-9)tCa>tTa	p.S3L		NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	3	GTPase domain (Globular).				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)	cytosol (GO:0005829)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		GTGGATCTCTGATGCCATGTC	0.453																																						uc001dmx.2		NaN																	0				ovary(1)|skin(1)	2						c.(7-9)TCA>TTA		guanylate binding protein 1,							107.0	100.0	103.0					1																	89528910		2203	4300	6503	SO:0001583	missense	2633				interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	g.chr1:89528910G>A	BC002666	CCDS718.1	1p22.2	2011-03-09	2011-03-09		ENSG00000117228	ENSG00000117228			4182	protein-coding gene	gene with protein product		600411	"""guanylate binding protein 1, interferon-inducible, 67kDa"""			7518790	Standard	NM_002053		Approved		uc001dmx.2	P32455	OTTHUMG00000010614	ENST00000370473.4:c.8C>T	1.37:g.89528910G>A	ENSP00000359504:p.Ser3Leu						p.S3L	NM_002053	NP_002044	P32455	GBP1_HUMAN		all cancers(265;0.0156)|Epithelial(280;0.0291)	2	228	-		Lung NSC(277;0.123)	3					D3DT26|Q5T8M1	Missense_Mutation	SNP	ENST00000370473.4	37	c.8C>T	CCDS718.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.850302	0.32699	.	.	ENSG00000117228	ENST00000370473	T	0.63913	-0.07	4.32	3.38	0.38709	.	0.456716	0.19875	N	0.104111	T	0.32496	0.0831	L	0.45352	1.415	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.26916	-1.0089	10	0.41790	T	0.15	.	10.3299	0.43816	0.1016:0.0:0.8984:0.0	.	3	P32455	GBP1_HUMAN	L	3	ENSP00000359504:S3L	ENSP00000359504:S3L	S	-	2	0	GBP1	89301498	0.012000	0.17670	0.003000	0.11579	0.004000	0.04260	1.865000	0.39479	0.774000	0.33427	0.313000	0.20887	TCA		0.453	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029289.3		NM_002053		28	60	0	0	0	0.00632	0	28	60		
TRIM33	51592	broad.mit.edu	37	1	114940612	114940612	+	Splice_Site	SNP	T	T	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:114940612T>C	ENST00000358465.2	-	19	3204	c.3121A>G	c.(3121-3123)Atg>Gtg	p.M1041V	TRIM33_ENST00000450349.2_Splice_Site_p.M673V|TRIM33_ENST00000369543.2_Intron	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	1041	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACTTTCATCATCTAAAAAGGA	0.343			T	RET	papillary thyroid																																	uc001eew.2		NaN		Dom	yes		1	1p13	51592	T	""" tripartite motif-containing 33 (PTC7,TIF1G)"""			E	RET		papillary thyroid		0				lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	11						c.(3121-3123)ATG>GTG		tripartite motif-containing 33 protein isoform							123.0	122.0	122.0					1																	114940612		2203	4300	6503	SO:0001630	splice_region_variant	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:114940612T>C	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.3121-1A>G	1.37:g.114940612T>C						TRIM33_uc010owr.1_Missense_Mutation_p.M655V|TRIM33_uc010ows.1_Missense_Mutation_p.M673V|TRIM33_uc001eex.2_Intron	p.M1041V	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	19	3205	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	1041			Bromo.		O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Missense_Mutation	SNP	ENST00000358465.2	37	c.3121A>G	CCDS872.1	.	.	.	.	.	.	.	.	.	.	T	14.66	2.601510	0.46423	.	.	ENSG00000197323	ENST00000358465;ENST00000450349	T;T	0.28069	1.63;1.63	5.3	5.3	0.74995	Bromodomain (6);	0.000000	0.85682	D	0.000000	T	0.21387	0.0515	N	0.02708	-0.52	0.80722	D	1	B;B;P	0.44776	0.239;0.053;0.843	B;B;D	0.64506	0.151;0.076;0.926	T	0.49624	-0.8920	10	0.59425	D	0.04	-11.0902	15.5474	0.76118	0.0:0.0:0.0:1.0	.	673;673;1041	E7EN20;B3KN30;Q9UPN9	.;.;TRI33_HUMAN	V	1041;673	ENSP00000351250:M1041V;ENSP00000412077:M673V	ENSP00000351250:M1041V	M	-	1	0	TRIM33	114742135	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.114000	0.77103	2.138000	0.66242	0.528000	0.53228	ATG		0.343	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1		NM_015906	Missense_Mutation	22	52	0	0	0	0.010504	0	22	52		
NGF	4803	broad.mit.edu	37	1	115829160	115829160	+	Missense_Mutation	SNP	C	C	T	rs200629339		TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:115829160C>T	ENST00000369512.2	-	3	425	c.257G>A	c.(256-258)cGt>cAt	p.R86H	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	86					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|adult locomotory behavior (GO:0008344)|apoptotic signaling pathway (GO:0097190)|circadian rhythm (GO:0007623)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|nerve growth factor processing (GO:0032455)|neuron apoptotic process (GO:0051402)|neuron projection morphogenesis (GO:0048812)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotrophin TRK receptor signaling pathway (GO:0051388)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|Ras protein signal transduction (GO:0007265)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of neurotransmitter secretion (GO:0046928)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)	nerve growth factor receptor binding (GO:0005163)|receptor signaling protein activity (GO:0005057)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	AAACAGCACACGGGGTGAACG	0.632																																						uc001efu.1		NaN																	0				upper_aerodigestive_tract(2)	2						c.(256-258)CGT>CAT		nerve growth factor, beta polypeptide precursor	Clenbuterol(DB01407)	C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	41.0	45.0	44.0		257	5.1	1.0	1		44	0,8600		0,0,4300	yes	missense	NGF	NM_002506.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	86/242	115829160	1,13005	2203	4300	6503	SO:0001583	missense	4803				activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding	g.chr1:115829160C>T		CCDS882.1	1p13.1	2014-09-17	2008-02-07	2008-02-07	ENSG00000134259	ENSG00000134259		"""Endogenous ligands"""	7808	protein-coding gene	gene with protein product		162030		NGFB			Standard	XM_006710663		Approved		uc001efu.1	P01138	OTTHUMG00000011880	ENST00000369512.2:c.257G>A	1.37:g.115829160C>T	ENSP00000358525:p.Arg86His						p.R86H	NM_002506	NP_002497	P01138	NGF_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	3	426	-	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)	86					A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	Missense_Mutation	SNP	ENST00000369512.2	37	c.257G>A	CCDS882.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.677769	0.88445	2.27E-4	0.0	ENSG00000134259	ENST00000369512	T	0.79141	-1.24	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.88407	0.6428	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90205	0.4260	10	0.87932	D	0	-19.4784	17.5672	0.87923	0.0:1.0:0.0:0.0	.	86	P01138	NGF_HUMAN	H	86	ENSP00000358525:R86H	ENSP00000358525:R86H	R	-	2	0	NGF	115630683	1.000000	0.71417	0.979000	0.43373	0.773000	0.43773	7.739000	0.84976	2.507000	0.84556	0.467000	0.42956	CGT		0.632	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032832.1		NM_002506		11	30	0	0	0	0.008291	0	11	30		
NOTCH2	4853	broad.mit.edu	37	1	120462189	120462189	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:120462189C>G	ENST00000256646.2	-	31	5746	c.5527G>C	c.(5527-5529)Gat>Cat	p.D1843H	NOTCH2_ENST00000493703.1_5'Flank	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1843					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCACTCAAATCTGAGCTGCCT	0.498			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													uc001eik.2		NaN		Dom	yes		1	1p13-p11	4853	N|F|Mis	Notch homolog 2			L			marginal zone lymphoma|DLBCL		0				lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27						c.(5527-5529)GAT>CAT		notch 2 preproprotein							51.0	44.0	46.0					1																	120462189		2203	4300	6503	SO:0001583	missense	4853	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120462189C>G	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.5527G>C	1.37:g.120462189C>G	ENSP00000256646:p.Asp1843His						p.D1843H	NM_024408	NP_077719	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	31	5783	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	1843			Cytoplasmic (Potential).|ANK 1.		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.5527G>C	CCDS908.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.253794	0.39896	.	.	ENSG00000134250	ENST00000256646	D	0.83506	-1.73	5.84	5.84	0.93424	Ankyrin repeat-containing domain (3);	0.000000	0.38837	U	0.001552	T	0.72260	0.3438	L	0.51422	1.61	0.43091	D	0.994763	B	0.19583	0.037	B	0.12156	0.007	T	0.71998	-0.4423	10	0.72032	D	0.01	.	14.7001	0.69150	0.0:0.8555:0.1445:0.0	.	1843	Q04721	NOTC2_HUMAN	H	1843	ENSP00000256646:D1843H	ENSP00000256646:D1843H	D	-	1	0	NOTCH2	120263712	0.997000	0.39634	0.996000	0.52242	0.927000	0.56198	3.689000	0.54706	2.779000	0.95612	0.655000	0.94253	GAT		0.498	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1		NM_024408		7	14	0	0	0	0.00308	0	7	14		
RPTN	126638	broad.mit.edu	37	1	152127966	152127966	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:152127966G>T	ENST00000316073.3	-	3	1673	c.1609C>A	c.(1609-1611)Cag>Aag	p.Q537K		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	537	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CTGTCCATCTGACTGTAGTGG	0.532																																						uc001ezs.1		NaN																	0					0						c.(1609-1611)CAG>AAG		repetin							787.0	691.0	720.0					1																	152127966		1568	3582	5150	SO:0001583	missense	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152127966G>T	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1609C>A	1.37:g.152127966G>T	ENSP00000317895:p.Gln537Lys						p.Q537K	NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN			3	1674	-			537			Gln-rich.		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.1609C>A	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.917933	0.52546	.	.	ENSG00000215853	ENST00000316073;ENST00000541545	T	0.14766	2.48	4.58	4.58	0.56647	.	0.000000	0.31450	U	0.007623	T	0.20251	0.0487	M	0.82630	2.6	0.25293	N	0.989346	D	0.63046	0.992	P	0.60286	0.872	T	0.20806	-1.0264	10	0.15952	T	0.53	-6.9184	14.8488	0.70281	0.0:0.0:1.0:0.0	.	537	Q6XPR3	RPTN_HUMAN	K	537;192	ENSP00000317895:Q537K	ENSP00000317895:Q537K	Q	-	1	0	RPTN	150394590	0.004000	0.15560	0.252000	0.24328	0.005000	0.04900	0.969000	0.29370	2.053000	0.61076	0.453000	0.30009	CAG		0.532	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1		XM_371312		251	468	1	0	4.53783e-81	0.01441	4.95855e-81	251	468		
OR6N2	81442	broad.mit.edu	37	1	158747279	158747279	+	Silent	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:158747279G>A	ENST00000339258.1	-	1	146	c.147C>T	c.(145-147)atC>atT	p.I49I		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	49						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					CATCCAGTCGGATGACTGAGA	0.483																																						uc010pir.1		NaN																	0					0						c.(145-147)ATC>ATT		olfactory receptor, family 6, subfamily N,							152.0	143.0	146.0					1																	158747279		2203	4300	6503	SO:0001819	synonymous_variant	81442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158747279G>A	BK004200	CCDS30906.1	1q23.1	2012-08-09			ENSG00000188340	ENSG00000188340		"""GPCR / Class A : Olfactory receptors"""	15035	protein-coding gene	gene with protein product							Standard	NM_001005278		Approved		uc010pir.2	Q8NGY6	OTTHUMG00000022775	ENST00000339258.1:c.147C>T	1.37:g.158747279G>A							p.I49I	NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN			1	147	-	all_hematologic(112;0.0378)		49			Cytoplasmic (Potential).		Q6IFR2	Silent	SNP	ENST00000339258.1	37	c.147C>T	CCDS30906.1																																																																																				0.483	OR6N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059068.1				25	77	0	0	0	0.01892	0	25	77		
FCRLB	127943	broad.mit.edu	37	1	161697272	161697272	+	Silent	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:161697272G>A	ENST00000367948.2	+	8	1316	c.1101G>A	c.(1099-1101)ctG>ctA	p.L367L	FCRLB_ENST00000367945.1_Silent_p.*312*|FCRLB_ENST00000495397.1_3'UTR|FCRLB_ENST00000367946.3_Silent_p.*319*|FCRLB_ENST00000392158.1_Silent_p.L367L|FCRLB_ENST00000336830.5_3'UTR|FCRLB_ENST00000367944.3_3'UTR			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	367					negative regulation of immune response (GO:0050777)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			CTGGAGCCCTGAAACCCGACG	0.682																																						uc001gbh.2		NaN																	0					0						c.(1099-1101)CTG>CTA		Fc receptor-like B							35.0	39.0	38.0					1																	161697272		2200	4295	6495	SO:0001819	synonymous_variant	127943					endoplasmic reticulum		g.chr1:161697272G>A	AY670683	CCDS30927.1, CCDS72962.1, CCDS72963.1, CCDS72964.1, CCDS72965.1	1q23.3	2013-01-11	2006-09-26	2006-09-26	ENSG00000162746	ENSG00000162746		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26431	protein-coding gene	gene with protein product		609251	"""Fc receptor-like and mucin-like 2"""	FCRLM2		15676285	Standard	NM_001288829		Approved	FLJ31052, FCRL2, FREB-2, FCRLY	uc001gbi.3	Q6BAA4	OTTHUMG00000133629	ENST00000367948.2:c.1101G>A	1.37:g.161697272G>A						FCRLB_uc009wus.2_Silent_p.L367L|FCRLB_uc001gbj.2_Silent_p.*319*|FCRLB_uc001gbk.2_3'UTR|FCRLB_uc001gbl.2_Silent_p.*312*|FCRLB_uc001gbm.2_3'UTR|FCRLB_uc001gbi.2_Silent_p.L367L|FCRLB_uc001gbn.3_3'UTR	p.L367L	NM_001002901	NP_001002901	Q6BAA4	FCRLB_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00634)		8	1335	+	all_hematologic(112;0.0359)		367					A2A3J5|A2A3J7|Q5VXA6|Q6BAA0|Q6BAA1|Q6BAA2|Q6BAA3|Q8IXZ7	Silent	SNP	ENST00000367948.2	37	c.1101G>A	CCDS30927.1																																																																																				0.682	FCRLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083585.1		NM_152378		16	29	0	0	0	0.00499	0	16	29		
MAEL	84944	broad.mit.edu	37	1	166959001	166959001	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:166959001T>C	ENST00000367872.4	+	2	404	c.160T>C	c.(160-162)Tac>Cac	p.Y54H	MAEL_ENST00000367870.2_Intron	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	54					cell differentiation (GO:0030154)|cell morphogenesis (GO:0000902)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|piRNA metabolic process (GO:0034587)|regulation of organ growth (GO:0046620)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	autosome (GO:0030849)|chromatin (GO:0000785)|chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|perinuclear region of cytoplasm (GO:0048471)|piP-body (GO:0071547)|XY body (GO:0001741)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						AAAGGAGAAATACGCAGAAAT	0.552																																						uc001gdy.1		NaN																	0				skin(1)	1						c.(160-162)TAC>CAC		maelstrom homolog							28.0	34.0	32.0					1																	166959001		2203	4300	6503	SO:0001583	missense	84944				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding	g.chr1:166959001T>C	AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194			25929	protein-coding gene	gene with protein product	"""cancer/testis antigen 128"", ""spermatogenesis associated 35"""	611368	"""maelstrom homolog (Drosophila)"""			19693694, 18694567	Standard	NM_001286378		Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.160T>C	1.37:g.166959001T>C	ENSP00000356846:p.Tyr54His					MAEL_uc001gdz.1_Intron|MAEL_uc009wvf.1_5'Flank	p.Y54H	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN			2	231	+			54			HMG box.		B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Missense_Mutation	SNP	ENST00000367872.4	37	c.160T>C	CCDS1257.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.150672	0.78001	.	.	ENSG00000143194	ENST00000367872	T	0.67171	-0.25	5.18	5.18	0.71444	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (1);Domain of unknown function DUF1898 (1);	0.000000	0.51477	D	0.000091	T	0.64204	0.2577	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72408	-0.4303	10	0.87932	D	0	.	14.016	0.64525	0.0:0.0:0.0:1.0	.	54	Q96JY0	MAEL_HUMAN	H	54	ENSP00000356846:Y54H	ENSP00000356846:Y54H	Y	+	1	0	MAEL	165225625	1.000000	0.71417	0.992000	0.48379	0.988000	0.76386	5.017000	0.64047	1.958000	0.56883	0.383000	0.25322	TAC		0.552	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083239.1		NM_032858		5	8	0	0	0	0.021553	0	5	8		
AXDND1	126859	broad.mit.edu	37	1	179399689	179399689	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:179399689G>C	ENST00000367618.3	+	14	1822	c.1435G>C	c.(1435-1437)Gag>Cag	p.E479Q	AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Missense_Mutation_p.E479Q	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	479										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						GTCTACAAGCGAGACACTGAA	0.368																																						uc001gmo.2		NaN																	0					0						c.(1435-1437)GAG>CAG		hypothetical protein LOC126859 isoform 1							104.0	101.0	102.0					1																	179399689		2203	4300	6503	SO:0001583	missense	126859							g.chr1:179399689G>C	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.1435G>C	1.37:g.179399689G>C	ENSP00000356590:p.Glu479Gln					C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmn.1_Missense_Mutation_p.E267Q|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.E479Q	p.E479Q	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN			14	1562	+			479			Potential.		Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	c.1435G>C	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	G	9.058	0.993842	0.19043	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000457238;ENST00000434088	T;T;T	0.49139	2.09;0.79;2.1	5.09	1.96	0.26148	.	0.168093	0.51477	N	0.000096	T	0.38054	0.1026	L	0.54323	1.7	0.09310	N	1	B;B;B	0.21452	0.024;0.007;0.056	B;B;B	0.17433	0.018;0.007;0.013	T	0.26360	-1.0105	10	0.39692	T	0.17	-1.2421	7.5919	0.28025	0.0918:0.3148:0.5935:0.0	.	437;479;479	E9PCJ4;Q5T1B0;F5GWM2	.;AXDN1_HUMAN;.	Q	479;437;479;413	ENSP00000356590:E479Q;ENSP00000416712:E479Q;ENSP00000391716:E413Q	ENSP00000353471:E437Q	E	+	1	0	AXDND1	177666312	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-0.360000	0.07622	0.631000	0.30412	0.460000	0.39030	GAG		0.368	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1		NM_144696		18	47	0	0	0	0.00499	0	18	47		
LHX4	89884	broad.mit.edu	37	1	180243439	180243439	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:180243439C>G	ENST00000263726.2	+	6	1142	c.898C>G	c.(898-900)Cag>Gag	p.Q300E	RP5-1180C10.2_ENST00000440959.2_RNA|RP5-1180C10.2_ENST00000415414.1_RNA	NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	300					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						ACAATCCTATCAGGACTTGAG	0.542																																						uc001goe.1		NaN																	0				ovary(1)	1						c.(898-900)CAG>GAG		LIM homeobox protein 4							132.0	118.0	122.0					1																	180243439		2203	4300	6503	SO:0001583	missense	89884					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:180243439C>G	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.898C>G	1.37:g.180243439C>G	ENSP00000263726:p.Gln300Glu					uc001gof.1_Intron	p.Q300E	NM_033343	NP_203129	Q969G2	LHX4_HUMAN			6	1121	+			300					Q8NHE0|Q8NHM1|Q8TCJ1|Q8WWX2|Q969W2	Missense_Mutation	SNP	ENST00000263726.2	37	c.898C>G	CCDS1338.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957054	0.53293	.	.	ENSG00000121454	ENST00000263726	D	0.87887	-2.31	5.53	5.53	0.82687	.	0.057191	0.64402	D	0.000001	D	0.82486	0.5047	L	0.36672	1.1	0.53005	D	0.999966	B	0.22480	0.07	B	0.20184	0.028	T	0.76974	-0.2760	10	0.24483	T	0.36	.	18.2358	0.89949	0.0:1.0:0.0:0.0	.	300	Q969G2	LHX4_HUMAN	E	300	ENSP00000263726:Q300E	ENSP00000263726:Q300E	Q	+	1	0	LHX4	178510062	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.522000	0.67092	2.593000	0.87608	0.655000	0.94253	CAG		0.542	LHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084995.2		NM_033343		40	81	0	0	0	0.025465	0	40	81		
RGL1	23179	broad.mit.edu	37	1	183895257	183895257	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:183895257C>T	ENST00000360851.3	+	18	2316	c.2138C>T	c.(2137-2139)tCa>tTa	p.S713L	RGL1_ENST00000536277.1_Missense_Mutation_p.S711L|RGL1_ENST00000539189.1_Missense_Mutation_p.S684L|RGL1_ENST00000304685.4_Missense_Mutation_p.S748L			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	713	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						ATTCCAGACTCAGCAAATGTC	0.443																																						uc001gqo.2		NaN																	0				breast(5)|ovary(4)|lung(2)	11						c.(2137-2139)TCA>TTA		ral guanine nucleotide dissociation							108.0	105.0	106.0					1																	183895257		2203	4300	6503	SO:0001583	missense	23179				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	g.chr1:183895257C>T	AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.2138C>T	1.37:g.183895257C>T	ENSP00000354097:p.Ser713Leu					RGL1_uc001gqm.2_Missense_Mutation_p.S748L|RGL1_uc010pog.1_Missense_Mutation_p.S711L|RGL1_uc010poh.1_Missense_Mutation_p.S711L|RGL1_uc010poi.1_Missense_Mutation_p.S684L	p.S713L	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN			18	2295	+			713			Ras-associating.		Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Missense_Mutation	SNP	ENST00000360851.3	37	c.2138C>T		.	.	.	.	.	.	.	.	.	.	C	13.83	2.354454	0.41700	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000360851;ENST00000539189	T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22	5.37	5.37	0.77165	Ras-association (3);	0.168972	0.50627	D	0.000106	T	0.14270	0.0345	L	0.34521	1.04	0.41118	D	0.985795	B;B;B;B	0.19935	0.029;0.04;0.04;0.04	B;B;B;B	0.23419	0.046;0.042;0.025;0.042	T	0.03852	-1.0998	10	0.87932	D	0	.	9.2793	0.37718	0.2589:0.6076:0.1335:0.0	.	684;711;713;748	F5H6U6;B7Z2W5;Q9NZL6;Q5SXQ6	.;.;RGL1_HUMAN;.	L	748;748;711;713;684	ENSP00000303192:S748L;ENSP00000356501:S748L;ENSP00000438662:S711L;ENSP00000354097:S713L;ENSP00000437355:S684L	ENSP00000303192:S748L	S	+	2	0	RGL1	182161880	0.996000	0.38824	0.960000	0.40013	0.756000	0.42949	3.398000	0.52579	2.666000	0.90696	0.650000	0.86243	TCA		0.443	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1		NM_015149		14	47	0	0	0	0.016723	0	14	47		
PTGS2	5743	broad.mit.edu	37	1	186643532	186643532	+	Missense_Mutation	SNP	C	C	T	rs373482960		TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:186643532C>T	ENST00000367468.5	-	10	1904	c.1768G>A	c.(1768-1770)Gat>Aat	p.D590N	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	590					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	GGATTGATATCATCTAGTCCG	0.368																																						uc001gsb.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1768-1770)GAT>AAT		prostaglandin-endoperoxide synthase 2 precursor	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	C	ASN/ASP	0,4406		0,0,2203	103.0	98.0	100.0		1768	5.5	0.7	1		100	1,8599	1.2+/-3.3	0,1,4299	no	missense	PTGS2	NM_000963.2	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	590/605	186643532	1,13005	2203	4300	6503	SO:0001583	missense	5743				cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr1:186643532C>T	D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.1768G>A	1.37:g.186643532C>T	ENSP00000356438:p.Asp590Asn					PTGS2_uc009wyo.2_Missense_Mutation_p.D437N	p.D590N	NM_000963	NP_000954	P35354	PGH2_HUMAN			10	1905	-			590					A8K802|Q16876	Missense_Mutation	SNP	ENST00000367468.5	37	c.1768G>A	CCDS1371.1	.	.	.	.	.	.	.	.	.	.	C	9.363	1.068570	0.20067	0.0	1.16E-4	ENSG00000073756	ENST00000367468	T	0.60548	0.18	5.49	5.49	0.81192	.	0.130333	0.64402	D	0.000007	T	0.36193	0.0958	N	0.08118	0	0.46654	D	0.99914	B	0.14012	0.009	B	0.11329	0.006	T	0.20638	-1.0269	10	0.23302	T	0.38	-30.2904	12.6803	0.56918	0.0:0.9246:0.0:0.0754	.	590	P35354	PGH2_HUMAN	N	590	ENSP00000356438:D590N	ENSP00000356438:D590N	D	-	1	0	PTGS2	184910155	0.993000	0.37304	0.744000	0.31058	0.058000	0.15608	3.064000	0.49986	2.565000	0.86533	0.650000	0.86243	GAT		0.368	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086157.2		NM_000963		26	52	0	0	0	0.01892	0	26	52		
FAM58BP	339521	broad.mit.edu	37	1	200183226	200183226	+	IGR	SNP	C	C	T	rs543927348		TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:200183226C>T								NR5A2 (36674 upstream) : RP11-532L16.3 (101336 downstream)																							GGCCCTGCTGCGGGACAGCTA	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		17510	0.001		0.0	False		,,,				2504	0.0					uc009wzi.1		NaN																	0					0						c.(535-537)CGG>TGG		family with sequence similarity 58 member B							33.0	35.0	34.0					1																	200183226		2203	4299	6502	SO:0001628	intergenic_variant	339521				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding	g.chr1:200183226C>T																													1.37:g.200183226C>T							p.R179W	NM_001105517	NP_001098987	P0C7Q3	FA58B_HUMAN			1	571	+	Prostate(682;0.19)		179						Missense_Mutation	SNP		37	c.535C>T																																																																																				0	0.637										10	37	0	0	0	0.006214	0	10	37		
SPATA17	128153	broad.mit.edu	37	1	217804728	217804728	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:217804728C>G	ENST00000366933.4	+	1	63	c.8C>G	c.(7-9)aCg>aGg	p.T3R	GPATCH2_ENST00000366934.3_5'Flank|GPATCH2_ENST00000366935.3_5'Flank	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	3						cytoplasm (GO:0005737)		p.T3M(1)		endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		ACCATGGCCACGTTAGCCCGG	0.527																																						uc001hlh.1		NaN																	1	Substitution - Missense(1)		large_intestine(1)	pancreas(1)	1						c.(7-9)ACG>AGG		spermatogenesis associated 17							89.0	78.0	82.0					1																	217804728		2203	4300	6503	SO:0001583	missense	128153					cytoplasm	calmodulin binding	g.chr1:217804728C>G	AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814			25184	protein-coding gene	gene with protein product	"""IQ motif containing H"""	611032				16395525	Standard	NM_138796		Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.8C>G	1.37:g.217804728C>G	ENSP00000355900:p.Thr3Arg					GPATCH2_uc001hlf.1_5'Flank|SPATA17_uc009xdr.1_RNA|SPATA17_uc001hli.2_Missense_Mutation_p.T3R|GPATCH2_uc001hlg.3_5'Flank	p.T3R	NM_138796	NP_620151	Q96L03	SPT17_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)	1	34	+			3					A5D6N2	Missense_Mutation	SNP	ENST00000366933.4	37	c.8C>G	CCDS1519.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.233526	0.39498	.	.	ENSG00000162814	ENST00000366933	T	0.45276	0.9	4.47	4.47	0.54385	.	0.449335	0.24039	N	0.042101	T	0.50274	0.1606	L	0.39633	1.23	0.35627	D	0.809938	D	0.63880	0.993	P	0.60949	0.881	T	0.55945	-0.8060	10	0.33940	T	0.23	-16.9161	14.3534	0.66719	0.0:1.0:0.0:0.0	.	3	Q96L03	SPT17_HUMAN	R	3	ENSP00000355900:T3R	ENSP00000355900:T3R	T	+	2	0	SPATA17	215871351	0.989000	0.36119	0.984000	0.44739	0.699000	0.40488	3.314000	0.51943	2.473000	0.83533	0.655000	0.94253	ACG		0.527	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092433.2		NM_138796		5	20	0	0	0	0.014758	0	5	20		
PCNXL2	80003	broad.mit.edu	37	1	233363102	233363102	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:233363102G>C	ENST00000258229.9	-	10	2608	c.2374C>G	c.(2374-2376)Ctg>Gtg	p.L792V	PCNXL2_ENST00000430153.1_Missense_Mutation_p.L91V	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	792						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GAGGCTTCCAGATCCTGACTC	0.358																																						uc001hvl.2		NaN																	0				central_nervous_system(1)|pancreas(1)	2						c.(2374-2376)CTG>GTG		pecanex-like 2							71.0	67.0	68.0					1																	233363102		1834	4095	5929	SO:0001583	missense	80003					integral to membrane		g.chr1:233363102G>C	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.2374C>G	1.37:g.233363102G>C	ENSP00000258229:p.Leu792Val					PCNXL2_uc009xfu.2_Intron|PCNXL2_uc009xfv.1_Intron|PCNXL2_uc001hvq.1_Missense_Mutation_p.L91V	p.L792V	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN			10	2609	-		all_cancers(173;0.0347)|Prostate(94;0.137)	792					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	c.2374C>G	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.148407	0.37923	.	.	ENSG00000135749	ENST00000258229;ENST00000430153	T;T	0.67171	-0.25;-0.25	5.13	4.21	0.49690	.	.	.	.	.	T	0.59155	0.2173	L	0.50333	1.59	0.26843	N	0.96834	P;P	0.37207	0.587;0.512	B;B	0.36464	0.225;0.15	T	0.47355	-0.9124	9	0.15952	T	0.53	.	13.0961	0.59192	0.0:0.0:0.7083:0.2917	.	91;792	A6NKB5-2;A6NKB5	.;PCX2_HUMAN	V	792;91	ENSP00000258229:L792V;ENSP00000394703:L91V	ENSP00000258229:L792V	L	-	1	2	PCNXL2	231429725	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	1.503000	0.35715	1.277000	0.44412	0.655000	0.94253	CTG		0.358	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3		NM_014801		15	20	0	0	0	0.020292	0	15	20		
OR2M7	391196	broad.mit.edu	37	1	248487244	248487244	+	Silent	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:248487244G>A	ENST00000317965.2	-	1	655	c.627C>T	c.(625-627)ttC>ttT	p.F209F		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	209						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(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTGCAACAGGGAAAACAAGCA	0.418																																						uc010pzk.1		NaN																	0				skin(2)	2						c.(625-627)TTC>TTT		olfactory receptor, family 2, subfamily M,							310.0	294.0	299.0					1																	248487244		2203	4300	6503	SO:0001819	synonymous_variant	391196				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248487244G>A	BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"""GPCR / Class A : Olfactory receptors"""	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.627C>T	1.37:g.248487244G>A							p.F209F	NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	627	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		209			Helical; Name=5; (Potential).		B2RNL0|Q6IEX6	Silent	SNP	ENST00000317965.2	37	c.627C>T	CCDS31111.1																																																																																				0.418	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097357.1		NM_001004691		87	201	0	0	0	0.01441	0	87	201		
CELF2	10659	broad.mit.edu	37	10	11367804	11367804	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr10:11367804G>C	ENST00000379261.4	+	12	1353	c.1261G>C	c.(1261-1263)Gag>Cag	p.E421Q	CELF2_ENST00000450189.1_Missense_Mutation_p.E434Q|CELF2_ENST00000417956.2_Missense_Mutation_p.E401Q|CELF2_ENST00000537122.1_Missense_Mutation_p.E316Q|CELF2_ENST00000608830.1_Missense_Mutation_p.E401Q|CELF2_ENST00000354440.2_Missense_Mutation_p.E403Q|CELF2_ENST00000354897.3_Missense_Mutation_p.E415Q|CELF2_ENST00000315874.4_Missense_Mutation_p.E403Q|CELF2_ENST00000427450.1_Missense_Mutation_p.E403Q|CELF2_ENST00000416382.2_Missense_Mutation_p.E421Q|CELF2_ENST00000542579.1_Missense_Mutation_p.E434Q|CELF2_ENST00000399850.3_Missense_Mutation_p.E403Q|CELF2_ENST00000609692.1_Intron	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	421	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.E422K(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						CTTAGGTCCAGAGGGGGCAAA	0.418																																						uc001iki.3		NaN																	1	Substitution - Missense(1)		skin(1)		0						c.(1261-1263)GAG>CAG		CUG triplet repeat, RNA binding protein 2							90.0	83.0	85.0					10																	11367804		1847	4103	5950	SO:0001583	missense	10659				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr10:11367804G>C	U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"""RNA binding motif (RRM) containing"""	2550	protein-coding gene	gene with protein product		602538	"""CUG triplet repeat, RNA-binding protein 2"", ""CUG triplet repeat, RNA binding protein 2"""	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.1261G>C	10.37:g.11367804G>C	ENSP00000368563:p.Glu421Gln					CELF2_uc010qbj.1_Missense_Mutation_p.E427Q|CELF2_uc001ikk.2_Missense_Mutation_p.E446Q|CELF2_uc001ikl.3_Missense_Mutation_p.E434Q|CELF2_uc010qbl.1_Missense_Mutation_p.E397Q|CELF2_uc010qbm.1_Missense_Mutation_p.E193Q|CELF2_uc001iko.3_Missense_Mutation_p.E401Q|CELF2_uc001ikp.3_Missense_Mutation_p.E403Q|CELF2_uc010qbn.1_Missense_Mutation_p.E409Q|CELF2_uc010qbo.1_Missense_Mutation_p.E316Q|CELF2_uc010qbp.1_Missense_Mutation_p.E193Q	p.E421Q	NM_001025077	NP_001020248	O95319	CELF2_HUMAN			12	1353	+			421			Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.		B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Missense_Mutation	SNP	ENST00000379261.4	37	c.1261G>C	CCDS44354.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.696372	0.88830	.	.	ENSG00000048740	ENST00000379261;ENST00000416382;ENST00000450189;ENST00000542579;ENST00000399850;ENST00000417956;ENST00000315874;ENST00000354440;ENST00000354897;ENST00000427450;ENST00000537122;ENST00000538632	T;T;T;T;T;T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11;0.11;0.11;0.11;0.11;0.11	5.25	5.25	0.73442	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.62405	0.2425	N	0.16708	0.43	0.80722	D	1	B;B;P;P;B;B	0.46912	0.012;0.012;0.669;0.886;0.023;0.012	B;B;P;P;B;B	0.60609	0.044;0.044;0.461;0.877;0.058;0.044	T	0.68511	-0.5389	10	0.87932	D	0	-17.8166	18.8595	0.92266	0.0:0.0:1.0:0.0	.	409;427;422;434;434;421	B4DDE7;B4DS31;B2RA86;E9PC62;O95319-3;O95319	.;.;.;.;.;CELF2_HUMAN	Q	421;421;434;434;403;401;403;403;411;403;316;227	ENSP00000368563:E421Q;ENSP00000406451:E421Q;ENSP00000389951:E434Q;ENSP00000443926:E434Q;ENSP00000382743:E403Q;ENSP00000404834:E401Q;ENSP00000315328:E403Q;ENSP00000346426:E403Q;ENSP00000388530:E403Q;ENSP00000438884:E316Q	ENSP00000315328:E403Q	E	+	1	0	CELF2	11407810	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.445000	0.82738	0.650000	0.86243	GAG		0.418	CELF2-201	KNOWN	basic|CCDS	protein_coding	protein_coding					11	36	0	0	0	0.008291	0	11	36		
TRDMT1	1787	broad.mit.edu	37	10	17216603	17216603	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr10:17216603C>T	ENST00000377799.3	-	2	168	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K	TRDMT1_ENST00000412821.3_Missense_Mutation_p.E41K|TRDMT1_ENST00000457442.2_Missense_Mutation_p.M7I|TRDMT1_ENST00000488990.1_Missense_Mutation_p.E41K|TRDMT1_ENST00000358282.7_Missense_Mutation_p.E41K|TRDMT1_ENST00000351358.4_Missense_Mutation_p.E41K|TRDMT1_ENST00000377766.5_Missense_Mutation_p.E41K	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	41	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|response to amphetamine (GO:0001975)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|tRNA methyltransferase activity (GO:0008175)			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18					Pentamidine(DB00738)	TTGTATACTTCATTAGCGACA	0.363																																						uc001iop.2		NaN																	0				ovary(1)	1						c.(121-123)GAA>AAA		tRNA aspartic acid methyltransferase 1 isoform							146.0	131.0	136.0					10																	17216603		2203	4300	6503	SO:0001583	missense	1787				tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding	g.chr10:17216603C>T	AJ223333	CCDS7114.1	10p15.1	2006-10-23	2006-10-23	2006-10-23	ENSG00000107614	ENSG00000107614	2.1.1.37		2977	protein-coding gene	gene with protein product		602478	"""DNA (cytosine-5-)-methyltransferase 2"""	DNMT2		9425235, 9763678, 16424344	Standard	NM_004412		Approved	RNMT1	uc001iop.3	O14717	OTTHUMG00000017745	ENST00000377799.3:c.121G>A	10.37:g.17216603C>T	ENSP00000367030:p.Glu41Lys					TRDMT1_uc001ioq.2_Missense_Mutation_p.E41K|TRDMT1_uc001ior.2_Missense_Mutation_p.E41K|TRDMT1_uc001ios.2_5'UTR|TRDMT1_uc009xjt.2_Missense_Mutation_p.M7I|TRDMT1_uc010qcd.1_Missense_Mutation_p.E41K|TRDMT1_uc009xjs.1_Missense_Mutation_p.M7I|TRDMT1_uc009xju.1_RNA	p.E41K	NM_004412	NP_004403	O14717	TRDMT_HUMAN			2	169	-			41					B0YJ02|B0YJ03|B0YJ07|B0YJ08|O43669|Q86WW6	Missense_Mutation	SNP	ENST00000377799.3	37	c.121G>A	CCDS7114.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.70|11.70	1.715496|1.715496	0.30413|0.30413	.|.	.|.	ENSG00000107614|ENSG00000107614	ENST00000377799;ENST00000412821;ENST00000351358;ENST00000377766;ENST00000358282;ENST00000488990;ENST00000525762|ENST00000457442	D;D;D;D;D;D;D|T	0.83673|0.39406	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75|1.08	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	0.214171|.	0.48286|.	D|.	0.000187|.	T|T	0.37705|0.37705	0.1013|0.1013	L|L	0.37800|0.37800	1.135|1.135	0.48632|0.48632	D|D	0.999683|0.999683	D;B;B;B|B	0.71674|0.22346	0.998;0.218;0.004;0.005|0.068	D;B;B;B|B	0.70016|0.15870	0.967;0.037;0.005;0.008|0.014	T|T	0.19811|0.19811	-1.0294|-1.0294	10|9	0.10377|0.87932	T|D	0.69|0	-23.4535|-23.4535	17.9961|17.9961	0.89184|0.89184	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	41;41;41;41|7	B7Z8H2;O14717-3;O14717-2;O14717|E7EMI8	.;.;.;TRDMT_HUMAN|.	K|I	41;41;41;41;41;41;23|7	ENSP00000367030:E41K;ENSP00000409354:E41K;ENSP00000324328:E41K;ENSP00000366996:E41K;ENSP00000351027:E41K;ENSP00000419625:E41K;ENSP00000431476:E23K|ENSP00000412256:M7I	ENSP00000324328:E41K|ENSP00000412256:M7I	E|M	-|-	1|3	0|0	TRDMT1|TRDMT1	17256609|17256609	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.431000|1.431000	0.34925|0.34925	2.792000|2.792000	0.96026|0.96026	0.555000|0.555000	0.69702|0.69702	GAA|ATG		0.363	TRDMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047024.3		NM_004412		16	47	0	0	0	0.024245	0	16	47		
ANKRD26	22852	broad.mit.edu	37	10	27332447	27332447	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr10:27332447G>A	ENST00000376087.4	-	20	2234	c.2069C>T	c.(2068-2070)tCa>tTa	p.S690L	ANKRD26_ENST00000436985.2_Missense_Mutation_p.S706L|ANKRD26_ENST00000376070.3_Missense_Mutation_p.S247L	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	689					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TGTTTCAGATGACTGAGTTAA	0.373																																						uc001ith.2		NaN																	0				large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						c.(2065-2067)TCA>TTA		ankyrin repeat domain 26							98.0	90.0	93.0					10																	27332447		1861	4089	5950	SO:0001583	missense	22852					centrosome		g.chr10:27332447G>A	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.2069C>T	10.37:g.27332447G>A	ENSP00000365255:p.Ser690Leu					ANKRD26_uc001itg.2_Missense_Mutation_p.S376L|ANKRD26_uc009xku.1_Missense_Mutation_p.S690L	p.S689L	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN			20	2238	-			689					A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	c.2066C>T	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766117	0.69878	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	T;T;T	0.19105	2.17;2.17;2.17	4.47	4.47	0.54385	.	0.140594	0.31323	N	0.007858	T	0.37972	0.1023	L	0.55743	1.74	0.47407	D	0.999419	D;D;D	0.69078	0.996;0.994;0.997	P;P;P	0.60789	0.865;0.736;0.879	T	0.21724	-1.0237	10	0.72032	D	0.01	.	14.9716	0.71238	0.0:0.0:1.0:0.0	.	690;689;706	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	L	247;690;706	ENSP00000365238:S247L;ENSP00000365255:S690L;ENSP00000405112:S706L	ENSP00000365238:S247L	S	-	2	0	ANKRD26	27372453	1.000000	0.71417	0.161000	0.22692	0.806000	0.45545	8.005000	0.88553	2.177000	0.69029	0.305000	0.20034	TCA		0.373	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1				11	12	0	0	0	0.008291	0	11	12		
SVIL	6840	broad.mit.edu	37	10	29776225	29776225	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr10:29776225C>G	ENST00000355867.4	-	24	5104	c.4352G>C	c.(4351-4353)aGa>aCa	p.R1451T	SVIL_ENST00000375400.3_Missense_Mutation_p.R1025T|SVIL_ENST00000535393.1_Missense_Mutation_p.R365T|SVIL_ENST00000375398.2_Missense_Mutation_p.R1451T|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000538146.1_Missense_Mutation_p.R243T	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1451	Interaction with NEB.				cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CACATGTCTTCTTCCTGAACA	0.582																																						uc001iut.1		NaN																	0				ovary(5)|upper_aerodigestive_tract(1)	6						c.(4351-4353)AGA>ACA		supervillin isoform 2							59.0	50.0	53.0					10																	29776225		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29776225C>G	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.4352G>C	10.37:g.29776225C>G	ENSP00000348128:p.Arg1451Thr					LOC387647_uc001iuq.1_RNA|SVIL_uc010qdw.1_Missense_Mutation_p.R365T|SVIL_uc001iuu.1_Missense_Mutation_p.R1025T|SVIL_uc009xlc.2_Missense_Mutation_p.R243T	p.R1451T	NM_021738	NP_068506	O95425	SVIL_HUMAN			24	5105	-		Breast(68;0.103)	1451			Gelsolin-like 1.|Interaction with NEB.		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.4352G>C	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.713422	0.89112	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393;ENST00000535994;ENST00000538146	T;T;T;T;D	0.86497	1.94;1.94;1.94;1.94;-2.13	4.35	4.35	0.52113	.	0.000000	0.85682	D	0.000000	D	0.91395	0.7285	L	0.49778	1.585	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;0.997;0.989	D;D;D;P	0.80764	0.994;0.96;0.941;0.874	D	0.92378	0.5911	10	0.66056	D	0.02	-19.5689	17.1306	0.86725	0.0:1.0:0.0:0.0	.	365;243;1025;1451	F5H2Q5;F5GXV0;O95425-2;O95425	.;.;.;SVIL_HUMAN	T	1025;1451;1451;365;405;243	ENSP00000364549:R1025T;ENSP00000364547:R1451T;ENSP00000348128:R1451T;ENSP00000445472:R365T;ENSP00000440343:R243T	ENSP00000348128:R1451T	R	-	2	0	SVIL	29816231	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	7.541000	0.82084	2.257000	0.74773	0.485000	0.47835	AGA		0.582	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1				9	23	0	0	0	0.006214	0	9	23		
MAP3K8	1326	broad.mit.edu	37	10	30727904	30727904	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr10:30727904G>C	ENST00000263056.1	+	3	733	c.37G>C	c.(37-39)Gag>Cag	p.E13Q	MAP3K8_ENST00000542547.1_Missense_Mutation_p.E13Q|MAP3K8_ENST00000375322.2_Missense_Mutation_p.E13Q|MAP3K8_ENST00000375321.1_Missense_Mutation_p.E13Q	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	13					cell cycle (GO:0007049)|protein phosphorylation (GO:0006468)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				CAATAAAGAAGAGATTGATTT	0.323																																						uc001ivi.1		NaN																	0				breast(3)|central_nervous_system(1)	4						c.(37-39)GAG>CAG		mitogen-activated protein kinase kinase kinase							37.0	40.0	39.0					10																	30727904		2203	4300	6503	SO:0001583	missense	1326				cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	g.chr10:30727904G>C	D14497	CCDS7166.1	10p11.2	2011-06-09			ENSG00000107968	ENSG00000107968		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6860	protein-coding gene	gene with protein product		191195		COT, ESTF		2072910, 8479752	Standard	NM_005204		Approved	Tpl-2, EST, c-COT, MEKK8	uc009xlf.2	P41279	OTTHUMG00000017889	ENST00000263056.1:c.37G>C	10.37:g.30727904G>C	ENSP00000263056:p.Glu13Gln					MAP3K8_uc009xlf.1_Missense_Mutation_p.E13Q|MAP3K8_uc001ivj.1_Missense_Mutation_p.E13Q	p.E13Q	NM_005204	NP_005195	P41279	M3K8_HUMAN			3	733	+		Prostate(175;0.151)	13					A8K2Q5|D3DRX1|Q14275|Q5T855|Q9HC81	Missense_Mutation	SNP	ENST00000263056.1	37	c.37G>C	CCDS7166.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.467590	0.84533	.	.	ENSG00000107968	ENST00000375328;ENST00000263056;ENST00000542547;ENST00000415139;ENST00000375322;ENST00000413724;ENST00000375321	T;T;T;T;T	0.70869	-0.52;-0.52;4.39;1.43;-0.52	5.84	5.84	0.93424	.	0.111008	0.64402	D	0.000017	T	0.77246	0.4102	N	0.24115	0.695	0.46131	D	0.998885	D	0.63880	0.993	D	0.72982	0.979	T	0.79543	-0.1760	10	0.87932	D	0	.	20.1346	0.98019	0.0:0.0:1.0:0.0	.	13	P41279	M3K8_HUMAN	Q	13	ENSP00000263056:E13Q;ENSP00000443610:E13Q;ENSP00000409653:E13Q;ENSP00000391275:E13Q;ENSP00000364470:E13Q	ENSP00000263056:E13Q	E	+	1	0	MAP3K8	30767910	1.000000	0.71417	0.995000	0.50966	0.826000	0.46750	5.199000	0.65152	2.765000	0.95021	0.655000	0.94253	GAG		0.323	MAP3K8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047416.2		NM_005204		7	15	0	0	0	0.001984	0	7	15		
MAP3K8	1326	broad.mit.edu	37	10	30727994	30727994	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr10:30727994G>C	ENST00000263056.1	+	3	823	c.127G>C	c.(127-129)Gaa>Caa	p.E43Q	MAP3K8_ENST00000542547.1_Missense_Mutation_p.E43Q|MAP3K8_ENST00000375322.2_Missense_Mutation_p.E43Q|MAP3K8_ENST00000375321.1_Missense_Mutation_p.E43Q	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	43					cell cycle (GO:0007049)|protein phosphorylation (GO:0006468)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				AGCAGTTTATGAACCCAGTCT	0.363																																						uc001ivi.1		NaN																	0				breast(3)|central_nervous_system(1)	4						c.(127-129)GAA>CAA		mitogen-activated protein kinase kinase kinase							108.0	96.0	100.0					10																	30727994		2203	4300	6503	SO:0001583	missense	1326				cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	g.chr10:30727994G>C	D14497	CCDS7166.1	10p11.2	2011-06-09			ENSG00000107968	ENSG00000107968		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6860	protein-coding gene	gene with protein product		191195		COT, ESTF		2072910, 8479752	Standard	NM_005204		Approved	Tpl-2, EST, c-COT, MEKK8	uc009xlf.2	P41279	OTTHUMG00000017889	ENST00000263056.1:c.127G>C	10.37:g.30727994G>C	ENSP00000263056:p.Glu43Gln					MAP3K8_uc009xlf.1_Missense_Mutation_p.E43Q|MAP3K8_uc001ivj.1_Missense_Mutation_p.E43Q	p.E43Q	NM_005204	NP_005195	P41279	M3K8_HUMAN			3	823	+		Prostate(175;0.151)	43					A8K2Q5|D3DRX1|Q14275|Q5T855|Q9HC81	Missense_Mutation	SNP	ENST00000263056.1	37	c.127G>C	CCDS7166.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.690672	0.29962	.	.	ENSG00000107968	ENST00000375328;ENST00000263056;ENST00000542547;ENST00000415139;ENST00000375322;ENST00000413724;ENST00000375321	T;T;T;T;T	0.70986	-0.53;-0.53;4.22;1.25;-0.53	5.6	2.79	0.32731	.	0.249581	0.46442	D	0.000286	T	0.53077	0.1774	L	0.27053	0.805	0.43203	D	0.995053	B	0.34372	0.451	B	0.30029	0.11	T	0.50906	-0.8772	10	0.72032	D	0.01	.	8.6824	0.34216	0.2861:0.0:0.7139:0.0	.	43	P41279	M3K8_HUMAN	Q	43	ENSP00000263056:E43Q;ENSP00000443610:E43Q;ENSP00000409653:E43Q;ENSP00000391275:E43Q;ENSP00000364470:E43Q	ENSP00000263056:E43Q	E	+	1	0	MAP3K8	30768000	0.964000	0.33143	0.181000	0.23098	0.426000	0.31534	1.610000	0.36869	0.337000	0.23665	0.655000	0.94253	GAA		0.363	MAP3K8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047416.2		NM_005204		14	40	0	0	0	0.016723	0	14	40		
BMS1	9790	broad.mit.edu	37	10	43292616	43292616	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr10:43292616G>C	ENST00000374518.5	+	10	1987	c.1924G>C	c.(1924-1926)Gaa>Caa	p.E642Q		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	642					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CAGTGATATAGAAAATTTACT	0.373																																						uc001jaj.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(1924-1926)GAA>CAA		BMS1-like, ribosome assembly protein							39.0	41.0	40.0					10																	43292616		2139	4264	6403	SO:0001583	missense	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43292616G>C	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.1924G>C	10.37:g.43292616G>C	ENSP00000363642:p.Glu642Gln						p.E642Q	NM_014753	NP_055568	Q14692	BMS1_HUMAN			10	2282	+			642					Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	c.1924G>C	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039087	0.75617	.	.	ENSG00000165733	ENST00000374518	T	0.26660	1.72	4.86	4.86	0.63082	.	0.188907	0.46758	D	0.000272	T	0.40886	0.1135	L	0.36672	1.1	0.46749	D	0.99918	D	0.76494	0.999	D	0.80764	0.994	T	0.07309	-1.0779	10	0.21014	T	0.42	.	18.5326	0.90997	0.0:0.0:1.0:0.0	.	642	Q14692	BMS1_HUMAN	Q	642	ENSP00000363642:E642Q	ENSP00000363642:E642Q	E	+	1	0	BMS1	42612622	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	4.621000	0.61233	2.446000	0.82766	0.638000	0.83543	GAA		0.373	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2		NM_014753		13	38	0	0	0	0.008871	0	13	38		
BMS1	9790	broad.mit.edu	37	10	43292652	43292652	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr10:43292652G>C	ENST00000374518.5	+	10	2023	c.1960G>C	c.(1960-1962)Gaa>Caa	p.E654Q		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	654					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTACAAGGAAGAAAATAATGA	0.383																																						uc001jaj.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(1960-1962)GAA>CAA		BMS1-like, ribosome assembly protein							39.0	40.0	40.0					10																	43292652		2149	4275	6424	SO:0001583	missense	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43292652G>C	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.1960G>C	10.37:g.43292652G>C	ENSP00000363642:p.Glu654Gln						p.E654Q	NM_014753	NP_055568	Q14692	BMS1_HUMAN			10	2318	+			654					Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	c.1960G>C	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.274760	0.40194	.	.	ENSG00000165733	ENST00000374518	T	0.26373	1.74	5.02	5.02	0.67125	.	0.286493	0.32386	N	0.006175	T	0.19366	0.0465	L	0.29908	0.895	0.24904	N	0.992085	B	0.27559	0.181	B	0.26864	0.074	T	0.12268	-1.0554	10	0.33940	T	0.23	.	12.7369	0.57230	0.0866:0.0:0.9134:0.0	.	654	Q14692	BMS1_HUMAN	Q	654	ENSP00000363642:E654Q	ENSP00000363642:E654Q	E	+	1	0	BMS1	42612658	1.000000	0.71417	0.992000	0.48379	0.701000	0.40568	2.570000	0.45981	2.523000	0.85059	0.638000	0.83543	GAA		0.383	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2		NM_014753		5	37	0	0	0	0.013537	0	5	37		
GDF2	2658	broad.mit.edu	37	10	48413880	48413880	+	Missense_Mutation	SNP	T	T	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr10:48413880T>A	ENST00000249598.1	-	2	1147	c.988A>T	c.(988-990)Acc>Tcc	p.T330S		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	330					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to BMP stimulus (GO:0071773)|growth (GO:0040007)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of DNA replication (GO:0008156)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CGCAGGGAGGTCTTTTGACAG	0.607																																						uc001jfa.1		NaN																	0		p.T330I(1)		ovary(2)|skin(1)	3						c.(988-990)ACC>TCC		growth differentiation factor 2 precursor							64.0	66.0	65.0					10																	48413880		2203	4300	6503	SO:0001583	missense	2658				activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr10:48413880T>A	AF156891	CCDS73118.1	10q11.22	2014-05-06			ENSG00000128802	ENSG00000263761		"""Endogenous ligands"""	4217	protein-coding gene	gene with protein product		605120				10849432	Standard	NM_016204		Approved	BMP-9, BMP9	uc001jfa.1	Q9UK05	OTTHUMG00000188320	ENST00000249598.1:c.988A>T	10.37:g.48413880T>A	ENSP00000249598:p.Thr330Ser						p.T330S	NM_016204	NP_057288	Q9UK05	GDF2_HUMAN			2	1151	-			330					Q5VSQ9|Q9Y571	Missense_Mutation	SNP	ENST00000249598.1	37	c.988A>T	CCDS7219.1	.	.	.	.	.	.	.	.	.	.	T	7.401	0.632681	0.14322	.	.	ENSG00000128802	ENST00000249598	D	0.83837	-1.77	5.46	4.31	0.51392	Transforming growth factor-beta, C-terminal (3);	0.191962	0.56097	D	0.000039	T	0.68933	0.3055	N	0.13098	0.295	0.48087	D	0.999588	B	0.22414	0.069	B	0.23574	0.047	T	0.62501	-0.6841	10	0.41790	T	0.15	.	9.2802	0.37725	0.2878:0.0:0.0:0.7122	.	330	Q9UK05	GDF2_HUMAN	S	330	ENSP00000249598:T330S	ENSP00000249598:T330S	T	-	1	0	GDF2	48033886	1.000000	0.71417	1.000000	0.80357	0.103000	0.19146	3.237000	0.51344	0.889000	0.36185	0.383000	0.25322	ACC		0.607	GDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047891.1		NM_016204		24	36	0	0	0	0.016522	0	24	36		
ANK3	288	broad.mit.edu	37	10	61830481	61830481	+	Silent	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr10:61830481C>T	ENST00000280772.2	-	37	10349	c.10158G>A	c.(10156-10158)ggG>ggA	p.G3386G	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3386					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GGTCGTTGTTCCCATTCTGGG	0.468																																						uc001jky.2		NaN																	0				skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						c.(10156-10158)GGG>GGA		ankyrin 3 isoform 1							156.0	145.0	149.0					10																	61830481		2203	4300	6503	SO:0001819	synonymous_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61830481C>T	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.10158G>A	10.37:g.61830481C>T						ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	p.G3386G	NM_020987	NP_066267	Q12955	ANK3_HUMAN			37	10350	-			3386					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	c.10158G>A	CCDS7258.1																																																																																				0.468	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4		NM_020987		36	67	0	0	0	0.015359	0	36	67		
ANK3	288	broad.mit.edu	37	10	61831191	61831191	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr10:61831191C>G	ENST00000280772.2	-	37	9639	c.9448G>C	c.(9448-9450)Gat>Cat	p.D3150H	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3150					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AGAGTATCATCTTCTGGACTA	0.428																																						uc001jky.2		NaN																	0				skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						c.(9448-9450)GAT>CAT		ankyrin 3 isoform 1							109.0	116.0	114.0					10																	61831191		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61831191C>G	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.9448G>C	10.37:g.61831191C>G	ENSP00000280772:p.Asp3150His					ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	p.D3150H	NM_020987	NP_066267	Q12955	ANK3_HUMAN			37	9640	-			3150					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.9448G>C	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.822700	0.71028	.	.	ENSG00000151150	ENST00000280772	D	0.89746	-2.56	5.48	5.48	0.80851	.	0.000000	0.43579	D	0.000560	D	0.93651	0.7972	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.93901	0.7188	10	0.72032	D	0.01	.	19.359	0.94428	0.0:1.0:0.0:0.0	.	3150	Q12955	ANK3_HUMAN	H	3150	ENSP00000280772:D3150H	ENSP00000280772:D3150H	D	-	1	0	ANK3	61501197	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.584000	0.87258	0.561000	0.74099	GAT		0.428	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4		NM_020987		30	72	0	0	0	0.00632	0	30	72		
ZMIZ1	57178	broad.mit.edu	37	10	81037044	81037044	+	Silent	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr10:81037044C>G	ENST00000334512.5	+	8	959	c.387C>G	c.(385-387)ctC>ctG	p.L129L	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	129					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			AGCCCCCTCTCAGCTCCATGA	0.622																																						uc001kaf.2		NaN																	0				ovary(2)|breast(1)|skin(1)	4						c.(385-387)CTC>CTG		retinoic acid induced 17							57.0	54.0	55.0					10																	81037044		2203	4300	6503	SO:0001819	synonymous_variant	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81037044C>G	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.387C>G	10.37:g.81037044C>G						ZMIZ1_uc001kag.2_Silent_p.L5L|ZMIZ1_uc001kah.1_Silent_p.L5L	p.L129L	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		8	959	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		129					Q5JSH9|Q7Z7E6	Silent	SNP	ENST00000334512.5	37	c.387C>G	CCDS7357.1																																																																																				0.622	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2		NM_020338		3	28	0	0	0	0.004672	0	3	28		
ARL3	403	broad.mit.edu	37	10	104459170	104459170	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr10:104459170C>G	ENST00000260746.5	-	3	355	c.224G>C	c.(223-225)aGa>aCa	p.R75T		NM_004311.3	NP_004302.1	P36405	ARL3_HUMAN	ADP-ribosylation factor-like 3	75					cilium morphogenesis (GO:0060271)|cytokinesis (GO:0000910)|intraciliary transport (GO:0042073)|kidney development (GO:0001822)|photoreceptor cell development (GO:0042461)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)|spindle microtubule (GO:0005876)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)			large_intestine(2)	2		Colorectal(252;0.122)		Epithelial(162;4.88e-09)|all cancers(201;1.29e-07)|BRCA - Breast invasive adenocarcinoma(275;0.22)		CCAGTATGGTCTGATTTTCCT	0.358																																						uc001kwa.2		NaN																	0					0						c.(223-225)AGA>ACA		ADP-ribosylation factor-like 3							164.0	149.0	154.0					10																	104459170		2203	4300	6503	SO:0001583	missense	403				cell cycle|cytokinesis|small GTPase mediated signal transduction	centrosome|cytoplasmic microtubule|Golgi membrane|midbody|nucleus|photoreceptor connecting cilium|spindle microtubule	GDP binding|GTP binding|metal ion binding|microtubule binding	g.chr10:104459170C>G	U07151	CCDS7538.1	10q23.3	2014-05-09			ENSG00000138175	ENSG00000138175		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	694	protein-coding gene	gene with protein product		604695				8034651, 10072593	Standard	NM_004311		Approved	ARFL3	uc001kwa.3	P36405	OTTHUMG00000018965	ENST00000260746.5:c.224G>C	10.37:g.104459170C>G	ENSP00000260746:p.Arg75Thr						p.R75T	NM_004311	NP_004302	P36405	ARL3_HUMAN		Epithelial(162;4.88e-09)|all cancers(201;1.29e-07)|BRCA - Breast invasive adenocarcinoma(275;0.22)	3	382	-		Colorectal(252;0.122)	75					B2R6C7|Q53X83|Q5JSM2	Missense_Mutation	SNP	ENST00000260746.5	37	c.224G>C	CCDS7538.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.663626	0.88251	.	.	ENSG00000138175	ENST00000260746	T	0.79247	-1.25	6.04	5.13	0.70059	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.93363	0.7884	H	0.99903	4.92	0.80722	D	1	D	0.67145	0.996	P	0.62740	0.906	D	0.95675	0.8727	10	0.87932	D	0	-5.5645	14.8593	0.70366	0.0:0.9304:0.0:0.0696	.	75	P36405	ARL3_HUMAN	T	75	ENSP00000260746:R75T	ENSP00000260746:R75T	R	-	2	0	ARL3	104449160	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.084000	0.71335	2.873000	0.98535	0.563000	0.77884	AGA		0.358	ARL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050088.2		NM_004311		6	8	0	0	0	0.021553	0	6	8		
TACC2	10579	broad.mit.edu	37	10	123903125	123903125	+	Missense_Mutation	SNP	C	C	T	rs377123555		TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr10:123903125C>T	ENST00000369005.1	+	7	6078	c.5738C>T	c.(5737-5739)tCg>tTg	p.S1913L	TACC2_ENST00000369001.1_Intron|TACC2_ENST00000515603.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000493951.1_3'UTR|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Intron|TACC2_ENST00000453444.2_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.S1913L|TACC2_ENST00000369000.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1913					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTTCCTCCCTCGGCTGCAGAA	0.562											OREG0020589	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001lfv.2		NaN																	0				ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(5737-5739)TCG>TTG		transforming, acidic coiled-coil containing		C	,LEU/SER	2,4404	4.2+/-10.8	0,2,2201	102.0	89.0	94.0		,5738	-3.8	0.0	10		94	0,8600		0,0,4300	no	intron,missense	TACC2	NM_206861.1,NM_206862.2	,145	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,benign	,1913/2949	123903125	2,13004	2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123903125C>T	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.5738C>T	10.37:g.123903125C>T	ENSP00000358001:p.Ser1913Leu		OREG0020589	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1530	TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Intron|TACC2_uc010qtv.1_Intron|TACC2_uc001lfx.2_Intron|TACC2_uc001lfy.2_Intron	p.S1913L	NM_206862	NP_996744	O95359	TACC2_HUMAN			7	6098	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	1913					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.5738C>T	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	C	5.256	0.232672	0.09969	4.54E-4	0.0	ENSG00000138162	ENST00000369005;ENST00000334433;ENST00000340076	T;T	0.30714	1.52;1.52	4.45	-3.76	0.04359	.	2.344290	0.02164	N	0.059096	T	0.11922	0.0290	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.09100	-1.0690	10	0.12430	T	0.62	7.0136	0.3791	0.00392	0.271:0.2407:0.1332:0.3551	.	1913	O95359	TACC2_HUMAN	L	1913;1913;1903	ENSP00000358001:S1913L;ENSP00000334280:S1913L	ENSP00000334280:S1913L	S	+	2	0	TACC2	123893115	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.714000	0.01881	-0.969000	0.03573	0.561000	0.74099	TCG		0.562	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1				10	40	0	0	0	0.008291	0	10	40		
MUC6	4588	broad.mit.edu	37	11	1026380	1026380	+	Silent	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr11:1026380G>A	ENST00000421673.2	-	20	2543	c.2493C>T	c.(2491-2493)ttC>ttT	p.F831F		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	831					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGACCCCCGAGAACTCACATG	0.647																																						uc001lsw.2		NaN																	0				ovary(1)	1						c.(2491-2493)TTC>TTT		mucin 6, gastric							37.0	43.0	41.0					11																	1026380		1982	4153	6135	SO:0001819	synonymous_variant	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1026380G>A	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.2493C>T	11.37:g.1026380G>A							p.F831F	NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	20	2544	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	831					O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	c.2493C>T	CCDS44513.1																																																																																				0.647	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2		XM_290540		6	11	0	0	0	0.021553	0	6	11		
DCHS1	8642	broad.mit.edu	37	11	6643190	6643190	+	Silent	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr11:6643190G>A	ENST00000299441.3	-	21	10128	c.9717C>T	c.(9715-9717)atC>atT	p.I3239I	RP11-732A19.5_ENST00000526456.1_RNA|TPP1_ENST00000533371.1_5'Flank|RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000528657.1_5'Flank|TPP1_ENST00000534644.1_5'Flank|TPP1_ENST00000299427.6_5'Flank	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	3239					branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTCATGGCTGATGGGGGAGC	0.642																																						uc001mem.1		NaN																	0				ovary(3)|large_intestine(1)|pancreas(1)	5						c.(9715-9717)ATC>ATT		dachsous 1 precursor							65.0	60.0	62.0					11																	6643190		2201	4296	6497	SO:0001819	synonymous_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6643190G>A	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.9717C>T	11.37:g.6643190G>A						TPP1_uc001mek.1_5'Flank|TPP1_uc001mel.1_5'Flank|TPP1_uc010rar.1_5'Flank	p.I3239I	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	21	10127	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	3239			Cytoplasmic (Potential).		O15098	Silent	SNP	ENST00000299441.3	37	c.9717C>T	CCDS7771.1																																																																																				0.642	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1		NM_003737		7	6	0	0	0	0.00308	0	7	6		
CSRP3	8048	broad.mit.edu	37	11	19209781	19209781	+	Silent	SNP	G	G	A	rs34075817	byFrequency	TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr11:19209781G>A	ENST00000533783.1	-	4	423	c.183C>T	c.(181-183)tgC>tgT	p.C61C	CSRP3_ENST00000265968.3_Silent_p.C61C	NM_003476.4	NP_003467.1	P50461	CSRP3_HUMAN	cysteine and glycine-rich protein 3 (cardiac LIM protein)	61	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue development (GO:0048738)|cardiac myofibril assembly (GO:0055003)|cellular calcium ion homeostasis (GO:0006874)|detection of muscle stretch (GO:0035995)|protein localization to organelle (GO:0033365)|regulation of the force of heart contraction (GO:0002026)|skeletal muscle tissue development (GO:0007519)	cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)	actinin binding (GO:0042805)|structural constituent of muscle (GO:0008307)|telethonin binding (GO:0031433)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10						TGCGCCCATAGCACACCTTGC	0.587																																						uc001mpk.2		NaN																	0					0						c.(181-183)TGC>TGT		cysteine and glycine-rich protein 3							149.0	128.0	136.0					11																	19209781		2199	4293	6492	SO:0001819	synonymous_variant	8048				cell differentiation|skeletal muscle tissue development	cytoskeleton|nucleus	protein binding|zinc ion binding	g.chr11:19209781G>A	U20324	CCDS7848.1	11p15.1	2014-09-17				ENSG00000129170			2472	protein-coding gene	gene with protein product		600824				7490106	Standard	NM_003476		Approved	CLP, MLP, CMD1M	uc001mpk.3	P50461		ENST00000533783.1:c.183C>T	11.37:g.19209781G>A							p.C61C	NM_003476	NP_003467	P50461	CSRP3_HUMAN			3	300	-			61			LIM zinc-binding 1.		Q9P131	Silent	SNP	ENST00000533783.1	37	c.183C>T	CCDS7848.1																																																																																				0.587	CSRP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394484.1		NM_003476		25	48	0	0	0	0.01892	0	25	48		
DCDC1	341019	broad.mit.edu	37	11	31327862	31327862	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr11:31327862G>C	ENST00000452803.1	-	5	709	c.508C>G	c.(508-510)Caa>Gaa	p.Q170E	DCDC1_ENST00000597505.1_Missense_Mutation_p.Q170E|RP1-296L11.1_ENST00000528872.1_RNA	NM_181807.3	NP_861523.2	P59894	DCDC1_HUMAN	doublecortin domain containing 1	170	Doublecortin. {ECO:0000255|PROSITE- ProRule:PRU00072}.				intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					ACTCTTGGTTGAAGTTTGTGT	0.368																																						uc001msv.2		NaN																	0				skin(1)	1						c.(508-510)CAA>GAA		doublecortin domain containing 1							120.0	115.0	117.0					11																	31327862		2202	4299	6501	SO:0001583	missense	341019				intracellular signal transduction			g.chr11:31327862G>C	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000452803.1:c.508C>G	11.37:g.31327862G>C	ENSP00000389792:p.Gln170Glu					DCDC1_uc001msu.1_5'UTR	p.Q170E	NM_181807	NP_861523	P59894	DCDC1_HUMAN			5	710	-	Lung SC(675;0.225)		170			Doublecortin.		A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000452803.1	37	c.508C>G	CCDS7872.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.573859	0.45902	.	.	ENSG00000188682	ENST00000452803	D	0.93307	-3.2	5.95	5.04	0.67666	Doublecortin domain (1);	0.236355	0.29830	N	0.011099	D	0.91324	0.7264	L	0.58101	1.795	0.09310	N	1	P	0.39480	0.675	B	0.38428	0.273	D	0.87064	0.2155	10	0.56958	D	0.05	.	13.7667	0.62999	0.0719:0.0:0.9281:0.0	.	170	P59894	DCDC1_HUMAN	E	170	ENSP00000389792:Q170E	ENSP00000343496:Q170E	Q	-	1	0	DCDC1	31284438	0.994000	0.37717	0.997000	0.53966	0.979000	0.70002	1.970000	0.40520	2.810000	0.96702	0.650000	0.86243	CAA		0.368	DCDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316531.1		NM_181807		20	25	0	0	0	0.007413	0	20	25		
TNKS1BP1	85456	broad.mit.edu	37	11	57076206	57076206	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr11:57076206C>G	ENST00000532437.1	-	5	4290	c.3979G>C	c.(3979-3981)Gac>Cac	p.D1327H	TNKS1BP1_ENST00000530920.1_5'Flank|TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.D1327H			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1327	Acidic.|Gly-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CCTCCAGAGTCTGGGTCACAG	0.607																																						uc001njr.2		NaN																	0				skin(1)	1						c.(3979-3981)GAC>CAC		tankyrase 1-binding protein 1							136.0	148.0	144.0					11																	57076206		2201	4296	6497	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57076206C>G	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.3979G>C	11.37:g.57076206C>G	ENSP00000437271:p.Asp1327His					TNKS1BP1_uc001njs.2_Missense_Mutation_p.D1327H|TNKS1BP1_uc009ymd.1_Missense_Mutation_p.D778H	p.D1327H	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN			5	4291	-		all_epithelial(135;0.21)	1327			Gly-rich.|Acidic.		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.3979G>C	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	C	4.316	0.057995	0.08339	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.32753	1.44;1.44	5.08	4.15	0.48705	.	0.113080	0.39146	N	0.001446	T	0.20129	0.0484	L	0.29908	0.895	0.09310	N	1	B	0.31351	0.32	B	0.28232	0.087	T	0.17440	-1.0369	10	0.62326	D	0.03	-11.1363	7.1338	0.25517	0.0:0.7318:0.1755:0.0927	.	1327	Q9C0C2	TB182_HUMAN	H	1327	ENSP00000350990:D1327H;ENSP00000437271:D1327H	ENSP00000350990:D1327H	D	-	1	0	TNKS1BP1	56832782	0.005000	0.15991	0.010000	0.14722	0.070000	0.16714	0.642000	0.24735	1.100000	0.41517	0.462000	0.41574	GAC		0.607	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1		NM_033396		56	100	0	0	0	0.01441	0	56	100		
PRPF19	27339	broad.mit.edu	37	11	60671234	60671234	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr11:60671234T>C	ENST00000227524.4	-	2	324	c.119A>G	c.(118-120)gAc>gGc	p.D40G		NM_014502.4	NP_055317.1			pre-mRNA processing factor 19											haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						GTTGATGGGGTCGGTACCATT	0.532																																						uc001nqf.2		NaN																	0				ovary(1)	1						c.(118-120)GAC>GGC		PRP19/PSO4 pre-mRNA processing factor 19							131.0	126.0	128.0					11																	60671234		2203	4299	6502	SO:0001583	missense	27339				DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity	g.chr11:60671234T>C	BC018698	CCDS7995.1	11q12.2	2014-05-20	2013-06-10	2005-04-01	ENSG00000110107	ENSG00000110107		"""WD repeat domain containing"", ""U-box domain containing"""	17896	protein-coding gene	gene with protein product	"""nuclear matrix protein NMP200 related to splicing factor PRP19"", ""psoralen 4"""	608330	"""PRP19/PSO4 homolog (S. cerevisiae)"", ""PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae)"""	PRP19		12960389	Standard	NM_014502		Approved	UBOX4, NMP200, PSO4, hPSO4	uc001nqf.3	Q9UMS4	OTTHUMG00000167798	ENST00000227524.4:c.119A>G	11.37:g.60671234T>C	ENSP00000227524:p.Asp40Gly						p.D40G	NM_014502	NP_055317	Q9UMS4	PRP19_HUMAN			2	326	-			40			U-box.			Missense_Mutation	SNP	ENST00000227524.4	37	c.119A>G	CCDS7995.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.320252	0.81469	.	.	ENSG00000110107	ENST00000227524;ENST00000541371	D;D	0.87491	-2.26;-2.26	5.63	5.63	0.86233	Zinc finger, RING/FYVE/PHD-type (1);U box domain (2);	0.000000	0.85682	D	0.000000	D	0.95303	0.8476	H	0.95982	3.75	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95453	0.8536	10	0.35671	T	0.21	-27.667	14.0786	0.64905	0.0:0.0:0.0:1.0	.	40	Q9UMS4	PRP19_HUMAN	G	40	ENSP00000227524:D40G;ENSP00000440266:D40G	ENSP00000227524:D40G	D	-	2	0	PRPF19	60427810	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	6.992000	0.76238	2.145000	0.66743	0.533000	0.62120	GAC		0.532	PRPF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396334.1		NM_014502		22	42	0	0	0	0.014323	0	22	42		
TMEM216	51259	broad.mit.edu	37	11	61161357	61161357	+	Splice_Site	SNP	T	T	G	rs559230605	byFrequency	TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr11:61161357T>G	ENST00000515837.2	+	3	1083	c.138T>G	c.(136-138)ggT>ggG	p.G46G	TMEM216_ENST00000334888.5_Splice_Site_p.G46G|TMEM216_ENST00000398979.3_5'UTR			Q9P0N5	TM216_HUMAN	transmembrane protein 216	46					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)		p.G46G(3)		endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						TATTGGCAGGTGTCCTGCTAC	0.438													T|||	429	0.0856629	0.1248	0.0965	5008	,	,		21622	0.0665		0.0666	False		,,,				2504	0.0644					uc010rlj.1		NaN																	3	Substitution - coding silent(3)		prostate(2)|endometrium(1)		0						c.(115-117)GGT>GGG		transmembrane protein 216							84.0	93.0	90.0					11																	61161357		1966	4155	6121	SO:0001630	splice_region_variant	51259					integral to membrane		g.chr11:61161357T>G		CCDS53640.1	11q13.1	2014-09-17			ENSG00000187049	ENSG00000187049			25018	protein-coding gene	gene with protein product		613277	"""cerebello-oculo-renal syndrome 2"", ""Meckel syndrome, type 2"""	CORS2, MKS2		11042152, 20036350, 20512146	Standard	NM_016499		Approved	MGC13379, HSPC244, JBTS2	uc021qkf.1	Q9P0N5		ENST00000515837.2:c.137-1T>G	11.37:g.61161357T>G						TMEM216_uc001nrn.1_5'UTR	p.G39G	NM_016499	NP_057583	Q9P0N5	TM216_HUMAN			3	410	+			39					A8MZ23|B7Z8N1	Silent	SNP	ENST00000515837.2	37	c.117T>G	CCDS53640.1																																																																																				0.438	TMEM216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398430.1		NM_016499	Silent	6	20	0	0	0	0.006214	0	6	20		
MARK2	2011	broad.mit.edu	37	11	63666131	63666131	+	Missense_Mutation	SNP	A	A	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr11:63666131A>T	ENST00000509502.2	+	5	753	c.290A>T	c.(289-291)gAg>gTg	p.E97V	MARK2_ENST00000513765.2_Missense_Mutation_p.E97V|MARK2_ENST00000350490.7_Missense_Mutation_p.E130V|MARK2_ENST00000425897.2_Missense_Mutation_p.E97V|MARK2_ENST00000413835.2_Missense_Mutation_p.E130V|MARK2_ENST00000408948.3_Missense_Mutation_p.E97V|MARK2_ENST00000508192.1_Missense_Mutation_p.E130V|MARK2_ENST00000402010.2_Missense_Mutation_p.E130V|MARK2_ENST00000361128.5_Missense_Mutation_p.E130V|MARK2_ENST00000315032.8_Missense_Mutation_p.E130V|MARK2_ENST00000377810.3_Missense_Mutation_p.E97V|MARK2_ENST00000377809.4_Missense_Mutation_p.E130V|MARK2_ENST00000502399.3_Missense_Mutation_p.E130V	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						CTTGTCATGGAGTACGCTAGT	0.498																																						uc001nxw.2		NaN																	0				stomach(1)|ovary(1)|lung(1)	3						c.(388-390)GAG>GTG		MAP/microtubule affinity-regulating kinase 2							162.0	149.0	153.0					11																	63666131		2201	4297	6498	SO:0001583	missense	2011				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:63666131A>T	BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"""ELKL motif kinase 1"", ""serine/threonine kinase"", ""protein-serine/threonine kinase"", ""Ser/Thr protein kinase PAR-1B"""	600526	"""ELKL motif kinase"""	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.290A>T	11.37:g.63666131A>T	ENSP00000423974:p.Glu97Val					MARK2_uc001nxx.2_Missense_Mutation_p.E130V|MARK2_uc001nxy.2_Missense_Mutation_p.E130V|MARK2_uc001nxv.3_Missense_Mutation_p.E130V|MARK2_uc001nxz.3_Missense_Mutation_p.E97V|MARK2_uc009yoy.2_Missense_Mutation_p.E97V	p.E130V	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN			5	968	+			130			Protein kinase.			Missense_Mutation	SNP	ENST00000509502.2	37	c.389A>T	CCDS41665.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.837978	0.91117	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000543220;ENST00000540169;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61	5.26	5.26	0.73747	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	0.79604	0.4474	H	0.98256	4.185	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;1.0;1.0;1.0;1.0	D	0.86662	0.1905	10	0.87932	D	0	.	13.1826	0.59663	1.0:0.0:0.0:0.0	.	97;97;130;130;130;130	E7ETY4;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16	.;.;.;.;MARK2_HUMAN;.	V	130;130;130;130;97;130;130;130;130;97;97;97;97;97;97	ENSP00000385751:E130V;ENSP00000326632:E130V;ENSP00000367040:E130V;ENSP00000389184:E130V;ENSP00000367041:E97V;ENSP00000425765:E130V;ENSP00000355091:E130V;ENSP00000294247:E130V;ENSP00000444956:E97V;ENSP00000437509:E97V;ENSP00000423974:E97V;ENSP00000421075:E97V;ENSP00000386128:E97V;ENSP00000415494:E97V	ENSP00000326632:E130V	E	+	2	0	MARK2	63422707	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.832000	0.92079	2.208000	0.71279	0.460000	0.39030	GAG		0.498	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360862.2		NM_017490		26	45	0	0	0	0.027356	0	26	45		
FERMT3	83706	broad.mit.edu	37	11	63978782	63978782	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr11:63978782C>T	ENST00000279227.5	+	5	645	c.550C>T	c.(550-552)Cac>Tac	p.H184Y	FERMT3_ENST00000345728.5_Missense_Mutation_p.H184Y	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	184					integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|platelet aggregation (GO:0070527)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|podosome (GO:0002102)	integrin binding (GO:0005178)			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GATGCCAGCTCACTTCTCGGA	0.706																																						uc001nyl.2		NaN																	0				ovary(1)	1						c.(550-552)CAC>TAC		fermitin family homolog 3 long form							32.0	29.0	30.0					11																	63978782		2201	4295	6496	SO:0001583	missense	83706				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding	g.chr11:63978782C>T	L25343	CCDS8059.1, CCDS8060.1	11q13.1	2014-09-17	2010-06-24		ENSG00000149781	ENSG00000149781		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	23151	protein-coding gene	gene with protein product	"""kindlin-3"""	607901	"""fermitin family homolog 3 (Drosophila)"""				Standard	NM_178443		Approved	URP2, KIND3, MIG2B, MGC10966, MIG-2, UNC112C	uc001nym.2	Q86UX7	OTTHUMG00000167790	ENST00000279227.5:c.550C>T	11.37:g.63978782C>T	ENSP00000279227:p.His184Tyr					FERMT3_uc001nym.2_Missense_Mutation_p.H184Y	p.H184Y	NM_178443	NP_848537	Q86UX7	URP2_HUMAN			5	699	+			184					Q8IUA1|Q8N207|Q9BT48	Missense_Mutation	SNP	ENST00000279227.5	37	c.550C>T	CCDS8060.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.222905	0.39300	.	.	ENSG00000149781	ENST00000544997;ENST00000345728;ENST00000279227;ENST00000541252	T;T;T;T	0.42513	1.58;0.97;0.97;1.07	3.37	3.37	0.38596	Band 4.1 domain (1);	0.000000	0.85682	D	0.000000	T	0.43897	0.1268	L	0.44542	1.39	0.50813	D	0.999896	D;P	0.69078	0.997;0.851	P;B	0.57324	0.818;0.297	T	0.37454	-0.9705	10	0.02654	T	1	-35.9639	14.0321	0.64622	0.0:1.0:0.0:0.0	.	184;184	Q86UX7-2;Q86UX7	.;URP2_HUMAN	Y	184;184;184;4	ENSP00000445778:H184Y;ENSP00000339950:H184Y;ENSP00000279227:H184Y;ENSP00000438885:H4Y	ENSP00000279227:H184Y	H	+	1	0	FERMT3	63735358	0.989000	0.36119	0.996000	0.52242	0.227000	0.25037	2.837000	0.48191	1.915000	0.55452	0.561000	0.74099	CAC		0.706	FERMT3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396297.1		NM_031471		11	9	0	0	0	0.013537	0	11	9		
MEN1	4221	broad.mit.edu	37	11	64575138	64575138	+	Silent	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr11:64575138C>T	ENST00000337652.1	-	4	1187	c.684G>A	c.(682-684)ctG>ctA	p.L228L	MEN1_ENST00000377321.1_Silent_p.L188L|MEN1_ENST00000377316.2_Silent_p.L223L|MEN1_ENST00000377313.1_Silent_p.L228L|MEN1_ENST00000315422.4_Silent_p.L223L|MEN1_ENST00000478548.1_5'Flank|MEN1_ENST00000312049.6_Silent_p.L223L|MEN1_ENST00000443283.1_Silent_p.L228L|MEN1_ENST00000394376.1_Silent_p.L228L|MEN1_ENST00000377326.3_Silent_p.L223L|MEN1_ENST00000394374.2_Silent_p.L228L	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	228	Interaction with FANCD2.		L -> P (in MEN1). {ECO:0000269|PubMed:10849016, ECO:0000269|PubMed:12112656, ECO:0000269|PubMed:12652570}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						ATGATCCTTTCAGGTACAGCC	0.552			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	uc001obj.2		NaN	yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	D|Mis|N|F|S	multiple endocrine neoplasia type 1 gene			E		parathyroid adenoma|pituitary adenoma|pancreatic islet cell|carcinoid	parathyroid tumors|Pancreatic neuroendocrine tumors		0				parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(9)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1)	238						c.(682-684)CTG>CTA		menin isoform 1							110.0	96.0	101.0					11																	64575138		2201	4297	6498	SO:0001819	synonymous_variant	4221	Hyperparathyroidism_Familial_Isolated|Multiple_Endocrine_Neoplasia_type_1	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	g.chr11:64575138C>T	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"""menin"""	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.684G>A	11.37:g.64575138C>T						MEN1_uc001obk.2_Silent_p.L228L|MEN1_uc001obl.2_Silent_p.L188L|MEN1_uc001obm.2_Silent_p.L223L|MEN1_uc001obn.2_Silent_p.L228L|MEN1_uc001obo.2_Silent_p.L228L|MEN1_uc001obp.2_Silent_p.L223L|MEN1_uc001obq.2_Silent_p.L228L|MEN1_uc001obr.2_Silent_p.L228L	p.L228L	NM_130800	NP_570712	O00255	MEN1_HUMAN			4	757	-			228		L -> P (in MEN1).	Interaction with FANCD2.		A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Silent	SNP	ENST00000337652.1	37	c.684G>A	CCDS8083.1																																																																																				0.552	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1				23	22	0	0	0	0.01892	0	23	22		
DPP3	10072	broad.mit.edu	37	11	66259013	66259013	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr11:66259013G>A	ENST00000360510.2	+	8	912	c.847G>A	c.(847-849)Gag>Aag	p.E283K	DPP3_ENST00000453114.1_Missense_Mutation_p.E283K|DPP3_ENST00000532677.1_Missense_Mutation_p.E302K|DPP3_ENST00000541961.1_Missense_Mutation_p.E283K|DPP3_ENST00000531863.1_Missense_Mutation_p.E303K|DPP3_ENST00000530165.1_Missense_Mutation_p.E253K			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	283					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CCAGTATATAGAGAGCTTCAC	0.657											OREG0021109	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001oig.1		NaN																	0				ovary(1)|skin(1)	2						c.(847-849)GAG>AAG		dipeptidyl peptidase III							27.0	32.0	30.0					11																	66259013		2200	4295	6495	SO:0001583	missense	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66259013G>A	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.847G>A	11.37:g.66259013G>A	ENSP00000353701:p.Glu283Lys		OREG0021109	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1090	DPP3_uc001oif.1_Missense_Mutation_p.E283K|DPP3_uc010rpe.1_Missense_Mutation_p.E272K	p.E283K	NM_005700	NP_005691	Q9NY33	DPP3_HUMAN			8	909	+			283					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Missense_Mutation	SNP	ENST00000360510.2	37	c.847G>A	CCDS8141.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.283995	0.40394	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000530165;ENST00000543807	T;T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93;1.93	5.21	5.21	0.72293	.	0.275704	0.41294	D	0.000907	T	0.16896	0.0406	N	0.21583	0.68	0.26406	N	0.976349	B;B	0.13145	0.007;0.0	B;B	0.12837	0.008;0.005	T	0.12656	-1.0539	10	0.19147	T	0.46	.	12.3531	0.55159	0.0:0.1702:0.8298:0.0	.	302;283	G3V1D3;Q9NY33	.;DPP3_HUMAN	K	303;302;283;283;283;253;181	ENSP00000432782:E303K;ENSP00000435284:E302K;ENSP00000353701:E283K;ENSP00000389943:E283K;ENSP00000440502:E283K;ENSP00000436941:E253K	ENSP00000353701:E283K	E	+	1	0	DPP3	66015589	0.959000	0.32827	0.642000	0.29436	0.372000	0.29890	3.078000	0.50096	2.583000	0.87209	0.655000	0.94253	GAG		0.657	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2				16	25	0	0	0	0.00499	0	16	25		
ADRBK1	156	broad.mit.edu	37	11	67052379	67052379	+	Missense_Mutation	SNP	C	C	G	rs1051181		TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr11:67052379C>G	ENST00000308595.5	+	19	2006	c.1716C>G	c.(1714-1716)ttC>ttG	p.F572L	ADRBK1_ENST00000527176.1_3'UTR|ADRBK1_ENST00000526285.1_Intron	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	572	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	GCAACCCCTTCCTGACCCAGT	0.667																																						uc009yrn.1		NaN																	0				large_intestine(1)	1						c.(1714-1716)TTC>TTG		beta-adrenergic receptor kinase 1	Adenosine triphosphate(DB00171)						83.0	60.0	68.0					11																	67052379		2199	4295	6494	SO:0001583	missense	156				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr11:67052379C>G	X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"""Pleckstrin homology (PH) domain containing"""	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.1716C>G	11.37:g.67052379C>G	ENSP00000312262:p.Phe572Leu					ADRBK1_uc009yrm.1_Intron	p.F572L	NM_001619	NP_001610	P25098	ARBK1_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		19	1982	+			572			PH.		B0ZBE1|Q13837|Q6GTT3	Missense_Mutation	SNP	ENST00000308595.5	37	c.1716C>G	CCDS8156.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.327703	0.41197	.	.	ENSG00000173020	ENST00000308595	T	0.73363	-0.74	4.64	1.76	0.24704	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.49916	D	0.000124	T	0.66287	0.2774	L	0.59436	1.845	0.80722	D	1	B	0.23185	0.081	B	0.19391	0.025	T	0.60052	-0.7338	10	0.48119	T	0.1	-12.1505	8.1967	0.31400	0.0:0.6808:0.0:0.3192	.	572	P25098	ARBK1_HUMAN	L	572	ENSP00000312262:F572L	ENSP00000312262:F572L	F	+	3	2	ADRBK1	66808955	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	2.080000	0.41586	0.297000	0.22615	-0.229000	0.12294	TTC		0.667	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1		NM_001619		12	22	0	0	0	0.010729	0	12	22		
SYTL2	54843	broad.mit.edu	37	11	85445049	85445049	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr11:85445049G>C	ENST00000528231.1	-	6	1597	c.1320C>G	c.(1318-1320)atC>atG	p.I440M	SYTL2_ENST00000316356.4_Missense_Mutation_p.I441M|SYTL2_ENST00000524452.1_Missense_Mutation_p.I440M|SYTL2_ENST00000527523.1_Missense_Mutation_p.I392M|SYTL2_ENST00000389960.4_Missense_Mutation_p.I440M	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	440					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TGGGTTCATTGATGGTTGGTG	0.383																																						uc010rth.1		NaN																	0				ovary(2)|large_intestine(1)	3						c.(1318-1320)ATC>ATG		synaptotagmin-like 2 isoform g							158.0	148.0	151.0					11																	85445049		2203	4299	6502	SO:0001583	missense	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85445049G>C	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1320C>G	11.37:g.85445049G>C	ENSP00000431701:p.Ile440Met					SYTL2_uc010rtg.1_Missense_Mutation_p.I441M|SYTL2_uc010rti.1_Missense_Mutation_p.I440M|SYTL2_uc010rtj.1_Missense_Mutation_p.I392M|SYTL2_uc001pbf.3_Missense_Mutation_p.I440M|SYTL2_uc010rtf.1_Missense_Mutation_p.I298M	p.I440M	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	6	1596	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	440					B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	ENST00000528231.1	37	c.1320C>G	CCDS53688.1	.	.	.	.	.	.	.	.	.	.	G	3.524	-0.097060	0.07010	.	.	ENSG00000137501	ENST00000389960;ENST00000316356;ENST00000528231;ENST00000527523;ENST00000524452	T;T;T;T;T	0.26810	1.8;1.82;1.82;1.71;1.8	6.08	4.17	0.49024	.	.	.	.	.	T	0.21186	0.0510	L	0.44542	1.39	0.20926	N	0.99982	P;P;P;P;P	0.43519	0.712;0.809;0.589;0.712;0.712	B;B;B;B;B	0.39531	0.302;0.208;0.071;0.149;0.223	T	0.08534	-1.0717	8	.	.	.	.	8.1653	0.31222	0.079:0.0:0.7625:0.1585	.	392;440;440;441;298	Q9HCH5-14;Q9HCH5-6;Q9HCH5;Q9HCH5-13;Q9HCH5-15	.;.;SYTL2_HUMAN;.;.	M	440;441;440;392;440	ENSP00000374610:I440M;ENSP00000318803:I441M;ENSP00000431701:I440M;ENSP00000434010:I392M;ENSP00000435238:I440M	.	I	-	3	3	SYTL2	85122697	0.018000	0.18449	0.013000	0.15412	0.006000	0.05464	1.373000	0.34272	1.542000	0.49330	0.655000	0.94253	ATC		0.383	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1		NM_206927		30	64	0	0	0	0.00632	0	30	64		
SYTL2	54843	broad.mit.edu	37	11	85445395	85445395	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr11:85445395G>C	ENST00000528231.1	-	6	1251	c.974C>G	c.(973-975)tCc>tGc	p.S325C	SYTL2_ENST00000316356.4_Missense_Mutation_p.S326C|SYTL2_ENST00000524452.1_Missense_Mutation_p.S325C|SYTL2_ENST00000527523.1_Missense_Mutation_p.S277C|SYTL2_ENST00000389960.4_Missense_Mutation_p.S325C	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	325					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.S326F(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TGGCTCCAGGGAGTTTGGGGA	0.448																																						uc010rth.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|large_intestine(1)	3						c.(973-975)TCC>TGC		synaptotagmin-like 2 isoform g							106.0	108.0	107.0					11																	85445395		2203	4299	6502	SO:0001583	missense	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85445395G>C	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.974C>G	11.37:g.85445395G>C	ENSP00000431701:p.Ser325Cys					SYTL2_uc010rtg.1_Missense_Mutation_p.S326C|SYTL2_uc010rti.1_Missense_Mutation_p.S325C|SYTL2_uc010rtj.1_Missense_Mutation_p.S277C|SYTL2_uc001pbf.3_Missense_Mutation_p.S325C|SYTL2_uc010rtf.1_Missense_Mutation_p.S183C	p.S325C	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	6	1250	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	325					B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	ENST00000528231.1	37	c.974C>G	CCDS53688.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.671642	0.29693	.	.	ENSG00000137501	ENST00000389960;ENST00000316356;ENST00000528231;ENST00000527523;ENST00000524452	T;T;T;T;T	0.32515	1.5;1.57;1.55;1.45;1.5	6.06	5.15	0.70609	.	.	.	.	.	T	0.45296	0.1335	L	0.56769	1.78	0.25196	N	0.990093	D;D;D;D;D	0.64830	0.994;0.986;0.972;0.966;0.992	P;P;P;P;P	0.59948	0.86;0.698;0.728;0.779;0.866	T	0.31998	-0.9923	8	.	.	.	.	9.417	0.38528	0.072:0.0:0.7837:0.1442	.	277;325;325;326;183	Q9HCH5-14;Q9HCH5-6;Q9HCH5;Q9HCH5-13;Q9HCH5-15	.;.;SYTL2_HUMAN;.;.	C	325;326;325;277;325	ENSP00000374610:S325C;ENSP00000318803:S326C;ENSP00000431701:S325C;ENSP00000434010:S277C;ENSP00000435238:S325C	.	S	-	2	0	SYTL2	85123043	0.270000	0.24152	0.050000	0.19076	0.063000	0.16089	2.756000	0.47549	2.880000	0.98712	0.650000	0.86243	TCC		0.448	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1		NM_206927		32	74	0	0	0	0.009535	0	32	74		
OR8D2	283160	broad.mit.edu	37	11	124189263	124189263	+	Silent	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr11:124189263G>A	ENST00000357438.2	-	1	921	c.831C>T	c.(829-831)ttC>ttT	p.F277F		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	277						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		TTGTGATGTAGAACACAGAAG	0.423																																						uc010sah.1		NaN																	0				breast(1)|central_nervous_system(1)|pancreas(1)	3						c.(829-831)TTC>TTT		olfactory receptor, family 8, subfamily D,							157.0	161.0	160.0					11																	124189263		2201	4299	6500	SO:0001819	synonymous_variant	283160				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124189263G>A	AF162668	CCDS31707.1	11q24.1	2012-08-09			ENSG00000197263	ENSG00000197263		"""GPCR / Class A : Olfactory receptors"""	8482	protein-coding gene	gene with protein product							Standard	NM_001002918		Approved		uc010sah.2	Q9GZM6	OTTHUMG00000165978	ENST00000357438.2:c.831C>T	11.37:g.124189263G>A							p.F277F	NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)	1	831	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	277			Helical; Name=7; (Potential).		B9EH49|Q6IFR0	Silent	SNP	ENST00000357438.2	37	c.831C>T	CCDS31707.1																																																																																				0.423	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387286.1		NM_001002918		33	54	0	0	0	0.013726	0	33	54		
KCNJ1	3758	broad.mit.edu	37	11	128709677	128709677	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr11:128709677G>C	ENST00000392664.2	-	2	635	c.519C>G	c.(517-519)ttC>ttG	p.F173L	KCNJ1_ENST00000392666.1_Missense_Mutation_p.F154L|KCNJ1_ENST00000440599.2_Missense_Mutation_p.F154L|KCNJ1_ENST00000392665.2_Missense_Mutation_p.F154L|KCNJ1_ENST00000324036.3_Missense_Mutation_p.F154L	NM_000220.4	NP_000211.1	P48048	KCNJ1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	173					cardiovascular system development (GO:0072358)|excretion (GO:0007588)|kidney development (GO:0001822)|post-embryonic development (GO:0009791)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of G-protein activated inward rectifier potassium channel activity (GO:1900128)|renal sodium ion absorption (GO:0070294)|synaptic transmission (GO:0007268)|tissue homeostasis (GO:0001894)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Bethanidine(DB00217)|Glimepiride(DB00222)|Glyburide(DB01016)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Tolazamide(DB00839)|Tolbutamide(DB01124)|Yohimbine(DB01392)	CCCCACACATGAAAGAATTGA	0.458																																						uc001qeo.1		NaN																	0				ovary(3)|breast(1)	4						c.(517-519)TTC>TTG		potassium inwardly-rectifying channel J1 isoform	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)						74.0	74.0	74.0					11																	128709677		2201	4297	6498	SO:0001583	missense	3758				excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity	g.chr11:128709677G>C	BC063109	CCDS8476.1, CCDS8477.1	11q24	2011-07-05			ENSG00000151704	ENSG00000151704		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6255	protein-coding gene	gene with protein product		600359				7680431, 8190102, 16382105	Standard	NM_153765		Approved	Kir1.1, ROMK1	uc001qeo.2	P48048	OTTHUMG00000048247	ENST00000392664.2:c.519C>G	11.37:g.128709677G>C	ENSP00000376432:p.Phe173Leu					KCNJ1_uc001qep.1_Missense_Mutation_p.F154L|KCNJ1_uc001qeq.1_Missense_Mutation_p.F154L|KCNJ1_uc001qer.1_Missense_Mutation_p.F154L|KCNJ1_uc001qes.1_Missense_Mutation_p.F154L	p.F173L	NM_000220	NP_000211	P48048	IRK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	2	570	-	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)	173			Helical; Name=M2; (By similarity).		B2RMR4|Q6LD67	Missense_Mutation	SNP	ENST00000392664.2	37	c.519C>G	CCDS8476.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.791931	0.70452	.	.	ENSG00000151704	ENST00000392665;ENST00000392666;ENST00000440599;ENST00000324036;ENST00000392664	D;D;D;D;D	0.94457	-3.43;-3.43;-3.43;-3.43;-3.43	5.98	5.06	0.68205	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.000000	0.85682	D	0.000000	D	0.96090	0.8726	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94977	0.8122	10	0.51188	T	0.08	.	10.1291	0.42667	0.1968:0.0:0.8032:0.0	.	173	P48048	IRK1_HUMAN	L	154;154;154;154;173	ENSP00000376433:F154L;ENSP00000376434:F154L;ENSP00000406320:F154L;ENSP00000316233:F154L;ENSP00000376432:F173L	ENSP00000316233:F154L	F	-	3	2	KCNJ1	128214887	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	1.994000	0.40757	2.838000	0.97847	0.563000	0.77884	TTC		0.458	KCNJ1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386233.1		NM_000220		36	51	0	0	0	0.019004	0	36	51		
CHD4	1108	broad.mit.edu	37	12	6700750	6700750	+	Splice_Site	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr12:6700750C>T	ENST00000357008.2	-	22	3386		c.e22-1		CHD4_ENST00000309577.6_Splice_Site|CHD4_ENST00000544484.1_Splice_Site|CHD4_ENST00000544040.1_Splice_Site	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4						ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						TCTTGGTCATCTGCAAAAGAA	0.453																																					Colon(32;586 792 4568 16848 45314)	uc001qpo.2		NaN																	0				central_nervous_system(2)	2						c.e22-1		chromodomain helicase DNA binding protein 4							217.0	201.0	206.0					12																	6700750		2203	4300	6503	SO:0001630	splice_region_variant	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6700750C>T	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.3223-1G>A	12.37:g.6700750C>T						CHD4_uc001qpn.2_Splice_Site_p.M1068_splice|CHD4_uc001qpp.2_Splice_Site_p.M1072_splice	p.M1075_splice	NM_001273	NP_001264	Q14839	CHD4_HUMAN			22	3387	-								Q8IXZ5	Splice_Site	SNP	ENST00000357008.2	37	c.3223_splice	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.020669	0.54576	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6317	0.91361	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHD4	6571011	1.000000	0.71417	0.996000	0.52242	0.771000	0.43674	6.672000	0.74477	2.409000	0.81822	0.655000	0.94253	.		0.453	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_001273	Intron	67	89	0	0	0	0.01441	0	67	89		
DENND5B	160518	broad.mit.edu	37	12	31605240	31605240	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr12:31605240C>G	ENST00000389082.5	-	5	1527	c.1263G>C	c.(1261-1263)aaG>aaC	p.K421N	DENND5B_ENST00000536562.1_Missense_Mutation_p.K456N|DENND5B_ENST00000354285.4_Missense_Mutation_p.K443N|DENND5B_ENST00000306833.6_Missense_Mutation_p.K456N|snoU13_ENST00000458765.1_RNA	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	421					positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GAACCATATTCTTCAGTTTGC	0.408																																						uc001rki.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1261-1263)AAG>AAC		DENN/MADD domain containing 5B							124.0	119.0	120.0					12																	31605240		1904	4131	6035	SO:0001583	missense	160518					integral to membrane		g.chr12:31605240C>G	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.1263G>C	12.37:g.31605240C>G	ENSP00000373734:p.Lys421Asn					DENND5B_uc001rkh.1_Missense_Mutation_p.K456N|DENND5B_uc009zjq.1_Missense_Mutation_p.K340N|DENND5B_uc001rkj.2_Missense_Mutation_p.K443N|DENND5B_uc001rkk.1_Missense_Mutation_p.K343N	p.K421N	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN			5	1449	-			421					B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	ENST00000389082.5	37	c.1263G>C	CCDS44857.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.388354	0.61956	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562;ENST00000354285;ENST00000546299	T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45	4.67	4.67	0.58626	.	0.281633	0.32901	N	0.005504	T	0.58509	0.2127	L	0.59436	1.845	0.80722	D	1	P;P;P;P;B	0.39940	0.486;0.696;0.696;0.57;0.018	B;P;P;B;B	0.47044	0.236;0.516;0.535;0.196;0.012	T	0.54221	-0.8326	10	0.22706	T	0.39	-2.8184	17.7861	0.88538	0.0:1.0:0.0:0.0	.	456;343;443;421;456	Q6ZUT9-2;Q6ZUT9-3;Q6ZUT9-4;Q6ZUT9;G3V1S3	.;.;.;DEN5B_HUMAN;.	N	421;456;456;443;373	ENSP00000373734:K421N;ENSP00000306482:K456N;ENSP00000444889:K456N;ENSP00000346238:K443N;ENSP00000442938:K373N	ENSP00000306482:K456N	K	-	3	2	DENND5B	31496507	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	2.085000	0.41634	2.421000	0.82119	0.563000	0.77884	AAG		0.408	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1		NM_144973		31	52	0	0	0	0.012213	0	31	52		
LRRK2	120892	broad.mit.edu	37	12	40699617	40699617	+	Silent	SNP	C	C	T	rs201775131		TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr12:40699617C>T	ENST00000298910.7	+	28	3866	c.3808C>T	c.(3808-3810)Ctg>Ttg	p.L1270L		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1270					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TCTTGAAAATCTGACATCTCT	0.403																																						uc001rmg.3		NaN																	0				ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.(3808-3810)CTG>TTG		leucine-rich repeat kinase 2							86.0	86.0	86.0					12																	40699617		2203	4300	6503	SO:0001819	synonymous_variant	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40699617C>T	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.3808C>T	12.37:g.40699617C>T						LRRK2_uc009zjw.2_Silent_p.L108L|LRRK2_uc001rmi.2_Silent_p.L103L	p.L1270L	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			28	3929	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1270			LRR 12.		A6NJU2|Q6ZS50|Q8NCX9	Silent	SNP	ENST00000298910.7	37	c.3808C>T	CCDS31774.1																																																																																				0.403	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1		XM_058513		20	32	0	0	0	0.008871	0	20	32		
KMT2D	8085	broad.mit.edu	37	12	49434621	49434621	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr12:49434621G>A	ENST00000301067.7	-	31	6931	c.6932C>T	c.(6931-6933)tCc>tTc	p.S2311F		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2311	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GGTGCCTGAGGAGGGTGAGTC	0.612																																						uc001rta.3		NaN								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(6931-6933)TCC>TTC		myeloid/lymphoid or mixed-lineage leukemia 2							24.0	27.0	26.0					12																	49434621		1858	4094	5952	SO:0001583	missense	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49434621G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.6932C>T	12.37:g.49434621G>A	ENSP00000301067:p.Ser2311Phe	HNSCC(34;0.089)					p.S2311F	NM_003482	NP_003473	O14686	MLL2_HUMAN			31	6932	-			2311			Pro-rich.		O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.6932C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	8.365	0.834038	0.16820	.	.	ENSG00000167548	ENST00000301067	D	0.84516	-1.86	4.93	4.93	0.64822	.	0.000000	0.36303	N	0.002675	D	0.87418	0.6172	L	0.34521	1.04	0.32875	D	0.50975	D	0.65815	0.995	D	0.63597	0.916	D	0.90465	0.4449	10	0.87932	D	0	.	15.4323	0.75112	0.0:0.0:1.0:0.0	.	2311	O14686	MLL2_HUMAN	F	2311	ENSP00000301067:S2311F	ENSP00000301067:S2311F	S	-	2	0	MLL2	47720888	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.834000	0.62774	2.455000	0.83008	0.655000	0.94253	TCC		0.612	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2				16	23	0	0	0	0.024245	0	16	23		
SMARCC2	6601	broad.mit.edu	37	12	56563943	56563943	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr12:56563943C>G	ENST00000267064.4	-	22	2390	c.2304G>C	c.(2302-2304)gaG>gaC	p.E768D	SMARCC2_ENST00000550164.1_Missense_Mutation_p.E799D|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000394023.3_Missense_Mutation_p.E799D|SMARCC2_ENST00000347471.4_Missense_Mutation_p.E799D	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	768	Glu-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GCTCCTTCTTCTCATCTGTGG	0.537																																						uc001skb.2		NaN																	0				lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6						c.(2302-2304)GAG>GAC		SWI/SNF-related matrix-associated							114.0	92.0	99.0					12																	56563943		2203	4300	6503	SO:0001583	missense	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56563943C>G	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.2304G>C	12.37:g.56563943C>G	ENSP00000267064:p.Glu768Asp					SMARCC2_uc001skd.2_Missense_Mutation_p.E799D|SMARCC2_uc001ska.2_Missense_Mutation_p.E799D|SMARCC2_uc001skc.2_Missense_Mutation_p.E798D|SMARCC2_uc010sqf.1_Missense_Mutation_p.E688D	p.E768D	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		22	2410	-			768			Glu-rich.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	ENST00000267064.4	37	c.2304G>C	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.640781	0.29157	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T;T	0.50001	1.08;0.76;0.79;0.79	4.81	2.96	0.34315	.	0.780077	0.11444	N	0.563511	T	0.21801	0.0525	N	0.03154	-0.405	0.30745	N	0.745718	B;B;B;B;B	0.11235	0.002;0.004;0.002;0.002;0.004	B;B;B;B;B	0.11329	0.003;0.006;0.003;0.003;0.006	T	0.22034	-1.0228	10	0.27785	T	0.31	-13.6062	4.78	0.13197	0.1545:0.6134:0.1495:0.0826	.	688;799;803;768;799	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	D	799;799;799;768	ENSP00000377591:E799D;ENSP00000449396:E799D;ENSP00000302919:E799D;ENSP00000267064:E768D	ENSP00000267064:E768D	E	-	3	2	SMARCC2	54850210	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	0.959000	0.29240	0.547000	0.28938	0.467000	0.42956	GAG		0.537	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1				11	26	0	0	0	0.013537	0	11	26		
SLC39A5	283375	broad.mit.edu	37	12	56629471	56629471	+	Missense_Mutation	SNP	G	G	C	rs145666015	byFrequency	TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr12:56629471G>C	ENST00000266980.4	+	6	1225	c.932G>C	c.(931-933)cGa>cCa	p.R311P	ANKRD52_ENST00000548241.1_5'Flank|SLC39A5_ENST00000454355.2_Missense_Mutation_p.R311P	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	311					cellular response to zinc ion starvation (GO:0034224)|G1 to G0 transition involved in cell differentiation (GO:0070315)|neural precursor cell proliferation (GO:0061351)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTGCGGCACCGAGGGCTCAGG	0.637																																						uc010sqj.1		NaN																	0				ovary(1)|skin(1)	2						c.(931-933)CGA>CCA		solute carrier family 39 (metal ion							146.0	146.0	146.0					12																	56629471		2203	4300	6503	SO:0001583	missense	283375				zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity	g.chr12:56629471G>C		CCDS8912.2	12q13.3	2013-07-17	2013-07-17		ENSG00000139540	ENSG00000139540		"""Solute carriers"""	20502	protein-coding gene	gene with protein product		608730	"""solute carrier family 39 (metal ion transporter), member 5"""				Standard	NM_173596		Approved		uc010sqj.2	Q6ZMH5	OTTHUMG00000156962	ENST00000266980.4:c.932G>C	12.37:g.56629471G>C	ENSP00000266980:p.Arg311Pro					SLC39A5_uc010sqi.1_Missense_Mutation_p.R202P|SLC39A5_uc010sqk.1_Missense_Mutation_p.R311P	p.R311P	NM_173596	NP_775867	Q6ZMH5	S39A5_HUMAN			8	1189	+			311			Cytoplasmic (Potential).		B2R808|Q8N6Y3	Missense_Mutation	SNP	ENST00000266980.4	37	c.932G>C	CCDS8912.2	.	.	.	.	.	.	.	.	.	.	G	9.785	1.176233	0.21704	.	.	ENSG00000139540	ENST00000454355;ENST00000266980	T;T	0.50813	0.73;0.73	3.7	0.849	0.18972	.	1.501380	0.04792	N	0.431796	T	0.43875	0.1267	L	0.33245	0.995	0.31020	N	0.718218	P;P	0.42123	0.771;0.771	P;P	0.47134	0.539;0.458	T	0.42899	-0.9424	10	0.33141	T	0.24	-8.019	6.1604	0.20360	0.3304:0.0:0.6696:0.0	.	311;202	Q6ZMH5;B4DPG8	S39A5_HUMAN;.	P	311	ENSP00000405360:R311P;ENSP00000266980:R311P	ENSP00000266980:R311P	R	+	2	0	SLC39A5	54915738	.	.	0.439000	0.26833	0.971000	0.66376	.	.	0.184000	0.20083	-0.793000	0.03317	CGA		0.637	SLC39A5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346834.1		NM_173596		41	86	0	0	0	0.023175	0	41	86		
TMEM194A	23306	broad.mit.edu	37	12	57472433	57472433	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr12:57472433C>G	ENST00000300128.4	-	1	119	c.96G>C	c.(94-96)ttG>ttC	p.L32F	TMEM194A_ENST00000553654.1_Intron|TMEM194A_ENST00000379391.3_Missense_Mutation_p.L32F	NM_001130963.1	NP_001124435.1	O14524	T194A_HUMAN	transmembrane protein 194A	32						integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CGGAGAGGATCAAGAGTAGCC	0.657																																						uc001smy.2		NaN																	0					0						c.(94-96)TTG>TTC		transmembrane protein 194A isoform a							40.0	54.0	49.0					12																	57472433		2203	4298	6501	SO:0001583	missense	23306					integral to membrane		g.chr12:57472433C>G	AB006624	CCDS31841.1, CCDS44927.1	12q13.3	2008-06-10	2008-06-10	2008-06-10		ENSG00000166881			29001	protein-coding gene	gene with protein product			"""transmembrane protein 194"""	TMEM194			Standard	NM_015257		Approved	KIAA0286	uc001smy.3	O14524		ENST00000300128.4:c.96G>C	12.37:g.57472433C>G	ENSP00000300128:p.Leu32Phe					TMEM194A_uc001smx.2_Missense_Mutation_p.L32F|TMEM194A_uc010sra.1_5'UTR	p.L32F	NM_001130963	NP_001124435	O14524	T194A_HUMAN			1	142	-			32			Helical; (Potential).		Q17R72|Q68DH0|Q6IQ25	Missense_Mutation	SNP	ENST00000300128.4	37	c.96G>C	CCDS44927.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.522734	0.64747	.	.	ENSG00000166881	ENST00000379391;ENST00000300128	T;T	0.63913	-0.07;0.43	3.93	3.93	0.45458	.	0.474742	0.18067	N	0.152758	T	0.71459	0.3342	L	0.56769	1.78	0.44142	D	0.996938	D;D	0.69078	0.997;0.979	D;P	0.63597	0.916;0.662	T	0.69716	-0.5070	10	0.41790	T	0.15	-1.1682	11.7443	0.51811	0.0:1.0:0.0:0.0	.	32;32	O14524;O14524-2	T194A_HUMAN;.	F	32	ENSP00000368701:L32F;ENSP00000300128:L32F	ENSP00000300128:L32F	L	-	3	2	TMEM194A	55758700	0.603000	0.26924	0.984000	0.44739	0.378000	0.30076	0.805000	0.27112	2.474000	0.83562	0.655000	0.94253	TTG		0.657	TMEM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411272.1		NM_015257		15	35	0	0	0	0.00499	0	15	35		
LRP1	4035	broad.mit.edu	37	12	57550665	57550665	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr12:57550665C>G	ENST00000243077.3	+	10	1989	c.1523C>G	c.(1522-1524)tCc>tGc	p.S508C		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	508	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)	CGCTGCCGTTCCGGCTTCAGC	0.632																																						uc001snd.2		NaN																	0				ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(1522-1524)TCC>TGC		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						30.0	29.0	29.0					12																	57550665		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.chr12:57550665C>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.1523C>G	12.37:g.57550665C>G	ENSP00000243077:p.Ser508Cys						p.S508C	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	10	1989	+			508			EGF-like 3.|Extracellular (Potential).		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.1523C>G	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.530665	0.64860	.	.	ENSG00000123384	ENST00000243077	D	0.97752	-4.52	5.12	5.12	0.69794	Epidermal growth factor-like (1);EGF-like region, conserved site (1);	0.000000	0.64402	D	0.000002	D	0.98394	0.9466	M	0.76574	2.34	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	D	0.97889	1.0296	10	0.37606	T	0.19	.	16.4636	0.84071	0.0:1.0:0.0:0.0	.	508	Q07954	LRP1_HUMAN	C	508	ENSP00000243077:S508C	ENSP00000243077:S508C	S	+	2	0	LRP1	55836932	1.000000	0.71417	0.988000	0.46212	0.882000	0.50991	7.588000	0.82629	2.837000	0.97791	0.591000	0.81541	TCC		0.632	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2		NM_002332		5	13	0	0	0	0.021553	0	5	13		
TBK1	29110	broad.mit.edu	37	12	64882283	64882283	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr12:64882283G>A	ENST00000331710.5	+	12	1696	c.1357G>A	c.(1357-1359)Gat>Aat	p.D453N		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	453					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of gene expression (GO:0010629)|negative regulation of type I interferon production (GO:0032480)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon production (GO:0032606)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)	ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		AATTAAAGATGATTACAATGA	0.269																																						uc001ssc.1		NaN																	0				central_nervous_system(2)|ovary(1)|large_intestine(1)|breast(1)	5						c.(1357-1359)GAT>AAT		TANK-binding kinase 1							38.0	38.0	38.0					12																	64882283		2198	4297	6495	SO:0001583	missense	29110				I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr12:64882283G>A	AF191838	CCDS8968.1	12q14.2	2006-06-10			ENSG00000183735	ENSG00000183735			11584	protein-coding gene	gene with protein product		604834				10581243, 10783893	Standard	NM_013254		Approved	NAK	uc001ssc.2	Q9UHD2	OTTHUMG00000168796	ENST00000331710.5:c.1357G>A	12.37:g.64882283G>A	ENSP00000329967:p.Asp453Asn						p.D453N	NM_013254	NP_037386	Q9UHD2	TBK1_HUMAN		GBM - Glioblastoma multiforme(28;0.0386)	12	1419	+			453					A8K4S4|Q8IYV3|Q9NUJ5	Missense_Mutation	SNP	ENST00000331710.5	37	c.1357G>A	CCDS8968.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635072	0.67130	.	.	ENSG00000183735	ENST00000331710	T	0.67171	-0.25	5.25	4.36	0.52297	.	0.150685	0.64402	D	0.000020	T	0.56673	0.2001	L	0.27053	0.805	0.45554	D	0.998508	P	0.40970	0.734	B	0.42798	0.398	T	0.54234	-0.8324	9	.	.	.	-15.0456	14.1308	0.65253	0.0727:0.0:0.9273:0.0	.	453	Q9UHD2	TBK1_HUMAN	N	453	ENSP00000329967:D453N	.	D	+	1	0	TBK1	63168550	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.019000	0.88732	1.352000	0.45808	0.655000	0.94253	GAT		0.269	TBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401130.1		NM_013254		7	8	0	0	0	0.00308	0	7	8		
RPL6	6128	broad.mit.edu	37	12	112843711	112843711	+	Silent	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr12:112843711C>T	ENST00000424576.2	-	6	845	c.660G>A	c.(658-660)aaG>aaA	p.K220K	RPL6_ENST00000202773.9_Silent_p.K220K	NM_001024662.1	NP_001019833.1	Q02878	RL6_HUMAN	ribosomal protein L6	220					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|large_intestine(6)|lung(3)	10						TCCGCAGCTTCTTCTTCTTGA	0.423																																						uc001ttu.2		NaN																	0				large_intestine(1)	1						c.(658-660)AAG>AAA		ribosomal protein L6							76.0	82.0	80.0					12																	112843711		2203	4297	6500	SO:0001819	synonymous_variant	6128				endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|RNA binding|structural constituent of ribosome	g.chr12:112843711C>T	X69391	CCDS9162.1	12q24.13	2014-06-05				ENSG00000089009		"""L ribosomal proteins"""	10362	protein-coding gene	gene with protein product		603703		TXREB1		8479925, 8457378	Standard	XM_005253920		Approved	TAXREB107, L6	uc001ttv.3	Q02878		ENST00000424576.2:c.660G>A	12.37:g.112843711C>T						RPL6_uc001ttv.2_Silent_p.K220K	p.K220K	NM_001024662	NP_001019833	Q02878	RL6_HUMAN			6	889	-			220					Q2M3Q3|Q8WW97	Silent	SNP	ENST00000424576.2	37	c.660G>A	CCDS9162.1																																																																																				0.423	RPL6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405422.1				16	31	0	0	0	0.028581	0	16	31		
TMEM120B	144404	broad.mit.edu	37	12	122199641	122199641	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr12:122199641C>G	ENST00000449592.2	+	6	649	c.548C>G	c.(547-549)tCa>tGa	p.S183*	TMEM120B_ENST00000540377.1_5'UTR	NM_001080825.2	NP_001074294.2	A0PK00	T120B_HUMAN	transmembrane protein 120B	183						integral component of membrane (GO:0016021)		p.S183*(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		AGCAACGGCTCAAGGTACCTG	0.557																																						uc001ubc.3		NaN																	2	Substitution - Nonsense(2)		lung(2)		0						c.(547-549)TCA>TGA		transmembrane protein 120B							96.0	92.0	93.0					12																	122199641		2022	4179	6201	SO:0001587	stop_gained	144404					integral to membrane		g.chr12:122199641C>G	BC127768	CCDS41852.1	12q24.31	2007-08-01			ENSG00000188735	ENSG00000188735			32008	protein-coding gene	gene with protein product							Standard	NM_001080825		Approved		uc001ubc.4	A0PK00	OTTHUMG00000169076	ENST00000449592.2:c.548C>G	12.37:g.122199641C>G	ENSP00000404991:p.Ser183*					TMEM120B_uc009zxh.2_Nonsense_Mutation_p.S183*	p.S183*	NM_001080825	NP_001074294	A0PK00	T120B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)	6	692	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		183					A0PK01|B3KX33	Nonsense_Mutation	SNP	ENST00000449592.2	37	c.548C>G	CCDS41852.1	.	.	.	.	.	.	.	.	.	.	C	38	6.816562	0.97861	.	.	ENSG00000188735	ENST00000449592;ENST00000541467	.	.	.	5.62	5.62	0.85841	.	0.061071	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-6.4405	17.1968	0.86894	0.0:1.0:0.0:0.0	.	.	.	.	X	183;162	.	ENSP00000345152:S183X	S	+	2	0	TMEM120B	120684024	1.000000	0.71417	0.959000	0.39883	0.787000	0.44495	7.511000	0.81718	2.655000	0.90218	0.650000	0.86243	TCA		0.557	TMEM120B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402158.1		NM_001080825		14	31	0	0	0	0.020292	0	14	31		
ZCCHC8	55596	broad.mit.edu	37	12	122962400	122962400	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr12:122962400C>G	ENST00000336229.4	-	13	1463	c.1333G>C	c.(1333-1335)Gag>Cag	p.E445Q	ZCCHC8_ENST00000543897.1_Missense_Mutation_p.E207Q|ZCCHC8_ENST00000538116.1_Missense_Mutation_p.E56Q|ZCCHC8_ENST00000536306.1_Missense_Mutation_p.E207Q	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	445					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		GAATCGAGCTCCATGTCGGCG	0.463																																						uc001ucn.2		NaN																	0					0						c.(1333-1335)GAG>CAG		zinc finger, CCHC domain containing 8							93.0	92.0	92.0					12																	122962400		1863	4096	5959	SO:0001583	missense	55596					catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding	g.chr12:122962400C>G	BC017704		12q24.31	2014-04-14				ENSG00000033030		"""Zinc fingers, CCHC domain containing"""	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.1333G>C	12.37:g.122962400C>G	ENSP00000337313:p.Glu445Gln					ZCCHC8_uc001ucl.2_Missense_Mutation_p.E56Q|ZCCHC8_uc001ucm.2_Missense_Mutation_p.E207Q|ZCCHC8_uc009zxp.2_Missense_Mutation_p.E207Q|ZCCHC8_uc009zxq.2_Missense_Mutation_p.E207Q	p.E445Q	NM_017612	NP_060082	Q6NZY4	ZCHC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)	13	1464	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		445					Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Missense_Mutation	SNP	ENST00000336229.4	37	c.1333G>C		.	.	.	.	.	.	.	.	.	.	C	14.06	2.423172	0.43020	.	.	ENSG00000033030	ENST00000536306;ENST00000543897;ENST00000336229;ENST00000538116;ENST00000542892;ENST00000544054	T;T;T;T	0.53857	0.63;0.63;0.6;0.8	5.62	5.62	0.85841	.	0.280412	0.44483	D	0.000442	T	0.54565	0.1866	M	0.67953	2.075	0.53688	D	0.999976	P	0.36282	0.546	B	0.34180	0.177	T	0.57562	-0.7790	10	0.48119	T	0.1	-7.592	19.2695	0.94003	0.0:1.0:0.0:0.0	.	445	Q6NZY4	ZCHC8_HUMAN	Q	207;207;445;56;56;207	ENSP00000441423:E207Q;ENSP00000438993:E207Q;ENSP00000337313:E445Q;ENSP00000440028:E56Q	ENSP00000337313:E445Q	E	-	1	0	ZCCHC8	121528353	1.000000	0.71417	1.000000	0.80357	0.069000	0.16628	4.878000	0.63093	2.631000	0.89168	0.650000	0.86243	GAG		0.463	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_017612		10	14	0	0	0	0.006214	0	10	14		
NCOR2	9612	broad.mit.edu	37	12	124821437	124821437	+	Missense_Mutation	SNP	G	G	A	rs200307018	byFrequency	TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr12:124821437G>A	ENST00000405201.1	-	38	5977	c.5977C>T	c.(5977-5979)Cgc>Tgc	p.R1993C	NCOR2_ENST00000397355.1_Missense_Mutation_p.R1984C|NCOR2_ENST00000404621.1_Missense_Mutation_p.R1983C|NCOR2_ENST00000429285.2_Missense_Mutation_p.R1983C|NCOR2_ENST00000356219.3_Missense_Mutation_p.R2000C|NCOR2_ENST00000404121.2_Missense_Mutation_p.R1554C			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2004					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCAGGGGTGCGGGCGATGGTG	0.731													g|||	2	0.000399361	0.0	0.0	5008	,	,		10803	0.0		0.002	False		,,,				2504	0.0					uc010tay.1		NaN																	0				skin(3)|ovary(1)	4						c.(6007-6009)CGC>TGC		nuclear receptor co-repressor 2 isoform 1			CYS/ARG,CYS/ARG,CYS/ARG	0,3928		0,0,1964	18.0	24.0	22.0		5947,5947,5977	4.8	1.0	12		22	1,8207		0,1,4103	no	missense,missense,missense	NCOR2	NM_001077261.3,NM_001206654.1,NM_006312.5	180,180,180	0,1,6067	AA,AG,GG		0.0122,0.0,0.0082	probably-damaging,probably-damaging,probably-damaging	1983/2459,1983/2505,1993/2515	124821437	1,12135	1964	4104	6068	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124821437G>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.5977C>T	12.37:g.124821437G>A	ENSP00000384018:p.Arg1993Cys					NCOR2_uc010taz.1_Missense_Mutation_p.R1987C|NCOR2_uc010tax.1_Missense_Mutation_p.R114C	p.R2003C	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	40	6163	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		2004					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.6007C>T	CCDS41858.2	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	g	11.88	1.769686	0.31320	0.0	1.22E-4	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000447675;ENST00000429285	T;T;T;T;T;T	0.19806	2.12;2.39;2.13;2.39;2.13;2.39	4.78	4.78	0.61160	.	0.454073	0.24271	N	0.039992	T	0.29976	0.0750	L	0.27053	0.805	0.37747	D	0.925826	D;D;D	0.89917	1.0;1.0;1.0	P;D;P	0.65874	0.869;0.939;0.87	T	0.15752	-1.0426	10	0.72032	D	0.01	-23.0238	11.2868	0.49226	0.0:0.0:0.6814:0.3186	.	1984;1993;2004	C9J239;C9JFD3;Q9Y618	.;.;NCOR2_HUMAN	C	1993;1983;2000;1984;1992;1554;85;1983	ENSP00000384018:R1993C;ENSP00000384202:R1983C;ENSP00000348551:R2000C;ENSP00000380513:R1984C;ENSP00000385618:R1554C;ENSP00000400281:R1983C	ENSP00000348551:R2000C	R	-	1	0	NCOR2	123387390	1.000000	0.71417	0.972000	0.41901	0.335000	0.28730	4.063000	0.57499	2.185000	0.69588	0.556000	0.70494	CGC		0.731	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2		NM_006312		8	13	0	0	0	0.00308	0	8	13		
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs10902490|rs528214697	byFrequency	TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr12:132547093A>G	ENST00000333577.4	+	48	8398	c.8289A>G	c.(8287-8289)caA>caG	p.Q2763Q	EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000330386.6_Silent_p.Q2646Q			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		6	36	0	0	0	0.021553	0	6	36		
ZMYM5	9205	broad.mit.edu	37	13	20411884	20411884	+	Missense_Mutation	SNP	G	G	A	rs369278619		TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr13:20411884G>A	ENST00000337963.4	-	6	1214	c.950C>T	c.(949-951)tCt>tTt	p.S317F	ZMYM5_ENST00000382907.4_3'UTR|ZMYM5_ENST00000382905.4_Missense_Mutation_p.S317F	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	317						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		AGACAAACAAGATGTACTATA	0.338																																						uc010tcn.1		NaN																	0					0						c.(949-951)TCT>TTT		zinc finger protein 237 isoform 3							55.0	57.0	57.0					13																	20411884		2203	4293	6496	SO:0001583	missense	9205					nucleus	zinc ion binding	g.chr13:20411884G>A	AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"""Zinc fingers, MYM type"""	13029	protein-coding gene	gene with protein product			"""zinc finger protein 237"""	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.950C>T	13.37:g.20411884G>A	ENSP00000337034:p.Ser317Phe					ZMYM5_uc001umm.1_Missense_Mutation_p.S141F|ZMYM5_uc001umn.2_Missense_Mutation_p.S317F|ZMYM5_uc001umo.2_3'UTR	p.S317F	NM_001142684	NP_001136156	Q9UJ78	ZMYM5_HUMAN		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)	6	1215	-		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	317			MYM-type 2.		B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	Missense_Mutation	SNP	ENST00000337963.4	37	c.950C>T		.	.	.	.	.	.	.	.	.	.	G	11.40	1.628784	0.28978	.	.	ENSG00000132950	ENST00000337963;ENST00000502168;ENST00000382905	T;T;T	0.26223	2.12;2.11;1.75	4.62	2.86	0.33363	.	0.457921	0.25052	N	0.033507	T	0.28034	0.0691	L	0.54323	1.7	0.18873	N	0.999987	P;P	0.40398	0.573;0.716	P;B	0.46208	0.507;0.325	T	0.12811	-1.0533	10	0.72032	D	0.01	-1.1559	5.222	0.15373	0.0778:0.1445:0.628:0.1497	.	317;317	Q9UJ78;Q9UJ78-1	ZMYM5_HUMAN;.	F	317;307;317	ENSP00000337034:S317F;ENSP00000445779:S307F;ENSP00000372361:S317F	ENSP00000337034:S317F	S	-	2	0	ZMYM5	19309884	1.000000	0.71417	0.000000	0.03702	0.303000	0.27691	2.518000	0.45537	0.654000	0.30846	0.462000	0.41574	TCT		0.338	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_014242		10	48	0	0	0	0.010729	0	10	48		
AKAP11	11215	broad.mit.edu	37	13	42874879	42874879	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr13:42874879C>T	ENST00000025301.2	+	8	2172	c.1997C>T	c.(1996-1998)tCa>tTa	p.S666L		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	666					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TGTCAGTTTTCATATCCTCAA	0.403																																						uc001uys.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1996-1998)TCA>TTA		A-kinase anchor protein 11							80.0	72.0	75.0					13																	42874879		2203	4300	6503	SO:0001583	missense	11215				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	g.chr13:42874879C>T	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.1997C>T	13.37:g.42874879C>T	ENSP00000025301:p.Ser666Leu						p.S666L	NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)	8	2172	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	666					O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	c.1997C>T	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.114761	0.77210	.	.	ENSG00000023516	ENST00000025301	T	0.27720	1.65	5.98	5.98	0.97165	.	0.143669	0.47093	D	0.000249	T	0.58991	0.2161	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58457	-0.7633	10	0.87932	D	0	.	20.4366	0.99092	0.0:1.0:0.0:0.0	.	666	Q9UKA4	AKA11_HUMAN	L	666	ENSP00000025301:S666L	ENSP00000025301:S666L	S	+	2	0	AKAP11	41772879	1.000000	0.71417	0.968000	0.41197	0.628000	0.37860	7.449000	0.80643	2.843000	0.97960	0.585000	0.79938	TCA		0.403	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2		NM_016248		29	78	0	0	0	0.00632	0	29	78		
MLNR	2862	broad.mit.edu	37	13	49796426	49796426	+	Silent	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr13:49796426G>A	ENST00000218721.1	+	2	1152	c.1152G>A	c.(1150-1152)agG>agA	p.R384R	MLNR_ENST00000398307.1_3'UTR	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	motilin receptor	384					digestion (GO:0007586)|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)|growth hormone-releasing hormone receptor activity (GO:0016520)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		ACAGAAGCAGGGACACTGCGG	0.567																																						uc010tgj.1		NaN																	0					0						c.(1150-1152)AGG>AGA		motilin receptor							61.0	62.0	61.0					13																	49796426		2203	4300	6503	SO:0001819	synonymous_variant	2862				digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity	g.chr13:49796426G>A	AF034632	CCDS9414.1	13q14-q21	2012-08-08	2004-05-27	2004-05-28	ENSG00000102539	ENSG00000102539		"""GPCR / Class A : Motilin receptors"""	4495	protein-coding gene	gene with protein product		602885	"""G protein-coupled receptor 38"""	GPR38		9441746	Standard	NM_001507		Approved		uc010tgj.2	O43193	OTTHUMG00000016909	ENST00000218721.1:c.1152G>A	13.37:g.49796426G>A							p.R384R	NM_001507	NP_001498	O43193	MTLR_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)	2	1152	+		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	384			Cytoplasmic (Potential).			Silent	SNP	ENST00000218721.1	37	c.1152G>A	CCDS9414.1																																																																																				0.567	MLNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044897.1		NM_001507		18	39	0	0	0	0.00499	0	18	39		
RAP2A	5911	broad.mit.edu	37	13	98116619	98116619	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr13:98116619G>A	ENST00000245304.4	+	2	724	c.475G>A	c.(475-477)Gaa>Aaa	p.E159K		NM_021033.6	NP_066361.1	P10114	RAP2A_HUMAN	RAP2A, member of RAS oncogene family	159					actin cytoskeleton reorganization (GO:0031532)|cellular protein localization (GO:0034613)|establishment of protein localization (GO:0045184)|negative regulation of cell migration (GO:0030336)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of dendrite morphogenesis (GO:0048814)|regulation of JNK cascade (GO:0046328)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|recycling endosome (GO:0055037)|recycling endosome membrane (GO:0055038)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.166)			ACTCTTTGCAGAAATTGTGAG	0.478																																						uc001vnd.2		NaN																	0				central_nervous_system(1)	1						c.(475-477)GAA>AAA		RAP2A, member of RAS oncogene family precursor							123.0	120.0	121.0					13																	98116619		2203	4300	6503	SO:0001583	missense	5911				actin cytoskeleton reorganization|cellular protein localization|establishment of protein localization|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of dendrite morphogenesis|regulation of JNK cascade	recycling endosome membrane	GTP binding|GTPase activity|protein binding	g.chr13:98116619G>A	AF205602	CCDS9485.1	13q34	2014-05-09			ENSG00000125249	ENSG00000125249			9861	protein-coding gene	gene with protein product		179540		RAP2			Standard	NM_021033		Approved	K-REV	uc001vnd.3	P10114	OTTHUMG00000017240	ENST00000245304.4:c.475G>A	13.37:g.98116619G>A	ENSP00000245304:p.Glu159Lys						p.E159K	NM_021033	NP_066361	P10114	RAP2A_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.166)		2	725	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		159					B2RCJ1|Q5JSC1|Q5JSC2	Missense_Mutation	SNP	ENST00000245304.4	37	c.475G>A	CCDS9485.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.861544	0.91433	.	.	ENSG00000125249	ENST00000245304	T	0.79749	-1.3	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.81744	0.4887	L	0.35249	1.045	0.80722	D	1	P	0.51240	0.943	P	0.51918	0.684	D	0.83371	0.0007	10	0.72032	D	0.01	.	19.8536	0.96748	0.0:0.0:1.0:0.0	.	159	P10114	RAP2A_HUMAN	K	159	ENSP00000245304:E159K	ENSP00000245304:E159K	E	+	1	0	RAP2A	96914620	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	9.472000	0.97709	2.694000	0.91930	0.558000	0.71614	GAA		0.478	RAP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045528.4				28	86	0	0	0	0.027356	0	28	86		
MYH7	4625	broad.mit.edu	37	14	23884449	23884449	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr14:23884449C>G	ENST00000355349.3	-	37	5476	c.5314G>C	c.(5314-5316)Gag>Cag	p.E1772Q	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1772					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GTGTCCTGCTCCTTCTTCAGC	0.602																																						uc001wjx.2		NaN																	0				ovary(3)|skin(1)	4						c.(5314-5316)GAG>CAG		myosin, heavy chain 7, cardiac muscle, beta							106.0	103.0	104.0					14																	23884449		2203	4298	6501	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23884449C>G	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.5314G>C	14.37:g.23884449C>G	ENSP00000347507:p.Glu1772Gln						p.E1772Q	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	37	5420	-	all_cancers(95;2.54e-05)		1772			Potential.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.5314G>C	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.566915	0.86439	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.90563	-2.69	5.25	5.25	0.73442	Myosin tail (1);	.	.	.	.	D	0.97093	0.9050	H	0.96460	3.825	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97998	1.0358	9	0.87932	D	0	.	19.037	0.92983	0.0:1.0:0.0:0.0	.	1772	P12883	MYH7_HUMAN	Q	1772;1777	ENSP00000347507:E1772Q	ENSP00000347507:E1772Q	E	-	1	0	MYH7	22954289	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.291000	0.78721	2.738000	0.93877	0.655000	0.94253	GAG		0.602	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3		NM_000257		23	71	0	0	0	0.021523	0	23	71		
NFATC4	4776	broad.mit.edu	37	14	24843541	24843541	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr14:24843541C>T	ENST00000250373.4	+	6	1883	c.1742C>T	c.(1741-1743)tCa>tTa	p.S581L	NFATC4_ENST00000555590.1_Missense_Mutation_p.S594L|NFATC4_ENST00000554661.1_Missense_Mutation_p.S511L|NFATC4_ENST00000556279.1_Missense_Mutation_p.S613L|NFATC4_ENST00000555802.1_5'UTR|NFATC4_ENST00000556169.1_Missense_Mutation_p.S569L|NFATC4_ENST00000413692.2_Missense_Mutation_p.S644L|NFATC4_ENST00000556759.1_Missense_Mutation_p.S116L|NFATC4_ENST00000555453.1_Missense_Mutation_p.S569L|NFATC4_ENST00000557451.1_Missense_Mutation_p.S511L|NFATC4_ENST00000422617.3_Missense_Mutation_p.S569L|NFATC4_ENST00000555167.1_Missense_Mutation_p.S116L|NFATC4_ENST00000424781.2_Missense_Mutation_p.S594L|NFATC4_ENST00000553879.1_Missense_Mutation_p.S511L|NFATC4_ENST00000554966.1_Missense_Mutation_p.S594L|NFATC4_ENST00000539237.2_Missense_Mutation_p.S613L|NFATC4_ENST00000555393.1_5'UTR|NFATC4_ENST00000554473.1_Missense_Mutation_p.S116L|NFATC4_ENST00000554050.1_Missense_Mutation_p.S581L|NFATC4_ENST00000553469.1_Missense_Mutation_p.S613L|NFATC4_ENST00000553708.1_Missense_Mutation_p.S581L|NFATC4_ENST00000554344.1_Missense_Mutation_p.S511L|NFATC4_ENST00000557767.1_5'UTR|NFATC4_ENST00000554591.1_Missense_Mutation_p.S644L	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	581	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		GCCCAGCGCTCAGCCCAGGAG	0.642																																						uc001wpc.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1741-1743)TCA>TTA		nuclear factor of activated T-cells,							35.0	30.0	32.0					14																	24843541		2203	4300	6503	SO:0001583	missense	4776				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:24843541C>T	BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"""Nuclear factor of activated T-cells"""	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.1742C>T	14.37:g.24843541C>T	ENSP00000250373:p.Ser581Leu					NFATC4_uc010tok.1_Missense_Mutation_p.S644L|NFATC4_uc010tol.1_Missense_Mutation_p.S644L|NFATC4_uc010alr.2_Missense_Mutation_p.S644L|NFATC4_uc010als.2_3'UTR|NFATC4_uc010tom.1_Missense_Mutation_p.S594L|NFATC4_uc010ton.1_Missense_Mutation_p.S594L|NFATC4_uc010too.1_Missense_Mutation_p.S594L|NFATC4_uc010alt.2_Missense_Mutation_p.S613L|NFATC4_uc010top.1_Missense_Mutation_p.S613L|NFATC4_uc010toq.1_Missense_Mutation_p.S613L|NFATC4_uc010alu.2_3'UTR|NFATC4_uc010tor.1_Missense_Mutation_p.S581L|NFATC4_uc010tos.1_Missense_Mutation_p.S511L|NFATC4_uc010tot.1_Missense_Mutation_p.S569L|NFATC4_uc010tou.1_Missense_Mutation_p.S511L|NFATC4_uc010tov.1_Missense_Mutation_p.S569L|NFATC4_uc010tow.1_Missense_Mutation_p.S511L|NFATC4_uc010alv.2_Missense_Mutation_p.S569L|NFATC4_uc010tox.1_Missense_Mutation_p.S511L|NFATC4_uc001wpd.2_Missense_Mutation_p.S116L|NFATC4_uc010toy.1_Missense_Mutation_p.S116L|NFATC4_uc010toz.1_Missense_Mutation_p.S116L|NFATC4_uc010tpa.1_5'UTR|NFATC4_uc010tpb.1_5'UTR	p.S581L	NM_004554	NP_004545	Q14934	NFAC4_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	6	2063	+			581			RHD.		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	ENST00000250373.4	37	c.1742C>T	CCDS9629.1	.	.	.	.	.	.	.	.	.	.	C	34	5.295840	0.95574	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000250373;ENST00000553708;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453;ENST00000554473;ENST00000556759;ENST00000555167	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;D;T;T	0.83591	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;-1.74;1.0;1.0	5.1	5.1	0.69264	Rel homology (1);p53-like transcription factor, DNA-binding (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	D	0.89570	0.6753	L	0.61387	1.9	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.98;1.0;0.98;0.98;1.0;1.0;1.0;1.0;0.98;0.997;0.966	D;D;P;D;P;P;D;D;D;D;P;D;P	0.91635	0.999;0.999;0.846;0.999;0.846;0.903;0.999;0.999;0.999;0.999;0.903;0.937;0.706	D	0.89745	0.3936	10	0.56958	D	0.05	-4.2043	16.0641	0.80859	0.0:1.0:0.0:0.0	.	569;569;613;613;594;594;594;644;644;569;613;644;581	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-5;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	L	644;644;594;594;594;613;613;613;581;581;581;511;511;511;569;511;569;569;116;116;116	ENSP00000388910:S644L;ENSP00000452039:S644L;ENSP00000451224:S594L;ENSP00000450644:S594L;ENSP00000388668:S594L;ENSP00000439350:S613L;ENSP00000452270:S613L;ENSP00000451502:S613L;ENSP00000451151:S581L;ENSP00000250373:S581L;ENSP00000450590:S581L;ENSP00000452349:S511L;ENSP00000450469:S511L;ENSP00000450733:S511L;ENSP00000451454:S569L;ENSP00000451284:S511L;ENSP00000396788:S569L;ENSP00000450686:S569L;ENSP00000450810:S116L;ENSP00000451183:S116L;ENSP00000451395:S116L	ENSP00000250373:S581L	S	+	2	0	NFATC4	23913381	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	5.623000	0.67757	2.644000	0.89710	0.655000	0.94253	TCA		0.642	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6		NM_004554		6	13	0	0	0	0.001984	0	6	13		
HECTD1	25831	broad.mit.edu	37	14	31613367	31613367	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr14:31613367C>G	ENST00000399332.1	-	17	3216	c.2728G>C	c.(2728-2730)Gaa>Caa	p.E910Q	RNU6-541P_ENST00000384709.1_RNA|HECTD1_ENST00000553700.1_Missense_Mutation_p.E910Q	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	910					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CTACACATTTCATATGGTGAA	0.303																																						uc001wrc.1		NaN																	0				ovary(3)|large_intestine(1)|lung(1)	5						c.(2728-2730)GAA>CAA		HECT domain containing 1							49.0	49.0	49.0					14																	31613367		1822	4078	5900	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31613367C>G	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.2728G>C	14.37:g.31613367C>G	ENSP00000382269:p.Glu910Gln					HECTD1_uc001wrd.1_Missense_Mutation_p.E425Q	p.E910Q	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	17	3217	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		910					D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.2728G>C	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.778168	0.90195	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957;ENST00000556224	T;T;T;T	0.80393	-0.05;-0.05;0.39;-1.37	5.66	4.77	0.60923	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	U	0.000001	D	0.91074	0.7191	M	0.89715	3.055	0.80722	D	1	D;B	0.69078	0.997;0.19	D;B	0.75484	0.986;0.034	D	0.92826	0.6276	10	0.87932	D	0	-12.947	14.6976	0.69134	0.0:0.9303:0.0:0.0697	.	910;910	D3DS86;Q9ULT8	.;HECD1_HUMAN	Q	910;910;910;384;910	ENSP00000450697:E910Q;ENSP00000382269:E910Q;ENSP00000451860:E384Q;ENSP00000452015:E910Q	ENSP00000261312:E910Q	E	-	1	0	HECTD1	30683118	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.814000	0.86154	1.382000	0.46385	0.655000	0.94253	GAA		0.303	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1				8	16	0	0	0	0.004482	0	8	16		
MIPOL1	145282	broad.mit.edu	37	14	37892073	37892073	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr14:37892073C>G	ENST00000327441.7	+	12	1416	c.950C>G	c.(949-951)tCt>tGt	p.S317C	MIPOL1_ENST00000539062.2_Missense_Mutation_p.S286C|MIPOL1_ENST00000537471.1_Missense_Mutation_p.S317C|MIPOL1_ENST00000545536.1_Missense_Mutation_p.S286C|MIPOL1_ENST00000556451.1_Missense_Mutation_p.S286C|MIPOL1_ENST00000536774.1_Missense_Mutation_p.S136C|MIPOL1_ENST00000396294.2_Missense_Mutation_p.S317C	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	317						nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		AAGTTGTTATCTATGCAACAA	0.323																																						uc001wuc.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(949-951)TCT>TGT		mirror-image polydactyly 1							34.0	33.0	33.0					14																	37892073		2202	4297	6499	SO:0001583	missense	145282							g.chr14:37892073C>G	AY059470	CCDS9664.1	14q13.3	2010-05-25			ENSG00000151338	ENSG00000151338			21460	protein-coding gene	gene with protein product		606850				11954550, 19667180	Standard	NM_001195296		Approved		uc001wuc.3	Q8TD10	OTTHUMG00000140252	ENST00000327441.7:c.950C>G	14.37:g.37892073C>G	ENSP00000333539:p.Ser317Cys					MIPOL1_uc010amr.2_RNA|MIPOL1_uc001wub.3_Missense_Mutation_p.S286C|MIPOL1_uc001wud.2_Missense_Mutation_p.S317C|MIPOL1_uc010ams.2_Missense_Mutation_p.S317C|MIPOL1_uc001wue.2_Missense_Mutation_p.S286C|MIPOL1_uc010amt.2_Missense_Mutation_p.S136C	p.S317C	NM_138731	NP_620059	Q8TD10	MIPO1_HUMAN	Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)	12	1453	+	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		317			Potential.		D3DSA4|Q7Z3J0|Q8IV14	Missense_Mutation	SNP	ENST00000327441.7	37	c.950C>G	CCDS9664.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.797281	0.50208	.	.	ENSG00000151338	ENST00000327441;ENST00000536774;ENST00000539062;ENST00000556451;ENST00000396294;ENST00000537471;ENST00000545536	T;T;T;T;T;T	0.49432	0.79;0.81;0.78;0.79;0.79;0.78	5.81	5.81	0.92471	.	0.222047	0.37437	N	0.002099	T	0.57548	0.2061	L	0.53249	1.67	0.30694	N	0.750988	D;D	0.56287	0.963;0.975	P;P	0.53313	0.639;0.723	T	0.61357	-0.7079	10	0.54805	T	0.06	-1.322	16.9952	0.86365	0.0:1.0:0.0:0.0	.	317;286	Q8TD10;Q49AL5	MIPO1_HUMAN;.	C	317;136;286;286;317;317;286	ENSP00000333539:S317C;ENSP00000438319:S286C;ENSP00000450479:S286C;ENSP00000379589:S317C;ENSP00000444254:S317C;ENSP00000442529:S286C	ENSP00000333539:S317C	S	+	2	0	MIPOL1	36961824	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.846000	0.48262	2.756000	0.94617	0.585000	0.79938	TCT		0.323	MIPOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276734.1		NM_138731		3	12	0	0	0	0.004672	0	3	12		
PNN	5411	broad.mit.edu	37	14	39644553	39644553	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr14:39644553G>A	ENST00000216832.4	+	1	137	c.70G>A	c.(70-72)Gag>Aag	p.E24K	PNN_ENST00000553331.1_Missense_Mutation_p.E24K|RP11-407N17.4_ENST00000556537.1_lincRNA|PNN_ENST00000556530.1_Missense_Mutation_p.E24K	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	24	Necessary for interaction with RNPS1.|Necessary for interactions with KRT8, KRT18 and KRT19.|Necessary for mediating alternative 5' splicing.				cell adhesion (GO:0007155)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		GAACGTGGATGAGAACATTCG	0.577																																						uc001wuw.3		NaN																	0				ovary(1)	1						c.(70-72)GAG>AAG		pinin, desmosome associated protein							63.0	54.0	57.0					14																	39644553		2203	4300	6503	SO:0001583	missense	5411				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity	g.chr14:39644553G>A	U77718	CCDS9671.1	14q21.1	2010-07-02			ENSG00000100941	ENSG00000100941			9162	protein-coding gene	gene with protein product		603154				8922384	Standard	NM_002687		Approved	memA	uc001wuw.4	Q9H307	OTTHUMG00000028821	ENST00000216832.4:c.70G>A	14.37:g.39644553G>A	ENSP00000216832:p.Glu24Lys						p.E24K	NM_002687	NP_002678	Q9H307	PININ_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)	1	167	+	Hepatocellular(127;0.213)		24			Potential.|Necessary for interaction with RNPS1.|Necessary for mediating alternative 5' splicing.|Necessary for interactions with KRT8, KRT18 and KRT19.		B4DZX8|O60899|Q53EM7|Q6P5X4|Q7KYL1|Q99738|Q9UHZ9|Q9UQR9	Missense_Mutation	SNP	ENST00000216832.4	37	c.70G>A	CCDS9671.1	.	.	.	.	.	.	.	.	.	.	G	37	6.104650	0.97286	.	.	ENSG00000100941	ENST00000553331;ENST00000216832;ENST00000556530	T	0.38077	1.16	5.95	5.95	0.96441	Pinin/SDK (2);	0.046331	0.85682	D	0.000000	T	0.58821	0.2149	L	0.59436	1.845	0.80722	D	1	D	0.71674	0.998	D	0.67725	0.953	T	0.57248	-0.7844	10	0.72032	D	0.01	-10.7701	20.3851	0.98937	0.0:0.0:1.0:0.0	.	24	Q9H307	PININ_HUMAN	K	24	ENSP00000216832:E24K	ENSP00000216832:E24K	E	+	1	0	PNN	38714304	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.474000	0.97718	2.824000	0.97209	0.650000	0.86243	GAG		0.577	PNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276776.2		NM_002687		5	20	0	0	0	0.021553	0	5	20		
SLC38A6	145389	broad.mit.edu	37	14	61517300	61517300	+	Silent	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr14:61517300G>A	ENST00000267488.4	+	13	1112	c.996G>A	c.(994-996)gtG>gtA	p.V332V	SLC38A6_ENST00000354886.2_Silent_p.V332V|SLC38A6_ENST00000456840.2_Silent_p.V309V	NM_153811.2	NP_722518.2	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	332					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		TCATGACTGTGAAGTTATGCA	0.343																																						uc001xfg.1		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(994-996)GTG>GTA		solute carrier family 38, member 6							190.0	168.0	176.0					14																	61517300		2203	4300	6503	SO:0001819	synonymous_variant	145389				amino acid transport|sodium ion transport	integral to membrane		g.chr14:61517300G>A	AF070578	CCDS9751.1, CCDS53900.1	14q23.1	2013-05-22			ENSG00000139974	ENSG00000139974		"""Solute carriers"""	19863	protein-coding gene	gene with protein product							Standard	NM_153811		Approved	NAT-1	uc001xfh.2	Q8IZM9	OTTHUMG00000140335	ENST00000267488.4:c.996G>A	14.37:g.61517300G>A						SLC38A6_uc001xfh.1_Silent_p.V332V|SLC38A6_uc001xfi.2_RNA|SLC38A6_uc001xfj.1_RNA|SLC38A6_uc001xfk.2_RNA|SLC38A6_uc010trz.1_Silent_p.V309V	p.V332V	NM_153811	NP_722518	Q8IZM9	S38A6_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0981)	13	1112	+			332			Helical; (Potential).		C9JWA6|Q86SY5	Silent	SNP	ENST00000267488.4	37	c.996G>A	CCDS9751.1																																																																																				0.343	SLC38A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276957.1				11	23	0	0	0	0.010729	0	11	23		
SYNE2	23224	broad.mit.edu	37	14	64449432	64449432	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr14:64449432G>C	ENST00000344113.4	+	17	2133	c.1921G>C	c.(1921-1923)Gat>Cat	p.D641H	SYNE2_ENST00000358025.3_Missense_Mutation_p.D641H|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.D641H	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	641					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGTCAGCAATGATGTGGTTGG	0.373																																						uc001xgm.2		NaN																	0				ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(1921-1923)GAT>CAT		spectrin repeat containing, nuclear envelope 2							141.0	135.0	137.0					14																	64449432		1933	4149	6082	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64449432G>C	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.1921G>C	14.37:g.64449432G>C	ENSP00000341781:p.Asp641His					SYNE2_uc001xgl.2_Missense_Mutation_p.D641H	p.D641H	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	17	2151	+			641			Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.1921G>C	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.730111	0.30684	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.58506	0.69;0.69;0.33	5.96	4.01	0.46588	.	0.369392	0.24578	N	0.037331	T	0.66257	0.2771	L	0.50333	1.59	0.80722	D	1	D;D	0.69078	0.995;0.997	P;D	0.63192	0.819;0.912	T	0.68443	-0.5407	10	0.66056	D	0.02	.	11.1321	0.48354	0.0787:0.1403:0.781:0.0	.	641;641	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	H	641	ENSP00000350719:D641H;ENSP00000341781:D641H;ENSP00000452570:D641H	ENSP00000261678:D641H	D	+	1	0	SYNE2	63519185	1.000000	0.71417	0.998000	0.56505	0.565000	0.35776	3.382000	0.52463	1.497000	0.48584	0.655000	0.94253	GAT		0.373	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2		NM_182914		30	43	0	0	0	0.008361	0	30	43		
KCNK10	54207	broad.mit.edu	37	14	88693731	88693731	+	Silent	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr14:88693731C>T	ENST00000340700.5	-	4	1105	c.654G>A	c.(652-654)gaG>gaA	p.E218E	KCNK10_ENST00000312350.5_Silent_p.E223E|KCNK10_ENST00000319231.5_Silent_p.E223E	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	218					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GAAAGACCTTCTCCACTCTTG	0.428																																						uc001xwo.2		NaN																	0				ovary(2)|skin(2)|pancreas(1)	5						c.(652-654)GAG>GAA		potassium channel, subfamily K, member 10							123.0	118.0	120.0					14																	88693731		2203	4300	6503	SO:0001819	synonymous_variant	54207				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:88693731C>T	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6273	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 97"""	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.654G>A	14.37:g.88693731C>T						KCNK10_uc001xwm.2_Silent_p.E223E|KCNK10_uc001xwn.2_Silent_p.E223E	p.E218E	NM_021161	NP_066984	P57789	KCNKA_HUMAN			4	1111	-			218			Cytoplasmic (Potential).		B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Silent	SNP	ENST00000340700.5	37	c.654G>A	CCDS9880.1																																																																																				0.428	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1		NM_021161		21	37	0	0	0	0.008871	0	21	37		
KCNK10	54207	broad.mit.edu	37	14	88693853	88693853	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr14:88693853C>T	ENST00000340700.5	-	4	983	c.532G>A	c.(532-534)Gaa>Aaa	p.E178K	KCNK10_ENST00000312350.5_Missense_Mutation_p.E183K|KCNK10_ENST00000319231.5_Missense_Mutation_p.E183K	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	178					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						TTGCCTCCTTCAGTGCTCGGA	0.403																																						uc001xwo.2		NaN																	0				ovary(2)|skin(2)|pancreas(1)	5						c.(532-534)GAA>AAA		potassium channel, subfamily K, member 10							101.0	107.0	105.0					14																	88693853		2203	4300	6503	SO:0001583	missense	54207				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:88693853C>T	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6273	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 97"""	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.532G>A	14.37:g.88693853C>T	ENSP00000343104:p.Glu178Lys					KCNK10_uc001xwm.2_Missense_Mutation_p.E183K|KCNK10_uc001xwn.2_Missense_Mutation_p.E183K	p.E178K	NM_021161	NP_066984	P57789	KCNKA_HUMAN			4	989	-			178					B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	ENST00000340700.5	37	c.532G>A	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.459316	0.63401	.	.	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	T;T;T	0.24151	1.87;1.87;1.87	6.17	6.17	0.99709	Ion transport 2 (1);	0.099543	0.64402	D	0.000002	T	0.30070	0.0753	L	0.49513	1.565	0.58432	D	0.999995	B;B;B	0.26002	0.139;0.07;0.033	B;B;B	0.31101	0.124;0.062;0.042	T	0.05784	-1.0864	10	0.16896	T	0.51	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	178;183;183	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	K	178;183;183	ENSP00000343104:E178K;ENSP00000310568:E183K;ENSP00000312811:E183K	ENSP00000310568:E183K	E	-	1	0	KCNK10	87763606	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	4.028000	0.57246	2.941000	0.99782	0.655000	0.94253	GAA		0.403	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1		NM_021161		25	63	0	0	0	0.01892	0	25	63		
CDC42BPB	9578	broad.mit.edu	37	14	103416915	103416915	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr14:103416915G>T	ENST00000361246.2	-	25	3485	c.3197C>A	c.(3196-3198)tCc>tAc	p.S1066Y		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GTCTTTGCAGGACACGTGGCA	0.572																																						uc001ymi.1		NaN																	0				large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11						c.(3196-3198)TCC>TAC		CDC42-binding protein kinase beta							59.0	48.0	52.0					14																	103416915		2203	4300	6503	SO:0001583	missense	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103416915G>T	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.3197C>A	14.37:g.103416915G>T	ENSP00000355237:p.Ser1066Tyr					CDC42BPB_uc001ymj.1_Missense_Mutation_p.S168Y	p.S1066Y	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	25	3429	-		Melanoma(154;0.155)	1066			Phorbol-ester/DAG-type.			Missense_Mutation	SNP	ENST00000361246.2	37	c.3197C>A	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579088	0.86645	.	.	ENSG00000198752	ENST00000361246;ENST00000541396	D	0.93247	-3.19	5.52	5.52	0.82312	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);Diacylglycerol/phorbol-ester binding (1);	0.163060	0.56097	D	0.000026	D	0.95140	0.8425	L	0.56340	1.77	0.80722	D	1	P;P	0.47762	0.9;0.9	P;P	0.56163	0.718;0.793	D	0.95145	0.8267	10	0.72032	D	0.01	.	19.7885	0.96447	0.0:0.0:1.0:0.0	.	1066;1066	A9JR72;Q9Y5S2	.;MRCKB_HUMAN	Y	1066;177	ENSP00000355237:S1066Y	ENSP00000355237:S1066Y	S	-	2	0	CDC42BPB	102486668	1.000000	0.71417	0.926000	0.36857	0.666000	0.39218	7.858000	0.86971	2.756000	0.94617	0.561000	0.74099	TCC		0.572	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1		NM_006035		20	31	1	0	1.96292e-10	0.010504	2.08956e-10	20	31		
TJP1	7082	broad.mit.edu	37	15	30019056	30019056	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr15:30019056G>A	ENST00000346128.6	-	17	2714	c.2240C>T	c.(2239-2241)tCt>tTt	p.S747F	TJP1_ENST00000545208.2_Missense_Mutation_p.S747F|TJP1_ENST00000356107.6_Missense_Mutation_p.S747F|RP11-680F8.4_ENST00000560740.1_RNA|TJP1_ENST00000400011.2_Missense_Mutation_p.S751F	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	747	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		ACTTTTCCGAGATTCTGGACA	0.363																																					Melanoma(77;681 1843 6309 6570)	uc001zcr.2		NaN																	0				ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(2239-2241)TCT>TTT		tight junction protein 1 isoform a							172.0	153.0	159.0					15																	30019056		1852	4094	5946	SO:0001583	missense	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30019056G>A		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.2240C>T	15.37:g.30019056G>A	ENSP00000281537:p.Ser747Phe					TJP1_uc010azl.2_Missense_Mutation_p.S735F|TJP1_uc001zcq.2_Missense_Mutation_p.S751F|TJP1_uc001zcs.2_Missense_Mutation_p.S747F	p.S747F	NM_003257	NP_003248	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	17	2715	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	747			Guanylate kinase-like.		B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	c.2240C>T	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.605530	0.66445	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.82	5.82	0.92795	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.85682	D	0.000000	T	0.72293	0.3442	M	0.88105	2.93	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;0.999;1.0;0.998	T	0.75169	-0.3412	9	.	.	.	.	20.1092	0.97906	0.0:0.0:1.0:0.0	.	740;747;747;751	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	F	747;751;747;747;747	ENSP00000281537:S747F;ENSP00000382890:S751F;ENSP00000441202:S747F;ENSP00000348416:S747F	.	S	-	2	0	TJP1	27806348	1.000000	0.71417	0.998000	0.56505	0.093000	0.18481	9.752000	0.98900	2.745000	0.94114	0.655000	0.94253	TCT		0.363	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3		NM_003257		42	67	0	0	0	0.00874	0	42	67		
RYR3	6263	broad.mit.edu	37	15	34078093	34078093	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr15:34078093G>A	ENST00000389232.4	+	66	9569	c.9499G>A	c.(9499-9501)Gaa>Aaa	p.E3167K	RYR3_ENST00000415757.3_Missense_Mutation_p.E3167K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3167					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGTCACCTCTGAACACCTCAG	0.562																																						uc001zhi.2		NaN																	0				ovary(5)|central_nervous_system(4)|lung(1)	10						c.(9499-9501)GAA>AAA		ryanodine receptor 3							155.0	167.0	163.0					15																	34078093		2143	4270	6413	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34078093G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.9499G>A	15.37:g.34078093G>A	ENSP00000373884:p.Glu3167Lys					RYR3_uc010bar.2_Missense_Mutation_p.E3167K	p.E3167K	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	66	9569	+		all_lung(180;7.18e-09)	3167					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.9499G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.583306	0.86748	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.88975	-2.45;-2.45	5.59	4.61	0.57282	.	0.000000	0.85682	D	0.000000	D	0.88036	0.6329	M	0.66939	2.045	0.58432	D	0.999993	P;B	0.37731	0.607;0.23	B;B	0.37650	0.255;0.119	D	0.87820	0.2637	10	0.41790	T	0.15	.	16.2767	0.82646	0.0:0.1324:0.8676:0.0	.	3167;3167	Q15413-2;Q15413	.;RYR3_HUMAN	K	3167	ENSP00000373884:E3167K;ENSP00000399610:E3167K	ENSP00000354735:E3167K	E	+	1	0	RYR3	31865385	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.864000	0.87037	2.790000	0.95986	0.609000	0.83330	GAA		0.562	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1				57	88	0	0	0	0.01441	0	57	88		
BUB1B	701	broad.mit.edu	37	15	40475992	40475992	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr15:40475992C>G	ENST00000287598.6	+	6	854	c.659C>G	c.(658-660)tCt>tGt	p.S220C	BUB1B_ENST00000412359.3_Missense_Mutation_p.S234C	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	220	BUB1 N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00822}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|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)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TTTGAGTCTTCTGTACCACAA	0.448			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																													uc001zkx.3		NaN	yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	Mis|N|F|S	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)			M		rhabdomyosarcoma			0				stomach(2)|ovary(1)|kidney(1)	4						c.(658-660)TCT>TGT		budding uninhibited by benzimidazoles 1 beta							109.0	100.0	103.0					15																	40475992		2203	4300	6503	SO:0001583	missense	701	Mosaic_Variegated_Aneuploidy_Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40475992C>G	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"""budding uninhibited by benzimidazoles 1 (yeast homolog), beta"", ""budding uninhibited by benzimidazoles 1 homolog beta (yeast)"""			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.659C>G	15.37:g.40475992C>G	ENSP00000287598:p.Ser220Cys					BUB1B_uc010ucl.1_Missense_Mutation_p.S83C	p.S220C	NM_001211	NP_001202	O60566	BUB1B_HUMAN		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)	6	871	+		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	220			BUB1 N-terminal.		B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Missense_Mutation	SNP	ENST00000287598.6	37	c.659C>G	CCDS10053.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.116256	0.56505	.	.	ENSG00000156970	ENST00000287598;ENST00000412359;ENST00000442874	T;T	0.15718	2.4;2.4	5.2	2.04	0.26737	Mad3/BUB1 homology region 1 (1);	0.558064	0.18401	N	0.142341	T	0.26629	0.0651	L	0.44542	1.39	0.09310	N	1	D;D	0.76494	0.999;0.998	D;D	0.69654	0.965;0.922	T	0.03364	-1.1044	10	0.66056	D	0.02	-5.001	5.6685	0.17709	0.1299:0.5425:0.2529:0.0747	.	234;220	O60566-3;O60566	.;BUB1B_HUMAN	C	220;234;166	ENSP00000287598:S220C;ENSP00000398470:S234C	ENSP00000287598:S220C	S	+	2	0	BUB1B	38263284	1.000000	0.71417	0.136000	0.22124	0.955000	0.61496	1.893000	0.39758	0.560000	0.29169	0.491000	0.48974	TCT		0.448	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4				26	27	0	0	0	0.021523	0	26	27		
SHC4	399694	broad.mit.edu	37	15	49148320	49148320	+	Splice_Site	SNP	C	C	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr15:49148320C>A	ENST00000332408.4	-	8	1500	c.1072G>T	c.(1072-1074)Gag>Tag	p.E358*	SHC4_ENST00000396535.3_Splice_Site_p.E115*|SHC4_ENST00000537958.1_Splice_Site_p.E72*	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	358	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		TGCACCTCCTCACTGTGAAGG	0.428																																						uc001zxb.1		NaN																	0				ovary(3)|pancreas(2)	5						c.(1072-1074)GAG>TAG		rai-like protein							108.0	104.0	105.0					15																	49148320		2197	4295	6492	SO:0001630	splice_region_variant	399694				intracellular signal transduction	cell junction|postsynaptic membrane		g.chr15:49148320C>A	AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"""SH2 domain containing"""	16743	protein-coding gene	gene with protein product	"""rai-like protein"""						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.1071-1G>T	15.37:g.49148320C>A						SHC4_uc010uey.1_Nonsense_Mutation_p.E115*|SHC4_uc010uez.1_Nonsense_Mutation_p.E72*	p.E358*	NM_203349	NP_976224	Q6S5L8	SHC4_HUMAN		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)	8	1501	-		all_lung(180;0.00466)	358			PID.		Q6UXQ3|Q8IYW3	Nonsense_Mutation	SNP	ENST00000332408.4	37	c.1072G>T	CCDS10130.1	.	.	.	.	.	.	.	.	.	.	C	38	6.962490	0.97967	.	.	ENSG00000185634	ENST00000332408;ENST00000396535;ENST00000537958	.	.	.	5.14	5.14	0.70334	.	0.423783	0.19725	N	0.107490	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-13.7592	17.5351	0.87827	0.0:1.0:0.0:0.0	.	.	.	.	X	358;115;72	.	ENSP00000329668:E358X	E	-	1	0	SHC4	46935612	0.999000	0.42202	1.000000	0.80357	0.673000	0.39480	3.147000	0.50639	2.666000	0.90696	0.655000	0.94253	GAG		0.428	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254371.1		NM_203349	Nonsense_Mutation	27	54	1	0	4.47668e-21	0.021523	4.85955e-21	27	54		
HERC1	8925	broad.mit.edu	37	15	63908120	63908120	+	Splice_Site	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr15:63908120C>G	ENST00000443617.2	-	76	14029		c.e76-1			NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1						cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GAGGAATCATCTAGGAACAGA	0.358																																						uc002amp.2		NaN																	0				ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						c.e76-1		hect domain and RCC1-like domain 1							42.0	37.0	38.0					15																	63908120		1857	4109	5966	SO:0001630	splice_region_variant	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63908120C>G	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.13942-1G>C	15.37:g.63908120C>G							p.M4648_splice	NM_003922	NP_003913	Q15751	HERC1_HUMAN			76	14090	-								Q8IW65	Splice_Site	SNP	ENST00000443617.2	37	c.13942_splice	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.353947	0.82243	.	.	ENSG00000103657	ENST00000443617	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0018	0.97417	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HERC1	61695173	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.776000	0.85560	2.793000	0.96121	0.655000	0.94253	.		0.358	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1		NM_003922	Intron	3	4	0	0	0	0.004672	0	3	4		
ACAN	176	broad.mit.edu	37	15	89392692	89392692	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr15:89392692C>T	ENST00000561243.1	+	9	1756	c.1756C>T	c.(1756-1758)Ctt>Ttt	p.L586F	ACAN_ENST00000352105.7_Missense_Mutation_p.L586F|ACAN_ENST00000559004.1_Missense_Mutation_p.L586F|ACAN_ENST00000439576.2_Missense_Mutation_p.L586F|ACAN_ENST00000558207.1_Missense_Mutation_p.L586F			P16112	PGCA_HUMAN	aggrecan	586	G2-B'.|Link 4. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CGCCACACGCCTTGAGCAGTT	0.632																																						uc010upo.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1756-1758)CTT>TTT		aggrecan isoform 2 precursor							18.0	19.0	19.0					15																	89392692		2078	4191	6269	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89392692C>T	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.1756C>T	15.37:g.89392692C>T	ENSP00000453342:p.Leu586Phe					ACAN_uc002bmx.2_Missense_Mutation_p.L586F|ACAN_uc010upp.1_Missense_Mutation_p.L586F|ACAN_uc002bna.2_RNA	p.L586F	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		10	2130	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		586					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.1756C>T	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	C	6.414	0.444502	0.12164	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.08193	3.12;3.12	5.11	2.06	0.26882	.	0.787781	0.09932	N	0.737112	T	0.06371	0.0164	N	0.16903	0.455	0.09310	N	1	P;P;B	0.38677	0.642;0.642;0.01	B;B;B	0.40165	0.321;0.321;0.068	T	0.43442	-0.9391	10	0.31617	T	0.26	10.3386	8.4386	0.32801	0.2729:0.6537:0.0:0.0734	.	586;586;586	E7ENV9;E7EX88;Q6PID9	.;.;.	F	586	ENSP00000387356:L586F;ENSP00000341615:L586F	ENSP00000268134:L586F	L	+	1	0	ACAN	87193696	0.000000	0.05858	0.001000	0.08648	0.751000	0.42716	0.744000	0.26245	0.213000	0.20722	0.655000	0.94253	CTT		0.632	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2		NM_001135		6	8	0	0	0	0.001984	0	6	8		
CREBBP	1387	broad.mit.edu	37	16	3788651	3788651	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr16:3788651C>G	ENST00000262367.5	-	26	5112	c.4303G>C	c.(4303-4305)Gat>Cat	p.D1435H	CREBBP_ENST00000382070.3_Missense_Mutation_p.D1397H	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1435	Acetyl-CoA binding. {ECO:0000250|UniProtKB:Q09472}.|CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Cys/His-rich.|Interaction with histone. {ECO:0000250|UniProtKB:Q09472}.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.D1435Y(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGAATACTATCCAGATAAGAA	0.433			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															uc002cvv.2		NaN		Dom/Rec	yes		16	16p13.3	1387	T|N|F|Mis|O	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL 		1	Substitution - Missense(1)	p.D1435G(1)|p.D1435E(1)	lung(1)	haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(4303-4305)GAT>CAT		CREB binding protein isoform a							63.0	55.0	58.0					16																	3788651		2197	4300	6497	SO:0001583	missense	1387	Rubinstein-Taybi_syndrome			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3788651C>G	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4303G>C	16.37:g.3788651C>G	ENSP00000262367:p.Asp1435His					CREBBP_uc002cvw.2_Missense_Mutation_p.D1397H	p.D1435H	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	26	4507	-		Ovarian(90;0.0266)	1435			Cys/His-rich.		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.4303G>C	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	c	21.1	4.093690	0.76870	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.99436	-5.9;-5.9	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.99722	0.9892	H	0.96365	3.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97386	0.9986	10	0.87932	D	0	-26.2761	19.2588	0.93959	0.0:1.0:0.0:0.0	.	1465;1435	Q4LE28;Q92793	.;CBP_HUMAN	H	1435;1465;1397;24	ENSP00000262367:D1435H;ENSP00000371502:D1397H	ENSP00000262367:D1435H	D	-	1	0	CREBBP	3728652	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.755000	0.85180	2.638000	0.89438	0.561000	0.74099	GAT		0.433	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2		NM_004380		5	10	0	0	0	0.014758	0	5	10		
UBN1	29855	broad.mit.edu	37	16	4924401	4924401	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr16:4924401G>A	ENST00000396658.4	+	14	2693	c.1990G>A	c.(1990-1992)Gac>Aac	p.D664N	UBN1_ENST00000262376.6_Missense_Mutation_p.D664N|UBN1_ENST00000590769.1_Missense_Mutation_p.D664N|UBN1_ENST00000545171.1_Missense_Mutation_p.D664N	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	664					chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						ATTGGATGAAGACTTGATCCG	0.577																																						uc002cyb.2		NaN																	0				skin(2)	2						c.(1990-1992)GAC>AAC		ubinuclein 1							106.0	104.0	104.0					16																	4924401		2197	4300	6497	SO:0001583	missense	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4924401G>A	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.1990G>A	16.37:g.4924401G>A	ENSP00000379894:p.Asp664Asn					UBN1_uc010uxw.1_Missense_Mutation_p.D664N|UBN1_uc002cyc.2_Missense_Mutation_p.D664N	p.D664N	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN			15	2329	+			664					B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	ENST00000396658.4	37	c.1990G>A	CCDS10525.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049838	0.75846	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.66995	0.39;-0.24;0.39	4.64	4.64	0.57946	.	0.074725	0.53938	D	0.000041	T	0.81912	0.4923	M	0.77103	2.36	0.33656	D	0.609064	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	D	0.85634	0.1272	10	0.40728	T	0.16	-14.7334	18.0643	0.89386	0.0:0.0:1.0:0.0	.	664;664	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	N	664	ENSP00000262376:D664N;ENSP00000442379:D664N;ENSP00000379894:D664N	ENSP00000262376:D664N	D	+	1	0	UBN1	4864402	1.000000	0.71417	0.914000	0.36105	0.658000	0.38924	6.888000	0.75622	2.575000	0.86900	0.561000	0.74099	GAC		0.577	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1		NM_016936		40	102	0	0	0	0.021022	0	40	102		
SMG1	23049	broad.mit.edu	37	16	18841068	18841068	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr16:18841068G>A	ENST00000446231.2	-	54	9555	c.9143C>T	c.(9142-9144)tCa>tTa	p.S3048L	SMG1_ENST00000389467.3_Missense_Mutation_p.S3048L			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3048					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ATCTTCAAGTGAACTTGATCC	0.323																																						uc002dfm.2		NaN																	0				breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						c.(9142-9144)TCA>TTA		PI-3-kinase-related kinase SMG-1							31.0	30.0	31.0					16																	18841068		1819	4078	5897	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18841068G>A	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.9143C>T	16.37:g.18841068G>A	ENSP00000402515:p.Ser3048Leu					SMG1_uc010bwb.2_Missense_Mutation_p.S2908L|SMG1_uc010bwa.2_Missense_Mutation_p.S1779L	p.S3048L	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN			54	9506	-			3048					O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.9143C>T	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721943	0.68959	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01068	5.38;5.38	6.07	6.07	0.98685	.	0.000000	0.56097	D	0.000039	T	0.01156	0.0038	N	0.14661	0.345	0.44652	D	0.997637	P	0.37466	0.596	B	0.29862	0.108	T	0.75625	-0.3253	10	0.48119	T	0.1	.	20.6525	0.99598	0.0:0.0:1.0:0.0	.	3048	Q96Q15	SMG1_HUMAN	L	3048	ENSP00000402515:S3048L;ENSP00000374118:S3048L	ENSP00000374118:S3048L	S	-	2	0	SMG1	18748569	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.561000	0.73955	2.890000	0.99128	0.585000	0.79938	TCA		0.323	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1		NM_015092		14	15	0	0	0	0.020292	0	14	15		
RBL2	5934	broad.mit.edu	37	16	53524211	53524211	+	Silent	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr16:53524211G>A	ENST00000262133.6	+	22	3556	c.3419G>A	c.(3418-3420)tGa>tAa	p.*1140*	RBL2_ENST00000544545.1_Silent_p.*519*|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	0					chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GGTTCCCACTGAGGTTAGTCT	0.403																																						uc002ehi.3		NaN																	0				ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						c.(3418-3420)TGA>TAA		retinoblastoma-like 2 (p130)							98.0	95.0	96.0					16																	53524211		2198	4300	6498	SO:0001819	synonymous_variant	5934				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr16:53524211G>A	X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.3419G>A	16.37:g.53524211G>A						RBL2_uc002ehj.2_Silent_p.*850*|RBL2_uc010vgw.1_Silent_p.*519*	p.*1140*	NM_005611	NP_005602	Q08999	RBL2_HUMAN			22	3537	+			1140					B7Z913|Q15073|Q16084|Q8NE70|Q92812	Silent	SNP	ENST00000262133.6	37	c.3419G>A	CCDS10748.1																																																																																				0.403	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3		NM_005611		16	36	0	0	0	0.028581	0	16	36		
SLC9A5	6553	broad.mit.edu	37	16	67291253	67291253	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr16:67291253G>C	ENST00000299798.11	+	8	1406	c.1341G>C	c.(1339-1341)ttG>ttC	p.L447F		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	447					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CATAGGGCTTGACCATCAAGC	0.542																																						uc002esm.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(1339-1341)TTG>TTC		solute carrier family 9 (sodium/hydrogen							92.0	99.0	97.0					16																	67291253		2128	4266	6394	SO:0001583	missense	6553				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr16:67291253G>C		CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.1341G>C	16.37:g.67291253G>C	ENSP00000299798:p.Leu447Phe					SLC9A5_uc010cee.2_Missense_Mutation_p.L152F|SLC9A5_uc010vji.1_5'UTR	p.L447F	NM_004594	NP_004585	Q14940	SL9A5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)	8	1404	+		Ovarian(137;0.0563)	447			Helical; (Potential).		A5PKY7|Q9Y626	Missense_Mutation	SNP	ENST00000299798.11	37	c.1341G>C	CCDS42178.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.008478	0.54361	.	.	ENSG00000135740	ENST00000299798	T	0.17054	2.3	5.76	3.73	0.42828	Cation/H+ exchanger (1);	0.000000	0.64402	D	0.000002	T	0.33118	0.0852	L	0.60455	1.87	0.49687	D	0.999815	D	0.89917	1.0	D	0.75484	0.986	T	0.04153	-1.0973	10	0.66056	D	0.02	.	7.9931	0.30252	0.1598:0.1388:0.7014:0.0	.	447	Q14940	SL9A5_HUMAN	F	447	ENSP00000299798:L447F	ENSP00000299798:L447F	L	+	3	2	SLC9A5	65848754	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.572000	0.45999	1.373000	0.46208	0.609000	0.83330	TTG		0.542	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1				13	39	0	0	0	0.013537	0	13	39		
KCTD19	146212	broad.mit.edu	37	16	67324842	67324842	+	Silent	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr16:67324842G>A	ENST00000304372.5	-	15	2668	c.2613C>T	c.(2611-2613)atC>atT	p.I871I		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	871					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		TGAAGCCGGTGATGGCCAGCA	0.617																																						uc002esu.2		NaN																	0				skin(1)	1						c.(2611-2613)ATC>ATT		potassium channel tetramerisation domain							54.0	59.0	58.0					16																	67324842		2010	4179	6189	SO:0001819	synonymous_variant	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67324842G>A	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.2613C>T	16.37:g.67324842G>A						KCTD19_uc002est.2_Silent_p.I643I|KCTD19_uc010vjj.1_Silent_p.I614I	p.I871I	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	15	2664	-		Ovarian(137;0.192)	871					B4DZ49|Q8N804	Silent	SNP	ENST00000304372.5	37	c.2613C>T	CCDS42179.1																																																																																				0.617	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1		XM_085367		4	10	0	0	0	0.021553	0	4	10		
PRMT7	54496	broad.mit.edu	37	16	68373809	68373809	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr16:68373809G>C	ENST00000339507.5	+	9	1695	c.865G>C	c.(865-867)Gag>Cag	p.E289Q	PRMT7_ENST00000441236.1_Missense_Mutation_p.E239Q|PRMT7_ENST00000564441.1_3'UTR|PRMT7_ENST00000348497.4_Missense_Mutation_p.E215Q|PRMT7_ENST00000449359.3_Missense_Mutation_p.E239Q			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	289	SAM-dependent MTase PRMT-type 1. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	[myelin basic protein]-arginine N-methyltransferase activity (GO:0016277)|histone binding (GO:0042393)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		AATGGACCCTGAGGGGAAGAT	0.572																																						uc002evy.1		NaN																	0					0						c.(865-867)GAG>CAG		protein arginine methyltransferase 7							81.0	75.0	77.0					16																	68373809		2198	4300	6498	SO:0001583	missense	54496				cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	g.chr16:68373809G>C	AK001502	CCDS10866.1, CCDS54033.1	16q22.1	2008-02-05			ENSG00000132600	ENSG00000132600		"""Protein arginine methyltransferases"""	25557	protein-coding gene	gene with protein product		610087				15044439	Standard	NM_001184824		Approved	FLJ10640, KIAA1933	uc002evy.2	Q9NVM4	OTTHUMG00000137556	ENST00000339507.5:c.865G>C	16.37:g.68373809G>C	ENSP00000343103:p.Glu289Gln					PRMT7_uc002evx.1_Missense_Mutation_p.E289Q|PRMT7_uc010vlg.1_Missense_Mutation_p.E239Q|PRMT7_uc002evz.1_Missense_Mutation_p.E135Q	p.E289Q	NM_019023	NP_061896	Q9NVM4	ANM7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)	9	1141	+		Ovarian(137;0.192)	289					B3KPR0|B3KUG9|B4E379|Q96PV5|Q9H9L0	Missense_Mutation	SNP	ENST00000339507.5	37	c.865G>C	CCDS10866.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.341108	0.81911	.	.	ENSG00000132600	ENST00000449359;ENST00000441236;ENST00000348497;ENST00000339507	T;T;T;T	0.25912	1.77;1.77;1.77;1.77	5.8	5.8	0.92144	.	0.460339	0.27088	N	0.020989	T	0.41880	0.1178	M	0.63843	1.955	0.40277	D	0.978357	P;D;B;P	0.59357	0.855;0.985;0.157;0.579	P;P;B;P	0.56042	0.576;0.79;0.103;0.452	T	0.07751	-1.0756	10	0.19147	T	0.46	-21.2035	17.5371	0.87835	0.0:0.0:1.0:0.0	.	239;215;289;289	Q9NVM4-3;Q9NVM4-2;Q9NVM4;Q9NVM4-4	.;.;ANM7_HUMAN;.	Q	239;239;215;289	ENSP00000414716:E239Q;ENSP00000409324:E239Q;ENSP00000345775:E215Q;ENSP00000343103:E289Q	ENSP00000343103:E289Q	E	+	1	0	PRMT7	66931310	0.994000	0.37717	1.000000	0.80357	0.997000	0.91878	2.050000	0.41297	2.740000	0.93945	0.650000	0.86243	GAG		0.572	PRMT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268892.3		NM_019023		17	20	0	0	0	0.028581	0	17	20		
PHLPP2	23035	broad.mit.edu	37	16	71718490	71718490	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr16:71718490C>G	ENST00000568954.1	-	5	1002	c.624G>C	c.(622-624)aaG>aaC	p.K208N	PHLPP2_ENST00000360429.3_Missense_Mutation_p.K208N|PHLPP2_ENST00000356272.3_Missense_Mutation_p.K208N|PHLPP2_ENST00000567016.1_Missense_Mutation_p.K243N|PHLPP2_ENST00000393524.2_Missense_Mutation_p.K208N			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	208	PH.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						ATTGCCGTCGCTTCACTTCTT	0.473																																						uc002fax.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(622-624)AAG>AAC		PH domain and leucine rich repeat protein							49.0	47.0	48.0					16																	71718490		2198	4300	6498	SO:0001583	missense	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71718490C>G	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.624G>C	16.37:g.71718490C>G	ENSP00000457991:p.Lys208Asn					PHLPP2_uc002fav.2_5'Flank|PHLPP2_uc010cgf.2_Missense_Mutation_p.K208N|PHLPP2_uc002fay.1_Missense_Mutation_p.K208N	p.K208N	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN			4	630	-			208			PH.		A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	ENST00000568954.1	37	c.624G>C	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.618934	0.66787	.	.	ENSG00000040199	ENST00000299971;ENST00000360429;ENST00000356272;ENST00000393524;ENST00000538126	T;T;T	0.33216	1.42;1.42;1.42	4.82	2.45	0.29901	Pleckstrin homology-type (1);	0.047020	0.85682	D	0.000000	T	0.43077	0.1231	M	0.61703	1.905	0.44241	D	0.997087	D;D	0.76494	0.999;0.998	D;P	0.65573	0.936;0.82	T	0.35624	-0.9781	10	0.66056	D	0.02	-20.4716	4.3858	0.11316	0.0:0.547:0.0:0.453	.	208;208	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	N	15;208;208;208;208	ENSP00000353610:K208N;ENSP00000348611:K208N;ENSP00000377159:K208N	ENSP00000299971:K15N	K	-	3	2	PHLPP2	70275991	0.988000	0.35896	1.000000	0.80357	0.997000	0.91878	0.261000	0.18442	1.140000	0.42260	0.561000	0.74099	AAG		0.473	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1		NM_015020		7	18	0	0	0	0.001984	0	7	18		
ZFHX3	463	broad.mit.edu	37	16	72831063	72831063	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr16:72831063G>C	ENST00000268489.5	-	9	6190	c.5518C>G	c.(5518-5520)Cag>Gag	p.Q1840E	ZFHX3_ENST00000397992.5_Missense_Mutation_p.Q926E	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1840					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|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 regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TGTGGGACCTGAACCTGAGCC	0.592																																						uc002fck.2		NaN																	0				ovary(2)|skin(2)	4						c.(5518-5520)CAG>GAG		zinc finger homeobox 3 isoform A							88.0	86.0	86.0					16																	72831063		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72831063G>C	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.5518C>G	16.37:g.72831063G>C	ENSP00000268489:p.Gln1840Glu					ZFHX3_uc002fcl.2_Missense_Mutation_p.Q926E	p.Q1840E	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			9	6191	-		Ovarian(137;0.13)	1840					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.5518C>G	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.582720	0.28180	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.77358	-1.09;-1.04	6.03	6.03	0.97812	.	0.000000	0.47455	D	0.000229	T	0.77605	0.4155	L	0.49126	1.545	0.58432	D	0.999998	D	0.54601	0.967	P	0.45037	0.467	T	0.74959	-0.3486	10	0.31617	T	0.26	.	20.5666	0.99351	0.0:0.0:1.0:0.0	.	1840	Q15911	ZFHX3_HUMAN	E	1840;926	ENSP00000268489:Q1840E;ENSP00000438926:Q926E	ENSP00000268489:Q1840E	Q	-	1	0	ZFHX3	71388564	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.717000	0.98755	2.854000	0.98071	0.655000	0.94253	CAG		0.592	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1		NM_006885		30	37	0	0	0	0.00632	0	30	37		
TMEM231	79583	broad.mit.edu	37	16	75579304	75579304	+	Silent	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr16:75579304C>G	ENST00000258173.6	-	4	604	c.528G>C	c.(526-528)ctG>ctC	p.L176L	TMEM231_ENST00000569294.1_5'UTR|TMEM231_ENST00000568377.1_Silent_p.L205L|TMEM231_ENST00000565067.1_Intron|RP11-77K12.8_ENST00000564489.1_RNA|RP11-77K12.7_ENST00000460606.1_Nonstop_Mutation_p.*8S	NM_001077418.1	NP_001070886.1	Q9H6L2	TM231_HUMAN	transmembrane protein 231	176					cilium assembly (GO:0042384)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GCTGCAGCCTCAGGTCTCCGT	0.542																																						uc002fem.2		NaN																	0					0						c.(526-528)CTG>CTC		transmembrane protein 231 isoform 2							81.0	82.0	82.0					16																	75579304		1901	4104	6005	SO:0001819	synonymous_variant	79583					integral to membrane		g.chr16:75579304C>G		CCDS45530.1	16q23.1	2014-01-28			ENSG00000205084	ENSG00000205084			37234	protein-coding gene	gene with protein product		614949				23012439	Standard	NM_001077416		Approved	FLJ22167, ALYE870, PRO1886, JBTS20, MKS11	uc002fek.4	Q9H6L2		ENST00000258173.6:c.528G>C	16.37:g.75579304C>G						CHST5_uc002fej.1_5'UTR|TMEM231_uc002fek.2_Silent_p.L205L|TMEM231_uc002fel.2_Silent_p.L60L|TMEM231_uc010vne.1_Silent_p.L29L|TMEM231_uc010cgx.1_Silent_p.L140L	p.L176L	NM_001077418	NP_001070886	Q9H6L2	TM231_HUMAN			4	591	-			176					A0JLU1|A6NDZ6|B3KU85|G5E9E3|Q6P450|Q6UWW5	Silent	SNP	ENST00000258173.6	37	c.528G>C	CCDS45530.1																																																																																				0.542	TMEM231-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435481.2		NM_001077416		39	47	0	0	0	0.01441	0	39	47		
KARS	3735	broad.mit.edu	37	16	75663370	75663370	+	Silent	SNP	C	C	T	rs374568114		TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr16:75663370C>T	ENST00000302445.3	-	12	1533	c.1494G>A	c.(1492-1494)gcG>gcA	p.A498A	KARS_ENST00000319410.5_Silent_p.A526A|KARS_ENST00000568378.1_Intron	NM_005548.2	NP_005539.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	498					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|lysyl-tRNA aminoacylation (GO:0006430)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)|viral process (GO:0016032)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|microtubule cytoskeleton (GO:0015630)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid binding (GO:0016597)|ATP binding (GO:0005524)|lysine-tRNA ligase activity (GO:0004824)|metal ion binding (GO:0046872)|tRNA binding (GO:0000049)	p.A498A(1)		kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	GCTCAGTATACGCATTGCATA	0.517																																						uc002feq.2		NaN																	1	Substitution - coding silent(1)	p.A498A(1)	ovary(1)	ovary(2)	2						c.(1492-1494)GCG>GCA		lysyl-tRNA synthetase isoform 2	L-Lysine(DB00123)	G	,	0,4396		0,0,2198	180.0	179.0	179.0		1578,1494	3.8	1.0	16		179	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous	KARS	NM_001130089.1,NM_005548.2	,	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	,	526/626,498/598	75663370	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	3735				interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding	g.chr16:75663370C>T	AF285758	CCDS10923.1, CCDS45532.1	16q23.1	2014-09-17			ENSG00000065427	ENSG00000065427	6.1.1.6	"""Aminoacyl tRNA synthetases / Class II"""	6215	protein-coding gene	gene with protein product	"""lysine tRNA ligase"""	601421	"""deafness, autosomal recessive 89"""	DFNB89		8812440, 9278442, 23768514	Standard	NM_005548		Approved	KARS2, KARS1	uc002fer.3	Q15046	OTTHUMG00000137609	ENST00000302445.3:c.1494G>A	16.37:g.75663370C>T						KARS_uc002fer.2_Silent_p.A526A|KARS_uc002fes.2_Silent_p.A342A	p.A498A	NM_005548	NP_005539	Q15046	SYK_HUMAN			12	1542	-			498					A8MSK1|D3DUK4|O14946|Q96J25|Q9HB23	Silent	SNP	ENST00000302445.3	37	c.1494G>A	CCDS10923.1																																																																																				0.517	KARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269023.1		NM_005548		36	69	0	0	0	0.019004	0	36	69		
SPIRE2	84501	broad.mit.edu	37	16	89929916	89929916	+	Silent	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr16:89929916G>C	ENST00000378247.3	+	11	1651	c.1608G>C	c.(1606-1608)ctG>ctC	p.L536L	SPIRE2_ENST00000393062.2_Silent_p.L536L	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	536	Spir-box.				actin cytoskeleton organization (GO:0030036)|cleavage furrow formation (GO:0036089)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|intracellular transport (GO:0046907)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		GCCTGGCGCTGACTGTGGAAG	0.572																																						uc002foz.1		NaN																	0				central_nervous_system(1)	1						c.(1606-1608)CTG>CTC		spire homolog 2							64.0	59.0	61.0					16																	89929916		2198	4300	6498	SO:0001819	synonymous_variant	84501				transport	cytoplasm|cytoskeleton	actin binding	g.chr16:89929916G>C	AL834408	CCDS32516.1	16q24	2013-08-27	2013-08-27			ENSG00000204991			30623	protein-coding gene	gene with protein product		609217	"""spire homolog 2 (Drosophila)"", ""spire family actin nucleation factor 2"""			11347906	Standard	NM_032451		Approved	spir-2, KIAA1832	uc002foz.1	Q8WWL2		ENST00000378247.3:c.1608G>C	16.37:g.89929916G>C						SPIRE2_uc010ciw.1_Silent_p.L536L|SPIRE2_uc002fpa.1_Silent_p.L488L|SPIRE2_uc010cix.1_Silent_p.L403L	p.L536L	NM_032451	NP_115827	Q8WWL2	SPIR2_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0286)	11	1660	+		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)	536			Spir-box.		A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	Silent	SNP	ENST00000378247.3	37	c.1608G>C	CCDS32516.1																																																																																				0.572	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421843.1		XM_047462		11	24	0	0	0	0.010729	0	11	24		
SRR	63826	broad.mit.edu	37	17	2222158	2222158	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr17:2222158G>C	ENST00000344595.5	+	4	652	c.334G>C	c.(334-336)Gac>Cac	p.D112H	SRR_ENST00000576848.1_Intron	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN	serine racemase	112					aging (GO:0007568)|brain development (GO:0007420)|D-serine biosynthetic process (GO:0070179)|D-serine metabolic process (GO:0070178)|L-serine metabolic process (GO:0006563)|protein homotetramerization (GO:0051289)|pyruvate biosynthetic process (GO:0042866)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|serine family amino acid metabolic process (GO:0009069)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|D-serine ammonia-lyase activity (GO:0008721)|glycine binding (GO:0016594)|L-serine ammonia-lyase activity (GO:0003941)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|serine racemase activity (GO:0030378)|threonine racemase activity (GO:0018114)			NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)	GACAGCTCCAGACTGTAAAAA	0.448																																						uc002fue.1		NaN																	0					0						c.(334-336)GAC>CAC		serine racemase	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						185.0	181.0	182.0					17																	2222158		2203	4300	6503	SO:0001583	missense	63826				D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide	cytoplasm|neuronal cell body|soluble fraction	ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity	g.chr17:2222158G>C	AF169974	CCDS11017.1	17p13	2007-01-18			ENSG00000167720	ENSG00000167720			14398	protein-coding gene	gene with protein product		606477				17067558, 15953485, 15193426	Standard	NM_021947		Approved	ILV1, ISO1	uc002fue.1	Q9GZT4	OTTHUMG00000090583	ENST00000344595.5:c.334G>C	17.37:g.2222158G>C	ENSP00000339435:p.Asp112His					SRR_uc002fui.1_5'UTR	p.D112H	NM_021947	NP_068766	Q9GZT4	SRR_HUMAN		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	4	402	+		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)	112					D3DTI5|Q6IA55	Missense_Mutation	SNP	ENST00000344595.5	37	c.334G>C	CCDS11017.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.540254	0.27563	.	.	ENSG00000167720	ENST00000344595	D	0.96716	-4.1	5.2	0.31	0.15825	Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.355710	0.33092	N	0.005296	D	0.92763	0.7699	L	0.49126	1.545	0.24052	N	0.996043	B	0.22414	0.069	B	0.36845	0.234	D	0.84272	0.0489	10	0.45353	T	0.12	-1.932	0.0775	0.00028	0.3102:0.2377:0.199:0.2531	.	112	Q9GZT4	SRR_HUMAN	H	112	ENSP00000339435:D112H	ENSP00000339435:D112H	D	+	1	0	SRR	2168908	0.023000	0.18921	0.999000	0.59377	0.720000	0.41350	0.265000	0.18515	0.324000	0.23333	-0.312000	0.09012	GAC		0.448	SRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207129.2		NM_021947		79	33	0	0	0	0.01441	0	79	33		
ATP2A3	489	broad.mit.edu	37	17	3854917	3854917	+	Silent	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr17:3854917G>A	ENST00000352011.3	-	4	336	c.282C>T	c.(280-282)atC>atT	p.I94I	ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000359983.3_Silent_p.I94I|ATP2A3_ENST00000397041.3_Silent_p.I94I|ATP2A3_ENST00000309890.7_Silent_p.I94I|ATP2A3_ENST00000397035.3_Silent_p.I94I|ATP2A3_ENST00000397043.3_Silent_p.I94I			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	94					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GGATCAGCATGATGACCAGGG	0.687																																					GBM(32;29 774 15719 37967)	uc002fxb.1		NaN																	0				ovary(3)|breast(1)|central_nervous_system(1)	5						c.(280-282)ATC>ATT		ATPase, Ca++ transporting, ubiquitous isoform b							42.0	31.0	34.0					17																	3854917		2202	4299	6501	SO:0001819	synonymous_variant	489				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr17:3854917G>A		CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"""ATPases / P-type"""	813	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 3"", ""calcium pump 3"""	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.282C>T	17.37:g.3854917G>A						ATP2A3_uc002fwx.1_Silent_p.I94I|ATP2A3_uc002fwy.1_Silent_p.I94I|ATP2A3_uc002fwz.1_Silent_p.I94I|ATP2A3_uc002fxa.1_Silent_p.I94I|ATP2A3_uc002fxc.1_Silent_p.I94I|ATP2A3_uc002fxd.1_Silent_p.I94I	p.I94I	NM_174955	NP_777615	Q93084	AT2A3_HUMAN		LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)	4	433	-			94			Helical; Name=2; (By similarity).		A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Silent	SNP	ENST00000352011.3	37	c.282C>T	CCDS11041.1																																																																																				0.687	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1		NM_174953		9	4	0	0	0	0.006214	0	9	4		
NCOR1	9611	broad.mit.edu	37	17	15960870	15960870	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr17:15960870G>C	ENST00000268712.3	-	40	6607	c.6350C>G	c.(6349-6351)tCa>tGa	p.S2117*	NCOR1_ENST00000395851.1_Nonsense_Mutation_p.S2014*|NCOR1_ENST00000395857.3_Nonsense_Mutation_p.S701*	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2117	Interaction with C1D. {ECO:0000250}.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		AGAGACCCTTGAACCTGGTCT	0.408																																						uc002gpo.2		NaN																	0				upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5						c.(6349-6351)TCA>TGA		nuclear receptor co-repressor 1							108.0	113.0	111.0					17																	15960870		2203	4300	6503	SO:0001587	stop_gained	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15960870G>C	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.6350C>G	17.37:g.15960870G>C	ENSP00000268712:p.Ser2117*					NCOR1_uc002gpn.2_Nonsense_Mutation_p.S2014*|NCOR1_uc002gpl.2_Nonsense_Mutation_p.S132*|NCOR1_uc002gpm.2_Nonsense_Mutation_p.S637*|NCOR1_uc010vwb.1_Nonsense_Mutation_p.S701*|NCOR1_uc010coy.2_Nonsense_Mutation_p.S1025*|NCOR1_uc010vwc.1_Nonsense_Mutation_p.S927*	p.S2117*	NM_006311	NP_006302	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	40	6590	-			2117			Interaction with C1D (By similarity).		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Nonsense_Mutation	SNP	ENST00000268712.3	37	c.6350C>G	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.745773	0.89663	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395857	.	.	.	6.0	6.0	0.97389	.	0.582311	0.20312	N	0.094814	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-0.066	19.4831	0.95018	0.0:0.0:1.0:0.0	.	.	.	.	X	2117;2014;2021;701	.	ENSP00000268712:S2117X	S	-	2	0	NCOR1	15901595	0.995000	0.38212	0.656000	0.29637	0.989000	0.77384	5.557000	0.67313	2.848000	0.98002	0.655000	0.94253	TCA		0.408	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5		NM_006311		33	62	0	0	0	0.015359	0	33	62		
NCOR1	9611	broad.mit.edu	37	17	15960927	15960927	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr17:15960927G>A	ENST00000268712.3	-	40	6550	c.6293C>T	c.(6292-6294)tCa>tTa	p.S2098L	NCOR1_ENST00000395851.1_Missense_Mutation_p.S1995L|NCOR1_ENST00000395857.3_Missense_Mutation_p.S682L	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2098	ID1. {ECO:0000250}.|Interaction with C1D. {ECO:0000250}.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GTAACGGTTTGATGTTTTAGT	0.483																																						uc002gpo.2		NaN																	0				upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5						c.(6292-6294)TCA>TTA		nuclear receptor co-repressor 1							137.0	134.0	135.0					17																	15960927		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15960927G>A	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.6293C>T	17.37:g.15960927G>A	ENSP00000268712:p.Ser2098Leu					NCOR1_uc002gpn.2_Missense_Mutation_p.S1995L|NCOR1_uc002gpl.2_Missense_Mutation_p.S113L|NCOR1_uc002gpm.2_Missense_Mutation_p.S618L|NCOR1_uc010vwb.1_Missense_Mutation_p.S682L|NCOR1_uc010coy.2_Missense_Mutation_p.S1006L|NCOR1_uc010vwc.1_Missense_Mutation_p.S908L	p.S2098L	NM_006311	NP_006302	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	40	6533	-			2098			Interaction with C1D (By similarity).|ID1 (By similarity).		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.6293C>T	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.758185	0.31137	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395857	T;T;T	0.46451	0.87;1.45;0.88	5.9	4.93	0.64822	.	0.169915	0.53938	D	0.000048	T	0.49660	0.1570	L	0.46157	1.445	0.42457	D	0.992777	B;D;B;D;B;P	0.53462	0.328;0.957;0.001;0.96;0.005;0.726	B;P;B;P;B;P	0.52309	0.205;0.529;0.001;0.695;0.008;0.552	T	0.52253	-0.8600	10	0.52906	T	0.07	-7.5137	16.3011	0.82816	0.0:0.1323:0.8677:0.0	.	908;2002;2098;1995;618;112	B4DZ48;E7EVK1;O75376;O75376-2;Q86YY1;Q86YY2	.;.;NCOR1_HUMAN;.;.;.	L	2098;1995;2002;682	ENSP00000268712:S2098L;ENSP00000379192:S1995L;ENSP00000379198:S682L	ENSP00000268712:S2098L	S	-	2	0	NCOR1	15901652	1.000000	0.71417	0.179000	0.23059	0.529000	0.34654	7.288000	0.78691	1.487000	0.48415	0.655000	0.94253	TCA		0.483	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5		NM_006311		22	50	0	0	0	0.014323	0	22	50		
NCOR1	9611	broad.mit.edu	37	17	15961794	15961794	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr17:15961794G>C	ENST00000268712.3	-	38	6258	c.6001C>G	c.(6001-6003)Caa>Gaa	p.Q2001E	NCOR1_ENST00000395851.1_Missense_Mutation_p.Q1898E|NCOR1_ENST00000395857.3_Missense_Mutation_p.Q585E	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2001	Interaction with C1D. {ECO:0000250}.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CTTTCCGCTTGATTTGCCTTA	0.413																																						uc002gpo.2		NaN																	0				upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5						c.(6001-6003)CAA>GAA		nuclear receptor co-repressor 1							179.0	177.0	178.0					17																	15961794		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15961794G>C	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.6001C>G	17.37:g.15961794G>C	ENSP00000268712:p.Gln2001Glu					NCOR1_uc002gpn.2_Missense_Mutation_p.Q1898E|NCOR1_uc002gpl.2_5'Flank|NCOR1_uc002gpm.2_Missense_Mutation_p.Q521E|NCOR1_uc010vwb.1_Missense_Mutation_p.Q585E|NCOR1_uc010coy.2_Missense_Mutation_p.Q909E|NCOR1_uc010vwc.1_Missense_Mutation_p.Q811E	p.Q2001E	NM_006311	NP_006302	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	38	6241	-			2001			Interaction with C1D (By similarity).		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.6001C>G	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.589376	0.28357	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395857	T;T;T	0.43294	0.95;1.56;0.96	5.89	4.92	0.64577	.	0.667432	0.16164	N	0.226619	T	0.44519	0.1297	L	0.46157	1.445	0.45216	D	0.998228	B;B;B;P;B	0.49253	0.038;0.047;0.025;0.921;0.103	B;B;B;P;B	0.46629	0.02;0.011;0.014;0.522;0.041	T	0.38824	-0.9643	10	0.52906	T	0.07	-0.8014	13.9889	0.64353	0.072:0.0:0.928:0.0	.	811;1905;2001;1898;521	B4DZ48;E7EVK1;O75376;O75376-2;Q86YY1	.;.;NCOR1_HUMAN;.;.	E	2001;1898;1905;585	ENSP00000268712:Q2001E;ENSP00000379192:Q1898E;ENSP00000379198:Q585E	ENSP00000268712:Q2001E	Q	-	1	0	NCOR1	15902519	1.000000	0.71417	0.693000	0.30195	0.890000	0.51754	6.611000	0.74183	1.502000	0.48669	0.557000	0.71058	CAA		0.413	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5		NM_006311		26	60	0	0	0	0.00632	0	26	60		
RAI1	10743	broad.mit.edu	37	17	17700785	17700785	+	Missense_Mutation	SNP	C	C	T	rs376509042		TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr17:17700785C>T	ENST00000353383.1	+	3	4992	c.4523C>T	c.(4522-4524)tCc>tTc	p.S1508F	RAI1_ENST00000261641.6_Missense_Mutation_p.S1508F	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1508					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GGCCTGGCCTCCCAGCCCCCG	0.642																																						uc002grm.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(4522-4524)TCC>TTC		retinoic acid induced 1							29.0	37.0	34.0					17																	17700785		2201	4300	6501	SO:0001583	missense	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17700785C>T	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.4523C>T	17.37:g.17700785C>T	ENSP00000323074:p.Ser1508Phe					RAI1_uc002grn.1_Missense_Mutation_p.S1508F	p.S1508F	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	4992	+			1508					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	c.4523C>T	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	C	11.49	1.655255	0.29425	.	.	ENSG00000108557	ENST00000353383;ENST00000395776;ENST00000261641;ENST00000315321	T;T	0.69806	-0.43;-0.02	5.03	4.03	0.46877	.	0.603699	0.16553	N	0.209410	T	0.49338	0.1551	N	0.19112	0.55	0.28795	N	0.899082	B	0.33379	0.41	B	0.31751	0.135	T	0.51865	-0.8651	10	0.59425	D	0.04	.	9.7663	0.40563	0.0:0.7374:0.1801:0.0825	.	1508	Q7Z5J4	RAI1_HUMAN	F	1508;1508;1508;1396	ENSP00000323074:S1508F;ENSP00000261641:S1508F	ENSP00000261641:S1508F	S	+	2	0	RAI1	17641510	0.884000	0.30299	0.998000	0.56505	0.897000	0.52465	1.726000	0.38085	2.621000	0.88768	0.561000	0.74099	TCC		0.642	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1		NM_030665		29	6	0	0	0	0.00632	0	29	6		
NLK	51701	broad.mit.edu	37	17	26518092	26518092	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr17:26518092G>C	ENST00000407008.3	+	9	2000	c.1282G>C	c.(1282-1284)Gat>Cat	p.D428H		NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	428	Required for homodimerization and kinase activation and localization to the nucleus. {ECO:0000250}.				intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of Wnt signaling pathway (GO:0030178)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|serine phosphorylation of STAT3 protein (GO:0033136)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase activity (GO:0004707)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|SH2 domain binding (GO:0042169)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CCCCTACCTAGATGAAGGGCG	0.438																																						uc010crj.2		NaN																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(1282-1284)GAT>CAT		nemo like kinase							174.0	139.0	151.0					17																	26518092		2203	4300	6503	SO:0001583	missense	51701				intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding	g.chr17:26518092G>C	AF197898	CCDS11224.2	17q11.2	2005-12-22	2005-12-22		ENSG00000087095	ENSG00000087095			29858	protein-coding gene	gene with protein product		609476	"""nemo like kinase"""			9448268, 10863097	Standard	NM_016231		Approved		uc010crj.3	Q9UBE8	OTTHUMG00000132451	ENST00000407008.3:c.1282G>C	17.37:g.26518092G>C	ENSP00000384625:p.Asp428His					NLK_uc010cri.1_RNA	p.D428H	NM_016231	NP_057315	Q9UBE8	NLK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	9	1494	+	all_lung(13;0.000343)|Lung NSC(42;0.00184)		428					B2RCX1|Q2PNI9|Q6P2A3	Missense_Mutation	SNP	ENST00000407008.3	37	c.1282G>C	CCDS11224.2	.	.	.	.	.	.	.	.	.	.	G	33	5.230882	0.95207	.	.	ENSG00000087095	ENST00000407008	T	0.44482	0.92	5.95	5.95	0.96441	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.64057	0.2564	M	0.73962	2.25	0.80722	D	1	D	0.76494	0.999	P	0.60068	0.868	T	0.65845	-0.6069	10	0.87932	D	0	-0.577	19.3813	0.94536	0.0:0.0:1.0:0.0	.	428	Q9UBE8	NLK_HUMAN	H	428	ENSP00000384625:D428H	ENSP00000384625:D428H	D	+	1	0	NLK	23542219	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.168000	0.94781	2.824000	0.97209	0.655000	0.94253	GAT		0.438	NLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255607.3		NM_016231		21	70	0	0	0	0.014323	0	21	70		
SRCIN1	80725	broad.mit.edu	37	17	36704795	36704795	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr17:36704795C>G	ENST00000264659.7	-	17	3492	c.3268G>C	c.(3268-3270)Gag>Cag	p.E1090Q	SRCIN1_ENST00000578925.1_Missense_Mutation_p.E1124Q|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	962					exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						TGACCTACCTCTAGCTCTGCG	0.662																																						uc002hqd.2		NaN																	0					0						c.(3268-3270)GAG>CAG		SNAP25-interacting protein							85.0	87.0	86.0					17																	36704795		2077	4199	6276	SO:0001583	missense	80725				exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding	g.chr17:36704795C>G		CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"""p130Cas-associated protein"", ""SNAP-25-interacting protein"""	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.3268G>C	17.37:g.36704795C>G	ENSP00000264659:p.Glu1090Gln					SRCIN1_uc002hqf.1_Missense_Mutation_p.E962Q|SRCIN1_uc002hqe.2_Missense_Mutation_p.E944Q	p.E1090Q	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN			17	3493	-			962					Q75T46|Q8N4W8	Missense_Mutation	SNP	ENST00000264659.7	37	c.3268G>C	CCDS45660.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.216440	0.39201	.	.	ENSG00000017373	ENST00000264659;ENST00000542707;ENST00000398579	T	0.30448	1.53	4.26	4.26	0.50523	.	0.063428	0.64402	D	0.000010	T	0.31979	0.0814	N	0.16567	0.415	0.54753	D	0.999987	D;D;D	0.76494	0.98;0.999;0.999	P;D;D	0.65443	0.773;0.935;0.935	T	0.03017	-1.1082	10	0.02654	T	1	-31.6281	15.6097	0.76707	0.0:1.0:0.0:0.0	.	962;962;1090	Q9C0H9-2;Q9C0H9;Q9C0H9-5	.;SRCN1_HUMAN;.	Q	1090;871;944	ENSP00000264659:E1090Q	ENSP00000264659:E1090Q	E	-	1	0	SRCIN1	33958321	1.000000	0.71417	1.000000	0.80357	0.453000	0.32348	7.127000	0.77210	2.208000	0.71279	0.462000	0.41574	GAG		0.662	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441878.4		NM_025248		22	58	0	0	0	0.010504	0	22	58		
ERBB2	2064	broad.mit.edu	37	17	37880220	37880220	+	Missense_Mutation	SNP	T	T	C	rs121913470|rs121913469		TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr17:37880220T>C	ENST00000269571.5	+	19	2423	c.2264T>C	c.(2263-2265)tTg>tCg	p.L755S	ERBB2_ENST00000540147.1_Missense_Mutation_p.L725S|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000541774.1_Missense_Mutation_p.L740S|ERBB2_ENST00000584601.1_Missense_Mutation_p.L725S|ERBB2_ENST00000445658.2_Missense_Mutation_p.L479S|ERBB2_ENST00000584450.1_Missense_Mutation_p.L755S|ERBB2_ENST00000406381.2_Missense_Mutation_p.L725S			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	755	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		L -> P (in a lung adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:15457249}.		axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.L755S(10)|p.L755P(2)|p.L755_S760>A(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	ATCAAAGTGTTGAGGGAAAAC	0.532	L755S(LN229_CENTRAL_NERVOUS_SYSTEM)	1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												uc002hso.2	L755S(LN229_CENTRAL_NERVOUS_SYSTEM)	1		Dom	yes		17	17q21.1	2064	A|Mis|O	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""			E			breast|ovarian|other tumour types|NSCLC|gastric		13	Substitution - Missense(12)|Complex - insertion inframe(1)	p.L755S(4)|p.L755P(2)|p.L755_S760>A(1)	breast(7)|lung(3)|stomach(2)|large_intestine(1)	lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143						c.(2263-2265)TTG>TCG		erbB-2 isoform a	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						112.0	97.0	102.0					17																	37880220		2203	4300	6503	SO:0001583	missense	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37880220T>C	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2264T>C	17.37:g.37880220T>C	ENSP00000269571:p.Leu755Ser	TCGA GBM(5;<1E-08)				ERBB2_uc002hsm.2_Missense_Mutation_p.L725S|ERBB2_uc010cwa.2_Missense_Mutation_p.L740S|ERBB2_uc002hsp.2_Missense_Mutation_p.L558S|ERBB2_uc010cwb.2_Missense_Mutation_p.L755S|ERBB2_uc010wek.1_Missense_Mutation_p.L479S	p.L755S	NM_004448	NP_004439	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	19	2502	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	755		L -> P (in a lung adenocarcinoma sample; somatic mutation).	Cytoplasmic (Potential).|Protein kinase.		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	c.2264T>C	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	T	32	5.190536	0.94923	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29	5.18	5.18	0.71444	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.83644	0.5299	M	0.86740	2.835	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.86913	0.2062	9	0.87932	D	0	.	14.7238	0.69329	0.0:0.0:0.0:1.0	.	479;740;755	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	S	725;740;479;755;725	ENSP00000385185:L725S;ENSP00000446466:L740S;ENSP00000404047:L479S;ENSP00000269571:L755S;ENSP00000443562:L725S	ENSP00000269571:L755S	L	+	2	0	ERBB2	35133746	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.040000	0.89188	1.955000	0.56771	0.379000	0.24179	TTG		0.532	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2				16	22	0	0	0	0.024245	0	16	22		
SLC25A39	51629	broad.mit.edu	37	17	42400878	42400878	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr17:42400878G>A	ENST00000377095.5	-	2	172	c.53C>T	c.(52-54)tCa>tTa	p.S18L	SLC25A39_ENST00000225308.8_Missense_Mutation_p.S18L|SLC25A39_ENST00000586016.1_Intron|SLC25A39_ENST00000590194.1_Missense_Mutation_p.S18L|SLC25A39_ENST00000537904.2_Missense_Mutation_p.S18L	NM_001143780.1	NP_001137252.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	18					heme biosynthetic process (GO:0006783)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CCCGGTGCCTGAGGCCACCAT	0.607																																						uc002ign.2		NaN																	0				upper_aerodigestive_tract(1)	1						c.(52-54)TCA>TTA		solute carrier family 25, member 39 isoform a							20.0	19.0	19.0					17																	42400878		2193	4294	6487	SO:0001583	missense	51629				heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane		g.chr17:42400878G>A	BC096819	CCDS11482.1, CCDS45700.1	17q12	2013-05-22			ENSG00000013306	ENSG00000013306		"""Solute carriers"""	24279	protein-coding gene	gene with protein product		610820				16949250	Standard	NM_001143780		Approved	FLJ22407, CGI-69	uc002ign.2	Q9BZJ4	OTTHUMG00000132628	ENST00000377095.5:c.53C>T	17.37:g.42400878G>A	ENSP00000366299:p.Ser18Leu					SLC25A39_uc002igm.2_Missense_Mutation_p.S18L|SLC25A39_uc002igo.2_Missense_Mutation_p.S18L|SLC25A39_uc010wiw.1_Missense_Mutation_p.S18L|SLC25A39_uc010czu.2_Intron|SLC25A39_uc010wix.1_Missense_Mutation_p.S18L|SLC25A39_uc010wiy.1_Missense_Mutation_p.S18L	p.S18L	NM_001143780	NP_001137252	Q9BZJ4	S2539_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	2	207	-		Prostate(33;0.0233)	18			Solcar 1.|Helical; Name=1; (Potential).		A8JZZ2|D3DX51|D3DX54|Q4V9M1|Q9P182|Q9UF66|Q9Y379	Missense_Mutation	SNP	ENST00000377095.5	37	c.53C>T	CCDS45700.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.126797	0.77549	.	.	ENSG00000013306	ENST00000225308;ENST00000377095;ENST00000537904	T;T;T	0.79940	-1.32;-1.32;-1.32	4.48	4.48	0.54585	Mitochondrial carrier domain (2);	0.064498	0.64402	D	0.000005	D	0.84401	0.5464	L	0.28740	0.885	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.996;1.0;0.998	D;D;D;D;D	0.97110	0.999;0.999;0.983;1.0;0.972	D	0.86859	0.2028	10	0.87932	D	0	-19.3362	16.9799	0.86324	0.0:0.0:1.0:0.0	.	18;18;18;18;18	B4DVL9;B4DI93;B4DFG5;Q9BZJ4;Q9BZJ4-2	.;.;.;S2539_HUMAN;.	L	18	ENSP00000225308:S18L;ENSP00000366299:S18L;ENSP00000444540:S18L	ENSP00000225308:S18L	S	-	2	0	SLC25A39	39756404	1.000000	0.71417	0.914000	0.36105	0.380000	0.30137	8.215000	0.89762	2.339000	0.79563	0.655000	0.94253	TCA		0.607	SLC25A39-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457745.1		NM_016016		3	3	0	0	0	0.004672	0	3	3		
TTLL6	284076	broad.mit.edu	37	17	46862467	46862467	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr17:46862467C>A	ENST00000393382.3	-	13	1999	c.1858G>T	c.(1858-1860)Gag>Tag	p.E620*	TTLL6_ENST00000433608.2_Nonsense_Mutation_p.E313*	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GTGGGAGCCTCCTGGTTGAGG	0.507																																						uc010wlo.1		NaN																	0					0						c.(1858-1860)GAG>TAG		tubulin tyrosine ligase-like family, member 6							128.0	128.0	128.0					17																	46862467		2203	4300	6503	SO:0001587	stop_gained	284076					cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr17:46862467C>A	AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"""Tubulin tyrosine ligase-like family"""	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.1858G>T	17.37:g.46862467C>A	ENSP00000377043:p.Glu620*					TTLL6_uc002iob.2_Nonsense_Mutation_p.E313*|TTLL6_uc010dbi.2_RNA|TTLL6_uc002ioc.2_Nonsense_Mutation_p.E373*|TTLL6_uc002iod.2_Nonsense_Mutation_p.E467*	p.E620*	NM_001130918	NP_001124390	Q8N841	TTLL6_HUMAN			14	1893	-			572						Nonsense_Mutation	SNP	ENST00000393382.3	37	c.1858G>T	CCDS45724.1	.	.	.	.	.	.	.	.	.	.	C	32	5.192570	0.94960	.	.	ENSG00000170703	ENST00000440941;ENST00000305326;ENST00000433608;ENST00000393382	.	.	.	4.99	-0.734	0.11140	.	48.288500	0.00166	N	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	4.3527	0.11163	0.0:0.4351:0.1643:0.4006	.	.	.	.	X	620;313;298;572	.	ENSP00000302547:E313X	E	-	1	0	TTLL6	44217466	0.040000	0.19996	0.001000	0.08648	0.001000	0.01503	-0.132000	0.10467	-0.147000	0.11254	-0.122000	0.15005	GAG		0.507	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3		NM_173623		49	100	1	0	2.68985e-26	0.01441	2.92954e-26	49	100		
TTLL6	284076	broad.mit.edu	37	17	46862485	46862485	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr17:46862485C>T	ENST00000393382.3	-	13	1981	c.1840G>A	c.(1840-1842)Gac>Aac	p.D614N	TTLL6_ENST00000433608.2_Missense_Mutation_p.D307N	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						AGGCTGCTGTCTGTTTCATTT	0.512																																						uc010wlo.1		NaN																	0					0						c.(1840-1842)GAC>AAC		tubulin tyrosine ligase-like family, member 6							115.0	113.0	114.0					17																	46862485		2203	4300	6503	SO:0001583	missense	284076					cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr17:46862485C>T	AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"""Tubulin tyrosine ligase-like family"""	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.1840G>A	17.37:g.46862485C>T	ENSP00000377043:p.Asp614Asn					TTLL6_uc002iob.2_Missense_Mutation_p.D307N|TTLL6_uc010dbi.2_RNA|TTLL6_uc002ioc.2_Missense_Mutation_p.D367N|TTLL6_uc002iod.2_Missense_Mutation_p.D461N	p.D614N	NM_001130918	NP_001124390	Q8N841	TTLL6_HUMAN			14	1875	-			566						Missense_Mutation	SNP	ENST00000393382.3	37	c.1840G>A	CCDS45724.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.147285	0.37923	.	.	ENSG00000170703	ENST00000440941;ENST00000305326;ENST00000433608;ENST00000393382	.	.	.	4.77	-2.66	0.06077	.	30.710900	0.00166	N	0.000001	T	0.28928	0.0718	L	0.43152	1.355	0.09310	N	1	B;B;B	0.20671	0.028;0.028;0.047	B;B;B	0.18263	0.014;0.014;0.021	T	0.03684	-1.1013	9	0.15066	T	0.55	.	1.0117	0.01498	0.2752:0.2865:0.2684:0.17	.	566;367;307	Q8N841;D3DTW0;G5E937	TTLL6_HUMAN;.;.	N	614;307;292;566	.	ENSP00000302547:D307N	D	-	1	0	TTLL6	44217484	0.000000	0.05858	0.000000	0.03702	0.081000	0.17604	0.032000	0.13732	-0.167000	0.10871	0.655000	0.94253	GAC		0.512	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3		NM_173623		48	96	0	0	0	0.013114	0	48	96		
SPOP	8405	broad.mit.edu	37	17	47688672	47688672	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr17:47688672C>G	ENST00000393328.2	-	7	993	c.628G>C	c.(628-630)Gaa>Caa	p.E210Q	SPOP_ENST00000347630.2_Missense_Mutation_p.E210Q|SPOP_ENST00000503676.1_Missense_Mutation_p.E210Q|SPOP_ENST00000504102.1_Missense_Mutation_p.E210Q|SPOP_ENST00000393331.3_Missense_Mutation_p.E210Q	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	210	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.|Important for homodimerization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GCCTGGAATTCCTGGCCGGCA	0.453										Prostate(2;0.17)																												uc010dbk.2		NaN																	0				prostate(2)|ovary(2)|lung(2)	6						c.(628-630)GAA>CAA		speckle-type POZ protein							106.0	110.0	109.0					17																	47688672		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47688672C>G	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.628G>C	17.37:g.47688672C>G	ENSP00000377001:p.Glu210Gln	Prostate(2;0.17)				SPOP_uc002ipb.2_Missense_Mutation_p.E210Q|SPOP_uc002ipc.2_Missense_Mutation_p.E210Q|SPOP_uc002ipd.2_Missense_Mutation_p.E210Q|SPOP_uc002ipe.2_Missense_Mutation_p.E210Q|SPOP_uc002ipf.2_Missense_Mutation_p.E210Q|SPOP_uc002ipg.2_Missense_Mutation_p.E210Q	p.E210Q	NM_003563	NP_003554	O43791	SPOP_HUMAN			7	1260	-			210			BTB.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.628G>C	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	C	34	5.304650	0.95601	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581	T;T;T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37	5.46	5.46	0.80206	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.69196	0.3084	M	0.72624	2.21	0.80722	D	1	P	0.38440	0.631	B	0.39027	0.288	T	0.68447	-0.5406	10	0.34782	T	0.22	-26.6982	19.0836	0.93192	0.0:1.0:0.0:0.0	.	210	O43791	SPOP_HUMAN	Q	210;210;210;210;94;210;163;210;210	ENSP00000377001:E210Q;ENSP00000377004:E210Q;ENSP00000240327:E210Q;ENSP00000425905:E210Q;ENSP00000420908:E210Q;ENSP00000426986:E210Q;ENSP00000420960:E210Q	ENSP00000240327:E210Q	E	-	1	0	SPOP	45043671	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.583000	0.60964	2.847000	0.97988	0.591000	0.81541	GAA		0.453	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2		NM_003563		77	94	0	0	0	0.01441	0	77	94		
NOG	9241	broad.mit.edu	37	17	54671875	54671875	+	Silent	SNP	C	C	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr17:54671875C>A	ENST00000332822.4	+	1	816	c.291C>A	c.(289-291)ggC>ggA	p.G97G		NM_005450.4	NP_005441.1	Q13253	NOGG_HUMAN	noggin	97					axial mesoderm development (GO:0048318)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cell differentiation in hindbrain (GO:0021533)|cellular response to BMP stimulus (GO:0071773)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal system development (GO:0048706)|endoderm formation (GO:0001706)|epithelial to mesenchymal transition (GO:0001837)|face morphogenesis (GO:0060325)|fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060825)|in utero embryonic development (GO:0001701)|limb development (GO:0060173)|lung morphogenesis (GO:0060425)|mesoderm formation (GO:0001707)|middle ear morphogenesis (GO:0042474)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell migration (GO:0030336)|negative regulation of cytokine activity (GO:0060302)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of glomerulus development (GO:0090193)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostatic bud formation (GO:0060513)|regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000313)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|somite development (GO:0061053)|spinal cord development (GO:0021510)|ureteric bud formation (GO:0060676)|wound healing (GO:0042060)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine binding (GO:0019955)|protein homodimerization activity (GO:0042803)			ovary(1)	1	Breast(9;5.24e-08)					CAGCTGGGGGCGCGGAGGACC	0.751																																						uc002iup.2		NaN																	0					0						c.(289-291)GGC>GGA		noggin precursor							7.0	10.0	9.0					17																	54671875		2131	4136	6267	SO:0001819	synonymous_variant	9241				BMP signaling pathway|cartilage development|cell differentiation in hindbrain|dorsal/ventral pattern formation|embryonic digit morphogenesis|embryonic skeletal joint morphogenesis|epithelial to mesenchymal transition|fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation|middle ear morphogenesis|negative regulation of astrocyte differentiation|negative regulation of BMP signaling pathway|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of cytokine activity|negative regulation of osteoblast differentiation|osteoblast differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of glomerulus development|somatic stem cell maintenance|wound healing	extracellular space	cytokine binding|protein homodimerization activity	g.chr17:54671875C>A	U31202	CCDS11589.1	17q22	2006-04-25	2003-03-12		ENSG00000183691	ENSG00000183691			7866	protein-coding gene	gene with protein product		602991	"""synostoses (multiple) syndrome 1"", ""symphalangism 1 (proximal)"""	SYNS1, SYM1		7666191, 10080184, 11545688	Standard	NM_005450		Approved		uc002iup.2	Q13253	OTTHUMG00000151770	ENST00000332822.4:c.291C>A	17.37:g.54671875C>A							p.G97G	NM_005450	NP_005441	Q13253	NOGG_HUMAN			1	816	+	Breast(9;5.24e-08)		97						Silent	SNP	ENST00000332822.4	37	c.291C>A	CCDS11589.1																																																																																				0.751	NOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323857.1		NM_005450		9	7	1	0	0.000274275	0.004482	0.000282846	9	7		
SMG8	55181	broad.mit.edu	37	17	57288781	57288781	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr17:57288781G>C	ENST00000543872.2	+	2	1633	c.1369G>C	c.(1369-1371)Gag>Cag	p.E457Q	SMG8_ENST00000578922.1_Missense_Mutation_p.E457Q|SMG8_ENST00000580498.1_Intron|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000300917.5_Missense_Mutation_p.E457Q			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	457					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						AAAACTGTATGAGGTGGCTAT	0.438																																						uc002ixi.2		NaN																	0					0						c.(1369-1371)GAG>CAG		SMG8 protein							57.0	59.0	58.0					17																	57288781		2203	4300	6503	SO:0001583	missense	55181				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding	g.chr17:57288781G>C	AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"""chromosome 17 open reading frame 71"", ""smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.1369G>C	17.37:g.57288781G>C	ENSP00000438748:p.Glu457Gln						p.E457Q	NM_018149	NP_060619	Q8ND04	SMG8_HUMAN			1	1411	+	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)		457					Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Missense_Mutation	SNP	ENST00000543872.2	37	c.1369G>C	CCDS11615.1	.	.	.	.	.	.	.	.	.	.	G	10.49	1.365576	0.24684	.	.	ENSG00000167447	ENST00000300917;ENST00000543872	T;T	0.41400	1.0;1.0	5.6	5.6	0.85130	.	0.089642	0.85682	D	0.000000	T	0.28632	0.0709	N	0.08118	0	0.48040	D	0.999574	B	0.18013	0.025	B	0.19666	0.026	T	0.06770	-1.0808	10	0.44086	T	0.13	-21.0028	18.6002	0.91246	0.0:0.0:1.0:0.0	.	457	Q8ND04	SMG8_HUMAN	Q	457	ENSP00000300917:E457Q;ENSP00000438748:E457Q	ENSP00000300917:E457Q	E	+	1	0	SMG8	54643563	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.989000	0.76219	2.628000	0.89032	0.655000	0.94253	GAG		0.438	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2		NM_018149		44	64	0	0	0	0.009718	0	44	64		
USP32	84669	broad.mit.edu	37	17	58288867	58288867	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr17:58288867C>G	ENST00000300896.4	-	20	2382	c.2188G>C	c.(2188-2190)Gaa>Caa	p.E730Q	USP32_ENST00000592339.1_Missense_Mutation_p.E400Q	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	730					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			GCTCCCTTTTCTGTGGGAACT	0.383																																						uc002iyo.1		NaN																	0				lung(2)|breast(2)|large_intestine(1)	5						c.(2188-2190)GAA>CAA		ubiquitin specific protease 32							136.0	130.0	132.0					17																	58288867		2202	4300	6502	SO:0001583	missense	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58288867C>G	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.2188G>C	17.37:g.58288867C>G	ENSP00000300896:p.Glu730Gln					USP32_uc002iyn.1_Missense_Mutation_p.E400Q	p.E730Q	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		20	2474	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		730					Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	37	c.2188G>C	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.075368	0.76415	.	.	ENSG00000170832	ENST00000300896	T	0.30714	1.52	5.47	4.5	0.54988	.	0.044828	0.85682	D	0.000000	T	0.33469	0.0864	L	0.40543	1.245	0.80722	D	1	D	0.53745	0.962	P	0.51079	0.658	T	0.03335	-1.1047	10	0.17832	T	0.49	.	13.9792	0.64295	0.0:0.927:0.0:0.073	.	730	Q8NFA0	UBP32_HUMAN	Q	730	ENSP00000300896:E730Q	ENSP00000300896:E730Q	E	-	1	0	USP32	55643649	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.739000	0.84976	1.312000	0.45043	0.655000	0.94253	GAA		0.383	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2		NM_032582		39	126	0	0	0	0.009718	0	39	126		
USP32	84669	broad.mit.edu	37	17	58289433	58289433	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr17:58289433C>G	ENST00000300896.4	-	19	2325	c.2131G>C	c.(2131-2133)Gag>Cag	p.E711Q	USP32_ENST00000592339.1_Missense_Mutation_p.E381Q	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	711					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			GACATCTCCTCAGGCCAACTC	0.289																																						uc002iyo.1		NaN																	0				lung(2)|breast(2)|large_intestine(1)	5						c.(2131-2133)GAG>CAG		ubiquitin specific protease 32							81.0	83.0	82.0					17																	58289433		2203	4297	6500	SO:0001583	missense	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58289433C>G	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.2131G>C	17.37:g.58289433C>G	ENSP00000300896:p.Glu711Gln					USP32_uc002iyn.1_Missense_Mutation_p.E381Q	p.E711Q	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		19	2417	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		711					Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	37	c.2131G>C	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.890247	0.91889	.	.	ENSG00000170832	ENST00000300896	T	0.51574	0.7	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.66684	0.2814	M	0.69523	2.12	0.80722	D	1	D	0.64830	0.994	D	0.63192	0.912	T	0.68224	-0.5465	10	0.48119	T	0.1	.	18.5194	0.90947	0.0:1.0:0.0:0.0	.	711	Q8NFA0	UBP32_HUMAN	Q	711	ENSP00000300896:E711Q	ENSP00000300896:E711Q	E	-	1	0	USP32	55644215	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.679000	0.84048	2.438000	0.82558	0.655000	0.94253	GAG		0.289	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2		NM_032582		10	43	0	0	0	0.010729	0	10	43		
INTS2	57508	broad.mit.edu	37	17	59946642	59946642	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr17:59946642C>G	ENST00000444766.3	-	22	3229	c.3154G>C	c.(3154-3156)Gag>Cag	p.E1052Q	INTS2_ENST00000251334.6_Missense_Mutation_p.E1044Q	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	1052					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						ACCTGTTTCTCAAGTTCTGGC	0.378																																						uc002izn.2		NaN																	0				ovary(1)|lung(1)|pancreas(1)	3						c.(3154-3156)GAG>CAG		integrator complex subunit 2							31.0	30.0	30.0					17																	59946642		1841	4100	5941	SO:0001583	missense	57508				snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	g.chr17:59946642C>G	AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"""KIAA1287"""	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.3154G>C	17.37:g.59946642C>G	ENSP00000414237:p.Glu1052Gln					INTS2_uc002izm.2_Missense_Mutation_p.E1044Q	p.E1052Q	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN			22	3230	-			1052					Q9ULD3	Missense_Mutation	SNP	ENST00000444766.3	37	c.3154G>C	CCDS45750.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.478315	0.84747	.	.	ENSG00000108506	ENST00000444766;ENST00000251334	T	0.49139	0.79	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.64929	0.2643	L	0.59436	1.845	0.80722	D	1	D	0.61080	0.989	D	0.70487	0.969	T	0.63337	-0.6660	9	.	.	.	-14.1917	17.6503	0.88162	0.0:1.0:0.0:0.0	.	1052	Q9H0H0	INT2_HUMAN	Q	1052;1051	ENSP00000414237:E1052Q	.	E	-	1	0	INTS2	57301424	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.399000	0.79935	2.470000	0.83445	0.650000	0.86243	GAG		0.378	INTS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000445368.1		NM_020748		14	14	0	0	0	0.016723	0	14	14		
TANC2	26115	broad.mit.edu	37	17	61499280	61499280	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr17:61499280C>G	ENST00000424789.2	+	25	5941	c.5937C>G	c.(5935-5937)atC>atG	p.I1979M	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.I1989M	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1979					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CATCCCCTATCAAACCAAAGA	0.498																																						uc002jal.3		NaN																	0				ovary(2)	2						c.(5935-5937)ATC>ATG		tetratricopeptide repeat, ankyrin repeat and							57.0	58.0	58.0					17																	61499280		1981	4159	6140	SO:0001583	missense	26115						binding	g.chr17:61499280C>G	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.5937C>G	17.37:g.61499280C>G	ENSP00000387593:p.Ile1979Met					TANC2_uc010wpe.1_3'UTR|TANC2_uc002jao.3_Missense_Mutation_p.I1090M	p.I1979M	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN			25	5960	+			1979					Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	ENST00000424789.2	37	c.5937C>G	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.009686	0.54361	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.70749	-0.51;-0.51	5.75	5.75	0.90469	.	0.054242	0.64402	D	0.000001	T	0.72938	0.3523	N	0.24115	0.695	0.58432	D	0.999992	D	0.59357	0.985	P	0.56434	0.798	T	0.73783	-0.3874	10	0.51188	T	0.08	.	20.312	0.98644	0.0:1.0:0.0:0.0	.	1979	Q9HCD6	TANC2_HUMAN	M	1989;1979	ENSP00000374171:I1989M;ENSP00000387593:I1979M	ENSP00000374171:I1989M	I	+	3	3	TANC2	58853012	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.700000	0.68318	2.866000	0.98385	0.650000	0.86243	ATC		0.498	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1				28	40	0	0	0	0.024334	0	28	40		
MFSD11	79157	broad.mit.edu	37	17	74737112	74737112	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr17:74737112C>T	ENST00000588460.1	+	3	2268	c.226C>T	c.(226-228)Caa>Taa	p.Q76*	MFSD11_ENST00000355954.3_Nonsense_Mutation_p.Q76*|MFSD11_ENST00000336509.4_Nonsense_Mutation_p.Q76*|MFSD11_ENST00000593181.1_Nonsense_Mutation_p.Q76*|MFSD11_ENST00000590514.1_Nonsense_Mutation_p.Q76*|MFSD11_ENST00000586622.1_Nonsense_Mutation_p.Q76*	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	76						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						TGTAGGACCTCAACTCTCTAT	0.373																																						uc002jta.2		NaN																	0				ovary(1)	1						c.(226-228)CAA>TAA		major facilitator superfamily domain containing							235.0	218.0	224.0					17																	74737112		2203	4300	6503	SO:0001587	stop_gained	79157					integral to membrane		g.chr17:74737112C>T	BC002753	CCDS11750.1, CCDS56045.1	17q25.1	2012-03-09			ENSG00000092931	ENSG00000092931			25458	protein-coding gene	gene with protein product						9358160	Standard	NM_001242532		Approved	FLJ22196, FLJ20226	uc002jte.3	O43934		ENST00000588460.1:c.226C>T	17.37:g.74737112C>T	ENSP00000464932:p.Gln76*					MFSD11_uc002jtb.2_Nonsense_Mutation_p.Q76*|MFSD11_uc010dha.2_Nonsense_Mutation_p.Q76*|MFSD11_uc002jtc.2_Nonsense_Mutation_p.Q76*|MFSD11_uc002jtd.3_Nonsense_Mutation_p.Q76*|MFSD11_uc010dhb.2_Nonsense_Mutation_p.Q76*|MFSD11_uc002jte.2_Nonsense_Mutation_p.Q76*	p.Q76*	NM_024311	NP_077287	O43934	MFS11_HUMAN			4	1199	+			76			Helical; (Potential).		O43442|Q9NXI5	Nonsense_Mutation	SNP	ENST00000588460.1	37	c.226C>T	CCDS11750.1	.	.	.	.	.	.	.	.	.	.	C	40	8.118865	0.98662	.	.	ENSG00000092931	ENST00000336509;ENST00000355954	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.3407	20.0522	0.97631	0.0:1.0:0.0:0.0	.	.	.	.	X	76	.	ENSP00000337240:Q76X	Q	+	1	0	MFSD11	72248707	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.754000	0.68743	2.737000	0.93849	0.563000	0.77884	CAA		0.373	MFSD11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451516.1		NM_024311		58	96	0	0	0	0.01441	0	58	96		
RNF213	57674	broad.mit.edu	37	17	78318559	78318559	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr17:78318559G>A	ENST00000582970.1	+	29	6567	c.6424G>A	c.(6424-6426)Gag>Aag	p.E2142K	RNF213_ENST00000508628.2_Missense_Mutation_p.E2191K|RNF213_ENST00000336301.6_Missense_Mutation_p.E215K	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2142					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)	p.E2191Q(1)|p.E215Q(1)		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)			GATAGACATGGAGCTGAGTGC	0.488																																						uc002jyh.1		NaN																	2	Substitution - Missense(2)		lung(2)	ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21						c.(643-645)GAG>AAG		ring finger protein 213							127.0	121.0	124.0					17																	78318559		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78318559G>A	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.6424G>A	17.37:g.78318559G>A	ENSP00000464087:p.Glu2142Lys						p.E215K	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		4	866	+	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.643G>A	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	10.97	1.500274	0.26861	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.24350	1.86	5.57	3.43	0.39272	.	0.225700	0.36268	N	0.002686	T	0.27559	0.0677	M	0.69823	2.125	0.27583	N	0.949517	P	0.44627	0.839	P	0.44394	0.448	T	0.09818	-1.0657	10	0.12103	T	0.63	.	9.101	0.36669	0.146:0.1345:0.7196:0.0	.	215	Q63HN8	RN213_HUMAN	K	2142;2191;215	ENSP00000338218:E215K	ENSP00000338218:E215K	E	+	1	0	RNF213	75933154	1.000000	0.71417	0.967000	0.41034	0.316000	0.28119	5.615000	0.67702	1.348000	0.45733	0.655000	0.94253	GAG		0.488	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1		NM_020914		81	125	0	0	0	0.01441	0	81	125		
SLC14A1	6563	broad.mit.edu	37	18	43328388	43328388	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr18:43328388G>C	ENST00000321925.4	+	9	1226	c.994G>C	c.(994-996)Gag>Cag	p.E332Q	SLC14A1_ENST00000586142.1_Missense_Mutation_p.E332Q|RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000502059.2_Missense_Mutation_p.E224Q|SLC14A1_ENST00000436407.3_Missense_Mutation_p.E388Q|SLC14A1_ENST00000415427.3_Missense_Mutation_p.E388Q|SLC14A1_ENST00000591541.1_Missense_Mutation_p.E36Q|SLC14A1_ENST00000535474.1_Missense_Mutation_p.E200Q|SLC14A1_ENST00000402943.2_Missense_Mutation_p.E227Q|SLC14A1_ENST00000589700.1_Silent_p.L282L	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1 (Kidd blood group)	332					transmembrane transport (GO:0055085)|urea transmembrane transport (GO:0071918)|urea transport (GO:0015840)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	urea channel activity (GO:0015265)|urea transmembrane transporter activity (GO:0015204)|water transmembrane transporter activity (GO:0005372)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						CTTTATGGCTGAGGTGAGTTT	0.448																																						uc010xcn.1		NaN																	0				central_nervous_system(1)|pancreas(1)	2						c.(994-996)GAG>CAG		solute carrier family 14 (urea transporter),							230.0	206.0	214.0					18																	43328388		2203	4300	6503	SO:0001583	missense	6563					integral to plasma membrane	urea transmembrane transporter activity	g.chr18:43328388G>C	BC040128	CCDS11925.1, CCDS45860.1	18q11-q12	2014-07-19	2014-01-02		ENSG00000141469	ENSG00000141469		"""Blood group antigens"", ""Solute carriers"""	10918	protein-coding gene	gene with protein product		613868	"""Kidd blood group"", ""solute carrier family 14 (urea transporter), member 1"""	JK		7797558	Standard	NM_001146037		Approved	HsT1341, RACH1, RACH2	uc010dnk.3	Q13336	OTTHUMG00000132617	ENST00000321925.4:c.994G>C	18.37:g.43328388G>C	ENSP00000318546:p.Glu332Gln					SLC14A1_uc010dnk.2_Missense_Mutation_p.E388Q|SLC14A1_uc002lbf.3_Missense_Mutation_p.E332Q|SLC14A1_uc002lbg.3_RNA|SLC14A1_uc010xco.1_Missense_Mutation_p.E227Q|SLC14A1_uc002lbh.3_Missense_Mutation_p.E224Q|SLC14A1_uc002lbi.3_Missense_Mutation_p.E200Q|SLC14A1_uc002lbj.3_Missense_Mutation_p.E388Q|SLC14A1_uc002lbk.3_Missense_Mutation_p.E332Q	p.E332Q	NM_001146036	NP_001139508	Q13336	UT1_HUMAN			10	1313	+			332					A8K0P3|B3KR62|B3KVX3|C9EHF2|Q86VM5	Missense_Mutation	SNP	ENST00000321925.4	37	c.994G>C	CCDS11925.1	.	.	.	.	.	.	.	.	.	.	G	6.440	0.449359	0.12223	.	.	ENSG00000141469	ENST00000321925;ENST00000415427;ENST00000502059;ENST00000402943;ENST00000535474;ENST00000436407	T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76	5.57	-1.7	0.08159	.	1.562900	0.03356	N	0.196857	T	0.29914	0.0748	N	0.14661	0.345	0.09310	N	1	B;B;B	0.10296	0.003;0.001;0.001	B;B;B	0.15870	0.014;0.001;0.002	T	0.16897	-1.0387	10	0.15499	T	0.54	0.7816	9.2885	0.37771	0.2107:0.1279:0.6614:0.0	.	388;224;332	Q13336-2;B3KXJ3;Q13336	.;.;UT1_HUMAN	Q	332;388;224;227;200;388	ENSP00000318546:E332Q;ENSP00000412309:E388Q;ENSP00000442180:E224Q;ENSP00000385320:E227Q;ENSP00000441998:E200Q;ENSP00000390637:E388Q	ENSP00000318546:E332Q	E	+	1	0	SLC14A1	41582386	0.378000	0.25114	0.001000	0.08648	0.001000	0.01503	-0.096000	0.11059	-0.472000	0.06881	-1.004000	0.02495	GAG		0.448	SLC14A1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255860.2		NM_015865		24	52	0	0	0	0.014323	0	24	52		
SERPINB8	5271	broad.mit.edu	37	18	61647088	61647088	+	Silent	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr18:61647088C>T	ENST00000397985.2	+	3	478	c.222C>T	c.(220-222)ctC>ctT	p.L74L	SERPINB8_ENST00000353706.2_Silent_p.L74L|SERPINB8_ENST00000542677.1_5'UTR|SERPINB8_ENST00000397988.3_Silent_p.L74L|HMSD_ENST00000481726.1_3'UTR	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	74					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				AGTCACTTCTCAGTGAAGTTA	0.418											OREG0025042	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002ljv.2		NaN																	0				skin(1)	1						c.(220-222)CTC>CTT		serine (or cysteine) proteinase inhibitor, clade							158.0	154.0	155.0					18																	61647088		2203	4300	6503	SO:0001819	synonymous_variant	5271				regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61647088C>T	L40377	CCDS11991.1, CCDS42442.1, CCDS62460.1	18q22.1	2014-02-18	2005-08-18		ENSG00000166401	ENSG00000166401		"""Serine (or cysteine) peptidase inhibitors"""	8952	protein-coding gene	gene with protein product	"""cytoplasmic antiproteinase 2"""	601697	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8"""	PI8		8530382, 9268635, 24172014	Standard	NM_198833		Approved	CAP2	uc002lju.3	P50452	OTTHUMG00000060596	ENST00000397985.2:c.222C>T	18.37:g.61647088C>T			OREG0025042	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1055	SERPINB8_uc002ljs.1_Silent_p.L74L|SERPINB8_uc002ljt.2_Silent_p.L74L|SERPINB8_uc002lju.2_Silent_p.L74L|SERPINB8_uc010xex.1_5'UTR	p.L74L	NM_198833	NP_942130	P50452	SPB8_HUMAN			3	391	+		Esophageal squamous(42;0.129)	74					B4DTW2|Q7Z2V6|Q8N178	Silent	SNP	ENST00000397985.2	37	c.222C>T	CCDS11991.1	.	.	.	.	.	.	.	.	.	.	C	4.083	0.013396	0.07912	.	.	ENSG00000166401	ENST00000295211	.	.	.	4.75	3.86	0.44501	.	.	.	.	.	T	0.27098	0.0664	.	.	.	0.22185	N	0.999307	.	.	.	.	.	.	T	0.10989	-1.0606	4	.	.	.	.	5.2115	0.15318	0.1452:0.6314:0.1411:0.0823	.	.	.	.	L	16	.	.	S	+	2	0	SERPINB8	59798068	0.000000	0.05858	0.507000	0.27676	0.074000	0.17049	-0.891000	0.04135	2.465000	0.83290	0.591000	0.81541	TCA		0.418	SERPINB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134014.1		NM_001031848		40	71	0	0	0	0.027894	0	40	71		
SOCS6	9306	broad.mit.edu	37	18	67992983	67992983	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr18:67992983C>T	ENST00000397942.3	+	2	1395	c.1079C>T	c.(1078-1080)tCa>tTa	p.S360L	SOCS6_ENST00000582322.1_Missense_Mutation_p.S360L	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	360					defense response (GO:0006952)|JAK-STAT cascade (GO:0007259)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell activation (GO:0050868)|proteasomal protein catabolic process (GO:0010498)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|immunological synapse (GO:0001772)		p.S360L(1)		NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				GTTTATGACTCAGTGCAAAGT	0.493																																					Melanoma(84;1024 1361 24382 36583 42651)	uc002lkr.1		NaN																	1	Substitution - Missense(1)		kidney(1)	large_intestine(1)|lung(1)	2						c.(1078-1080)TCA>TTA		suppressor of cytokine signaling 6							82.0	79.0	80.0					18																	67992983		2203	4300	6503	SO:0001583	missense	9306				defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm		g.chr18:67992983C>T	AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16833	protein-coding gene	gene with protein product		605118	"""suppressor of cytokine signaling 4"""	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.1079C>T	18.37:g.67992983C>T	ENSP00000381034:p.Ser360Leu					SOCS6_uc010dqq.2_Missense_Mutation_p.S360L	p.S360L	NM_004232	NP_004223	O14544	SOCS6_HUMAN			2	1395	+		Esophageal squamous(42;0.129)|Colorectal(73;0.152)	360					Q8WUM3	Missense_Mutation	SNP	ENST00000397942.3	37	c.1079C>T	CCDS11998.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544220	0.65198	.	.	ENSG00000170677	ENST00000397942	T	0.25085	1.82	5.34	5.34	0.76211	.	0.086330	0.48767	D	0.000173	T	0.19967	0.0480	L	0.27053	0.805	0.80722	D	1	P	0.35656	0.514	B	0.27887	0.084	T	0.03597	-1.1021	10	0.54805	T	0.06	-8.8137	19.0707	0.93134	0.0:1.0:0.0:0.0	.	360	O14544	SOCS6_HUMAN	L	360	ENSP00000381034:S360L	ENSP00000381034:S360L	S	+	2	0	SOCS6	66143963	1.000000	0.71417	0.955000	0.39395	0.978000	0.69477	7.613000	0.82986	2.507000	0.84556	0.561000	0.74099	TCA		0.493	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256270.2				15	37	0	0	0	0.020292	0	15	37		
MIDN	90007	broad.mit.edu	37	19	1255046	1255046	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr19:1255046C>G	ENST00000591446.2	+	5	1251	c.842C>G	c.(841-843)tCa>tGa	p.S281*	MIDN_ENST00000300952.2_Nonsense_Mutation_p.S281*			Q504T8	MIDN_HUMAN	midnolin	281						cytosol (GO:0005829)|nucleolus (GO:0005730)				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGTCTTCTCAGGGACCTTC	0.637																																						uc002lrp.2		NaN																	0					0						c.(841-843)TCA>TGA		midnolin							65.0	67.0	66.0					19																	1255046		2203	4299	6502	SO:0001587	stop_gained	90007					nucleolus		g.chr19:1255046C>G	AC004221	CCDS32864.1	19p13.3	2013-09-20			ENSG00000167470	ENSG00000167470			16298	protein-coding gene	gene with protein product		606700				10974535	Standard	XM_005259671		Approved		uc002lrp.3	Q504T8	OTTHUMG00000180144	ENST00000591446.2:c.842C>G	19.37:g.1255046C>G	ENSP00000467679:p.Ser281*						p.S281*	NM_177401	NP_796375	Q504T8	MIDN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	1357	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	281					Q96BW8	Nonsense_Mutation	SNP	ENST00000591446.2	37	c.842C>G	CCDS32864.1	.	.	.	.	.	.	.	.	.	.	C	43	9.836791	0.99276	.	.	ENSG00000167470	ENST00000300952	.	.	.	3.62	3.62	0.41486	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.416	14.0132	0.64509	0.0:1.0:0.0:0.0	.	.	.	.	X	281	.	ENSP00000300952:S281X	S	+	2	0	MIDN	1206046	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.932000	0.75869	1.864000	0.54056	0.561000	0.74099	TCA		0.637	MIDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449965.2				18	65	0	0	0	0.008871	0	18	65		
LRG1	116844	broad.mit.edu	37	19	4538815	4538815	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr19:4538815C>T	ENST00000306390.6	-	2	641	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K	LRG1_ENST00000586883.1_5'UTR|CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	61					brown fat cell differentiation (GO:0050873)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGGGATTTCGGCAGGTGGT	0.637																																						uc002mau.2		NaN																	0				ovary(1)	1						c.(181-183)GAA>AAA		leucine-rich alpha-2-glycoprotein 1 precursor							58.0	52.0	54.0					19																	4538815		2203	4300	6503	SO:0001583	missense	116844					extracellular region|membrane		g.chr19:4538815C>T		CCDS12130.1	19p13.3	2013-09-20			ENSG00000171236	ENSG00000171236			29480	protein-coding gene	gene with protein product	"""leucine rich alpha 2 glycoprotein"""	611289				3856868, 12223515	Standard	NM_052972		Approved	LRG	uc002mau.3	P02750	OTTHUMG00000182010	ENST00000306390.6:c.181G>A	19.37:g.4538815C>T	ENSP00000302621:p.Glu61Lys					PLIN5_uc002mat.1_Intron	p.E61K	NM_052972	NP_443204	P02750	A2GL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	2	192	-		Hepatocellular(1079;0.137)	61					Q8N4F5|Q96QZ4	Missense_Mutation	SNP	ENST00000306390.6	37	c.181G>A	CCDS12130.1	.	.	.	.	.	.	.	.	.	.	.	0.011	-1.728592	0.00694	.	.	ENSG00000171236	ENST00000306390;ENST00000538589	T	0.54866	0.55	4.25	-8.5	0.00927	.	2.834970	0.01338	N	0.011473	T	0.33731	0.0873	N	0.16037	0.36	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.50432	-0.8829	10	0.19590	T	0.45	1.0447	12.1159	0.53866	0.0:0.3097:0.5156:0.1748	.	61	P02750	A2GL_HUMAN	K	61	ENSP00000302621:E61K	ENSP00000302621:E61K	E	-	1	0	LRG1	4489815	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.371000	0.00244	-5.869000	0.00008	-2.697000	0.00138	GAA		0.637	LRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458654.2		NM_052972		6	61	0	0	0	0.021553	0	6	61		
KRI1	65095	broad.mit.edu	37	19	10670361	10670361	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr19:10670361G>C	ENST00000312962.6	-	11	988	c.969C>G	c.(967-969)atC>atG	p.I323M	KRI1_ENST00000361821.5_Missense_Mutation_p.I319M|KRI1_ENST00000537964.1_5'Flank	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	317	Glu-rich.					nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CGGAGGACGCGATGCTGCGTG	0.617																																						uc002moy.1		NaN																	0				ovary(1)	1						c.(967-969)ATC>ATG		KRI1 homolog							83.0	80.0	81.0					19																	10670361		2203	4300	6503	SO:0001583	missense	65095							g.chr19:10670361G>C		CCDS12242.1	19p13.2	2008-02-05			ENSG00000129347	ENSG00000129347			25769	protein-coding gene	gene with protein product						12878157	Standard	NM_023008		Approved	FLJ12949	uc002moy.1	Q8N9T8	OTTHUMG00000150343	ENST00000312962.6:c.969C>G	19.37:g.10670361G>C	ENSP00000320917:p.Ile323Met					KRI1_uc002mow.1_Translation_Start_Site|KRI1_uc002mox.1_Missense_Mutation_p.I319M	p.I323M	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		11	978	-			323			Glu-rich.		Q2M1R5|Q2M1R7|Q7L5J7|Q96G92|Q9BU50|Q9H6I1|Q9H978	Missense_Mutation	SNP	ENST00000312962.6	37	c.969C>G	CCDS12242.1	.	.	.	.	.	.	.	.	.	.	G	8.976	0.974127	0.18736	.	.	ENSG00000129347	ENST00000312962;ENST00000361821;ENST00000541101	T;T	0.11385	2.96;2.78	5.11	-1.68	0.08212	.	0.053322	0.64402	D	0.000001	T	0.19406	0.0466	L	0.54908	1.71	0.24132	N	0.995762	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.04268	-1.0964	10	0.41790	T	0.15	-19.5651	6.1773	0.20451	0.3759:0.0:0.4994:0.1248	.	323;319	Q8N9T8;D3YTE0	KRI1_HUMAN;.	M	323;319;323	ENSP00000320917:I323M;ENSP00000355366:I319M	ENSP00000320917:I323M	I	-	3	3	KRI1	10531361	0.000000	0.05858	0.052000	0.19188	0.068000	0.16541	-0.656000	0.05342	-0.058000	0.13177	-0.964000	0.02622	ATC		0.617	KRI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317705.1		NM_023008		17	49	0	0	0	0.00499	0	17	49		
NOTCH3	4854	broad.mit.edu	37	19	15281188	15281188	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr19:15281188G>A	ENST00000263388.2	-	27	5143	c.5068C>T	c.(5068-5070)Cac>Tac	p.H1690Y		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1690					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CGGCCCTTGTGACCAGAGGCC	0.657																																						uc002nan.2		NaN																	0				lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21						c.(5068-5070)CAC>TAC		Notch homolog 3 precursor							40.0	44.0	43.0					19																	15281188		2203	4300	6503	SO:0001583	missense	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15281188G>A	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.5068C>T	19.37:g.15281188G>A	ENSP00000263388:p.His1690Tyr						p.H1690Y	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		27	5144	-			1690			Cytoplasmic (Potential).		Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	c.5068C>T	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.771289	0.49680	.	.	ENSG00000074181	ENST00000263388	T	0.81330	-1.48	3.81	2.7	0.31948	.	.	.	.	.	T	0.60534	0.2276	N	0.08118	0	0.39186	D	0.962874	P	0.44195	0.828	B	0.39299	0.296	T	0.66476	-0.5914	9	0.66056	D	0.02	.	7.9431	0.29969	0.0:0.0:0.6595:0.3405	.	1690	Q9UM47	NOTC3_HUMAN	Y	1690	ENSP00000263388:H1690Y	ENSP00000263388:H1690Y	H	-	1	0	NOTCH3	15142188	1.000000	0.71417	0.904000	0.35570	0.495000	0.33615	6.422000	0.73357	1.972000	0.57404	0.585000	0.79938	CAC		0.657	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1		NM_000435		15	32	0	0	0	0.024245	0	15	32		
NWD1	284434	broad.mit.edu	37	19	16902160	16902160	+	Splice_Site	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr19:16902160G>C	ENST00000552788.1	+	12	2940		c.e12-1		NWD1_ENST00000523826.1_Splice_Site|NWD1_ENST00000524140.2_Splice_Site|NWD1_ENST00000339803.6_Splice_Site|NWD1_ENST00000379808.3_Splice_Site|NWD1_ENST00000549814.1_Splice_Site			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1								ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TATTCTATTAGATCAATGCTT	0.483																																						uc002neu.3		NaN																	0				skin(3)|ovary(2)|pancreas(2)	7						c.e14-1		RecName: Full=NACHT and WD repeat domain-containing protein 1;							99.0	97.0	98.0					19																	16902160		2203	4300	6503	SO:0001630	splice_region_variant	284434						ATP binding	g.chr19:16902160G>C	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.2941-1G>C	19.37:g.16902160G>C						NWD1_uc002net.3_Splice_Site_p.I846_splice|NWD1_uc002nev.3_Splice_Site_p.I775_splice	p.I981_splice			Q149M9	NWD1_HUMAN			14	3363	+								C9J021|Q68CT3	Splice_Site	SNP	ENST00000552788.1	37	c.2941_splice		.	.	.	.	.	.	.	.	.	.	G	11.70	1.717363	0.30413	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7372	0.69424	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NWD1	16763160	1.000000	0.71417	0.610000	0.28997	0.243000	0.25628	5.060000	0.64312	2.551000	0.86045	0.655000	0.94253	.		0.483	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1		NM_001007525	Intron	31	69	0	0	0	0.010818	0	31	69		
ZNF430	80264	broad.mit.edu	37	19	21240308	21240308	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr19:21240308G>C	ENST00000261560.5	+	5	1375	c.1194G>C	c.(1192-1194)gaG>gaC	p.E398D	AC012627.1_ENST00000578233.1_RNA	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	398					regulation of transcription, DNA-templated (GO:0006355)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						ATACTGGAGAGAAATTCTACA	0.353																																						uc002npj.2		NaN																	0				skin(2)	2						c.(1192-1194)GAG>GAC		zinc finger protein 430							26.0	28.0	27.0					19																	21240308		2172	4287	6459	SO:0001583	missense	80264				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21240308G>C	AK023721	CCDS32978.1	19p12	2013-01-08				ENSG00000118620		"""Zinc fingers, C2H2-type"", ""-"""	20808	protein-coding gene	gene with protein product							Standard	NM_025189		Approved	FLJ13659	uc002npj.3	Q9H8G1		ENST00000261560.5:c.1194G>C	19.37:g.21240308G>C	ENSP00000261560:p.Glu398Asp					ZNF430_uc002npk.2_Missense_Mutation_p.E397D	p.E398D	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN			5	1304	+			398					Q86V70	Missense_Mutation	SNP	ENST00000261560.5	37	c.1194G>C	CCDS32978.1	.	.	.	.	.	.	.	.	.	.	.	11.85	1.761951	0.31228	.	.	ENSG00000118620	ENST00000261560	T	0.26810	1.71	1.05	-1.86	0.07760	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31857	0.0810	L	0.33245	0.995	0.28055	N	0.933224	P;P	0.47191	0.885;0.891	D;P	0.66351	0.943;0.823	T	0.29671	-1.0004	9	0.87932	D	0	.	5.3695	0.16132	0.432:0.0:0.568:0.0	.	397;398	Q2NKJ9;Q9H8G1	.;ZN430_HUMAN	D	398	ENSP00000261560:E398D	ENSP00000261560:E398D	E	+	3	2	ZNF430	21032148	0.997000	0.39634	0.006000	0.13384	0.006000	0.05464	0.294000	0.19047	-0.449000	0.07117	-0.448000	0.05591	GAG		0.353	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463539.1		NM_025189		10	46	0	0	0	0.006214	0	10	46		
C19orf40	91442	broad.mit.edu	37	19	33467384	33467384	+	Silent	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr19:33467384G>A	ENST00000588258.1	+	5	554	c.444G>A	c.(442-444)aaG>aaA	p.K148K	C19orf40_ENST00000589646.1_Silent_p.K53K|C19orf40_ENST00000590179.1_Silent_p.K53K|C19orf40_ENST00000590281.1_Silent_p.K148K	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN	chromosome 19 open reading frame 40	148					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					TTCTCGGGAAGAAACGGGCCC	0.547								Direct reversal of damage			OREG0025408	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002nud.3		NaN																	0					0						c.(442-444)AAG>AAA	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia-associated protein, 24 kDa							78.0	77.0	77.0					19																	33467384		2203	4300	6503	SO:0001819	synonymous_variant	91442				DNA repair	Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding	g.chr19:33467384G>A	AK128668	CCDS12426.1, CCDS74327.1	19q13.11	2011-11-24			ENSG00000131944	ENSG00000131944			28467	protein-coding gene	gene with protein product	"""Fanconi anemia-associated protein, 24kDa"""	610884				17289582	Standard	XM_005259393		Approved	FLJ46828, MGC32020, FAAP24	uc002nud.4	Q9BTP7		ENST00000588258.1:c.444G>A	19.37:g.33467384G>A			OREG0025408	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	840		p.K148K	NM_152266	NP_689479	Q9BTP7	FAP24_HUMAN			5	562	+	Esophageal squamous(110;0.137)		148					B3KY46|Q8WUJ7|Q96FX6	Silent	SNP	ENST00000588258.1	37	c.444G>A	CCDS12426.1																																																																																				0.547	C19orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450823.2		NM_152266		29	68	0	0	0	0.007291	0	29	68		
MAP4K1	11184	broad.mit.edu	37	19	39104548	39104548	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr19:39104548G>A	ENST00000591517.1	-	8	533	c.505C>T	c.(505-507)Cgc>Tgc	p.R169C	MAP4K1_ENST00000396857.2_Missense_Mutation_p.R169C|MAP4K1_ENST00000589002.1_5'UTR|MAP4K1_ENST00000586296.1_Missense_Mutation_p.R169C|MAP4K1_ENST00000589130.1_Missense_Mutation_p.R165C|MAP4K1_ENST00000423454.2_De_novo_Start_InFrame	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	169	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AAAGAGAGGCGTCTGGCCAGT	0.627																																						uc002oix.1		NaN																	0				skin(4)|lung(3)|ovary(1)	8						c.(505-507)CGC>TGC		mitogen-activated protein kinase kinase kinase							36.0	43.0	40.0					19																	39104548		2009	4176	6185	SO:0001583	missense	11184				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	g.chr19:39104548G>A	U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6863	protein-coding gene	gene with protein product	"""hematopoietic progenitor kinase 1"""	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.505C>T	19.37:g.39104548G>A	ENSP00000465039:p.Arg169Cys					MAP4K1_uc002oiy.1_Missense_Mutation_p.R169C|MAP4K1_uc010xug.1_Translation_Start_Site	p.R169C	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		8	613	-	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		169			Protein kinase.			Missense_Mutation	SNP	ENST00000591517.1	37	c.505C>T	CCDS59385.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.315842	0.60524	.	.	ENSG00000104814	ENST00000396857;ENST00000221409	T	0.65178	-0.14	4.6	3.52	0.40303	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	0.64402	D	0.000003	T	0.76205	0.3955	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.911	T	0.77469	-0.2576	10	0.87932	D	0	.	10.5799	0.45248	0.0:0.0:0.5194:0.4806	.	169;169	Q92918-2;Q92918	.;M4K1_HUMAN	C	169	ENSP00000380066:R169C	ENSP00000221409:R169C	R	-	1	0	MAP4K1	43796388	0.914000	0.31030	0.998000	0.56505	0.860000	0.49131	1.375000	0.34295	0.870000	0.35726	0.558000	0.71614	CGC		0.627	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1		NM_001042600		7	16	0	0	0	0.001984	0	7	16		
SUPT5H	6829	broad.mit.edu	37	19	39955605	39955605	+	Silent	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr19:39955605C>G	ENST00000599117.1	+	12	1159	c.792C>G	c.(790-792)ctC>ctG	p.L264L	SUPT5H_ENST00000432763.2_Silent_p.L264L|SUPT5H_ENST00000359191.6_Silent_p.L260L|SUPT5H_ENST00000598725.1_Silent_p.L264L|SUPT5H_ENST00000402194.2_Silent_p.L260L			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	264	Interaction with SUPT4H1.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAGACGTGCTCAAAGTGGTGA	0.602																																						uc002olo.3		NaN																	0				ovary(3)|pancreas(1)	4						c.(790-792)CTC>CTG		suppressor of Ty 5 homolog isoform a							99.0	82.0	88.0					19																	39955605		2203	4300	6503	SO:0001819	synonymous_variant	6829				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity	g.chr19:39955605C>G	U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.792C>G	19.37:g.39955605C>G						SUPT5H_uc002olp.3_Silent_p.L264L|SUPT5H_uc002olq.3_Silent_p.L260L|SUPT5H_uc002oln.3_Silent_p.L264L|SUPT5H_uc002olr.3_Silent_p.L264L|SUPT5H_uc002ols.1_5'Flank	p.L264L	NM_001111020	NP_001104490	O00267	SPT5H_HUMAN	Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		11	971	+	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		264			Interaction with SUPT4H1.		O43279|Q59G52|Q99639	Silent	SNP	ENST00000599117.1	37	c.792C>G	CCDS12536.1																																																																																				0.602	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1		NM_003169		22	71	0	0	0	0.010504	0	22	71		
DYRK1B	9149	broad.mit.edu	37	19	40316442	40316442	+	Silent	SNP	T	T	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr19:40316442T>G	ENST00000593685.1	-	11	2271	c.1803A>C	c.(1801-1803)ccA>ccC	p.P601P	DYRK1B_ENST00000323039.5_Silent_p.P601P|DYRK1B_ENST00000430012.2_Silent_p.P561P|DYRK1B_ENST00000348817.3_Silent_p.P573P|DYRK1B_ENST00000597639.1_Silent_p.P573P			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	601					adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			GCGGGAGGGGTGGACGACCTC	0.716																																						uc002omj.2		NaN																	0				ovary(4)|stomach(1)|central_nervous_system(1)|skin(1)	7						c.(1801-1803)CCA>CCC		dual-specificity tyrosine-(Y)-phosphorylation							7.0	9.0	8.0					19																	40316442		2165	4233	6398	SO:0001819	synonymous_variant	9149				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity	g.chr19:40316442T>G	Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"""minibrain-related kinase"""	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.1803A>C	19.37:g.40316442T>G						DYRK1B_uc002omi.2_Silent_p.P573P|DYRK1B_uc002omk.2_Silent_p.P561P	p.P601P	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)		11	2083	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		601					O75258|O75788|O75789	Silent	SNP	ENST00000593685.1	37	c.1803A>C	CCDS12543.1																																																																																				0.716	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2		NM_004714		5	8	0	0	0	0.001984	0	5	8		
PVR	5817	broad.mit.edu	37	19	45157217	45157217	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr19:45157217G>A	ENST00000425690.3	+	4	1072	c.773G>A	c.(772-774)gGc>gAc	p.G258D	CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000406449.4_Missense_Mutation_p.G258D|PVR_ENST00000403059.4_Missense_Mutation_p.G258D|PVR_ENST00000344956.4_Missense_Mutation_p.G258D	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	258	Ig-like C2-type 2.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|receptor activity (GO:0004872)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		TGGTACCTTGGCCAGAATGAG	0.582																																						uc002ozm.2		NaN																	0					0						c.(772-774)GGC>GAC		poliovirus receptor isoform alpha							118.0	124.0	122.0					19																	45157217		2203	4300	6503	SO:0001583	missense	5817				adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity	g.chr19:45157217G>A	BC015542	CCDS12640.1, CCDS46105.1, CCDS46106.1, CCDS46107.1	19q13.2	2013-01-29			ENSG00000073008	ENSG00000073008		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9705	protein-coding gene	gene with protein product	"""nectin-like 5"""	173850		PVS		2170108	Standard	XM_005259120		Approved	CD155, HVED, Necl-5, NECL5, Tage4	uc002ozm.3	P15151	OTTHUMG00000151527	ENST00000425690.3:c.773G>A	19.37:g.45157217G>A	ENSP00000402060:p.Gly258Asp					PVR_uc010ejs.2_Missense_Mutation_p.G258D|PVR_uc010xxb.1_Missense_Mutation_p.G258D|PVR_uc010xxc.1_Missense_Mutation_p.G258D|PVR_uc002ozn.2_Missense_Mutation_p.G203D	p.G258D	NM_006505	NP_006496	P15151	PVR_HUMAN		Epithelial(262;0.000601)	4	1072	+	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)	258			Extracellular (Potential).|Ig-like C2-type 2.		B4DTS9|P15152|Q15267|Q15268|Q96BJ1	Missense_Mutation	SNP	ENST00000425690.3	37	c.773G>A	CCDS12640.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.217236	0.58560	.	.	ENSG00000073008	ENST00000344956;ENST00000425690;ENST00000406449;ENST00000403059	T;T;T;T	0.32988	1.43;1.43;1.43;1.43	4.72	3.68	0.42216	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.417554	0.20205	N	0.097011	T	0.57932	0.2087	M	0.90082	3.085	0.29705	N	0.839897	D;D;D;D	0.61697	0.985;0.982;0.99;0.984	P;D;D;D	0.69479	0.853;0.943;0.964;0.922	T	0.60260	-0.7298	10	0.72032	D	0.01	.	9.0671	0.36469	0.1038:0.0:0.8962:0.0	.	258;258;258;258	P15151-2;P15151-3;P15151-4;P15151	.;.;.;PVR_HUMAN	D	258	ENSP00000340870:G258D;ENSP00000402060:G258D;ENSP00000383907:G258D;ENSP00000385344:G258D	ENSP00000340870:G258D	G	+	2	0	PVR	49849057	0.984000	0.35163	0.009000	0.14445	0.004000	0.04260	4.199000	0.58426	1.137000	0.42214	-0.218000	0.12543	GGC		0.582	PVR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323017.2		NM_006505		88	71	0	0	0	0.01441	0	88	71		
FOSB	2354	broad.mit.edu	37	19	45976195	45976195	+	Silent	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr19:45976195C>T	ENST00000353609.3	+	4	1534	c.942C>T	c.(940-942)ttC>ttT	p.F314F	FOSB_ENST00000586615.1_Silent_p.F265F|FOSB_ENST00000443841.2_Silent_p.F171F|FOSB_ENST00000417353.2_Silent_p.F278F|FOSB_ENST00000592811.1_3'UTR|FOSB_ENST00000585836.1_Silent_p.F239F|ERCC1_ENST00000423698.2_Intron|FOSB_ENST00000592436.1_3'UTR|FOSB_ENST00000591858.1_Silent_p.F275F	NM_006732.2	NP_006723.2	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	314					cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		TCTCCGCGTTCGCCGGCGCCC	0.577																																						uc002pbx.3		NaN																	0				ovary(2)|lung(1)	3						c.(940-942)TTC>TTT		FBJ murine osteosarcoma viral oncogene homolog B							93.0	89.0	90.0					19																	45976195		2203	4300	6503	SO:0001819	synonymous_variant	2354				behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr19:45976195C>T		CCDS12664.1, CCDS46113.1	19q13.3	2013-01-10						"""basic leucine zipper proteins"""	3797	protein-coding gene	gene with protein product	"""oncogene FOS-B"", ""activator protein 1"""	164772				1301997	Standard	NM_006732		Approved	G0S3, GOSB, GOS3, AP-1, MGC42291, DKFZp686C0818	uc002pbx.4	P53539		ENST00000353609.3:c.942C>T	19.37:g.45976195C>T						ERCC1_uc002pbu.1_Intron|FOSB_uc010eke.2_Silent_p.F239F|FOSB_uc002pby.3_Silent_p.F278F|FOSB_uc010eka.1_3'UTR|FOSB_uc010ekb.1_3'UTR|FOSB_uc010ekc.1_3'UTR|FOSB_uc010ekf.2_Silent_p.F275F|FOSB_uc010ekd.1_3'UTR|FOSB_uc010ekg.2_Silent_p.F171F|FOSB_uc002pca.3_Silent_p.F265F	p.F314F	NM_006732	NP_006723	P53539	FOSB_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)	4	1534	+		Ovarian(192;0.051)|all_neural(266;0.112)	314					A8K9K5|A8VJE1|A8VJE6|A8VJF0|A8VJF3|A8VJF7|A8VJG1|A8VJG5|A8VJG9|E7EPR6|E9PHJ3|K7EMJ6|Q49AD7	Silent	SNP	ENST00000353609.3	37	c.942C>T	CCDS12664.1																																																																																				0.577	FOSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459561.1		NM_006732		22	66	0	0	0	0.012319	0	22	66		
SLC8A2	6543	broad.mit.edu	37	19	47969393	47969393	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr19:47969393C>T	ENST00000236877.6	-	2	663	c.268G>A	c.(268-270)Gcc>Acc	p.A90T	SLC8A2_ENST00000539381.1_Intron|SLC8A2_ENST00000542837.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	90					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		AAACGGTCGGCGATGATGGAC	0.597																																						uc002pgx.2		NaN																	0				skin(3)|ovary(1)	4						c.(268-270)GCC>ACC		solute carrier family 8 member 2 precursor							119.0	82.0	94.0					19																	47969393		2203	4300	6503	SO:0001583	missense	6543				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr19:47969393C>T	AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"""Solute carriers"""	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.268G>A	19.37:g.47969393C>T	ENSP00000236877:p.Ala90Thr					SLC8A2_uc010xyq.1_Intron|SLC8A2_uc010xyr.1_Intron|SLC8A2_uc010ele.2_Missense_Mutation_p.A90T	p.A90T	NM_015063	NP_055878	Q9UPR5	NAC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)	2	546	-		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)	90			Helical; (Potential).		B4DYQ9	Missense_Mutation	SNP	ENST00000236877.6	37	c.268G>A	CCDS33065.1	.	.	.	.	.	.	.	.	.	.	C	31	5.088019	0.94100	.	.	ENSG00000118160	ENST00000236877	T	0.72615	-0.67	4.25	4.25	0.50352	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.82770	0.5109	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85452	0.1161	10	0.87932	D	0	.	15.6004	0.76620	0.0:1.0:0.0:0.0	.	90	Q9UPR5	NAC2_HUMAN	T	90	ENSP00000236877:A90T	ENSP00000236877:A90T	A	-	1	0	SLC8A2	52661205	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.597000	0.82733	2.210000	0.71456	0.462000	0.41574	GCC		0.597	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1				20	41	0	0	0	0.010504	0	20	41		
FUZ	80199	broad.mit.edu	37	19	50310577	50310577	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr19:50310577C>G	ENST00000313777.4	-	11	1251	c.1088G>C	c.(1087-1089)aGa>aCa	p.R363T	FUZ_ENST00000445575.2_Missense_Mutation_p.R363T|FUZ_ENST00000528094.1_Missense_Mutation_p.R327T|FUZ_ENST00000533418.1_Missense_Mutation_p.R313T|AC006942.4_ENST00000600669.1_RNA	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	363	Leu-rich.				cilium assembly (GO:0042384)|embryonic body morphogenesis (GO:0010172)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of planar polarity (GO:0001736)|hair follicle development (GO:0001942)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)|negative regulation of neural crest formation (GO:0090301)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|positive regulation of cilium assembly (GO:0045724)|protein transport (GO:0015031)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		GTAGCAAGCTCTGGGCAGCTG	0.607																																						uc002ppq.1		NaN																	0					0						c.(1087-1089)AGA>ACA		fuzzy homolog							55.0	49.0	51.0					19																	50310577		2203	4300	6503	SO:0001583	missense	80199				cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton		g.chr19:50310577C>G	BC016793	CCDS12781.1, CCDS54293.1	19q13.33	2013-03-05	2013-03-05			ENSG00000010361			26219	protein-coding gene	gene with protein product		610622	"""fuzzy homolog (Drosophila)"""			21761479	Standard	NM_001171937		Approved	FLJ22688, Fy	uc002ppq.2	Q9BT04		ENST00000313777.4:c.1088G>C	19.37:g.50310577C>G	ENSP00000313309:p.Arg363Thr					FUZ_uc002ppr.1_Missense_Mutation_p.R263T|FUZ_uc002pps.1_RNA|FUZ_uc002ppt.1_RNA|FUZ_uc002ppu.1_Missense_Mutation_p.R327T|FUZ_uc002ppv.1_Missense_Mutation_p.R313T	p.R363T	NM_025129	NP_079405	Q9BT04	FUZZY_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)	11	1193	-		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	363			Leu-rich.		B2RD86|B5MDH0|Q6PJY0|Q9H613	Missense_Mutation	SNP	ENST00000313777.4	37	c.1088G>C	CCDS12781.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.344351	0.41498	.	.	ENSG00000010361	ENST00000528094;ENST00000533418;ENST00000529634;ENST00000313777;ENST00000377092;ENST00000445575	T;T;T;T	0.21191	2.02;2.02;2.02;2.02	4.35	4.35	0.52113	.	0.247097	0.34932	N	0.003562	T	0.25457	0.0619	L	0.45581	1.43	0.24162	N	0.995654	D;P	0.56035	0.974;0.955	P;P	0.50659	0.647;0.525	T	0.08764	-1.0706	10	0.21540	T	0.41	-16.717	12.2371	0.54522	0.0:1.0:0.0:0.0	.	327;363	Q9BT04-3;Q9BT04	.;FUZZY_HUMAN	T	327;313;363;363;263;363	ENSP00000435177:R327T;ENSP00000431731:R313T;ENSP00000313309:R363T;ENSP00000408018:R363T	ENSP00000313309:R363T	R	-	2	0	FUZ	55002389	0.911000	0.30947	0.699000	0.30290	0.639000	0.38242	2.201000	0.42734	2.276000	0.75962	0.462000	0.41574	AGA		0.607	FUZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393986.1		NM_025129		5	25	0	0	0	0.014758	0	5	25		
ETFB	2109	broad.mit.edu	37	19	51857428	51857428	+	Silent	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr19:51857428G>A	ENST00000309244.4	-	2	283	c.192C>T	c.(190-192)gtC>gtT	p.V64V	ETFB_ENST00000354232.4_Silent_p.V155V|CTD-2616J11.9_ENST00000600974.1_RNA|CTD-2616J11.11_ENST00000600067.1_3'UTR	NM_001985.2	NP_001976.1	P38117	ETFB_HUMAN	electron-transfer-flavoprotein, beta polypeptide	64					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)			kidney(2)|large_intestine(1)|lung(3)	6		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)		GCCCACAGCTGACGGCGATGA	0.627																																						uc002pwh.2		NaN																	0					0						c.(190-192)GTC>GTT		electron-transfer-flavoprotein, beta polypeptide							58.0	45.0	49.0					19																	51857428		2203	4300	6503	SO:0001819	synonymous_variant	2109				respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity	g.chr19:51857428G>A	X71129	CCDS12828.1, CCDS33085.1	19q13.3-q13.4	2008-02-05				ENSG00000105379			3482	protein-coding gene	gene with protein product		130410					Standard	NM_001014763		Approved		uc002pwg.3	P38117		ENST00000309244.4:c.192C>T	19.37:g.51857428G>A						ETFB_uc002pwg.2_Silent_p.V155V	p.V64V	NM_001985	NP_001976	P38117	ETFB_HUMAN		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)	2	284	-		all_neural(266;0.0199)	64					A8K766|B3KNY2|Q6IBH7|Q71RF6|Q9Y3S7	Silent	SNP	ENST00000309244.4	37	c.192C>T	CCDS12828.1																																																																																				0.627	ETFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464273.1				11	26	0	0	0	0.008291	0	11	26		
SIGLEC8	27181	broad.mit.edu	37	19	51957546	51957546	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr19:51957546G>A	ENST00000321424.3	-	6	1238	c.1172C>T	c.(1171-1173)tCg>tTg	p.S391L	SIGLEC8_ENST00000340550.5_Missense_Mutation_p.S298L|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.S282L|SIGLEC8_ENST00000597352.1_5'Flank	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	391					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGGCCTTGCCGATTTCTTCCT	0.597																																						uc002pwt.2		NaN																	0				ovary(2)|kidney(1)|central_nervous_system(1)|skin(1)	5						c.(1171-1173)TCG>TTG		sialic acid binding Ig-like lectin 8 precursor							102.0	95.0	98.0					19																	51957546		2203	4300	6503	SO:0001583	missense	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51957546G>A	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.1172C>T	19.37:g.51957546G>A	ENSP00000321077:p.Ser391Leu					SIGLEC8_uc010yda.1_Missense_Mutation_p.S282L|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Missense_Mutation_p.S298L	p.S391L	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	6	1239	-		all_neural(266;0.0199)	391			Cytoplasmic (Potential).		Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	c.1172C>T	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	12.55	1.970335	0.34754	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.62941	1.35;-0.01;1.1	1.91	0.861	0.19048	.	.	.	.	.	T	0.58892	0.2154	L	0.53249	1.67	0.09310	N	1	P;D;D	0.67145	0.552;0.996;0.974	B;P;B	0.50617	0.067;0.646;0.184	T	0.48433	-0.9036	9	0.40728	T	0.16	.	4.1592	0.10275	0.2124:0.0:0.7876:0.0	.	282;298;391	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	L	282;391;298	ENSP00000389142:S282L;ENSP00000321077:S391L;ENSP00000339448:S298L	ENSP00000321077:S391L	S	-	2	0	SIGLEC8	56649358	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.075000	0.14686	0.366000	0.24427	0.502000	0.49764	TCG		0.597	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2		NM_014442		19	68	0	0	0	0.010504	0	19	68		
ZNF83	55769	broad.mit.edu	37	19	53116563	53116563	+	Missense_Mutation	SNP	G	G	A	rs563662573		TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr19:53116563G>A	ENST00000597597.1	-	2	3508	c.1255C>T	c.(1255-1257)Cat>Tat	p.H419Y	ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000541777.2_Missense_Mutation_p.H419Y|ZNF83_ENST00000536937.1_Missense_Mutation_p.H419Y|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000545872.1_Missense_Mutation_p.H419Y|ZNF83_ENST00000391789.4_Missense_Mutation_p.H391Y|ZNF83_ENST00000544146.1_Missense_Mutation_p.H419Y|ZNF83_ENST00000301096.3_Missense_Mutation_p.H419Y			P51522	ZNF83_HUMAN	zinc finger protein 83	419					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		ATTCTCCAATGATATGCAAGG	0.373													G|||	1	0.000199681	0.0	0.0	5008	,	,		21212	0.0		0.0	False		,,,				2504	0.001					uc002pzu.3		NaN																	0				ovary(1)	1						c.(1255-1257)CAT>TAT		zinc finger protein 83 isoform a							85.0	87.0	86.0					19																	53116563		2203	4300	6503	SO:0001583	missense	55769					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:53116563G>A	M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"""Zinc fingers, C2H2-type"""	13158	protein-coding gene	gene with protein product		194558	"""zinc finger protein 83 (HPF1)"", ""zinc finger protein 816B"""	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.1255C>T	19.37:g.53116563G>A	ENSP00000472619:p.His419Tyr					ZNF83_uc002pzv.3_Missense_Mutation_p.H419Y|ZNF83_uc010eps.2_Missense_Mutation_p.H391Y|ZNF83_uc010ept.2_Missense_Mutation_p.H419Y|ZNF83_uc010epu.2_Missense_Mutation_p.H419Y|ZNF83_uc010epv.2_Missense_Mutation_p.H419Y|ZNF83_uc010epw.2_Missense_Mutation_p.H419Y|ZNF83_uc010epx.2_Missense_Mutation_p.H391Y|ZNF83_uc010epy.2_Missense_Mutation_p.H419Y|ZNF83_uc010epz.2_Missense_Mutation_p.H391Y	p.H419Y	NM_018300	NP_060770	P51522	ZNF83_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)	2	2499	-			419			C2H2-type 12.		A8MT75|Q3ZCX0|Q6PI08	Missense_Mutation	SNP	ENST00000597597.1	37	c.1255C>T	CCDS12854.1	.	.	.	.	.	.	.	.	.	.	-	14.19	2.462459	0.43736	.	.	ENSG00000167766	ENST00000536937;ENST00000301096;ENST00000544146;ENST00000434535;ENST00000545872;ENST00000541777;ENST00000391789	D;D;D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17;-2.17;-2.17	2.2	1.06	0.20224	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94758	0.8308	H	0.96430	3.82	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.982;0.997	D	0.86272	0.1662	9	0.87932	D	0	.	9.4318	0.38615	0.0:0.2215:0.7785:0.0	.	391;419	P51522-2;P51522	.;ZNF83_HUMAN	Y	419;419;419;391;419;419;391	ENSP00000445993:H419Y;ENSP00000301096:H419Y;ENSP00000445470:H419Y;ENSP00000440713:H419Y;ENSP00000439681:H419Y;ENSP00000375666:H391Y	ENSP00000301096:H419Y	H	-	1	0	ZNF83	57808375	1.000000	0.71417	0.000000	0.03702	0.007000	0.05969	5.830000	0.69324	0.215000	0.20761	0.411000	0.27672	CAT		0.373	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1		NM_018300		28	100	0	0	0	0.00632	0	28	100		
ZNF665	79788	broad.mit.edu	37	19	53678789	53678789	+	Intron	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr19:53678789G>A	ENST00000600412.1	-	2	63				ZNF665_ENST00000396424.3_Silent_p.F17F			Q9H7R5	ZN665_HUMAN	zinc finger protein 665						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		CCTCCTGAGAGAATTCTATGG	0.438																																						uc010eqm.1		NaN																	0				ovary(2)	2						c.(49-51)TTC>TTT		zinc finger protein 665							122.0	125.0	124.0					19																	53678789		2203	4300	6503	SO:0001627	intron_variant	79788				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53678789G>A		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.53-9189C>T	19.37:g.53678789G>A							p.F17F	NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN		GBM - Glioblastoma multiforme(134;0.0196)	3	151	-			Error:Variant_position_missing_in_Q9H7R5_after_alignment					A8K5T8	Silent	SNP	ENST00000600412.1	37	c.51C>T																																																																																					0.438	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1		NM_024733		26	100	0	0	0	0.027356	0	26	100		
TMC4	147798	broad.mit.edu	37	19	54666454	54666454	+	Missense_Mutation	SNP	T	T	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr19:54666454T>A	ENST00000376591.4	-	10	1603	c.1472A>T	c.(1471-1473)gAt>gTt	p.D491V	TMC4_ENST00000416963.1_Missense_Mutation_p.D73V|TMC4_ENST00000476013.2_5'Flank|TMC4_ENST00000301187.4_Missense_Mutation_p.D485V|LENG1_ENST00000222224.3_5'Flank	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	491					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					AGTCAGCAGATCAAAGAGCAG	0.567																																						uc010erf.2		NaN																	0				pancreas(1)	1						c.(1471-1473)GAT>GTT		transmembrane channel-like 4 isoform 1							49.0	53.0	52.0					19																	54666454		2203	4300	6503	SO:0001583	missense	147798					integral to membrane		g.chr19:54666454T>A	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.1472A>T	19.37:g.54666454T>A	ENSP00000365776:p.Asp491Val					TMC4_uc002qdn.2_Missense_Mutation_p.D205V|TMC4_uc002qdo.2_Missense_Mutation_p.D485V	p.D491V	NM_001145303	NP_001138775	Q7Z404	TMC4_HUMAN			10	1604	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		491			Helical; (Potential).		Q7Z5M3|Q8N5E4|Q8TBS7	Missense_Mutation	SNP	ENST00000376591.4	37	c.1472A>T	CCDS46174.1	.	.	.	.	.	.	.	.	.	.	T	19.81	3.897107	0.72639	.	.	ENSG00000167608	ENST00000301187;ENST00000416963;ENST00000376591	T;T;T	0.73363	-0.74;-0.74;-0.74	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	D	0.88720	0.6513	M	0.93106	3.38	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.997;0.998	D	0.91374	0.5122	10	0.87932	D	0	-19.3385	13.832	0.63386	0.0:0.0:0.0:1.0	.	491;485;73	Q7Z404;Q7Z404-1;Q7Z404-3	TMC4_HUMAN;.;.	V	485;73;491	ENSP00000301187:D485V;ENSP00000405023:D73V;ENSP00000365776:D491V	ENSP00000301187:D485V	D	-	2	0	TMC4	59358266	1.000000	0.71417	0.994000	0.49952	0.427000	0.31564	7.239000	0.78182	2.055000	0.61198	0.482000	0.46254	GAT		0.567	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2				11	9	0	0	0	0.010729	0	11	9		
USP29	57663	broad.mit.edu	37	19	57642078	57642078	+	Missense_Mutation	SNP	G	G	A	rs143453181		TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr19:57642078G>A	ENST00000254181.4	+	4	2489	c.2035G>A	c.(2035-2037)Gag>Aag	p.E679K	USP29_ENST00000598197.1_Missense_Mutation_p.E679K	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	679	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAGGCTTGTCGAGGTTCATCT	0.468																																						uc002qny.2		NaN																	0				lung(6)|ovary(2)|breast(2)|pancreas(1)	11						c.(2035-2037)GAG>AAG		ubiquitin specific peptidase 29		G	LYS/GLU	2,4404	4.2+/-10.8	0,2,2201	69.0	63.0	65.0		2035	-0.1	0.0	19	dbSNP_134	65	0,8600		0,0,4300	no	missense	USP29	NM_020903.2	56	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	679/923	57642078	2,13004	2203	4300	6503	SO:0001583	missense	57663				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57642078G>A		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.2035G>A	19.37:g.57642078G>A	ENSP00000254181:p.Glu679Lys						p.E679K	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	2391	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	679						Missense_Mutation	SNP	ENST00000254181.4	37	c.2035G>A	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.614595	0.28712	4.54E-4	0.0	ENSG00000131864	ENST00000254181	T	0.52526	0.66	2.24	-0.0595	0.13793	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	.	.	.	.	T	0.30916	0.0780	L	0.42245	1.32	0.09310	N	1	P	0.46912	0.886	B	0.35182	0.197	T	0.16660	-1.0395	9	0.51188	T	0.08	-5.7347	5.1825	0.15167	0.138:0.2127:0.6494:0.0	.	679	Q9HBJ7	UBP29_HUMAN	K	679	ENSP00000254181:E679K	ENSP00000254181:E679K	E	+	1	0	USP29	62333890	0.996000	0.38824	0.001000	0.08648	0.002000	0.02628	3.619000	0.54196	0.049000	0.15920	0.467000	0.42956	GAG		0.468	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1				9	50	0	0	0	0.006214	0	9	50		
ZSCAN1	284312	broad.mit.edu	37	19	58549427	58549427	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr19:58549427G>T	ENST00000282326.1	+	3	470	c.223G>T	c.(223-225)Gag>Tag	p.E75*	ZSCAN1_ENST00000601162.1_Nonsense_Mutation_p.E75*|ZSCAN1_ENST00000391700.1_Nonsense_Mutation_p.E75*	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	75	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GCGCTCCAAGGAGCAGATGCT	0.706																																						uc002qrc.1		NaN																	0				ovary(2)	2						c.(223-225)GAG>TAG		zinc finger and SCAN domain containing 1							16.0	17.0	17.0					19																	58549427		2192	4281	6473	SO:0001587	stop_gained	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58549427G>T	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.223G>T	19.37:g.58549427G>T	ENSP00000282326:p.Glu75*					ZSCAN1_uc002qra.1_Nonsense_Mutation_p.E75*|ZSCAN1_uc002qrb.1_Nonsense_Mutation_p.E75*	p.E75*	NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	3	470	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	75			SCAN box.		Q3B798|Q6WLH8|Q86WS8	Nonsense_Mutation	SNP	ENST00000282326.1	37	c.223G>T	CCDS12969.1	.	.	.	.	.	.	.	.	.	.	G	32	5.159609	0.94686	.	.	ENSG00000152467	ENST00000391700;ENST00000282326	.	.	.	2.09	0.814	0.18756	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.8004	0.18410	0.0:0.3406:0.6594:0.0	.	.	.	.	X	75	.	ENSP00000282326:E75X	E	+	1	0	ZSCAN1	63241239	1.000000	0.71417	0.995000	0.50966	0.899000	0.52679	3.112000	0.50368	1.170000	0.42753	0.407000	0.27541	GAG		0.706	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1		NM_182572		5	19	1	0	0.00116845	0.021553	0.00119008	5	19		
ZBTB45	84878	broad.mit.edu	37	19	59028629	59028629	+	Missense_Mutation	SNP	T	T	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr19:59028629T>G	ENST00000594051.1	-	2	892	c.412A>C	c.(412-414)Acc>Ccc	p.T138P	ZBTB45_ENST00000354590.3_Missense_Mutation_p.T138P|ZBTB45_ENST00000600990.1_Missense_Mutation_p.T138P			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	138	Pro-rich.				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(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		GGCACAGGGGTGGGCAGGGGC	0.716											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(164;1383 2017 5233 27540 46677)	uc002qtd.2		NaN																	0					0						c.(412-414)ACC>CCC		zinc finger and BTB domain containing 45							6.0	8.0	7.0					19																	59028629		1959	3897	5856	SO:0001583	missense	84878				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:59028629T>G	AK027392	CCDS12984.1	19q13.43	2013-10-10	2006-09-19	2006-09-19	ENSG00000119574	ENSG00000119574		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	23715	protein-coding gene	gene with protein product			"""zinc finger protein 499"""	ZNF499			Standard	NM_032792		Approved	FLJ14486	uc002qtd.3	Q96K62	OTTHUMG00000183545	ENST00000594051.1:c.412A>C	19.37:g.59028629T>G	ENSP00000469089:p.Thr138Pro		OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1035	ZBTB45_uc002qte.2_Missense_Mutation_p.T138P|ZBTB45_uc002qtf.2_Missense_Mutation_p.T138P	p.T138P	NM_032792	NP_116181	Q96K62	ZBT45_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)	2	704	-		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	138			Pro-rich.			Missense_Mutation	SNP	ENST00000594051.1	37	c.412A>C	CCDS12984.1	.	.	.	.	.	.	.	.	.	.	t	6.517	0.463623	0.12402	.	.	ENSG00000119574	ENST00000354590	T	0.08370	3.1	3.22	-5.2	0.02823	.	1.473040	0.04938	N	0.458102	T	0.03434	0.0099	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.40079	-0.9582	10	0.33940	T	0.23	.	2.1484	0.03794	0.1333:0.3881:0.1434:0.3352	.	138	Q96K62	ZBT45_HUMAN	P	138	ENSP00000346603:T138P	ENSP00000346603:T138P	T	-	1	0	ZBTB45	63720441	0.000000	0.05858	0.009000	0.14445	0.626000	0.37791	-0.372000	0.07504	-1.218000	0.02601	0.260000	0.18958	ACC		0.716	ZBTB45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467067.1		NM_032792		6	3	0	0	0	0.006214	0	6	3		
TRIM28	10155	broad.mit.edu	37	19	59057194	59057194	+	Silent	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr19:59057194C>T	ENST00000253024.5	+	3	806	c.517C>T	c.(517-519)Ctg>Ttg	p.L173L	RN7SL525P_ENST00000579267.1_RNA|TRIM28_ENST00000341753.6_Intron	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	173	RBCC domain.				convergent extension involved in axis elongation (GO:0060028)|DNA repair (GO:0006281)|embryonic placenta morphogenesis (GO:0060669)|epithelial to mesenchymal transition (GO:0001837)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|Krueppel-associated box domain binding (GO:0035851)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CTCGGAGCCTCTGTGTGAGAC	0.572																																						uc002qtg.1		NaN																	0				ovary(1)|lung(1)|breast(1)	3						c.(517-519)CTG>TTG		tripartite motif-containing 28 protein							79.0	75.0	76.0					19																	59057194		2203	4298	6501	SO:0001819	synonymous_variant	10155				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding	g.chr19:59057194C>T		CCDS12985.1	19q13.4	2014-06-13	2011-01-25			ENSG00000130726		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	16384	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 157"""	601742	"""tripartite motif-containing 28"""			11331580, 11226167	Standard	NM_005762		Approved	TIF1B, KAP1, TF1B, RNF96, PPP1R157	uc002qtg.1	Q13263		ENST00000253024.5:c.517C>T	19.37:g.59057194C>T						TRIM28_uc010eut.1_Intron|TRIM28_uc002qth.1_5'Flank	p.L173L	NM_005762	NP_005753	Q13263	TIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	3	806	+		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	173			RBCC domain.|B box-type 1; atypical.		O00677|Q7Z632|Q93040|Q96IM1	Silent	SNP	ENST00000253024.5	37	c.517C>T	CCDS12985.1																																																																																				0.572	TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467074.1		NM_005762		13	36	0	0	0	0.016723	0	13	36		
OTOF	9381	broad.mit.edu	37	2	26739408	26739408	+	Silent	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr2:26739408G>A	ENST00000272371.2	-	5	513	c.387C>T	c.(385-387)gaC>gaT	p.D129D	OTOF_ENST00000403946.3_Silent_p.D129D	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	129					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTCCCCATCGTCCCAGGAGC	0.647																																					GBM(102;732 1451 20652 24062 31372)	uc002rhk.2		NaN																	0				ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7						c.(385-387)GAC>GAT		otoferlin isoform a							75.0	72.0	73.0					2																	26739408		2203	4300	6503	SO:0001819	synonymous_variant	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26739408G>A	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.387C>T	2.37:g.26739408G>A						OTOF_uc010ylb.1_RNA	p.D129D	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN			5	514	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		129			Cytoplasmic (Potential).		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Silent	SNP	ENST00000272371.2	37	c.387C>T	CCDS1725.1																																																																																				0.647	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3				4	50	0	0	0	0.009096	0	4	50		
CCDC121	79635	broad.mit.edu	37	2	27850502	27850502	+	Silent	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr2:27850502C>T	ENST00000324364.3	-	2	345	c.165G>A	c.(163-165)gaG>gaA	p.E55E	GPN1_ENST00000610189.1_5'Flank|GPN1_ENST00000503738.1_5'Flank|GPN1_ENST00000458167.2_5'Flank|CCDC121_ENST00000394775.3_Silent_p.E217E|GPN1_ENST00000407583.3_5'Flank|ZNF512_ENST00000556601.1_Intron|GPN1_ENST00000424214.1_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|GPN1_ENST00000515877.1_5'Flank|GPN1_ENST00000264718.3_5'Flank	NM_024584.4	NP_078860.2	Q6ZUS5	CC121_HUMAN	coiled-coil domain containing 121	55										breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(172;0.155)					TCCATACCTTCTCAGGTTGCT	0.408																																						uc002rle.2		NaN																	0					0						c.(163-165)GAG>GAA		coiled-coil domain containing 121 isoform 3							169.0	167.0	167.0					2																	27850502		2203	4300	6503	SO:0001819	synonymous_variant	79635							g.chr2:27850502C>T	AK125354	CCDS1759.1, CCDS46247.1	2p23.2	2008-02-05			ENSG00000176714	ENSG00000176714			25833	protein-coding gene	gene with protein product							Standard	NM_024584		Approved	FLJ43364, FLJ13646	uc002rld.3	Q6ZUS5	OTTHUMG00000128427	ENST00000324364.3:c.165G>A	2.37:g.27850502C>T						ZNF512_uc010yly.1_Intron|CCDC121_uc010eze.2_Silent_p.E219E|CCDC121_uc002rld.2_Silent_p.E217E|GPN1_uc010ezf.2_5'Flank|GPN1_uc010yma.1_5'Flank|GPN1_uc010ymb.1_5'Flank|GPN1_uc010ymc.1_5'Flank|GPN1_uc010ymd.1_5'Flank|GPN1_uc010yme.1_5'Flank|GPN1_uc010ezg.1_5'Flank	p.E55E	NM_024584	NP_078860	Q6ZUS5	CC121_HUMAN			2	346	-	Acute lymphoblastic leukemia(172;0.155)		55					B3KW66|J3KQZ8|Q9H8G6	Silent	SNP	ENST00000324364.3	37	c.165G>A	CCDS1759.1																																																																																				0.408	CCDC121-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250215.1		NM_024584		64	110	0	0	0	0.01441	0	64	110		
PPP1CB	5500	broad.mit.edu	37	2	29001877	29001877	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr2:29001877C>G	ENST00000395366.2	+	3	659	c.387C>G	c.(385-387)atC>atG	p.I129M	PPP1CB_ENST00000358506.2_Missense_Mutation_p.I129M|PPP1CB_ENST00000296122.6_Missense_Mutation_p.I129M	NM_002709.2	NP_002700.1	P62140	PP1B_HUMAN	protein phosphatase 1, catalytic subunit, beta isozyme	129					cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|G2/M transition of mitotic cell cycle (GO:0000086)|glycogen metabolic process (GO:0005977)|mitotic cell cycle (GO:0000278)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of circadian rhythm (GO:0042752)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|glycogen granule (GO:0042587)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|myosin phosphatase activity (GO:0017018)|myosin-light-chain-phosphatase activity (GO:0050115)|phosphatase activity (GO:0016791)|protein kinase binding (GO:0019901)			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					GTGCTAGCATCAATCGCATTT	0.328																																						uc002rmg.2		NaN																	0				skin(1)	1						c.(385-387)ATC>ATG		protein phosphatase 1, catalytic subunit, beta							62.0	64.0	64.0					2																	29001877		2202	4300	6502	SO:0001583	missense	5500				cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process	MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding	g.chr2:29001877C>G		CCDS33169.1	2p23	2013-01-18	2010-03-05		ENSG00000213639	ENSG00000213639	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9282	protein-coding gene	gene with protein product		600590	"""protein phosphatase 1, catalytic subunit, beta isoform"""			8312365	Standard	NM_002709		Approved	PP1B, PP-1B, PP1beta	uc002rmg.3	P62140	OTTHUMG00000152011	ENST00000395366.2:c.387C>G	2.37:g.29001877C>G	ENSP00000378769:p.Ile129Met					PPP1CB_uc010ymj.1_Missense_Mutation_p.I101M|PPP1CB_uc010ymk.1_Missense_Mutation_p.I101M|PPP1CB_uc010yml.1_Missense_Mutation_p.I101M|PPP1CB_uc002rmh.2_Missense_Mutation_p.I129M	p.I129M	NM_206876	NP_996759	P62140	PP1B_HUMAN			4	547	+	Acute lymphoblastic leukemia(172;0.155)		129					B2R5V4|D6W565|P37140|Q5U087|Q6FG45	Missense_Mutation	SNP	ENST00000395366.2	37	c.387C>G	CCDS33169.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.718669	0.68844	.	.	ENSG00000213639	ENST00000455580;ENST00000441461;ENST00000358506;ENST00000296122;ENST00000395366;ENST00000418910	T;D;T;T;T;T	0.84944	3.37;-1.92;3.37;3.37;3.37;3.37	5.86	4.86	0.63082	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	D	0.89245	0.6660	L	0.60067	1.865	0.43540	D	0.995836	D;D	0.76494	0.999;0.998	D;D	0.77004	0.989;0.979	D	0.89167	0.3534	10	0.87932	D	0	-9.7101	8.3947	0.32550	0.0:0.7398:0.0:0.2602	.	101;129	B4E163;P62140	.;PP1B_HUMAN	M	101;129;129;129;129;4	ENSP00000390715:I101M;ENSP00000414918:I129M;ENSP00000351298:I129M;ENSP00000296122:I129M;ENSP00000378769:I129M;ENSP00000388056:I4M	ENSP00000296122:I129M	I	+	3	3	PPP1CB	28855381	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.131000	0.50515	1.364000	0.46038	0.650000	0.86243	ATC		0.328	PPP1CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324841.1				15	31	0	0	0	0.020292	0	15	31		
VIT	5212	broad.mit.edu	37	2	36994239	36994239	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr2:36994239G>T	ENST00000389975.3	+	7	792	c.490G>T	c.(490-492)Gag>Tag	p.E164*	VIT_ENST00000379241.3_Nonsense_Mutation_p.E164*|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000404084.1_Nonsense_Mutation_p.E142*|VIT_ENST00000379242.3_Nonsense_Mutation_p.E164*|VIT_ENST00000401530.1_Nonsense_Mutation_p.E164*	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	164					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				TCTTACAGGTGAGACCACAAA	0.448																																						uc002rpl.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(490-492)GAG>TAG		vitrin							54.0	54.0	54.0					2																	36994239		2203	4300	6503	SO:0001587	stop_gained	5212					proteinaceous extracellular matrix		g.chr2:36994239G>T	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.490G>T	2.37:g.36994239G>T	ENSP00000374625:p.Glu164*					VIT_uc010ynf.1_Intron|VIT_uc002rpm.2_Nonsense_Mutation_p.E157*|VIT_uc010ezv.2_Nonsense_Mutation_p.E157*|VIT_uc010ezw.2_Nonsense_Mutation_p.E157*	p.E164*	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN			7	711	+		all_hematologic(82;0.248)	164					A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Nonsense_Mutation	SNP	ENST00000389975.3	37	c.490G>T	CCDS54347.1	.	.	.	.	.	.	.	.	.	.	G	37	6.210943	0.97380	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000404084;ENST00000379241;ENST00000401530	.	.	.	5.42	5.42	0.78866	.	1.056260	0.07306	N	0.874908	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-15.4995	14.7495	0.69513	0.0:0.0:1.0:0.0	.	.	.	.	X	164;164;142;164;164	.	ENSP00000368543:E164X	E	+	1	0	VIT	36847743	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	4.122000	0.57910	2.542000	0.85734	0.650000	0.86243	GAG		0.448	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding					13	12	1	0	1.05317e-09	0.020292	1.11751e-09	13	12		
LHCGR	3973	broad.mit.edu	37	2	48915216	48915216	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr2:48915216G>A	ENST00000294954.7	-	11	1741	c.1720C>T	c.(1720-1722)Ctc>Ttc	p.L574F	LHCGR_ENST00000403273.1_3'UTR|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_3'UTR|LHCGR_ENST00000344775.3_Missense_Mutation_p.L512F|LHCGR_ENST00000405626.1_Missense_Mutation_p.L547F	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	574					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	GTGAAGATGAGGATTGCCATT	0.363																																						uc002rwu.3		NaN																	0				ovary(3)|lung(2)|breast(2)|skin(1)	8						c.(1720-1722)CTC>TTC		luteinizing hormone/choriogonadotropin receptor	Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)						111.0	110.0	110.0					2																	48915216		2203	4300	6503	SO:0001583	missense	3973	Familial_Male-Limited_Precocious_Puberty			male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	g.chr2:48915216G>A		CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"""GPCR / Class A : Gonadotropin and TSH receptors"""	6585	protein-coding gene	gene with protein product		152790	"""hypergonadotropic hypogonadism"""	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.1720C>T	2.37:g.48915216G>A	ENSP00000294954:p.Leu574Phe					GTF2A1L_uc002rwt.2_Intron	p.L574F	NM_000233	NP_000224	P22888	LSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		11	1790	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	574			Helical; Name=6; (Potential).		Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP	ENST00000294954.7	37	c.1720C>T	CCDS1842.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751114	0.69533	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626	T;T;T	0.39592	1.07;1.07;1.07	5.68	5.68	0.88126	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.77778	0.4181	H	0.97131	3.945	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85176	0.1001	9	.	.	.	.	18.7926	0.91980	0.0:0.0:1.0:0.0	.	574	P22888	LSHR_HUMAN	F	512;574;547	ENSP00000344301:L512F;ENSP00000294954:L574F;ENSP00000386033:L547F	.	L	-	1	0	LHCGR	48768720	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.717000	0.61923	2.694000	0.91930	0.585000	0.79938	CTC		0.363	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4		NM_000233.3		41	64	0	0	0	0.025465	0	41	64		
NRXN1	9378	broad.mit.edu	37	2	50724724	50724724	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr2:50724724C>A	ENST00000406316.2	-	14	4102	c.2626G>T	c.(2626-2628)Gga>Tga	p.G876*	NRXN1_ENST00000404971.1_Nonsense_Mutation_p.G916*|NRXN1_ENST00000405472.3_Nonsense_Mutation_p.G868*|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Nonsense_Mutation_p.G876*|NRXN1_ENST00000401710.1_5'Flank|NRXN1_ENST00000402717.3_Nonsense_Mutation_p.G868*|NRXN1_ENST00000401669.2_Nonsense_Mutation_p.G876*	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	876	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TATGCCATTCCATTAAATGTC	0.438																																						uc010fbq.2		NaN																	0				ovary(2)	2						c.(2746-2748)GGA>TGA		neurexin 1 isoform alpha2 precursor							102.0	92.0	95.0					2																	50724724		1958	4160	6118	SO:0001587	stop_gained	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50724724C>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.2626G>T	2.37:g.50724724C>A	ENSP00000384311:p.Gly876*					NRXN1_uc002rxb.3_Nonsense_Mutation_p.G548*|NRXN1_uc002rxe.3_Nonsense_Mutation_p.G876*|NRXN1_uc002rxc.1_RNA	p.G916*	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		14	4223	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	239			Extracellular (Potential).|Laminin G-like.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Nonsense_Mutation	SNP	ENST00000406316.2	37	c.2746G>T	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	48	14.888081	0.99814	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	20.434	0.99088	0.0:1.0:0.0:0.0	.	.	.	.	X	916;876;868;876;917;868;876	.	ENSP00000385017:G876X	G	-	1	0	NRXN1	50578228	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.838000	0.97847	0.561000	0.74099	GGA		0.438	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2				9	28	1	0	0.00448238	0.004482	0.00455134	9	28		
EFEMP1	2202	broad.mit.edu	37	2	56144869	56144869	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr2:56144869G>A	ENST00000394555.2	-	4	883	c.448C>T	c.(448-450)Ccc>Tcc	p.P150S	EFEMP1_ENST00000355426.3_Missense_Mutation_p.P150S|EFEMP1_ENST00000424836.2_Missense_Mutation_p.P92S|EFEMP1_ENST00000394554.1_Missense_Mutation_p.P150S	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	150					epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|negative regulation of chondrocyte differentiation (GO:0032331)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|epidermal growth factor-activated receptor activity (GO:0005006)			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GGGTTGGAGGGAATGCGCTGA	0.527																																					GBM(92;934 1319 7714 28760 40110)	uc002rzh.2		NaN																	0				ovary(4)|pancreas(1)|skin(1)	6						c.(448-450)CCC>TCC		EGF-containing fibulin-like extracellular matrix							87.0	86.0	86.0					2																	56144869		2203	4300	6503	SO:0001583	missense	2202				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity	g.chr2:56144869G>A	U03877	CCDS1857.1	2p16	2013-01-08	2011-01-25		ENSG00000115380	ENSG00000115380		"""Fibulins"""	3218	protein-coding gene	gene with protein product	"""fibulin 3"""	601548	"""fibrillin-like"", ""EGF-containing fibulin-like extracellular matrix protein 1"""	DHRD, FBNL		8812496, 7799918	Standard	NM_001039348		Approved	S1-5, FBLN3, MTLV	uc002rzi.3	Q12805	OTTHUMG00000129343	ENST00000394555.2:c.448C>T	2.37:g.56144869G>A	ENSP00000378058:p.Pro150Ser					EFEMP1_uc002rzi.2_Missense_Mutation_p.P150S|EFEMP1_uc002rzj.2_Missense_Mutation_p.P150S|EFEMP1_uc010ypc.1_Missense_Mutation_p.P92S	p.P150S	NM_004105	NP_004096	Q12805	FBLN3_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		4	778	-			150					A8K3I4|B4DW75|D6W5D2|Q541U7	Missense_Mutation	SNP	ENST00000394555.2	37	c.448C>T	CCDS1857.1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.262188	0.23051	.	.	ENSG00000115380	ENST00000394555;ENST00000394554;ENST00000424836;ENST00000355426;ENST00000438672	D;D;T;D;T	0.83419	-1.72;-1.72;-1.32;-1.72;-1.21	5.96	4.0	0.46444	.	0.186493	0.38272	N	0.001751	T	0.65626	0.2709	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.59386	-0.7464	10	0.66056	D	0.02	.	8.4692	0.32975	0.0669:0.1066:0.7052:0.1213	.	92;150	B4DW75;Q12805	.;FBLN3_HUMAN	S	150;150;92;150;150	ENSP00000378058:P150S;ENSP00000378057:P150S;ENSP00000399145:P92S;ENSP00000347596:P150S;ENSP00000392055:P150S	ENSP00000347596:P150S	P	-	1	0	EFEMP1	55998373	0.953000	0.32496	0.643000	0.29450	0.988000	0.76386	1.528000	0.35985	1.533000	0.49186	0.650000	0.86243	CCC		0.527	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251491.2				47	55	0	0	0	0.013114	0	47	55		
PLEK	5341	broad.mit.edu	37	2	68607462	68607462	+	Silent	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr2:68607462G>C	ENST00000234313.7	+	2	224	c.45G>C	c.(43-45)ggG>ggC	p.G15G		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	15	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cell projection organization (GO:0030030)|cortical actin cytoskeleton organization (GO:0030866)|hematopoietic progenitor cell differentiation (GO:0002244)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of inositol phosphate biosynthetic process (GO:0010920)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-inhibiting G-protein coupled receptor signaling pathway (GO:0030845)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of inositol-polyphosphate 5-phosphatase activity (GO:0010925)|positive regulation of integrin activation (GO:0033625)|positive regulation of platelet activation (GO:0010572)|protein kinase C signaling (GO:0070528)|protein secretion by platelet (GO:0070560)|regulation of cell diameter (GO:0060305)|ruffle organization (GO:0031529)|thrombin receptor signaling pathway (GO:0070493)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		CATTACAGGGGAGCGTGTTCA	0.398																																						uc002sen.3		NaN																	0				ovary(1)	1						c.(43-45)GGG>GGC		pleckstrin							62.0	59.0	60.0					2																	68607462		2203	4300	6503	SO:0001819	synonymous_variant	5341				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding	g.chr2:68607462G>C	X07743	CCDS1887.1	2p13.3	2013-01-10			ENSG00000115956	ENSG00000115956		"""Pleckstrin homology (PH) domain containing"""	9070	protein-coding gene	gene with protein product		173570				2897630, 12054651	Standard	NM_002664		Approved	P47	uc002sen.4	P08567	OTTHUMG00000129562	ENST00000234313.7:c.45G>C	2.37:g.68607462G>C						PLEK_uc010fde.2_Silent_p.G15G	p.G15G	NM_002664	NP_002655	P08567	PLEK_HUMAN		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)	2	207	+		Ovarian(717;0.0129)	15			PH 1.		B2R9E8|Q53SU8|Q6FGM8|Q6FGQ1|Q8WV81	Silent	SNP	ENST00000234313.7	37	c.45G>C	CCDS1887.1																																																																																				0.398	PLEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251755.1		NM_002664		9	25	0	0	0	0.004482	0	9	25		
ARHGAP25	9938	broad.mit.edu	37	2	69046289	69046289	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr2:69046289G>C	ENST00000295381.3	+	9	1454	c.1035G>C	c.(1033-1035)atG>atC	p.M345I	ARHGAP25_ENST00000409030.3_Missense_Mutation_p.M338I|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.M346I|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.M339I|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.M306I|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.M39I|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.M339I	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	345	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						TGACTATGATGATCAGAGACC	0.498																																						uc002seu.2		NaN																	0				ovary(2)|breast(2)	4						c.(1033-1035)ATG>ATC		Rho GTPase activating protein 25 isoform a							180.0	193.0	189.0					2																	69046289		2203	4300	6503	SO:0001583	missense	9938				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr2:69046289G>C	D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.1035G>C	2.37:g.69046289G>C	ENSP00000295381:p.Met345Ile					ARHGAP25_uc010fdg.2_Missense_Mutation_p.M346I|ARHGAP25_uc010yql.1_Missense_Mutation_p.M306I|ARHGAP25_uc002sev.2_Missense_Mutation_p.M339I|ARHGAP25_uc002sew.2_Missense_Mutation_p.M338I|ARHGAP25_uc002sex.2_Missense_Mutation_p.M339I|ARHGAP25_uc002sey.2_Missense_Mutation_p.M72I	p.M345I	NM_001007231	NP_001007232	P42331	RHG25_HUMAN			9	1399	+			345			Rho-GAP.		A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Missense_Mutation	SNP	ENST00000295381.3	37	c.1035G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.7|21.7	4.188006|4.188006	0.78789|0.78789	.|.	.|.	ENSG00000163219|ENSG00000163219	ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000497079;ENST00000543533;ENST00000479844|ENST00000497259	T;T;T;T;T;T;T|.	0.42131|.	0.98;2.82;2.82;0.98;2.82;2.82;2.0|.	4.97|4.97	4.97|4.97	0.65823|0.65823	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61627|.	0.2362|.	L|L	0.41356|0.41356	1.27|1.27	0.80722|0.80722	D|D	1|1	D;D;D;D;D;B|.	0.76494|.	0.988;0.999;0.999;0.999;0.982;0.125|.	P;D;D;D;D;B|.	0.81914|.	0.772;0.994;0.994;0.995;0.961;0.186|.	T|.	0.56312|.	-0.8000|.	10|.	0.23891|.	T|.	0.37|.	.|.	17.762|17.762	0.88467|0.88467	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	306;346;339;338;339;345|.	E9PFQ7;P42331-4;G5E9G2;P42331-3;P42331-2;P42331|.	.;.;.;.;.;RHG25_HUMAN|.	I|S	345;346;306;338;339;339;339;330;39|205	ENSP00000295381:M345I;ENSP00000386911:M346I;ENSP00000420583:M306I;ENSP00000386863:M338I;ENSP00000386241:M339I;ENSP00000417139:M339I;ENSP00000417467:M39I|.	ENSP00000295381:M345I|.	M|X	+|+	3|2	0|2	ARHGAP25|ARHGAP25	68899793|68899793	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	6.987000|6.987000	0.76206|0.76206	2.737000|2.737000	0.93849|0.93849	0.563000|0.563000	0.77884|0.77884	ATG|TGA		0.498	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_014882		54	95	0	0	0	0.01441	0	54	95		
SMPD4	55627	broad.mit.edu	37	2	130910919	130910919	+	Silent	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr2:130910919G>A	ENST00000409031.1	-	18	3263	c.2115C>T	c.(2113-2115)ctC>ctT	p.L705L	SMPD4_ENST00000351288.6_Silent_p.L676L|SMPD4_ENST00000431183.2_Silent_p.L603L|SMPD4_ENST00000473720.1_5'Flank|SMPD4_ENST00000339679.7_Silent_p.L563L|SMPD4_ENST00000443958.2_Silent_p.L369L|SMPD4_ENST00000453750.1_Silent_p.L454L|SMPD4_ENST00000426662.2_Silent_p.L341L|SMPD4_ENST00000452225.2_Silent_p.L446L	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	666					cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	GCGTAAGGATGAGTCCGTCCT	0.642																																						uc002tqq.1		NaN																	0					0						c.(2113-2115)CTC>CTT		sphingomyelin phosphodiesterase 4 isoform 2	Phosphatidylserine(DB00144)						73.0	65.0	68.0					2																	130910919		2203	4300	6503	SO:0001819	synonymous_variant	55627				sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity	g.chr2:130910919G>A	AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699			32949	protein-coding gene	gene with protein product		610457				16517606	Standard	NM_001171083		Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000409031.1:c.2115C>T	2.37:g.130910919G>A						SMPD4_uc002tqo.1_Silent_p.L237L|SMPD4_uc002tqp.1_Silent_p.L444L|SMPD4_uc010yzy.1_Silent_p.L454L|SMPD4_uc010yzz.1_Silent_p.L369L|SMPD4_uc002tqr.1_Silent_p.L676L|SMPD4_uc002tqs.1_Silent_p.L573L|SMPD4_uc002tqt.1_Silent_p.L554L|SMPD4_uc010zaa.1_Silent_p.L563L|SMPD4_uc010zab.1_Silent_p.L603L|SMPD4_uc010zac.1_Silent_p.L446L|SMPD4_uc010zad.1_Silent_p.L341L	p.L705L	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN			18	2635	-	Colorectal(110;0.1)		666					B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	Silent	SNP	ENST00000409031.1	37	c.2115C>T	CCDS42751.1	.	.	.	.	.	.	.	.	.	.	.	10.79	1.450755	0.26074	.	.	ENSG00000136699	ENST00000439886	.	.	.	4.09	-0.79	0.10932	.	.	.	.	.	T	0.55752	0.1940	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51911	-0.8645	4	.	.	.	.	9.6065	0.39637	0.0:0.5617:0.3094:0.1289	.	.	.	.	L	580	.	.	S	-	2	0	SMPD4	130627389	0.659000	0.27411	0.993000	0.49108	0.981000	0.71138	-0.298000	0.08265	0.142000	0.18901	0.549000	0.68633	TCA		0.642	SMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254516.3		NM_017751		13	28	0	0	0	0.013537	0	13	28		
RAB3GAP1	22930	broad.mit.edu	37	2	135911282	135911282	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr2:135911282G>A	ENST00000264158.8	+	19	2168	c.2125G>A	c.(2125-2127)Gaa>Aaa	p.E709K	RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.E665K|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.E709K|ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000487003.1_3'UTR	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	709					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		GGATTATATTGAAGAGGAGGT	0.438																																						uc002tuj.2		NaN																	0				ovary(1)|skin(1)	2						c.(2125-2127)GAA>AAA		RAB3 GTPase-activating protein							105.0	113.0	110.0					2																	135911282		2203	4300	6503	SO:0001583	missense	22930					centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding	g.chr2:135911282G>A	D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.2125G>A	2.37:g.135911282G>A	ENSP00000264158:p.Glu709Lys					RAB3GAP1_uc010fnf.2_Missense_Mutation_p.E709K|RAB3GAP1_uc010fng.2_Missense_Mutation_p.E534K|RAB3GAP1_uc010fnh.1_RNA	p.E709K	NM_012233	NP_036365	Q15042	RB3GP_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	19	2150	+			709					A6H8Z3|C9J837|Q659F5|Q8TBB4	Missense_Mutation	SNP	ENST00000264158.8	37	c.2125G>A	CCDS33294.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.412362	0.83340	.	.	ENSG00000115839	ENST00000264158;ENST00000539493;ENST00000442034	T;T;T	0.52754	0.65;0.65;0.65	5.39	4.5	0.54988	.	0.212430	0.47093	D	0.000248	T	0.53562	0.1804	M	0.73372	2.23	0.80722	D	1	P;P	0.41366	0.747;0.565	B;B	0.44163	0.443;0.156	T	0.55952	-0.8059	10	0.40728	T	0.16	-20.8323	15.4104	0.74914	0.0:0.0:0.8597:0.1403	.	709;709	C9J837;Q15042	.;RB3GP_HUMAN	K	709;665;709	ENSP00000264158:E709K;ENSP00000444306:E665K;ENSP00000411418:E709K	ENSP00000264158:E709K	E	+	1	0	RAB3GAP1	135627752	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.589000	0.82641	1.263000	0.44181	0.650000	0.86243	GAA		0.438	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2		NM_012233		22	48	0	0	0	0.012319	0	22	48		
ARL6IP6	151188	broad.mit.edu	37	2	153575496	153575496	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr2:153575496C>G	ENST00000326446.5	+	1	1069	c.358C>G	c.(358-360)Ctt>Gtt	p.L120V	PRPF40A_ENST00000410080.1_5'Flank|PRPF40A_ENST00000486100.1_5'Flank	NM_152522.5	NP_689735.1	Q8N6S5	AR6P6_HUMAN	ADP-ribosylation factor-like 6 interacting protein 6	120						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	5						CTTCGCCATTCTTCTCGCCTT	0.592																																						uc002tyn.2		NaN																	0					0						c.(358-360)CTT>GTT		ADP-ribosylation-like factor 6 interacting							84.0	81.0	82.0					2																	153575496		2197	4292	6489	SO:0001583	missense	151188					integral to membrane		g.chr2:153575496C>G	AK023109	CCDS2197.1	2q23	2014-05-12	2014-05-12		ENSG00000177917	ENSG00000177917			24048	protein-coding gene	gene with protein product							Standard	NM_152522		Approved	MGC33864	uc002tyn.3	Q8N6S5	OTTHUMG00000131901	ENST00000326446.5:c.358C>G	2.37:g.153575496C>G	ENSP00000315357:p.Leu120Val					ARL6IP6_uc002tym.2_Intron|ARL6IP6_uc002tyo.2_5'Flank|PRPF40A_uc002tyh.3_5'Flank|PRPF40A_uc010zcd.1_5'Flank|PRPF40A_uc002tyi.2_5'Flank|PRPF40A_uc002tyj.2_5'Flank|PRPF40A_uc002tyl.1_5'Flank	p.L120V	NM_152522	NP_689735	Q8N6S5	AR6P6_HUMAN			1	1074	+			120			Helical; (Potential).		B2RDS6|Q7Z4G7	Missense_Mutation	SNP	ENST00000326446.5	37	c.358C>G	CCDS2197.1	.	.	.	.	.	.	.	.	.	.	C	6.224	0.409380	0.11812	.	.	ENSG00000177917	ENST00000326446	.	.	.	4.71	3.81	0.43845	.	0.401890	0.23291	N	0.049782	T	0.41073	0.1143	M	0.63428	1.95	0.32708	N	0.511945	P	0.35348	0.496	B	0.34242	0.178	T	0.56444	-0.7978	9	0.62326	D	0.03	-10.1902	5.6788	0.17763	0.196:0.7061:0.0:0.0979	.	120	Q8N6S5	AR6P6_HUMAN	V	120	.	ENSP00000315357:L120V	L	+	1	0	ARL6IP6	153283742	0.843000	0.29541	0.066000	0.19879	0.059000	0.15707	1.142000	0.31540	1.165000	0.42670	0.655000	0.94253	CTT		0.592	ARL6IP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254852.3		NM_152522		15	41	0	0	0	0.00499	0	15	41		
GRB14	2888	broad.mit.edu	37	2	165404308	165404308	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr2:165404308C>T	ENST00000263915.3	-	3	881	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	GRB14_ENST00000543549.1_Missense_Mutation_p.E28K	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	115	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						GTTTCATCTTCACTGTATACT	0.338																																						uc002ucl.2		NaN																	0				ovary(5)|upper_aerodigestive_tract(1)|lung(1)	7						c.(343-345)GAA>AAA		growth factor receptor-bound protein 14							83.0	82.0	82.0					2																	165404308		2203	4300	6503	SO:0001583	missense	2888				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity	g.chr2:165404308C>T		CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.343G>A	2.37:g.165404308C>T	ENSP00000263915:p.Glu115Lys					GRB14_uc010zcv.1_Missense_Mutation_p.E28K|GRB14_uc002ucm.2_RNA	p.E115K	NM_004490	NP_004481	Q14449	GRB14_HUMAN			3	884	-			115			Ras-associating.		B7Z7F9|Q7Z6I1	Missense_Mutation	SNP	ENST00000263915.3	37	c.343G>A	CCDS2222.1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.916877	0.73098	.	.	ENSG00000115290	ENST00000263915;ENST00000543549;ENST00000446413;ENST00000424693	T;T;T;T	0.19250	2.16;2.16;2.16;2.16	5.1	5.1	0.69264	Ras-association (3);	0.050911	0.85682	N	0.000000	T	0.47948	0.1473	M	0.74389	2.26	0.80722	D	1	P;D	0.71674	0.792;0.998	B;D	0.66979	0.328;0.948	T	0.50110	-0.8866	10	0.66056	D	0.02	-16.7213	18.8853	0.92375	0.0:1.0:0.0:0.0	.	28;115	B7Z7F9;Q14449	.;GRB14_HUMAN	K	115;28;70;57	ENSP00000263915:E115K;ENSP00000443699:E28K;ENSP00000416786:E70K;ENSP00000401702:E57K	ENSP00000263915:E115K	E	-	1	0	GRB14	165112554	1.000000	0.71417	1.000000	0.80357	0.183000	0.23260	7.656000	0.83736	2.527000	0.85204	0.655000	0.94253	GAA		0.338	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2				9	24	0	0	0	0.004482	0	9	24		
RAPGEF4	11069	broad.mit.edu	37	2	173891911	173891911	+	Missense_Mutation	SNP	G	G	A	rs575529555		TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr2:173891911G>A	ENST00000397081.3	+	25	2625	c.2482G>A	c.(2482-2484)Gtc>Atc	p.V828I	RAPGEF4_ENST00000409036.1_Missense_Mutation_p.V828I|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.V608I|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.V675I|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.V657I|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.V684I|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.V675I|RAPGEF4_ENST00000264111.6_Missense_Mutation_p.V827I	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	828	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			GTTTTGGGTCGTCACTGAGAT	0.368																																						uc002uhv.3		NaN																	0				large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	6						c.(2482-2484)GTC>ATC		Rap guanine nucleotide exchange factor (GEF) 4							82.0	80.0	80.0					2																	173891911		1811	4082	5893	SO:0001583	missense	11069				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity	g.chr2:173891911G>A	U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"""cAMP-regulated guanine nucleotide exchange factor II"", "" exchange protein directly activated by cAMP 2"""	606058	"""RAP guanine-nucleotide-exchange factor (GEF) 4"""			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.2482G>A	2.37:g.173891911G>A	ENSP00000380271:p.Val828Ile					RAPGEF4_uc002uhw.3_Missense_Mutation_p.V684I	p.V828I	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.194)		25	2669	+			828			Ras-GEF.		B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP	ENST00000397081.3	37	c.2482G>A	CCDS42775.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.335886	0.41398	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000535187;ENST00000397085	T;T;T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56	5.65	4.77	0.60923	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.112127	0.64402	N	0.000011	T	0.23171	0.0560	L	0.28014	0.82	0.58432	D	0.999992	B;B	0.23316	0.083;0.052	B;B	0.20767	0.028;0.031	T	0.02805	-1.1108	10	0.28530	T	0.3	.	14.8715	0.70462	0.0695:0.0:0.9305:0.0	.	684;828	Q8WZA2-3;Q8WZA2	.;RPGF4_HUMAN	I	827;828;828;684;657;675;675;608;59	ENSP00000264111:V827I;ENSP00000380271:V828I;ENSP00000387104:V828I;ENSP00000380276:V684I;ENSP00000440135:V657I;ENSP00000440250:V675I;ENSP00000437384:V675I;ENSP00000438011:V608I;ENSP00000380274:V59I	ENSP00000264111:V827I	V	+	1	0	RAPGEF4	173600157	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.168000	0.71908	1.369000	0.46134	0.655000	0.94253	GTC		0.368	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2		NM_007023		18	37	0	0	0	0.006122	0	18	37		
TTN	7273	broad.mit.edu	37	2	179455032	179455032	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr2:179455032G>A	ENST00000591111.1	-	254	56721	c.56497C>T	c.(56497-56499)Cca>Tca	p.P18833S	TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P17906S|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P11601S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P11534S|TTN_ENST00000460472.2_Missense_Mutation_p.P11409S|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P20474S			Q8WZ42	TITIN_HUMAN	titin	18833	Ig-like 107.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTACTTCTGGAGGATGAAGG	0.428																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(53716-53718)CCA>TCA		titin isoform N2-A							181.0	167.0	171.0					2																	179455032		1950	4156	6106	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179455032G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.56497C>T	2.37:g.179455032G>A	ENSP00000465570:p.Pro18833Ser					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P11601S|TTN_uc010zfi.1_Missense_Mutation_p.P11534S|TTN_uc010zfj.1_Missense_Mutation_p.P11409S	p.P17906S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		253	53940	-			18833					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.53716C>T		.	.	.	.	.	.	.	.	.	.	G	13.30	2.196120	0.38806	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	6.11	6.11	0.99139	Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.83464	0.5260	M	0.87456	2.885	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	D	0.84614	0.0680	9	0.87932	D	0	.	20.7342	0.99715	0.0:0.0:1.0:0.0	.	11409;11534;11601;18833	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	17906;11409;11601;11534;11407	ENSP00000343764:P17906S;ENSP00000434586:P11409S;ENSP00000340554:P11601S;ENSP00000352154:P11534S	ENSP00000340554:P11601S	P	-	1	0	TTN	179163278	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.807000	0.99171	2.906000	0.99361	0.655000	0.94253	CCA		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		29	62	0	0	0	0.00632	0	29	62		
NCKAP1	10787	broad.mit.edu	37	2	183800087	183800087	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr2:183800087C>G	ENST00000361354.4	-	25	3084	c.2712G>C	c.(2710-2712)ttG>ttC	p.L904F	NCKAP1_ENST00000360982.2_Missense_Mutation_p.L910F|NCKAP1_ENST00000478449.1_5'UTR	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	904					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TCATCCTCTTCAAGACACTGT	0.328																																						uc002upc.2		NaN																	0				ovary(2)	2						c.(2710-2712)TTG>TTC		NCK-associated protein 1 isoform 1							101.0	95.0	97.0					2																	183800087		2203	4298	6501	SO:0001583	missense	10787				apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	g.chr2:183800087C>G	AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.2712G>C	2.37:g.183800087C>G	ENSP00000355348:p.Leu904Phe					NCKAP1_uc002upb.2_Missense_Mutation_p.L910F	p.L904F	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		25	3114	-			904					O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	c.2712G>C	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.469562	0.84533	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.38401	1.14;1.14	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.55955	0.1953	M	0.79693	2.465	0.80722	D	1	D;P	0.53745	0.962;0.953	P;P	0.51701	0.677;0.548	T	0.62909	-0.6754	10	0.72032	D	0.01	-8.3257	19.2877	0.94085	0.0:1.0:0.0:0.0	.	904;910	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	F	904;910	ENSP00000355348:L904F;ENSP00000354251:L910F	ENSP00000354251:L910F	L	-	3	2	NCKAP1	183508332	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.194000	0.51005	2.638000	0.89438	0.585000	0.79938	TTG		0.328	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2		NM_205842		22	31	0	0	0	0.012319	0	22	31		
ZNF804A	91752	broad.mit.edu	37	2	185803013	185803013	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr2:185803013T>C	ENST00000302277.6	+	4	3484	c.2890T>C	c.(2890-2892)Tca>Cca	p.S964P		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	964							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CTTTAGACAGTCACAGCCTAA	0.393																																						uc002uph.2		NaN																	0				ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(2890-2892)TCA>CCA		zinc finger protein 804A							90.0	86.0	88.0					2																	185803013		2203	4300	6503	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185803013T>C	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2890T>C	2.37:g.185803013T>C	ENSP00000303252:p.Ser964Pro						p.S964P	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	3484	+			964					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.2890T>C	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	T	0.037	-1.302349	0.01353	.	.	ENSG00000170396	ENST00000302277	T	0.05447	3.44	5.41	-5.99	0.02213	.	1.084610	0.07180	N	0.853856	T	0.01800	0.0057	N	0.01267	-0.92	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.48163	-0.9059	10	0.25751	T	0.34	2.623	5.5199	0.16927	0.0888:0.4888:0.1794:0.243	.	964	Q7Z570	Z804A_HUMAN	P	964	ENSP00000303252:S964P	ENSP00000303252:S964P	S	+	1	0	ZNF804A	185511258	0.000000	0.05858	0.000000	0.03702	0.334000	0.28698	-1.536000	0.02208	-1.093000	0.03058	0.383000	0.25322	TCA		0.393	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1		NM_194250		26	65	0	0	0	0.021523	0	26	65		
PLCL1	5334	broad.mit.edu	37	2	198948687	198948687	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr2:198948687C>T	ENST00000428675.1	+	2	844	c.446C>T	c.(445-447)tCa>tTa	p.S149L	PLCL1_ENST00000437704.2_Missense_Mutation_p.S51L	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	149	Interaction with PPP1C.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TGGGAACCTTCAAAGAAAGAC	0.448																																						uc010fsp.2		NaN																	0				ovary(1)|skin(1)	2						c.(445-447)TCA>TTA		RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	Quinacrine(DB01103)						66.0	71.0	69.0					2																	198948687		2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198948687C>T	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.446C>T	2.37:g.198948687C>T	ENSP00000402861:p.Ser149Leu					PLCL1_uc002uuv.3_Missense_Mutation_p.S70L	p.S149L	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN			2	737	+			149			PH.|Interaction with PPP1C.		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.446C>T	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	C	33	5.250022	0.95305	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.67523	-0.27;-0.27	5.67	5.67	0.87782	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.64402	D	0.000002	D	0.85093	0.5618	M	0.90082	3.085	0.80722	D	1	D;D	0.69078	0.997;0.997	D;P	0.65140	0.932;0.902	D	0.86667	0.1908	9	.	.	.	.	20.1421	0.98061	0.0:1.0:0.0:0.0	.	149;75	Q15111;B4DYZ4	PLCL1_HUMAN;.	L	149;51	ENSP00000402861:S149L;ENSP00000414138:S51L	.	S	+	2	0	PLCL1	198656932	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	7.766000	0.85320	2.836000	0.97738	0.655000	0.94253	TCA		0.448	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1		NM_006226		19	40	0	0	0	0.008871	0	19	40		
FAM126B	285172	broad.mit.edu	37	2	201873710	201873710	+	Silent	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr2:201873710G>A	ENST00000418596.3	-	7	703	c.516C>T	c.(514-516)ttC>ttT	p.F172F	AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	172						intracellular (GO:0005622)				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						TCTGTGCAGTGAATGTTTCCC	0.378																																						uc002uws.3		NaN																	0				ovary(1)	1						c.(514-516)TTC>TTT		hypothetical protein LOC285172							124.0	110.0	115.0					2																	201873710		2203	4300	6503	SO:0001819	synonymous_variant	285172					intracellular		g.chr2:201873710G>A	BC039295	CCDS2335.1	2q33.1	2008-10-02			ENSG00000155744	ENSG00000155744			28593	protein-coding gene	gene with protein product						12477932	Standard	NM_173822		Approved	MGC39518, HYCC2	uc002uws.4	Q8IXS8	OTTHUMG00000132823	ENST00000418596.3:c.516C>T	2.37:g.201873710G>A						FAM126B_uc002uwu.2_Silent_p.F90F|FAM126B_uc002uwv.2_Silent_p.F172F|FAM126B_uc002uww.1_Silent_p.F172F	p.F172F	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN			7	704	-			172					B2RCG7|Q4ZG87|Q53TX6	Silent	SNP	ENST00000418596.3	37	c.516C>T	CCDS2335.1																																																																																				0.378	FAM126B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256285.3		NM_173822		14	29	0	0	0	0.020292	0	14	29		
PANK2	80025	broad.mit.edu	37	20	3888748	3888748	+	Silent	SNP	C	C	T	rs572915908		TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr20:3888748C>T	ENST00000316562.4	+	2	810	c.804C>T	c.(802-804)ctC>ctT	p.L268L	PANK2_ENST00000610179.1_Silent_p.L145L|PANK2_ENST00000497424.1_5'UTR	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	268					aerobic respiration (GO:0009060)|cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|mitochondrion morphogenesis (GO:0070584)|pantothenate metabolic process (GO:0015939)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						ACGTGCACCTCGAGCTGAAGG	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		19850	0.0		0.0	False		,,,				2504	0.001					uc002wkc.2		NaN																	0					0						c.(802-804)CTC>CTT		pantothenate kinase 2 isoform 1 preproprotein							147.0	121.0	130.0					20																	3888748		2203	4300	6503	SO:0001819	synonymous_variant	80025				cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding	g.chr20:3888748C>T	AK021791	CCDS13071.2, CCDS13072.1	20p13	2008-07-31	2008-07-31	2002-09-06	ENSG00000125779	ENSG00000125779	2.7.1.33		15894	protein-coding gene	gene with protein product	"""Hallervorden-Spatz syndrome"""	606157	"""neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz syndrome)"""	C20orf48, NBIA1		8944032, 11479594	Standard	XM_005260835		Approved	HSS, FLJ11729, PKAN, HARP	uc002wkc.3	Q9BZ23	OTTHUMG00000031768	ENST00000316562.4:c.804C>T	20.37:g.3888748C>T						PANK2_uc002wkb.2_5'UTR|PANK2_uc010gbd.1_RNA|PANK2_uc002wkd.2_RNA|PANK2_uc002wke.2_5'UTR|PANK2_uc002wkf.2_5'UTR	p.L268L	NM_153638	NP_705902	Q9BZ23	PANK2_HUMAN			2	810	+			268					B1AK33|B2Z3X0|D3DVZ0|Q5T7I2|Q5T7I4|Q7RTX5|Q8N7Q4|Q8TCR5|Q9BYW5|Q9HAF2	Silent	SNP	ENST00000316562.4	37	c.804C>T	CCDS13071.2																																																																																				0.478	PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077793.2		NM_024960		14	59	0	0	0	0.016723	0	14	59		
SLX4IP	128710	broad.mit.edu	37	20	10603663	10603663	+	Missense_Mutation	SNP	G	G	A	rs200004663		TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr20:10603663G>A	ENST00000334534.5	+	8	1043	c.863G>A	c.(862-864)cGa>cAa	p.R288Q		NM_001009608.1	NP_001009608.1	Q5VYV7	SLX4I_HUMAN	SLX4 interacting protein	288																	CAAAGTCCACGAGTGGCCAAA	0.527													G|||	1	0.000199681	0.0	0.0	5008	,	,		18283	0.0		0.001	False		,,,				2504	0.0					uc010zre.1		NaN																	0					0						c.(862-864)CGA>CAA		hypothetical protein LOC128710							77.0	86.0	83.0					20																	10603663		2203	4300	6503	SO:0001583	missense	128710						protein binding	g.chr20:10603663G>A	AL035456	CCDS33439.1	20p12	2012-10-30	2012-10-30	2012-10-30	ENSG00000149346	ENSG00000149346			16225	protein-coding gene	gene with protein product		615958	"""chromosome 20 open reading frame 94"""	C20orf94		19596235	Standard	XM_005260664		Approved	dJ1099D15.3	uc010zre.2	Q5VYV7	OTTHUMG00000031873	ENST00000334534.5:c.863G>A	20.37:g.10603663G>A	ENSP00000335557:p.Arg288Gln						p.R288Q	NM_001009608	NP_001009608	Q5VYV7	CT094_HUMAN			8	1043	+			288					Q05CG2|Q05CT9	Missense_Mutation	SNP	ENST00000334534.5	37	c.863G>A	CCDS33439.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	11.28	1.591983	0.28357	.	.	ENSG00000149346	ENST00000334534	T	0.55588	0.51	5.83	-5.34	0.02705	.	1.226100	0.05852	N	0.621377	T	0.32912	0.0845	N	0.12746	0.255	0.09310	N	1	B	0.25007	0.116	B	0.12837	0.008	T	0.15150	-1.0447	10	0.25751	T	0.34	1.631	16.0099	0.80396	0.6329:0.0:0.3671:0.0	.	288	Q5VYV7	CT094_HUMAN	Q	288	ENSP00000335557:R288Q	ENSP00000335557:R288Q	R	+	2	0	C20orf94	10551663	0.000000	0.05858	0.000000	0.03702	0.638000	0.38207	-0.369000	0.07533	-0.814000	0.04352	0.555000	0.69702	CGA		0.527	SLX4IP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078000.3		NM_001009608		22	46	0	0	0	0.016522	0	22	46		
TTC3	7267	broad.mit.edu	37	21	38510991	38510991	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr21:38510991C>G	ENST00000399017.2	+	19	4383	c.1636C>G	c.(1636-1638)Ctc>Gtc	p.L546V	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000540756.1_Missense_Mutation_p.L236V|TTC3_ENST00000355666.1_Missense_Mutation_p.L546V|TTC3_ENST00000354749.2_Missense_Mutation_p.L546V	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	546					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TGCCATTTCTCTCCTTGGAAT	0.308																																					Ovarian(38;194 1649 35661)	uc002yvz.2		NaN																	0				skin(3)|ovary(2)|lung(2)|breast(2)	9						c.(1636-1638)CTC>GTC		tetratricopeptide repeat domain 3							178.0	166.0	170.0					21																	38510991		2203	4300	6503	SO:0001583	missense	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38510991C>G	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.1636C>G	21.37:g.38510991C>G	ENSP00000381981:p.Leu546Val					TTC3_uc011aee.1_Missense_Mutation_p.L236V|TTC3_uc002ywa.2_Missense_Mutation_p.L546V|TTC3_uc002ywb.2_Missense_Mutation_p.L546V|TTC3_uc010gnf.2_Missense_Mutation_p.L311V|TTC3_uc002ywc.2_Missense_Mutation_p.L236V|TTC3_uc011aed.1_Missense_Mutation_p.L236V|TTC3_uc010gne.1_Missense_Mutation_p.L546V	p.L546V	NM_001001894	NP_001001894	P53804	TTC3_HUMAN			19	1741	+		Myeloproliferative disorder(46;0.0412)	546			TPR 3.		A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	c.1636C>G	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.297735	0.81025	.	.	ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000540756;ENST00000399017;ENST00000354749	T;T;T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31	5.22	5.22	0.72569	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.53938	D	0.000041	D	0.84964	0.5589	L	0.29908	0.895	0.46167	D	0.998902	D;D	0.76494	0.999;0.997	D;D	0.78314	0.987;0.991	D	0.86658	0.1902	10	0.72032	D	0.01	-12.7478	18.7169	0.91679	0.0:1.0:0.0:0.0	.	236;546	B4DSZ9;P53804	.;TTC3_HUMAN	V	546;546;528;546;236;546;546	ENSP00000403943:L546V;ENSP00000408456:L546V;ENSP00000391891:L528V;ENSP00000347889:L546V;ENSP00000442875:L236V;ENSP00000381981:L546V;ENSP00000346791:L546V	ENSP00000346791:L546V	L	+	1	0	TTC3	37432861	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	5.519000	0.67074	2.603000	0.88011	0.563000	0.77884	CTC		0.308	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1				31	64	0	0	0	0.012213	0	31	64		
UMODL1	89766	broad.mit.edu	37	21	43541202	43541202	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr21:43541202G>A	ENST00000408910.2	+	16	2695	c.2695G>A	c.(2695-2697)Gat>Aat	p.D899N	UMODL1_ENST00000400424.2_Missense_Mutation_p.D827N|UMODL1_ENST00000400427.1_Missense_Mutation_p.D955N|UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000408989.2_Missense_Mutation_p.D1027N	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	899	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.|SEA 2. {ECO:0000255|PROSITE- ProRule:PRU00188}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TGCAGATTACGATGAGTGTGA	0.537																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	uc002zaf.1		NaN																	0				ovary(2)|skin(1)	3						c.(2695-2697)GAT>AAT		uromodulin-like 1 isoform 1 precursor							115.0	120.0	118.0					21																	43541202		1962	4142	6104	SO:0001583	missense	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43541202G>A		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.2695G>A	21.37:g.43541202G>A	ENSP00000386147:p.Asp899Asn					UMODL1_uc002zad.1_Missense_Mutation_p.D827N|UMODL1_uc002zae.1_Missense_Mutation_p.D955N|UMODL1_uc002zag.1_Missense_Mutation_p.D1027N|UMODL1_uc002zal.1_5'UTR	p.D899N	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN			16	2695	+			899			Extracellular (Potential).|EGF-like 3; calcium-binding (Potential).		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	c.2695G>A	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	G	5.482	0.273895	0.10403	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	D;D;D;D	0.94280	-3.39;-3.39;-3.39;-3.39	5.01	1.15	0.20763	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.251106	0.26919	N	0.021831	T	0.80592	0.4652	N	0.11064	0.09	0.09310	N	1	P;B	0.41159	0.74;0.056	B;B	0.33568	0.166;0.015	T	0.73742	-0.3887	9	.	.	.	-16.4619	7.3477	0.26672	0.3813:0.0:0.6187:0.0	.	1027;899	Q5DID0-2;Q5DID0	.;UROL1_HUMAN	N	955;827;1027;899	ENSP00000383279:D955N;ENSP00000383276:D827N;ENSP00000386126:D1027N;ENSP00000386147:D899N	.	D	+	1	0	UMODL1	42414271	0.859000	0.29813	0.024000	0.17045	0.035000	0.12851	1.976000	0.40579	0.355000	0.24131	-0.142000	0.14014	GAT		0.537	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2				21	61	0	0	0	0.010504	0	21	61		
COL18A1	80781	broad.mit.edu	37	21	46888254	46888254	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr21:46888254G>A	ENST00000359759.4	+	2	1471	c.1450G>A	c.(1450-1452)Gtc>Atc	p.V484I	COL18A1_ENST00000355480.5_Missense_Mutation_p.V249I|COL18A1_ENST00000400337.2_Missense_Mutation_p.V69I			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	484	Laminin G-like.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GCTGGCCTACGTCTTTGGGCC	0.657																																						uc011afs.1		NaN																	0				central_nervous_system(1)	1						c.(1450-1452)GTC>ATC		alpha 1 type XVIII collagen isoform 3 precursor							67.0	76.0	73.0					21																	46888254		2017	4169	6186	SO:0001583	missense	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46888254G>A		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.1450G>A	21.37:g.46888254G>A	ENSP00000352798:p.Val484Ile					COL18A1_uc002zhg.2_Missense_Mutation_p.V69I|COL18A1_uc002zhi.2_Missense_Mutation_p.V249I	p.V484I	NM_130444	NP_569711	P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	2	1471	+			484			TSP N-terminal.		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	ENST00000359759.4	37	c.1450G>A		.	.	.	.	.	.	.	.	.	.	G	7.611	0.674893	0.14841	.	.	ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645	T;T;T	0.02121	4.44;4.44;4.44	4.79	1.93	0.25924	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.402585	0.24172	N	0.040892	T	0.02012	0.0063	L	0.34521	1.04	0.31862	N	0.620906	B;B;B	0.26081	0.141;0.116;0.054	B;B;B	0.23716	0.048;0.017;0.011	T	0.35599	-0.9782	10	0.21540	T	0.41	.	9.4629	0.38796	0.2401:0.0:0.7599:0.0	.	484;249;69	P39060;P39060-1;P39060-2	COIA1_HUMAN;.;.	I	69;69;249;484;484	ENSP00000383191:V69I;ENSP00000347665:V249I;ENSP00000352798:V484I	ENSP00000347665:V249I	V	+	1	0	COL18A1	45712682	0.981000	0.34729	0.228000	0.23943	0.003000	0.03518	1.256000	0.32921	0.175000	0.19841	-0.140000	0.14226	GTC		0.657	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1				32	53	0	0	0	0.013726	0	32	53		
ARVCF	421	broad.mit.edu	37	22	19960296	19960296	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr22:19960296C>T	ENST00000263207.3	-	16	2896	c.2605G>A	c.(2605-2607)Gat>Aat	p.D869N	ARVCF_ENST00000406259.1_Missense_Mutation_p.D863N|ARVCF_ENST00000401994.1_Missense_Mutation_p.D806N|ARVCF_ENST00000406522.1_Missense_Mutation_p.D800N|ARVCF_ENST00000344269.3_Missense_Mutation_p.D806N	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	869					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					GTGCTGTCATCGAAGCCCCCA	0.602																																						uc002zqz.2		NaN																	0				liver(1)	1						c.(2605-2607)GAT>AAT		armadillo repeat protein							74.0	65.0	68.0					22																	19960296		2203	4300	6503	SO:0001583	missense	421				cell adhesion|multicellular organismal development		protein binding	g.chr22:19960296C>T		CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"""Armadillo repeat containing"""	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.2605G>A	22.37:g.19960296C>T	ENSP00000263207:p.Asp869Asn					ARVCF_uc002zqy.2_Missense_Mutation_p.D385N	p.D869N	NM_001670	NP_001661	O00192	ARVC_HUMAN			16	2876	-	Colorectal(54;0.0993)		869					B7WNV2	Missense_Mutation	SNP	ENST00000263207.3	37	c.2605G>A	CCDS13771.1	.	.	.	.	.	.	.	.	.	.	C	35	5.585912	0.96578	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.73363	-0.72;-0.66;-0.66;-0.67;-0.74	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	D	0.85366	0.5680	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.986;0.998	D	0.85756	0.1346	9	.	.	.	-12.7539	16.5094	0.84280	0.0:1.0:0.0:0.0	.	869;385	O00192;E7EV58	ARVC_HUMAN;.	N	869;806;806;800;863	ENSP00000263207:D869N;ENSP00000342042:D806N;ENSP00000384341:D806N;ENSP00000384732:D800N;ENSP00000385444:D863N	.	D	-	1	0	ARVCF	18340296	0.998000	0.40836	0.996000	0.52242	0.955000	0.61496	4.350000	0.59392	2.502000	0.84385	0.561000	0.74099	GAT		0.602	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5		NM_001670		9	26	0	0	0	0.004482	0	9	26		
TRMT2A	27037	broad.mit.edu	37	22	20100722	20100722	+	Missense_Mutation	SNP	C	C	T	rs200994055		TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr22:20100722C>T	ENST00000252136.7	-	10	1856	c.1468G>A	c.(1468-1470)Gag>Aag	p.E490K	TRMT2A_ENST00000492988.1_5'UTR|TRMT2A_ENST00000403707.3_Missense_Mutation_p.E490K|AC006547.8_ENST00000412713.1_RNA|TRMT2A_ENST00000439169.2_Missense_Mutation_p.E508K|RANBP1_ENST00000430524.1_5'Flank|TRMT2A_ENST00000404751.3_Missense_Mutation_p.E490K	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	490					RNA processing (GO:0006396)		nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)			breast(2)|endometrium(2)|lung(5)	9						ACCAGGTCCTCGGCCCTCCCG	0.647																																						uc002zrk.1		NaN																	0				breast(1)	1						c.(1468-1470)GAG>AAG		HpaII tiny fragments locus 9C		C	LYS/GLU,LYS/GLU	0,4406		0,0,2203	47.0	46.0	46.0		1468,1468	4.5	0.9	22		46	1,8595	1.2+/-3.3	0,1,4297	yes	missense,missense	TRMT2A	NM_022727.4,NM_182984.3	56,56	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	490/626,490/626	20100722	1,13001	2203	4298	6501	SO:0001583	missense	27037				RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity	g.chr22:20100722C>T	BC017184	CCDS13774.1, CCDS58793.1	22q11.21	2014-02-12	2012-06-12		ENSG00000099899	ENSG00000099899			24974	protein-coding gene	gene with protein product	"""HpaII tiny fragments locus 9C"""	611151				9417108, 18075473	Standard	NM_022727		Approved	HTF9C	uc002zrl.2	Q8IZ69	OTTHUMG00000150454	ENST00000252136.7:c.1468G>A	22.37:g.20100722C>T	ENSP00000252136:p.Glu490Lys					TRMT2A_uc002zrl.1_Missense_Mutation_p.E490K|TRMT2A_uc002zrm.1_Missense_Mutation_p.E312K|TRMT2A_uc002zrn.1_Missense_Mutation_p.E508K	p.E490K	NM_182984	NP_892029	Q8IZ69	TRM2A_HUMAN			11	1683	-			490					D3DX25|Q32P57|Q96ME6|Q9H732	Missense_Mutation	SNP	ENST00000252136.7	37	c.1468G>A	CCDS13774.1	.	.	.	.	.	.	.	.	.	.	C	35	5.482226	0.96307	0.0	1.16E-4	ENSG00000099899	ENST00000252136;ENST00000403707;ENST00000444845;ENST00000404751;ENST00000439169	T;T;T;T	0.54866	0.55;0.55;1.79;1.79	5.53	4.52	0.55395	.	0.050592	0.85682	D	0.000000	T	0.68888	0.3050	M	0.71036	2.16	0.58432	D	0.999994	D;P;D	0.63880	0.993;0.891;0.993	D;P;P	0.65874	0.939;0.784;0.904	T	0.72959	-0.4133	10	0.87932	D	0	-31.6309	13.1059	0.59247	0.0:0.922:0.0:0.078	.	508;490;490	F2Z2W7;Q8IZ69-2;Q8IZ69	.;.;TRM2A_HUMAN	K	490;490;38;490;508	ENSP00000252136:E490K;ENSP00000385807:E490K;ENSP00000397744:E38K;ENSP00000395738:E508K	ENSP00000252136:E490K	E	-	1	0	TRMT2A	18480722	1.000000	0.71417	0.887000	0.34795	0.916000	0.54674	7.198000	0.77823	1.357000	0.45904	0.456000	0.33151	GAG		0.647	TRMT2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318168.3		NM_022727		19	21	0	0	0	0.007413	0	19	21		
RSPH14	27156	broad.mit.edu	37	22	23406202	23406202	+	Silent	SNP	G	G	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr22:23406202G>T	ENST00000216036.4	-	5	727	c.531C>A	c.(529-531)ctC>ctA	p.L177L		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		177										breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		CCTGCAGGCAGAGGACCAGTG	0.582																																						uc002zwt.2		NaN																	0				ovary(1)	1						c.(529-531)CTC>CTA		rhabdoid tumor deletion region protein 1							107.0	92.0	97.0					22																	23406202		2203	4300	6503	SO:0001819	synonymous_variant	27156						binding	g.chr22:23406202G>T																												ENST00000216036.4:c.531C>A	22.37:g.23406202G>T							p.L177L	NM_014433	NP_055248	Q9UHP6	RTDR1_HUMAN		READ - Rectum adenocarcinoma(21;0.175)	5	689	-	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		177						Silent	SNP	ENST00000216036.4	37	c.531C>A	CCDS13803.1																																																																																				0.582	RTDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319049.1				7	16	1	0	2.0095e-06	0.001984	2.09191e-06	7	16		
DNAL4	10126	broad.mit.edu	37	22	39178724	39178724	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr22:39178724C>G	ENST00000216068.4	-	2	257	c.13G>C	c.(13-15)Gaa>Caa	p.E5Q	DNAL4_ENST00000406199.3_Missense_Mutation_p.E5Q|DNAL4_ENST00000486019.1_Intron|SUN2_ENST00000406622.1_Intron	NM_005740.2	NP_005731.1	O96015	DNAL4_HUMAN	dynein, axonemal, light chain 4	5					microtubule-based process (GO:0007017)|neurotrophin TRK receptor signaling pathway (GO:0048011)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	motor activity (GO:0003774)			lung(1)|skin(1)	2	Melanoma(58;0.04)					TTCTTCCCTTCTGTTTCTCCC	0.572																																						uc003awj.2		NaN																	0					0						c.(13-15)GAA>CAA		dynein light chain 4, axonemal							223.0	166.0	186.0					22																	39178724		2203	4300	6503	SO:0001583	missense	10126				microtubule-based movement|nerve growth factor receptor signaling pathway	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|plasma membrane	ATPase activity, coupled|microtubule motor activity	g.chr22:39178724C>G	AL035366	CCDS13979.1	22q13.1	2008-06-10	2006-09-04		ENSG00000100246	ENSG00000100246		"""Axonemal dyneins"""	2955	protein-coding gene	gene with protein product		610565	"""dynein, axonemal, light polypeptide 4"", ""dynein, axonemal, light 4"""			10591208	Standard	NM_005740		Approved	dJ327J16, PIG27	uc003awj.3	O96015	OTTHUMG00000151025	ENST00000216068.4:c.13G>C	22.37:g.39178724C>G	ENSP00000216068:p.Glu5Gln					SUN2_uc010gxr.1_Intron	p.E5Q	NM_005740	NP_005731	O96015	DNAL4_HUMAN			2	241	-	Melanoma(58;0.04)		5					Q6FGB2|Q6FGD0	Missense_Mutation	SNP	ENST00000216068.4	37	c.13G>C	CCDS13979.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.541072	0.65085	.	.	ENSG00000100246	ENST00000216068;ENST00000406199	.	.	.	5.18	5.18	0.71444	.	0.155728	0.56097	D	0.000031	T	0.50803	0.1637	L	0.49126	1.545	0.80722	D	1	P	0.39216	0.664	B	0.32289	0.143	T	0.51284	-0.8725	9	0.29301	T	0.29	.	18.8819	0.92358	0.0:1.0:0.0:0.0	.	5	O96015	DNAL4_HUMAN	Q	5	.	ENSP00000216068:E5Q	E	-	1	0	DNAL4	37508670	1.000000	0.71417	0.972000	0.41901	0.997000	0.91878	6.873000	0.75541	2.688000	0.91661	0.655000	0.94253	GAA		0.572	DNAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321032.1		NM_005740		10	30	0	0	0	0.006214	0	10	30		
FAM118A	55007	broad.mit.edu	37	22	45728377	45728377	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr22:45728377G>T	ENST00000216214.3	+	7	1557	c.723G>T	c.(721-723)caG>caT	p.Q241H	FAM118A_ENST00000405548.3_Missense_Mutation_p.Q59H|FAM118A_ENST00000441876.2_Missense_Mutation_p.Q241H	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A	241						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TTCGTGATCAGATATTCCAGG	0.463																																						uc003bfz.3		NaN																	0					0						c.(721-723)CAG>CAT		hypothetical protein LOC55007							126.0	133.0	131.0					22																	45728377		2203	4300	6503	SO:0001583	missense	55007					integral to membrane		g.chr22:45728377G>T	BC013696	CCDS14065.1	22q13.3	2006-04-26	2006-04-26	2006-04-26	ENSG00000100376	ENSG00000100376			1313	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 8"""	C22orf8		12477932	Standard	NM_001104595		Approved	FLJ20635, bK268H5.C22.4	uc003bga.4	Q9NWS6	OTTHUMG00000151338	ENST00000216214.3:c.723G>T	22.37:g.45728377G>T	ENSP00000216214:p.Gln241His					FAM118A_uc003bga.3_Missense_Mutation_p.Q241H|FAM118A_uc011aqr.1_Missense_Mutation_p.Q59H	p.Q241H	NM_001104595	NP_001098065	Q9NWS6	F118A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)	7	1339	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	241					B3KWG4|B4DY02|Q5TII5|Q96CY3	Missense_Mutation	SNP	ENST00000216214.3	37	c.723G>T	CCDS14065.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.920363	0.73098	.	.	ENSG00000100376	ENST00000216214;ENST00000441876;ENST00000405548	T;T;T	0.29917	1.55;1.55;1.55	5.8	5.8	0.92144	.	0.134805	0.52532	D	0.000071	T	0.40094	0.1103	L	0.36672	1.1	0.41634	D	0.989035	D	0.67145	0.996	P	0.62014	0.897	T	0.04347	-1.0958	10	0.24483	T	0.36	-12.3553	12.9483	0.58386	0.0748:0.0:0.9252:0.0	.	241	Q9NWS6	F118A_HUMAN	H	241;241;59	ENSP00000216214:Q241H;ENSP00000395892:Q241H;ENSP00000384836:Q59H	ENSP00000216214:Q241H	Q	+	3	2	FAM118A	44107041	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.412000	0.34714	2.743000	0.94032	0.655000	0.94253	CAG		0.463	FAM118A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322260.1		NM_017911		42	67	1	0	3.78316e-11	0.025465	4.04027e-11	42	67		
BRD1	23774	broad.mit.edu	37	22	50187866	50187866	+	Silent	SNP	G	G	A	rs557124526		TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr22:50187866G>A	ENST00000216267.8	-	6	2661	c.2175C>T	c.(2173-2175)ctC>ctT	p.L725L	BRD1_ENST00000342989.5_Silent_p.L320L|BRD1_ENST00000457780.2_Silent_p.L725L|BRD1_ENST00000404034.1_Silent_p.L725L|BRD1_ENST00000542442.1_Silent_p.L413L|BRD1_ENST00000404760.1_Silent_p.L725L	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	725					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AGGTGAGGTCGAGCATGTCCA	0.597													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18677	0.0		0.0	False		,,,				2504	0.0					uc003biv.2		NaN																	0				pancreas(1)	1						c.(2173-2175)CTC>CTT		bromodomain containing protein 1							64.0	68.0	67.0					22																	50187866		2203	4300	6503	SO:0001819	synonymous_variant	23774				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	g.chr22:50187866G>A	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.2175C>T	22.37:g.50187866G>A						BRD1_uc011arf.1_Silent_p.L320L|BRD1_uc011arg.1_Silent_p.L774L|BRD1_uc011arh.1_Silent_p.L725L|BRD1_uc003biu.3_Silent_p.L725L	p.L725L	NM_014577	NP_055392	O95696	BRD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)	6	2662	-		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)	725					A6ZJA4	Silent	SNP	ENST00000216267.8	37	c.2175C>T	CCDS14080.1																																																																																				0.597	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1		NM_014577		17	32	0	0	0	0.006122	0	17	32		
PLXNB2	23654	broad.mit.edu	37	22	50727555	50727555	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr22:50727555A>G	ENST00000449103.1	-	4	1225	c.1085T>C	c.(1084-1086)tTc>tCc	p.F362S	PLXNB2_ENST00000359337.4_Missense_Mutation_p.F362S|PLXNB2_ENST00000496720.1_5'Flank			O15031	PLXB2_HUMAN	plexin B2	362	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCCACATGGGAAGCTCTTGCT	0.687																																						uc003bkv.3		NaN																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1084-1086)TTC>TCC		plexin B2 precursor							9.0	11.0	10.0					22																	50727555		2070	4171	6241	SO:0001583	missense	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50727555A>G		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.1085T>C	22.37:g.50727555A>G	ENSP00000409171:p.Phe362Ser						p.F362S	NM_012401	NP_036533	O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	4	1191	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	362			Extracellular (Potential).|Sema.		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	c.1085T>C	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	A	15.50	2.852169	0.51270	.	.	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000414275;ENST00000411680;ENST00000432455	T;T;T;T	0.10099	2.91;2.91;3.7;2.91	4.43	4.43	0.53597	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.56097	D	0.000040	T	0.18173	0.0436	M	0.79123	2.44	0.40274	D	0.978324	P	0.47191	0.891	P	0.46758	0.526	T	0.02758	-1.1114	10	0.30854	T	0.27	.	9.2951	0.37811	0.8396:0.0:0.0:0.1603	.	362	O15031	PLXB2_HUMAN	S	362;362;362;21;362	ENSP00000409171:F362S;ENSP00000352288:F362S;ENSP00000400679:F21S;ENSP00000392620:F362S	ENSP00000352288:F362S	F	-	2	0	PLXNB2	49069682	1.000000	0.71417	0.989000	0.46669	0.304000	0.27724	3.964000	0.56780	1.864000	0.54056	0.459000	0.35465	TTC		0.687	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3		NM_012401		3	10	0	0	0	0.004672	0	3	10		
GRM7	2917	broad.mit.edu	37	3	7503406	7503406	+	Silent	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr3:7503406C>G	ENST00000357716.4	+	7	1786	c.1512C>G	c.(1510-1512)ctC>ctG	p.L504L	GRM7_ENST00000486284.1_Silent_p.L504L|GRM7_ENST00000389336.4_Silent_p.L504L|GRM7_ENST00000402647.2_Silent_p.L504L|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000403881.1_Silent_p.L504L	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	504					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						AACTTCAGCTCAATGTGAGTT	0.443																																						uc003bqm.2		NaN																	0				ovary(4)|lung(3)	7						c.(1510-1512)CTC>CTG		glutamate receptor, metabotropic 7 isoform a	L-Glutamic Acid(DB00142)						148.0	137.0	141.0					3																	7503406		2203	4300	6503	SO:0001819	synonymous_variant	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7503406C>G	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.1512C>G	3.37:g.7503406C>G						GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Silent_p.L504L|GRM7_uc003bql.2_Silent_p.L504L|GRM7_uc003bqn.1_Silent_p.L87L|GRM7_uc010hch.1_5'UTR	p.L504L	NM_000844	NP_000835	Q14831	GRM7_HUMAN			7	1786	+			504			Extracellular (Potential).		Q8NFS2|Q8NFS3|Q8NFS4	Silent	SNP	ENST00000357716.4	37	c.1512C>G	CCDS43042.1																																																																																				0.443	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3		NM_000844		19	75	0	0	0	0.008871	0	19	75		
C3orf20	84077	broad.mit.edu	37	3	14745900	14745900	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr3:14745900G>A	ENST00000253697.3	+	7	1387	c.935G>A	c.(934-936)cGa>cAa	p.R312Q	C3orf20_ENST00000495387.1_3'UTR|C3orf20_ENST00000412910.1_Missense_Mutation_p.R190Q|C3orf20_ENST00000435614.1_Missense_Mutation_p.R190Q	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	312						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.R312Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						ATGATCTTACGAAACTACAAG	0.493																																						uc003byy.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)	ovary(3)|skin(1)	4						c.(934-936)CGA>CAA		hypothetical protein LOC84077							110.0	115.0	113.0					3																	14745900		2203	4300	6503	SO:0001583	missense	84077					cytoplasm|integral to membrane		g.chr3:14745900G>A	AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.935G>A	3.37:g.14745900G>A	ENSP00000253697:p.Arg312Gln					C3orf20_uc003byz.2_Missense_Mutation_p.R190Q|C3orf20_uc003bza.2_Missense_Mutation_p.R190Q|C3orf20_uc003byx.1_Intron	p.R312Q	NM_032137	NP_115513	Q8ND61	CC020_HUMAN			7	1339	+			312					Q7L0U6|Q8NCP2|Q9H0I7	Missense_Mutation	SNP	ENST00000253697.3	37	c.935G>A	CCDS33706.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.327885	0.41197	.	.	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	T;T;T	0.09723	3.23;2.95;2.95	4.91	2.8	0.32819	.	0.149471	0.31589	N	0.007385	T	0.07683	0.0193	L	0.34521	1.04	0.23381	N	0.997799	P	0.46952	0.887	B	0.40901	0.343	T	0.23404	-1.0189	10	0.72032	D	0.01	-15.8772	5.0826	0.14664	0.3086:0.0:0.6914:0.0	.	312	Q8ND61	CC020_HUMAN	Q	312;190;190	ENSP00000253697:R312Q;ENSP00000402933:R190Q;ENSP00000396081:R190Q	ENSP00000253697:R312Q	R	+	2	0	C3orf20	14720904	0.748000	0.28294	0.406000	0.26421	0.047000	0.14425	1.386000	0.34419	1.057000	0.40506	0.585000	0.79938	CGA		0.493	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1		NM_032137		27	76	0	0	0	0.024334	0	27	76		
TRIM71	131405	broad.mit.edu	37	3	32933231	32933231	+	Silent	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr3:32933231C>T	ENST00000383763.5	+	4	2598	c.2535C>T	c.(2533-2535)tcC>tcT	p.S845S		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	845					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACCGCCCTTCCGGCATCGCCA	0.527																																						uc003cff.2		NaN																	0				ovary(2)|large_intestine(1)	3						c.(2533-2535)TCC>TCT		tripartite motif-containing 71							126.0	135.0	132.0					3																	32933231		2062	4203	6265	SO:0001819	synonymous_variant	131405				multicellular organismal development	cytoplasm	zinc ion binding	g.chr3:32933231C>T		CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	32669	protein-coding gene	gene with protein product			"""tripartite motif-containing 71"", ""tripartite motif containing 71"""				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.2535C>T	3.37:g.32933231C>T							p.S845S	NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN			4	2598	+			845			NHL 6.			Silent	SNP	ENST00000383763.5	37	c.2535C>T	CCDS43060.1																																																																																				0.527	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341565.3		NM_001039111		29	121	0	0	0	0.008361	0	29	121		
FBXL2	25827	broad.mit.edu	37	3	33416785	33416785	+	Silent	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr3:33416785C>T	ENST00000484457.1	+	10	754	c.663C>T	c.(661-663)atC>atT	p.I221I	FBXL2_ENST00000542085.1_5'UTR|FBXL2_ENST00000507198.1_Silent_p.I153I|FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000538892.1_Silent_p.I153I|FBXL2_ENST00000538181.1_Silent_p.I137I|FBXL2_ENST00000446237.3_5'UTR	NM_012157.3	NP_036289.3			F-box and leucine-rich repeat protein 2											endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						CTCAGCGTATCACGGATGAAG	0.512																																						uc003cfp.2		NaN																	0				large_intestine(1)	1						c.(661-663)ATC>ATT		F-box and leucine-rich repeat protein 2							126.0	123.0	124.0					3																	33416785		2203	4300	6503	SO:0001819	synonymous_variant	25827				interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity	g.chr3:33416785C>T	AF174589	CCDS2658.1, CCDS54560.1	3p22.3	2011-06-09			ENSG00000153558	ENSG00000153558		"""F-boxes / Leucine-rich repeats"""	13598	protein-coding gene	gene with protein product		605652				10508920, 10531035	Standard	NM_012157		Approved	FBL2, FBL3	uc003cfp.3	Q9UKC9	OTTHUMG00000130745	ENST00000484457.1:c.663C>T	3.37:g.33416785C>T						FBXL2_uc011axm.1_RNA|FBXL2_uc011axn.1_RNA|FBXL2_uc011axo.1_Silent_p.I116I|FBXL2_uc011axp.1_Silent_p.I137I|FBXL2_uc011axq.1_RNA|FBXL2_uc011axr.1_RNA|FBXL2_uc011axs.1_RNA	p.I221I	NM_012157	NP_036289	Q9UKC9	FBXL2_HUMAN			10	734	+			221			LRR 7.			Silent	SNP	ENST00000484457.1	37	c.663C>T	CCDS2658.1																																																																																				0.512	FBXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253245.2		NM_012157		48	35	0	0	0	0.01441	0	48	35		
EPM2AIP1	9852	broad.mit.edu	37	3	37033161	37033161	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr3:37033161C>G	ENST00000322716.5	-	1	1634	c.1408G>C	c.(1408-1410)Gaa>Caa	p.E470Q	MLH1_ENST00000539477.1_5'Flank|MLH1_ENST00000435176.1_5'Flank|MLH1_ENST00000536378.1_5'Flank|MLH1_ENST00000458205.2_5'Flank|MLH1_ENST00000231790.2_5'Flank|MLH1_ENST00000455445.2_5'Flank	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	470					positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						CTCTCAAATTCTTTTTGGAGA	0.328																																						uc003cgk.2		NaN																	0					0						c.(1408-1410)GAA>CAA		EPM2A interacting protein 1							31.0	31.0	31.0					3																	37033161		1804	4064	5868	SO:0001583	missense	9852					endoplasmic reticulum		g.chr3:37033161C>G	AB018309	CCDS46790.1	3p22.1	2003-03-26							19735	protein-coding gene	gene with protein product		607911					Standard	NM_014805		Approved	KIAA0766, FLJ11207	uc003cgk.3	Q7L775		ENST00000322716.5:c.1408G>C	3.37:g.37033161C>G	ENSP00000406027:p.Glu470Gln					MLH1_uc011aye.1_5'Flank|MLH1_uc003cgl.2_5'Flank|MLH1_uc011ayb.1_5'Flank|MLH1_uc010hge.2_5'Flank|MLH1_uc003cgn.3_5'Flank|MLH1_uc011ayc.1_5'Flank|MLH1_uc011ayd.1_5'Flank|MLH1_uc003cgo.2_5'Flank	p.E470Q	NM_014805	NP_055620	Q7L775	EPMIP_HUMAN			1	1635	-			470					O94866|Q9H3L3	Missense_Mutation	SNP	ENST00000322716.5	37	c.1408G>C	CCDS46790.1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.958319	0.34565	.	.	ENSG00000178567	ENST00000322716	T	0.18016	2.24	4.71	2.82	0.32997	.	.	.	.	.	T	0.20780	0.0500	L	0.50333	1.59	0.23254	N	0.998039	P	0.39250	0.665	P	0.46208	0.507	T	0.06373	-1.0830	9	0.32370	T	0.25	-13.9167	7.8949	0.29699	0.0:0.738:0.167:0.095	.	470	Q7L775	EPMIP_HUMAN	Q	470	ENSP00000406027:E470Q	ENSP00000406027:E470Q	E	-	1	0	EPM2AIP1	37008165	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.198000	0.51035	2.420000	0.82092	0.655000	0.94253	GAA		0.328	EPM2AIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470593.1		NM_014805		10	38	0	0	0	0.006214	0	10	38		
NDUFAF3	25915	broad.mit.edu	37	3	49062587	49062587	+	IGR	SNP	C	C	T	rs183457824	byFrequency	TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr3:49062587C>T	ENST00000326925.6	+	0	2012				DALRD3_ENST00000496568.1_5'Flank|IMPDH2_ENST00000326739.4_Silent_p.A374A	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3						mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						CCAAGGCTTTCGCAATATGAC	0.577													C|||	2	0.000399361	0.0	0.0014	5008	,	,		20120	0.0		0.001	False		,,,				2504	0.0					uc003cvt.2		NaN																	0				lung(1)	1						c.(1120-1122)GCG>GCA		inosine monophosphate dehydrogenase 2	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)						77.0	80.0	79.0					3																	49062587		2203	4300	6503	SO:0001628	intergenic_variant	3615				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding	g.chr3:49062587C>T		CCDS2784.1, CCDS2785.1	3p21.31	2012-10-12	2012-05-08	2009-03-18	ENSG00000178057	ENSG00000178057		"""Mitochondrial respiratory chain complex assembly factors"""	29918	protein-coding gene	gene with protein product		612911	"""chromosome 3 open reading frame 60"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3"""	C3orf60		12653254, 9349717	Standard	NM_199069		Approved	MGC10527, DKFZP564J0123, E3-3, 2P1	uc003cvq.3	Q9BU61	OTTHUMG00000156773		3.37:g.49062587C>T							p.A374A	NM_000884	NP_000875	P12268	IMDH2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	10	1214	-			374						Silent	SNP	ENST00000326925.6	37	c.1122G>A	CCDS2784.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	C	8.656	0.899462	0.17686	.	.	ENSG00000178035	ENST00000429182	.	.	.	5.33	2.57	0.30868	.	.	.	.	.	T	0.45538	0.1347	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27365	-1.0076	4	.	.	.	-17.1485	2.6964	0.05136	0.1385:0.1281:0.4775:0.2559	.	.	.	.	K	330	.	.	E	-	1	0	IMPDH2	49037591	0.998000	0.40836	1.000000	0.80357	0.970000	0.65996	0.381000	0.20619	0.251000	0.21505	-0.779000	0.03376	GAA		0.577	NDUFAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345683.2		NM_199069		30	23	0	0	0	0.00632	0	30	23		
OR5H2	79310	broad.mit.edu	37	3	98002110	98002110	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr3:98002110C>T	ENST00000355273.2	+	1	379	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	127						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						GGCATATGATCGCTATGTAGC	0.378																																						uc003dsj.1		NaN																	0				ovary(3)	3						c.(379-381)CGC>TGC		olfactory receptor, family 5, subfamily H,							106.0	99.0	102.0					3																	98002110		2203	4300	6503	SO:0001583	missense	79310				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98002110C>T		CCDS33801.1	3q11.2	2013-09-23			ENSG00000197938	ENSG00000197938		"""GPCR / Class A : Olfactory receptors"""	14752	protein-coding gene	gene with protein product							Standard	NM_001005482		Approved		uc003dsj.1	Q8NGV7	OTTHUMG00000160080	ENST00000355273.2:c.379C>T	3.37:g.98002110C>T	ENSP00000347418:p.Arg127Cys						p.R127C	NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN			1	379	+			127			Cytoplasmic (Potential).		Q6IF87	Missense_Mutation	SNP	ENST00000355273.2	37	c.379C>T	CCDS33801.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.723524	0.48728	.	.	ENSG00000197938	ENST00000355273	T	0.77358	-1.09	3.2	0.157	0.14915	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39407	U	0.001379	D	0.83852	0.5344	M	0.81239	2.535	0.40492	D	0.980552	D	0.89917	1.0	D	0.78314	0.991	T	0.79995	-0.1568	10	0.72032	D	0.01	.	4.26	0.10737	0.178:0.6122:0.0:0.2098	.	127	Q8NGV7	OR5H2_HUMAN	C	127	ENSP00000347418:R127C	ENSP00000347418:R127C	R	+	1	0	OR5H2	99484800	0.904000	0.30761	0.169000	0.22859	0.979000	0.70002	0.334000	0.19787	-0.098000	0.12285	0.543000	0.68304	CGC		0.378	OR5H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359113.2				31	99	0	0	0	0.007291	0	31	99		
BTLA	151888	broad.mit.edu	37	3	112190070	112190070	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr3:112190070C>G	ENST00000334529.5	-	3	738	c.536G>C	c.(535-537)aGa>aCa	p.R179T	BTLA_ENST00000383680.4_Intron|BTLA_ENST00000474965.1_5'Flank	NM_181780.3	NP_861445	Q7Z6A9	BTLA_HUMAN	B and T lymphocyte associated	179					immune response-regulating cell surface receptor signaling pathway (GO:0002768)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of B cell proliferation (GO:0030889)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1)	11		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)				TTGGTGCCTTCTCAGGCAGCA	0.493																																						uc003dza.3		NaN																	0					0						c.(535-537)AGA>ACA		B and T lymphocyte associated isoform 1							101.0	90.0	94.0					3																	112190070		2203	4300	6503	SO:0001583	missense	151888				T cell costimulation		receptor activity	g.chr3:112190070C>G	AY293286	CCDS33819.1, CCDS43130.1	3q13.2	2013-01-11			ENSG00000186265	ENSG00000186265		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21087	protein-coding gene	gene with protein product		607925				12796776	Standard	NM_001085357		Approved	BTLA1, CD272	uc003dza.4	Q7Z6A9	OTTHUMG00000159255	ENST00000334529.5:c.536G>C	3.37:g.112190070C>G	ENSP00000333919:p.Arg179Thr					BTLA_uc003dzb.3_Intron	p.R179T	NM_181780	NP_861445	Q7Z6A9	BTLA_HUMAN			3	739	-		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)	179			Cytoplasmic (Potential).		Q3B831|Q3HS85|Q6ZNH9	Missense_Mutation	SNP	ENST00000334529.5	37	c.536G>C	CCDS33819.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.361273	0.24684	.	.	ENSG00000186265	ENST00000334529	T	0.26373	1.74	4.0	-0.605	0.11623	.	0.596968	0.15065	N	0.282578	T	0.23094	0.0558	L	0.56769	1.78	0.21184	N	0.999769	P	0.47762	0.9	B	0.42282	0.382	T	0.12372	-1.0550	10	0.59425	D	0.04	-8.4248	7.2549	0.26171	0.0:0.5431:0.0:0.4569	.	179	Q7Z6A9	BTLA_HUMAN	T	179	ENSP00000333919:R179T	ENSP00000333919:R179T	R	-	2	0	BTLA	113672760	0.001000	0.12720	0.239000	0.24122	0.868000	0.49771	-0.164000	0.09983	-0.110000	0.12022	0.655000	0.94253	AGA		0.493	BTLA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354101.1		NM_181780		15	47	0	0	0	0.024245	0	15	47		
GOLGB1	2804	broad.mit.edu	37	3	121396236	121396236	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr3:121396236T>C	ENST00000340645.5	-	16	9045	c.8920A>G	c.(8920-8922)Atc>Gtc	p.I2974V	GOLGB1_ENST00000393667.3_Missense_Mutation_p.I2979V	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2974					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTATCTGAGATAGCCATAAGG	0.408																																						uc003eei.3		NaN																	0				ovary(6)|breast(2)|skin(2)	10						c.(8920-8922)ATC>GTC		golgi autoantigen, golgin subfamily b,							160.0	152.0	155.0					3																	121396236		2203	4300	6503	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121396236T>C	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.8920A>G	3.37:g.121396236T>C	ENSP00000341848:p.Ile2974Val					GOLGB1_uc010hrc.2_Missense_Mutation_p.I2979V|GOLGB1_uc003eej.3_Missense_Mutation_p.I2940V	p.I2974V	NM_004487	NP_004478	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	16	9046	-			2974			Cytoplasmic (Potential).|Potential.		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.8920A>G	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	T	3.398	-0.122928	0.06795	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.15017	2.46;2.47	5.88	-0.47	0.12131	.	0.657697	0.13740	N	0.366050	T	0.09598	0.0236	N	0.14661	0.345	0.27558	N	0.950295	B;B;B	0.26744	0.158;0.158;0.009	B;B;B	0.29785	0.107;0.107;0.031	T	0.36625	-0.9740	10	0.23891	T	0.37	.	10.29	0.43590	0.0:0.08:0.6157:0.3043	.	2979;2979;2974	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	V	2974;2979	ENSP00000341848:I2974V;ENSP00000377275:I2979V	ENSP00000341848:I2974V	I	-	1	0	GOLGB1	122878926	0.172000	0.23043	0.774000	0.31636	0.083000	0.17756	-0.174000	0.09839	-0.386000	0.07821	-0.321000	0.08615	ATC		0.408	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1		NM_004487		14	61	0	0	0	0.020292	0	14	61		
PDIA5	10954	broad.mit.edu	37	3	122849434	122849434	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr3:122849434C>T	ENST00000316218.7	+	11	976	c.881C>T	c.(880-882)tCc>tTc	p.S294F		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	294	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	oxidoreductase activity (GO:0016491)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		AAGGAACACTCCTCTGTCCTC	0.587																																						uc003egc.1		NaN																	0				ovary(1)	1						c.(880-882)TCC>TTC		protein disulfide isomerase A5 precursor							150.0	124.0	133.0					3																	122849434		2203	4300	6503	SO:0001583	missense	10954				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr3:122849434C>T	AK054963	CCDS3020.1	3q21.1	2009-11-20	2005-06-29		ENSG00000065485	ENSG00000065485	5.3.4.1	"""Protein disulfide isomerases"""	24811	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 5"""			7556671	Standard	NM_006810		Approved	PDIR, FLJ30401	uc003egc.2	Q14554	OTTHUMG00000159558	ENST00000316218.7:c.881C>T	3.37:g.122849434C>T	ENSP00000323313:p.Ser294Phe					PDIA5_uc003egd.1_Intron	p.S294F	NM_006810	NP_006801	Q14554	PDIA5_HUMAN		GBM - Glioblastoma multiforme(114;0.0427)	11	937	+			294			Thioredoxin 2.		D3DN95|Q9BV43	Missense_Mutation	SNP	ENST00000316218.7	37	c.881C>T	CCDS3020.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.540457	0.85917	.	.	ENSG00000065485	ENST00000316218	T	0.39406	1.08	5.76	5.76	0.90799	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.229775	0.46758	D	0.000264	T	0.44644	0.1303	L	0.41492	1.28	0.51233	D	0.999914	P	0.37176	0.586	B	0.42495	0.389	T	0.41179	-0.9523	10	0.72032	D	0.01	.	18.1526	0.89679	0.0:1.0:0.0:0.0	.	294	Q14554	PDIA5_HUMAN	F	294	ENSP00000323313:S294F	ENSP00000323313:S294F	S	+	2	0	PDIA5	124332124	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.939000	0.75911	2.724000	0.93272	0.462000	0.41574	TCC		0.587	PDIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356192.1		NM_006810		43	32	0	0	0	0.01441	0	43	32		
PLXNA1	5361	broad.mit.edu	37	3	126707544	126707544	+	Silent	SNP	T	T	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	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		13	20	0	0	0	0.00499	0	13	20		
PLXNA1	5361	broad.mit.edu	37	3	126708282	126708282	+	Silent	SNP	C	C	T	rs146246704	byFrequency	TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr3:126708282C>T	ENST00000393409.2	+	1	846	c.846C>T	c.(844-846)atC>atT	p.I282I	PLXNA1_ENST00000251772.4_Silent_p.I259I	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	282	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)			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)		CGTCCAAGATCGTGCGGCTCT	0.602													C|||	2	0.000399361	0.0015	0.0	5008	,	,		20969	0.0		0.0	False		,,,				2504	0.0					uc003ejg.2		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(775-777)ATC>ATT		plexin A1		C		3,4403	6.2+/-15.9	0,3,2200	131.0	129.0	130.0		846	-1.4	1.0	3	dbSNP_134	130	0,8600		0,0,4300	no	coding-synonymous	PLXNA1	NM_032242.3		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		282/1897	126708282	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126708282C>T	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.846C>T	3.37:g.126708282C>T							p.I259I	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	1	781	+			282			Sema.|Extracellular (Potential).			Silent	SNP	ENST00000393409.2	37	c.777C>T	CCDS33847.2																																																																																				0.602	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1		NM_032242		50	138	0	0	0	0.01441	0	50	138		
MECOM	2122	broad.mit.edu	37	3	168840502	168840502	+	Missense_Mutation	SNP	T	T	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr3:168840502T>G	ENST00000464456.1	-	5	1480	c.280A>C	c.(280-282)Atg>Ctg	p.M94L	MECOM_ENST00000433243.2_Missense_Mutation_p.M94L|MECOM_ENST00000264674.3_Missense_Mutation_p.M158L|MECOM_ENST00000472280.1_Missense_Mutation_p.M94L|MECOM_ENST00000468789.1_Missense_Mutation_p.M94L|MECOM_ENST00000460814.1_Missense_Mutation_p.M94L|MECOM_ENST00000392736.3_Missense_Mutation_p.M94L|MECOM_ENST00000494292.1_Missense_Mutation_p.M282L	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TGTGACAGCATGTGTTTCTCC	0.373																																						uc003ffi.3		NaN																	0				lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						c.(280-282)ATG>CTG		MDS1 and EVI1 complex locus isoform b							158.0	135.0	143.0					3																	168840502		2203	4300	6503	SO:0001583	missense	2122				apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:168840502T>G	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.280A>C	3.37:g.168840502T>G	ENSP00000419770:p.Met94Leu					MECOM_uc010hwk.1_Missense_Mutation_p.M117L|MECOM_uc003ffj.3_Missense_Mutation_p.M158L|MECOM_uc011bpi.1_Missense_Mutation_p.M94L|MECOM_uc003ffn.3_Missense_Mutation_p.M94L|MECOM_uc003ffk.2_Missense_Mutation_p.M94L|MECOM_uc003ffl.2_Missense_Mutation_p.M254L|MECOM_uc011bpj.1_Missense_Mutation_p.M282L|MECOM_uc011bpk.1_Missense_Mutation_p.M84L|MECOM_uc010hwn.2_Missense_Mutation_p.M282L|MECOM_uc003ffm.1_Missense_Mutation_p.M158L	p.M94L	NM_005241	NP_005232	Q03112	EVI1_HUMAN			5	549	-			94			Interaction with MAPK9, SMAD3 and probably SUV39H1.|C2H2-type 2.		Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.280A>C	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	T	13.21	2.169276	0.38315	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243;ENST00000492586;ENST00000484519;ENST00000460890;ENST00000487503;ENST00000494597	T;T;T;T;T;T;T;T;T;T;T;T;T	0.29655	2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;1.56;1.56;1.56	5.57	5.57	0.84162	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.261722	0.27164	N	0.020637	T	0.22781	0.0550	N	0.25060	0.705	0.33753	D	0.620895	B;B;B;B;B	0.06786	0.001;0.0;0.001;0.0;0.0	B;B;B;B;B	0.08055	0.002;0.001;0.003;0.001;0.002	T	0.18999	-1.0319	10	0.24483	T	0.36	-14.0929	15.7313	0.77807	0.0:0.0:0.0:1.0	.	282;94;282;158;94	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	L	158;94;94;94;282;94;94;94;69;94;94;94;94	ENSP00000264674:M158L;ENSP00000376493:M94L;ENSP00000419770:M94L;ENSP00000420048:M94L;ENSP00000417899:M282L;ENSP00000419995:M94L;ENSP00000420466:M94L;ENSP00000394302:M94L;ENSP00000417506:M69L;ENSP00000417299:M94L;ENSP00000417922:M94L;ENSP00000419757:M94L;ENSP00000420072:M94L	ENSP00000264674:M158L	M	-	1	0	MECOM	170323196	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.744000	0.55112	2.119000	0.64992	0.533000	0.62120	ATG		0.373	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1		NM_005241, NM_004991		36	27	0	0	0	0.017118	0	36	27		
HTRA3	94031	broad.mit.edu	37	4	8288376	8288376	+	Missense_Mutation	SNP	G	G	A	rs560803093		TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr4:8288376G>A	ENST00000307358.2	+	3	778	c.574G>A	c.(574-576)Gtg>Atg	p.V192M	HTRA3_ENST00000382512.3_Missense_Mutation_p.V192M	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	192	Serine protease.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						CAATGCCCACGTGGTGTCCAG	0.602													G|||	0	0.0	0.0	0.0	5008	,	,		17656	0.0		0.0	False		,,,				2504	0.0					uc003gla.2		NaN																	0				ovary(1)	1						c.(574-576)GTG>ATG		HtrA serine peptidase 3 precursor							102.0	97.0	98.0					4																	8288376		2203	4300	6503	SO:0001583	missense	94031				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr4:8288376G>A	AY040094	CCDS3400.1, CCDS75105.1	4p16.1	2008-02-05			ENSG00000170801	ENSG00000170801			30406	protein-coding gene	gene with protein product	"""pregnancy-related serine protease"""	608785				12513693, 14500695	Standard	XM_005248040		Approved	Tasp, Prsp	uc003gla.3	P83110	OTTHUMG00000090561	ENST00000307358.2:c.574G>A	4.37:g.8288376G>A	ENSP00000303766:p.Val192Met					HTRA3_uc003gkz.2_Missense_Mutation_p.V192M	p.V192M	NM_053044	NP_444272	P83110	HTRA3_HUMAN			3	778	+			192			Serine protease.		Q7Z7A2	Missense_Mutation	SNP	ENST00000307358.2	37	c.574G>A	CCDS3400.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165182	0.78339	.	.	ENSG00000170801	ENST00000307358;ENST00000382512	D;D	0.93604	-3.25;-3.25	4.08	4.08	0.47627	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.000000	0.64402	D	0.000003	D	0.98071	0.9364	H	0.98370	4.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.968	D	0.99870	1.1095	10	0.87932	D	0	-4.1722	16.2639	0.82565	0.0:0.0:1.0:0.0	.	192;192	P83110;P83110-2	HTRA3_HUMAN;.	M	192	ENSP00000303766:V192M;ENSP00000371952:V192M	ENSP00000303766:V192M	V	+	1	0	HTRA3	8339276	1.000000	0.71417	1.000000	0.80357	0.463000	0.32649	9.053000	0.93860	1.826000	0.53198	0.462000	0.41574	GTG		0.602	HTRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092669.1		NM_053044		28	34	0	0	0	0.024334	0	28	34		
BEND4	389206	broad.mit.edu	37	4	42145579	42145579	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr4:42145579G>A	ENST00000502486.1	-	3	1499	c.920C>T	c.(919-921)tCa>tTa	p.S307L	BEND4_ENST00000504360.1_Missense_Mutation_p.S303L	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	307										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						CAGTGTAGATGAAGATGGGTG	0.542																																						uc003gwn.2		NaN																	0					0						c.(919-921)TCA>TTA		BEN domain containing 4 isoform a							39.0	37.0	38.0					4																	42145579		2017	4176	6193	SO:0001583	missense	389206							g.chr4:42145579G>A	AK092951	CCDS47048.1	4p13	2012-11-22	2008-10-03	2008-10-03	ENSG00000188848	ENSG00000188848		"""BEN domain containing"""	23815	protein-coding gene	gene with protein product			"""coiled-coil domain containing 4"""	CCDC4			Standard	NM_207406		Approved	FLJ35632, FLJ43965	uc003gwn.3	Q6ZU67	OTTHUMG00000160531	ENST00000502486.1:c.920C>T	4.37:g.42145579G>A	ENSP00000421169:p.Ser307Leu					BEND4_uc003gwm.2_Missense_Mutation_p.S307L|BEND4_uc011byy.1_Missense_Mutation_p.S307L	p.S307L	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN			3	1500	-			307					A1A5D6|A1A5D7|C9JQZ5|Q58A26|Q58A27	Missense_Mutation	SNP	ENST00000502486.1	37	c.920C>T	CCDS47048.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.508676	0.64410	.	.	ENSG00000188848	ENST00000411720;ENST00000502486;ENST00000504360	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.65842	0.2730	N	0.19112	0.55	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.83275	0.996;0.991;0.996	T	0.70498	-0.4855	9	0.87932	D	0	-12.4724	19.2223	0.93803	0.0:0.0:1.0:0.0	.	229;307;307	Q6ZU67-3;Q6ZU67;Q6ZU67-2	.;BEND4_HUMAN;.	L	178;307;303	.	ENSP00000412495:S178L	S	-	2	0	BEND4	41840336	1.000000	0.71417	0.126000	0.21872	0.077000	0.17291	9.476000	0.97823	2.648000	0.89879	0.563000	0.77884	TCA		0.542	BEND4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360975.2		NM_207406		4	3	0	0	0	0.009096	0	4	3		
TMEM165	55858	broad.mit.edu	37	4	56284049	56284049	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr4:56284049T>A	ENST00000381334.5	+	4	922	c.689T>A	c.(688-690)tTg>tAg	p.L230*	TMEM165_ENST00000506198.1_Intron|TMEM165_ENST00000514904.1_3'UTR|TMEM165_ENST00000542052.1_Nonsense_Mutation_p.L167*	NM_018475.4	NP_060945.2	Q9HC07	TM165_HUMAN	transmembrane protein 165	230					cellular calcium ion homeostasis (GO:0006874)|Golgi calcium ion transport (GO:0032472)|protein N-linked glycosylation (GO:0006487)|regulation of lysosomal lumen pH (GO:0035751)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				endometrium(1)|kidney(1)|large_intestine(2)	4	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)			AAAAAGTGGTTGCATTTTATT	0.353																																						uc003hax.2		NaN																	0					0						c.(688-690)TTG>TAG		transmembrane protein 165							113.0	113.0	113.0					4																	56284049		2203	4300	6503	SO:0001587	stop_gained	55858					integral to membrane		g.chr4:56284049T>A	AF183409	CCDS3499.1	4q12	2014-03-13			ENSG00000134851	ENSG00000134851			30760	protein-coding gene	gene with protein product	"""TPA regulated locus"""	614726				3202867, 22683087, 23575229	Standard	NM_018475		Approved	TMPT27, TPARL, GDT1	uc003hax.3	Q9HC07	OTTHUMG00000128735	ENST00000381334.5:c.689T>A	4.37:g.56284049T>A	ENSP00000370736:p.Leu230*					TMEM165_uc011bzy.1_Nonsense_Mutation_p.L167*	p.L230*	NM_018475	NP_060945	Q9HC07	TM165_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)		4	956	+	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		230			Helical; (Potential).		A8K3P8|B4DHW1|Q9BTN9|Q9NZ34	Nonsense_Mutation	SNP	ENST00000381334.5	37	c.689T>A	CCDS3499.1	.	.	.	.	.	.	.	.	.	.	T	38	6.951324	0.97960	.	.	ENSG00000134851	ENST00000381334;ENST00000542052	.	.	.	5.42	5.42	0.78866	.	0.346512	0.28067	N	0.016724	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-11.6924	14.031	0.64615	0.0:0.0:0.0:1.0	.	.	.	.	X	230;167	.	ENSP00000370736:L230X	L	+	2	0	TMEM165	55978806	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.528000	0.53524	2.066000	0.61787	0.482000	0.46254	TTG		0.353	TMEM165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250646.4		NM_018475		3	27	0	0	0	0.004672	0	3	27		
METTL14	57721	broad.mit.edu	37	4	119613186	119613186	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr4:119613186C>A	ENST00000388822.5	+	5	542	c.375C>A	c.(373-375)gaC>gaA	p.D125E	METTL14_ENST00000506780.1_Missense_Mutation_p.D87E			Q9HCE5	MET14_HUMAN	methyltransferase like 14	125					mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						ATTTTGTAGACACTGGACATA	0.353																																						uc003icf.2		NaN																	0					0						c.(373-375)GAC>GAA		methyltransferase like 14							181.0	170.0	174.0					4																	119613186		2203	4300	6503	SO:0001583	missense	57721					nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity	g.chr4:119613186C>A	AB046847	CCDS34053.1	4q26	2009-02-24			ENSG00000145388	ENSG00000145388			29330	protein-coding gene	gene with protein product						10997877	Standard	NM_020961		Approved	KIAA1627	uc003icf.3	Q9HCE5	OTTHUMG00000161167	ENST00000388822.5:c.375C>A	4.37:g.119613186C>A	ENSP00000373474:p.Asp125Glu					METTL14_uc003icg.2_Missense_Mutation_p.D87E	p.D125E	NM_020961	NP_066012	Q9HCE5	MTL14_HUMAN			5	491	+			125					A6NIG1|Q969V2	Missense_Mutation	SNP	ENST00000388822.5	37	c.375C>A	CCDS34053.1	.	.	.	.	.	.	.	.	.	.	c	20.3	3.962815	0.74016	.	.	ENSG00000145388	ENST00000388822;ENST00000506780	.	.	.	5.94	1.3	0.21679	.	0.000000	0.85682	D	0.000000	T	0.75781	0.3896	M	0.78049	2.395	0.53688	D	0.999975	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.75317	-0.3360	9	0.72032	D	0.01	-0.924	10.4399	0.44460	0.0:0.5399:0.0:0.4601	.	87;125	D6RBL4;Q9HCE5	.;MTL14_HUMAN	E	125;87	.	ENSP00000373474:D125E	D	+	3	2	METTL14	119832634	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	1.343000	0.33930	0.140000	0.18849	-0.142000	0.14014	GAC		0.353	METTL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364034.3		NM_020961		22	59	1	0	1.96895e-08	0.016522	2.06928e-08	22	59		
CLGN	1047	broad.mit.edu	37	4	141310427	141310427	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr4:141310427C>T	ENST00000325617.5	-	15	2224	c.1784G>A	c.(1783-1785)gGa>gAa	p.G595E	CLGN_ENST00000537281.1_Missense_Mutation_p.G595E|CLGN_ENST00000414773.1_Missense_Mutation_p.G595E	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	595					binding of sperm to zona pellucida (GO:0007339)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					CGGCCCATCTCCAGATCCTGT	0.333																																						uc011chi.1		NaN																	0				ovary(2)|skin(1)	3						c.(1783-1785)GGA>GAA		calmegin precursor							136.0	136.0	136.0					4																	141310427		2203	4300	6503	SO:0001583	missense	1047				protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding	g.chr4:141310427C>T	D86322	CCDS3751.1	4q28.3-q31.1	2008-02-05			ENSG00000153132	ENSG00000153132			2060	protein-coding gene	gene with protein product		601858					Standard	NM_004362		Approved		uc003iii.3	O14967	OTTHUMG00000133414	ENST00000325617.5:c.1784G>A	4.37:g.141310427C>T	ENSP00000326699:p.Gly595Glu					CLGN_uc003iii.2_Missense_Mutation_p.G595E	p.G595E	NM_001130675	NP_001124147	O14967	CLGN_HUMAN			16	2002	-	all_hematologic(180;0.162)		595			Cytoplasmic (Potential).		B3KS90|B4DXV8|D3DNY8	Missense_Mutation	SNP	ENST00000325617.5	37	c.1784G>A	CCDS3751.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.834717	0.50951	.	.	ENSG00000153132	ENST00000325617;ENST00000414773;ENST00000537281;ENST00000545667	T;T;T	0.48522	0.81;0.81;0.81	5.22	5.22	0.72569	.	0.360128	0.27004	N	0.021416	T	0.46171	0.1379	L	0.31207	0.915	0.44409	D	0.997321	D	0.65815	0.995	P	0.54856	0.762	T	0.24905	-1.0147	10	0.05620	T	0.96	-29.4954	17.3145	0.87218	0.0:1.0:0.0:0.0	.	595	O14967	CLGN_HUMAN	E	595;595;595;512	ENSP00000326699:G595E;ENSP00000392782:G595E;ENSP00000439381:G595E	ENSP00000326699:G595E	G	-	2	0	CLGN	141529877	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	3.260000	0.51523	2.584000	0.87258	0.591000	0.81541	GGA		0.333	CLGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257272.2		NM_004362		10	50	0	0	0	0.006214	0	10	50		
LRBA	987	broad.mit.edu	37	4	151773605	151773605	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr4:151773605G>A	ENST00000357115.3	-	23	3500	c.3257C>T	c.(3256-3258)tCa>tTa	p.S1086L	LRBA_ENST00000507224.1_Missense_Mutation_p.S1086L|LRBA_ENST00000535741.1_Missense_Mutation_p.S1086L|LRBA_ENST00000510413.1_Missense_Mutation_p.S1086L	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1086						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					ATCCTCTTCTGAAGGAGAACT	0.383																																						uc010ipj.2		NaN																	0				ovary(3)|breast(3)|skin(1)	7						c.(3256-3258)TCA>TTA		LPS-responsive vesicle trafficking, beach and							82.0	84.0	83.0					4																	151773605		2203	4298	6501	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151773605G>A	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.3257C>T	4.37:g.151773605G>A	ENSP00000349629:p.Ser1086Leu					LRBA_uc003ilt.3_5'Flank|LRBA_uc003ilu.3_Missense_Mutation_p.S1086L	p.S1086L	NM_006726	NP_006717	P50851	LRBA_HUMAN			23	3731	-	all_hematologic(180;0.151)		1086					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.3257C>T	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.971580	0.34754	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.54479	0.99;1.14;0.99;0.57	5.87	5.87	0.94306	.	2.390740	0.01281	N	0.009728	T	0.46870	0.1415	L	0.27053	0.805	0.36893	D	0.889979	B;B	0.11235	0.002;0.004	B;B	0.13407	0.004;0.009	T	0.21075	-1.0256	10	0.39692	T	0.17	.	10.5907	0.45308	0.1464:0.0:0.8536:0.0	.	1086;1086	P50851;P50851-2	LRBA_HUMAN;.	L	1086	ENSP00000446299:S1086L;ENSP00000421552:S1086L;ENSP00000349629:S1086L;ENSP00000422180:S1086L	ENSP00000349629:S1086L	S	-	2	0	LRBA	151993055	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	1.929000	0.40114	2.941000	0.99782	0.655000	0.94253	TCA		0.383	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1				13	51	0	0	0	0.013537	0	13	51		
SDHA	6389	broad.mit.edu	37	5	224526	224527	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr5:224526_224527GG>TT	ENST00000264932.6	+	3	317_318	c.202_203GG>TT	c.(202-204)GGc>TTc	p.G68F	SDHA_ENST00000510361.1_Missense_Mutation_p.G68F|SDHA_ENST00000504309.1_Missense_Mutation_p.G68F	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	68					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	AGTGGTGGTAGGCGCTGGAGGG	0.47									Familial Paragangliomas																													uc003jao.3		NaN																	0					0						c.(202-204)GGC>TTC		succinate dehydrogenase complex, subunit A,	Succinic acid(DB00139)																																			SO:0001583	missense	6389	Familial_Paragangliomas	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	g.chr5:224526_224527GG>TT	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"""Mitochondrial respiratory chain complex / Complex II"""	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	Exception_encountered	5.37:g.224526_224527delinsTT	ENSP00000264932:p.Gly68Phe					SDHA_uc003jan.2_Missense_Mutation_p.G68F|SDHA_uc011clv.1_Missense_Mutation_p.G68F|SDHA_uc011clw.1_Missense_Mutation_p.G68F|SDHA_uc003jap.3_Missense_Mutation_p.G68F	p.G68F	NM_004168	NP_004159	P31040	DHSA_HUMAN	Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		3	317_318	+			68			FAD (By similarity).		A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	DNP	ENST00000264932.6	37	c.202_203GG>TT	CCDS3853.1																																																																																				0.470	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1		NM_004168		50	78	0	0	0	0.004672	0	50	78		
TRIO	7204	broad.mit.edu	37	5	14358313	14358313	+	Silent	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr5:14358313G>A	ENST00000344204.4	+	12	2097	c.2073G>A	c.(2071-2073)caG>caA	p.Q691Q	TRIO_ENST00000509967.2_Silent_p.Q642Q|TRIO_ENST00000537187.1_Silent_p.Q691Q	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	691					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AGGAGCTGCAGAAGGAGCTGC	0.687																																						uc003jff.2		NaN																	0				skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18						c.(2071-2073)CAG>CAA		triple functional domain (PTPRF interacting)							50.0	42.0	44.0					5																	14358313		2203	4300	6503	SO:0001819	synonymous_variant	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14358313G>A	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.2073G>A	5.37:g.14358313G>A						TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Silent_p.Q642Q|TRIO_uc003jfh.1_Silent_p.Q340Q	p.Q691Q	NM_007118	NP_009049	O75962	TRIO_HUMAN			12	2079	+	Lung NSC(4;0.000742)		691					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	ENST00000344204.4	37	c.2073G>A	CCDS3883.1																																																																																				0.687	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2		NM_007118		8	17	0	0	0	0.00308	0	8	17		
BASP1	10409	broad.mit.edu	37	5	17275374	17275374	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr5:17275374G>A	ENST00000322611.3	+	2	309	c.49G>A	c.(49-51)Gag>Aag	p.E17K		NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein 1	17					diaphragm development (GO:0060539)|glomerular visceral epithelial cell differentiation (GO:0072112)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|metanephric mesenchyme development (GO:0072075)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of heart growth (GO:0060421)|positive regulation of metanephric ureteric bud development (GO:2001076)|substantia nigra development (GO:0021762)|thorax and anterior abdomen determination (GO:0007356)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(8)	9						TGTGAACGACGAGAAAGCCAA	0.577																																						uc003jfx.2		NaN																	0					0						c.(49-51)GAG>AAG		brain abundant, membrane attached signal protein							44.0	48.0	47.0					5																	17275374		2198	4293	6491	SO:0001583	missense	10409				glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr5:17275374G>A	AF039656	CCDS3888.1	5p15.1	2010-12-03			ENSG00000176788	ENSG00000176788			957	protein-coding gene	gene with protein product		605940				9310187, 9749536	Standard	NM_001271606		Approved	NAP-22, NAP22, CAP23, CAP-23	uc031siz.1	P80723	OTTHUMG00000131061	ENST00000322611.3:c.49G>A	5.37:g.17275374G>A	ENSP00000319281:p.Glu17Lys						p.E17K	NM_006317	NP_006308	P80723	BASP1_HUMAN			2	228	+			17					B4DJA8|D3DTD5|O43596|Q5U0S0|Q9BWA5	Missense_Mutation	SNP	ENST00000322611.3	37	c.49G>A	CCDS3888.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657305	0.67586	.	.	ENSG00000176788	ENST00000322611;ENST00000447228	T	0.55234	0.53	4.75	4.75	0.60458	.	0.108387	0.38897	N	0.001537	T	0.60945	0.2308	L	0.52573	1.65	0.58432	D	0.999996	D	0.55385	0.971	P	0.53861	0.736	T	0.65869	-0.6063	10	0.72032	D	0.01	-13.5131	16.3404	0.83080	0.0:0.0:1.0:0.0	.	17	P80723	BASP1_HUMAN	K	17	ENSP00000319281:E17K	ENSP00000319281:E17K	E	+	1	0	BASP1	17328374	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.386000	0.79775	2.171000	0.68590	0.455000	0.32223	GAG		0.577	BASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253716.2				7	15	0	0	0	0.00308	0	7	15		
C5orf42	65250	broad.mit.edu	37	5	37154070	37154070	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr5:37154070G>C	ENST00000508244.1	-	40	8076	c.7983C>G	c.(7981-7983)ttC>ttG	p.F2661L	C5orf42_ENST00000274258.7_Missense_Mutation_p.F1559L|C5orf42_ENST00000425232.2_Missense_Mutation_p.F2661L			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2661						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TCTGTCCTTTGAATCGGAACT	0.393																																						uc011cpa.1		NaN																	0				ovary(4)|breast(2)|skin(1)	7						c.(7981-7983)TTC>TTG		hypothetical protein LOC65250							68.0	71.0	70.0					5																	37154070		2203	4300	6503	SO:0001583	missense	65250							g.chr5:37154070G>C		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.7983C>G	5.37:g.37154070G>C	ENSP00000421690:p.Phe2661Leu					C5orf42_uc003jkp.1_RNA|C5orf42_uc011coy.1_Missense_Mutation_p.F1179L|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.F1754L	p.F2661L	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		41	8214	-	all_lung(31;0.000616)		2661					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	c.7983C>G	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	G	9.171	1.021071	0.19433	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.22539	2.04;2.04;1.95;1.96	5.21	-1.42	0.08913	.	1.309190	0.05332	N	0.528574	T	0.15262	0.0368	L	0.50333	1.59	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.002	T	0.30001	-0.9993	10	0.08179	T	0.78	.	3.5017	0.07676	0.0761:0.248:0.2953:0.3806	.	2661;1559	E9PH94;Q9H799	.;CE042_HUMAN	L	2661;2661;1559;1727;1595	ENSP00000421690:F2661L;ENSP00000389014:F2661L;ENSP00000274258:F1559L;ENSP00000424223:F1727L	ENSP00000274258:F1559L	F	-	3	2	C5orf42	37189827	0.001000	0.12720	0.001000	0.08648	0.063000	0.16089	-0.046000	0.11983	-0.283000	0.09115	-0.196000	0.12772	TTC		0.393	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1		NM_023073		22	27	0	0	0	0.012319	0	22	27		
MAST4	375449	broad.mit.edu	37	5	66460281	66460281	+	Silent	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr5:66460281C>G	ENST00000403625.2	+	29	5569	c.5274C>G	c.(5272-5274)ctC>ctG	p.L1758L	MAST4_ENST00000405643.1_Silent_p.L1579L|MAST4_ENST00000403666.1_Silent_p.L1569L|MAST4_ENST00000261569.7_Silent_p.L1564L|MAST4_ENST00000404260.3_Silent_p.L1761L	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1761						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TTGTTCCCCTCAAGGCCTTAA	0.607																																						uc003jut.1		NaN																	0				lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13						c.(4705-4707)CTC>CTG		microtubule associated serine/threonine kinase							59.0	62.0	61.0					5																	66460281		1918	4119	6037	SO:0001819	synonymous_variant	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66460281C>G	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.5274C>G	5.37:g.66460281C>G						MAST4_uc003juw.2_Silent_p.L1497L|MAST4_uc003jux.2_5'Flank	p.L1569L	NM_015183	NP_055998	O15021	MAST4_HUMAN		Lung(70;0.011)	28	4775	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	1761					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Silent	SNP	ENST00000403625.2	37	c.4707C>G	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	C	6.428	0.447057	0.12223	.	.	ENSG00000069020	ENST00000443808	.	.	.	5.24	3.37	0.38596	.	.	.	.	.	T	0.56108	0.1963	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52533	-0.8563	4	.	.	.	-21.1779	7.4089	0.27006	0.0:0.7166:0.1394:0.144	.	.	.	.	E	815	.	.	Q	+	1	0	MAST4	66496037	0.997000	0.39634	1.000000	0.80357	0.788000	0.44548	0.436000	0.21526	1.373000	0.46208	0.655000	0.94253	CAA		0.607	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2				15	35	0	0	0	0.024245	0	15	35		
OCLN	100506658	broad.mit.edu	37	5	68805528	68805528	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr5:68805528C>G	ENST00000355237.2	+	3	1047	c.611C>G	c.(610-612)tCt>tGt	p.S204C	OCLN_ENST00000542132.1_Intron|OCLN_ENST00000396442.2_Missense_Mutation_p.S204C|OCLN_ENST00000538151.1_Intron|OCLN_ENST00000380766.2_Missense_Mutation_p.S204C	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	204	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				apoptotic process (GO:0006915)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|protein complex assembly (GO:0006461)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethionine metabolic process (GO:0046500)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)|structural molecule activity (GO:0005198)|thiopurine S-methyltransferase activity (GO:0008119)			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GCTCAGTCTTCTGGATCTCTA	0.403																																						uc003jwu.2		NaN																	0					0						c.(610-612)TCT>TGT		occludin							212.0	209.0	210.0					5																	68805528		2203	4300	6503	SO:0001583	missense	4950							g.chr5:68805528C>G	U49184	CCDS4006.1, CCDS54864.1	5q13.1	2014-06-13			ENSG00000197822	ENSG00000197822			8104	protein-coding gene	gene with protein product	"""tight junction protein occludin TM4 minus"", ""phosphatase 1, regulatory subunit 115"""	602876				8601611	Standard	NM_002538		Approved	PPP1R115	uc003jwu.3	Q16625	OTTHUMG00000099356	ENST00000355237.2:c.611C>G	5.37:g.68805528C>G	ENSP00000347379:p.Ser204Cys					OCLN_uc003jwv.3_Missense_Mutation_p.S204C	p.S204C	NM_002538	NP_002529				OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)	3	1047	+		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)						B5BU70|D2DU64|D2DU65|D2IGC0|D2IGC1|E2CYV9|Q5U1V4|Q8N6K1	Missense_Mutation	SNP	ENST00000355237.2	37	c.611C>G	CCDS4006.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.102855	0.56183	.	.	ENSG00000197822	ENST00000355237;ENST00000396442;ENST00000380766	T;T;D	0.85013	0.17;0.17;-1.93	5.81	5.81	0.92471	Marvel (1);MARVEL-like domain (1);	0.097721	0.64402	D	0.000001	D	0.92622	0.7656	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.92912	0.6348	10	0.87932	D	0	-48.7182	18.851	0.92230	0.0:1.0:0.0:0.0	.	204	Q16625	OCLN_HUMAN	C	204	ENSP00000347379:S204C;ENSP00000379719:S204C;ENSP00000370143:S204C	ENSP00000347379:S204C	S	+	2	0	OCLN	68841284	1.000000	0.71417	1.000000	0.80357	0.393000	0.30537	4.886000	0.63149	2.747000	0.94245	0.650000	0.86243	TCT		0.403	OCLN-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216794.1		NM_002538		64	115	0	0	0	0.01441	0	64	115		
WDR41	55255	broad.mit.edu	37	5	76732192	76732192	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr5:76732192C>A	ENST00000296679.4	-	12	1496	c.1121G>T	c.(1120-1122)aGa>aTa	p.R374I	WDR41_ENST00000507029.1_Missense_Mutation_p.R319I|WDR41_ENST00000512033.1_5'Flank|WDR41_ENST00000414719.2_Missense_Mutation_p.R120I	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	374						lysosomal membrane (GO:0005765)				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		TTTGCTGACTCTTCCAAATCC	0.353																																						uc003kff.1		NaN																	0					0						c.(1120-1122)AGA>ATA		WD repeat domain 41							150.0	131.0	137.0					5																	76732192		2203	4300	6503	SO:0001583	missense	55255							g.chr5:76732192C>A	AF115511	CCDS4038.1	5q14	2013-01-09			ENSG00000164253	ENSG00000164253		"""WD repeat domain containing"""	25601	protein-coding gene	gene with protein product						12477932	Standard	NM_018268		Approved	FLJ10904	uc003kff.1	Q9HAD4	OTTHUMG00000102169	ENST00000296679.4:c.1121G>T	5.37:g.76732192C>A	ENSP00000296679:p.Arg374Ile					WDR41_uc011csy.1_Missense_Mutation_p.R316I|WDR41_uc011csz.1_Missense_Mutation_p.R319I	p.R374I	NM_018268	NP_060738	Q9HAD4	WDR41_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)	12	1408	-		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)	374					B4DT55|Q7Z792|Q8IWG3|Q8IXA9|Q8NDA7|Q9NV62	Missense_Mutation	SNP	ENST00000296679.4	37	c.1121G>T	CCDS4038.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.263298	0.59431	.	.	ENSG00000164253	ENST00000296679;ENST00000414719;ENST00000515253;ENST00000507029	T;T;T;T	0.55234	0.53;1.39;0.57;1.85	5.65	4.79	0.61399	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.043799	0.85682	D	0.000000	T	0.44808	0.1311	L	0.34521	1.04	0.80722	D	1	P;P;P	0.45396	0.771;0.771;0.857	B;B;P	0.45971	0.4;0.4;0.499	T	0.25745	-1.0123	10	0.24483	T	0.36	-18.5339	10.677	0.45792	0.0:0.8543:0.0:0.1457	.	319;120;374	B4DT55;B4E2L4;Q9HAD4	.;.;WDR41_HUMAN	I	374;120;309;319	ENSP00000296679:R374I;ENSP00000392931:R120I;ENSP00000426499:R309I;ENSP00000424287:R319I	ENSP00000296679:R374I	R	-	2	0	WDR41	76767948	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.380000	0.44327	1.387000	0.46486	0.563000	0.77884	AGA		0.353	WDR41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220014.2		NM_018268		17	36	1	0	9.16793e-09	0.00499	9.66587e-09	17	36		
ANKRD32	84250	broad.mit.edu	37	5	94030836	94030836	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr5:94030836C>A	ENST00000265140.5	+	21	3415	c.2996C>A	c.(2995-2997)aCc>aAc	p.T999N	ANKRD32_ENST00000493934.1_Intron	NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	999						centrosome (GO:0005813)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		CATAAAGAAACCACCAGTGTT	0.348																																						uc003kkr.3		NaN																	0				ovary(2)	2						c.(2995-2997)ACC>AAC		ankyrin repeat domain 32							66.0	67.0	67.0					5																	94030836		2203	4299	6502	SO:0001583	missense	84250							g.chr5:94030836C>A	AL136560	CCDS4071.2	5q15	2013-01-10			ENSG00000133302	ENSG00000133302		"""Ankyrin repeat domain containing"""	25408	protein-coding gene	gene with protein product			"""BRCT domain containing 1"""	BRCTD1			Standard	NM_032290		Approved	DKFZp761C121, DKFZp564C0469	uc003kkr.4	Q9BQI6	OTTHUMG00000121133	ENST00000265140.5:c.2996C>A	5.37:g.94030836C>A	ENSP00000265140:p.Thr999Asn					ANKRD32_uc003kks.2_Missense_Mutation_p.T363N	p.T999N	NM_032290	NP_115666	Q9BQI6	ANR32_HUMAN		all cancers(79;3.88e-18)	21	3076	+		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)	999					B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Missense_Mutation	SNP	ENST00000265140.5	37	c.2996C>A	CCDS4071.2	.	.	.	.	.	.	.	.	.	.	C	10.46	1.356986	0.24598	.	.	ENSG00000133302	ENST00000265140	T	0.40476	1.03	5.46	4.54	0.55810	.	0.441905	0.22207	N	0.063146	T	0.27489	0.0675	N	0.24115	0.695	0.09310	N	1	B	0.16396	0.017	B	0.09377	0.004	T	0.07770	-1.0755	10	0.31617	T	0.26	.	10.5297	0.44969	0.1322:0.6385:0.2293:0.0	.	999	Q9BQI6	ANR32_HUMAN	N	999	ENSP00000265140:T999N	ENSP00000265140:T999N	T	+	2	0	ANKRD32	94056592	0.001000	0.12720	0.978000	0.43139	0.992000	0.81027	1.019000	0.30014	2.579000	0.87056	0.591000	0.81541	ACC		0.348	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241610.1		NM_032290		11	60	1	0	2.32078e-09	0.024245	2.45468e-09	11	60		
TSLP	85480	broad.mit.edu	37	5	110407681	110407681	+	Silent	SNP	C	C	T	rs148498768	byFrequency	TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr5:110407681C>T	ENST00000344895.3	+	1	292	c.93C>T	c.(91-93)ttC>ttT	p.F31F	TSLP_ENST00000379706.4_5'Flank|TSLP_ENST00000420978.2_Silent_p.F31F	NM_033035.4	NP_149024.1	Q969D9	TSLP_HUMAN	thymic stromal lymphopoietin	31						extracellular space (GO:0005615)				breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)		CTTACGACTTCACTAACTGTG	0.368													C|||	2	0.000399361	0.0	0.0	5008	,	,		18644	0.0		0.002	False		,,,				2504	0.0					uc003kpb.2		NaN																	0					0						c.(91-93)TTC>TTT		thymic stromal lymphopoietin isoform 1		C		2,4402	4.2+/-10.8	0,2,2200	164.0	154.0	157.0		93	3.9	1.0	5	dbSNP_134	157	7,8593	6.4+/-24.3	0,7,4293	no	coding-synonymous	TSLP	NM_033035.4		0,9,6493	TT,TC,CC		0.0814,0.0454,0.0692		31/160	110407681	9,12995	2202	4300	6502	SO:0001819	synonymous_variant	85480					extracellular space	cytokine activity	g.chr5:110407681C>T	BC040592	CCDS4101.1	5q22.1	2007-08-24			ENSG00000145777	ENSG00000145777			30743	protein-coding gene	gene with protein product		607003				11418668, 11480573	Standard	NM_033035		Approved		uc003kpb.2	Q969D9	OTTHUMG00000128791	ENST00000344895.3:c.93C>T	5.37:g.110407681C>T						TSLP_uc003kpa.2_RNA|TSLP_uc010jbt.1_5'Flank	p.F31F	NM_033035	NP_149024	Q969D9	TSLP_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)	1	292	+		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)	31					Q8IW99	Silent	SNP	ENST00000344895.3	37	c.93C>T	CCDS4101.1																																																																																				0.368	TSLP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250717.1		NM_033035		40	44	0	0	0	0.027894	0	40	44		
STARD4	134429	broad.mit.edu	37	5	110835670	110835670	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr5:110835670G>T	ENST00000296632.3	-	6	666	c.532C>A	c.(532-534)Cgt>Agt	p.R178S	STARD4_ENST00000512160.1_3'UTR|STARD4_ENST00000511569.1_5'Flank	NM_139164.1	NP_631903.1	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain containing 4	178	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				lipid transport (GO:0006869)		lipid binding (GO:0008289)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		ATCATCCCACGCAGATCTGTC	0.413																																						uc003kph.1		NaN																	0				ovary(1)	1						c.(532-534)CGT>AGT		StAR-related lipid transfer (START) domain							148.0	140.0	142.0					5																	110835670		2202	4300	6502	SO:0001583	missense	134429				lipid transport		lipid binding	g.chr5:110835670G>T	AF480299	CCDS4104.1	5q22	2011-09-12	2007-08-16		ENSG00000164211	ENSG00000164211		"""StAR-related lipid transfer (START) domain containing"""	18058	protein-coding gene	gene with protein product		607049	"""START domain containing 4, sterol regulated"""			12011452	Standard	NM_139164		Approved		uc003kph.1	Q96DR4	OTTHUMG00000128793	ENST00000296632.3:c.532C>A	5.37:g.110835670G>T	ENSP00000296632:p.Arg178Ser					STARD4_uc010jbw.1_Missense_Mutation_p.R80S|STARD4_uc010jbx.1_Missense_Mutation_p.R80S|STARD4_uc003kpi.1_RNA	p.R178S	NM_139164	NP_631903	Q96DR4	STAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)	6	616	-		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)	178			START.		Q86TN9	Missense_Mutation	SNP	ENST00000296632.3	37	c.532C>A	CCDS4104.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.621723	0.46736	.	.	ENSG00000164211	ENST00000296632;ENST00000505803	T;T	0.41758	0.99;0.99	5.69	3.9	0.45041	Lipid-binding START (2);START-like domain (1);	0.077484	0.53938	D	0.000045	T	0.42607	0.1210	L	0.33137	0.985	0.80722	D	1	D	0.54964	0.969	P	0.56823	0.807	T	0.25047	-1.0143	10	0.41790	T	0.15	-4.0209	7.5598	0.27845	0.1389:0.0:0.7294:0.1317	.	178	Q96DR4	STAR4_HUMAN	S	178	ENSP00000296632:R178S;ENSP00000427478:R178S	ENSP00000296632:R178S	R	-	1	0	STARD4	110863569	0.976000	0.34144	1.000000	0.80357	0.996000	0.88848	1.647000	0.37260	1.423000	0.47198	0.655000	0.94253	CGT		0.413	STARD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250720.1		NM_139164		26	43	1	0	7.92952e-12	0.021523	8.52359e-12	26	43		
SNCAIP	9627	broad.mit.edu	37	5	121759024	121759024	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr5:121759024G>A	ENST00000261368.8	+	4	854	c.592G>A	c.(592-594)Gag>Aag	p.E198K	SNCAIP_ENST00000261367.7_Missense_Mutation_p.E245K|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000379536.2_Missense_Mutation_p.E198K|SNCAIP_ENST00000503116.2_Missense_Mutation_p.E245K|SNCAIP_ENST00000379533.2_Missense_Mutation_p.E245K	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	198					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AGGAAGTTCTGAGAGCTCATC	0.463																																						uc003ksw.1		NaN																	0				ovary(1)|pancreas(1)	2						c.(592-594)GAG>AAG		synuclein alpha interacting protein							95.0	98.0	97.0					5																	121759024		2203	4300	6503	SO:0001583	missense	9627				cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	g.chr5:121759024G>A	AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"""Ankyrin repeat domain containing"""	11139	protein-coding gene	gene with protein product	"""synphilin"""	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.592G>A	5.37:g.121759024G>A	ENSP00000261368:p.Glu198Lys					SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.2_Missense_Mutation_p.E198K|SNCAIP_uc003ksx.1_Missense_Mutation_p.E245K|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Intron|SNCAIP_uc010jcx.1_Missense_Mutation_p.E198K	p.E198K	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)	4	798	+		all_cancers(142;0.00787)|Prostate(80;0.0327)	198					D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	ENST00000261368.8	37	c.592G>A	CCDS4131.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.848216	0.91277	.	.	ENSG00000064692	ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000261367;ENST00000503116	T;T;T;T;T;T	0.13778	4.85;2.59;2.56;4.85;2.56;4.36	5.88	5.88	0.94601	.	0.146071	0.64402	D	0.000008	T	0.29256	0.0728	L	0.34521	1.04	0.80722	D	1	D;D;D;D	0.71674	0.998;0.992;0.99;0.996	D;P;D;P	0.77004	0.989;0.857;0.979;0.874	T	0.00440	-1.1738	9	.	.	.	-31.0039	20.2405	0.98372	0.0:0.0:1.0:0.0	.	198;245;245;198	D6R9G8;Q9Y6H5-6;Q9Y6H5-3;Q9Y6H5	.;.;.;SNCAP_HUMAN	K	198;198;245;198;245;245	ENSP00000422106:E198K;ENSP00000261368:E198K;ENSP00000368848:E245K;ENSP00000368851:E198K;ENSP00000261367:E245K;ENSP00000423199:E245K	.	E	+	1	0	SNCAIP	121786923	1.000000	0.71417	0.920000	0.36463	0.733000	0.41908	7.429000	0.80309	2.797000	0.96272	0.561000	0.74099	GAG		0.463	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1				33	61	0	0	0	0.012213	0	33	61		
FBN2	2201	broad.mit.edu	37	5	127614405	127614405	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr5:127614405C>G	ENST00000508053.1	-	63	8241	c.7267G>C	c.(7267-7269)Gag>Cag	p.E2423Q	FBN2_ENST00000262464.4_Missense_Mutation_p.E2423Q			P35556	FBN2_HUMAN	fibrillin 2	2423	TB 9.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGGCAAAGCTCGCACTGGTGG	0.493																																						uc003kuu.2		NaN																	0				ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(7267-7269)GAG>CAG		fibrillin 2 precursor							106.0	99.0	101.0					5																	127614405		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127614405C>G	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.7267G>C	5.37:g.127614405C>G	ENSP00000424571:p.Glu2423Gln						p.E2423Q	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	57	7706	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	2423			TB 9.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.7267G>C	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502761	0.85176	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.95518	-3.73;-3.73	4.84	4.84	0.62591	Matrix fibril-associated (3);TGF-beta binding (1);	0.000000	0.52532	D	0.000064	D	0.94778	0.8314	M	0.79258	2.445	0.42217	D	0.991837	P	0.35481	0.504	B	0.37943	0.261	D	0.93770	0.7074	10	0.35671	T	0.21	.	13.8368	0.63415	0.0:0.9239:0.0:0.0761	.	2423	P35556	FBN2_HUMAN	Q	2423	ENSP00000262464:E2423Q;ENSP00000424571:E2423Q	ENSP00000262464:E2423Q	E	-	1	0	FBN2	127642304	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.753000	0.62183	2.675000	0.91044	0.650000	0.86243	GAG		0.493	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2		NM_001999		19	46	0	0	0	0.006122	0	19	46		
PCDHB1	29930	broad.mit.edu	37	5	140433360	140433360	+	Missense_Mutation	SNP	C	C	G	rs180731232		TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr5:140433360C>G	ENST00000306549.3	+	1	2382	c.2305C>G	c.(2305-2307)Cgc>Ggc	p.R769G		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	769					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAGTGAGTTTCGCTTTCTTAA	0.463																																						uc003lik.1		NaN																	0					0						c.(2305-2307)CGC>GGC		protocadherin beta 1 precursor							138.0	138.0	138.0					5																	140433360		2203	4300	6503	SO:0001583	missense	29930				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140433360C>G	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.2305C>G	5.37:g.140433360C>G	ENSP00000307234:p.Arg769Gly						p.R769G	NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2382	+			769			Cytoplasmic (Potential).		Q2M257	Missense_Mutation	SNP	ENST00000306549.3	37	c.2305C>G	CCDS4243.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.490518	0.44249	.	.	ENSG00000171815	ENST00000306549	T	0.50001	0.76	5.76	1.78	0.24846	.	0.000000	0.44902	D	0.000406	T	0.39886	0.1095	M	0.64404	1.975	0.21355	N	0.999718	P	0.48911	0.917	B	0.40134	0.32	T	0.37079	-0.9721	10	0.72032	D	0.01	.	6.9346	0.24459	0.4722:0.3954:0.0:0.1324	.	769	Q9Y5F3	PCDB1_HUMAN	G	769	ENSP00000307234:R769G	ENSP00000307234:R769G	R	+	1	0	PCDHB1	140413544	0.000000	0.05858	0.984000	0.44739	0.532000	0.34746	-0.229000	0.09098	0.342000	0.23796	-0.119000	0.15052	CGC		0.463	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2		NM_013340		29	66	0	0	0	0.007291	0	29	66		
PCDHB6	56130	broad.mit.edu	37	5	140530412	140530412	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr5:140530412G>C	ENST00000231136.1	+	1	574	c.574G>C	c.(574-576)Gag>Cag	p.E192Q	PCDHB6_ENST00000543635.1_Missense_Mutation_p.E56Q	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	192	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAGTTCCCGGAGCTGGTGCT	0.617																																						uc003lir.2		NaN																	0				skin(1)	1						c.(574-576)GAG>CAG		protocadherin beta 6 precursor							88.0	92.0	91.0					5																	140530412		2203	4300	6503	SO:0001583	missense	56130				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140530412G>C	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.574G>C	5.37:g.140530412G>C	ENSP00000231136:p.Glu192Gln					PCDHB6_uc011dah.1_Missense_Mutation_p.E56Q	p.E192Q	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	574	+			192			Cadherin 2.|Extracellular (Potential).		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.574G>C	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.159380	0.57368	.	.	ENSG00000113211	ENST00000543635;ENST00000231136	T;T	0.70869	-0.52;1.98	4.7	4.7	0.59300	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.82254	0.4997	M	0.86343	2.81	0.30351	N	0.78481	P	0.50272	0.933	P	0.57057	0.812	T	0.80843	-0.1201	9	0.48119	T	0.1	.	11.3041	0.49325	0.1355:0.0:0.8645:0.0	.	192	Q9Y5E3	PCDB6_HUMAN	Q	56;192	ENSP00000438466:E56Q;ENSP00000231136:E192Q	ENSP00000231136:E192Q	E	+	1	0	PCDHB6	140510596	0.994000	0.37717	0.947000	0.38551	0.940000	0.58332	2.805000	0.47939	2.316000	0.78162	0.561000	0.74099	GAG		0.617	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2		NM_018939		43	62	0	0	0	0.00874	0	43	62		
GABRG2	2566	broad.mit.edu	37	5	161528316	161528316	+	Silent	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr5:161528316C>T	ENST00000361925.4	+	5	844	c.624C>T	c.(622-624)ttC>ttT	p.F208F	GABRG2_ENST00000356592.3_Silent_p.F208F|GABRG2_ENST00000414552.2_Silent_p.F208F|GABRG2_ENST00000393933.4_Silent_p.F113F			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	208					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CCTTGGAGTTCTCCAGTTGTA	0.363																																						uc003lyz.3		NaN																	0				ovary(4)|skin(1)	5						c.(622-624)TTC>TTT		gamma-aminobutyric acid A receptor, gamma 2							100.0	90.0	94.0					5																	161528316		2203	4300	6503	SO:0001819	synonymous_variant	2566				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chr5:161528316C>T		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.624C>T	5.37:g.161528316C>T						GABRG2_uc010jjc.2_Silent_p.F208F|GABRG2_uc003lyy.3_Silent_p.F208F|GABRG2_uc011dej.1_Silent_p.F113F	p.F208F	NM_000816	NP_000807	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	5	982	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	208			Extracellular (Probable).		F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Silent	SNP	ENST00000361925.4	37	c.624C>T	CCDS4358.1																																																																																				0.363	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1				10	11	0	0	0	0.013537	0	10	11		
UNC5A	90249	broad.mit.edu	37	5	176306326	176306326	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr5:176306326G>C	ENST00000329542.4	+	14	2474	c.2200G>C	c.(2200-2202)Gag>Cag	p.E734Q	UNC5A_ENST00000261961.3_Missense_Mutation_p.E694Q	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	734					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGGTTTGCTGAGCTGCTGGC	0.617																																						uc003mey.2		NaN																	0				skin(1)	1						c.(2200-2202)GAG>CAG		netrin receptor Unc5h1 precursor							75.0	84.0	81.0					5																	176306326		2203	4300	6503	SO:0001583	missense	90249				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		g.chr5:176306326G>C	AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"""Immunoglobulin superfamily / I-set domain containing"""	12567	protein-coding gene	gene with protein product		607869	"""unc5 (C.elegans homolog) a"""				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.2200G>C	5.37:g.176306326G>C	ENSP00000332737:p.Glu734Gln						p.E734Q	NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		14	2392	+	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	734			Cytoplasmic (Potential).		B2RXE6|Q8TF26|Q96GP4	Missense_Mutation	SNP	ENST00000329542.4	37	c.2200G>C	CCDS34299.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.866560	0.51588	.	.	ENSG00000113763	ENST00000329542;ENST00000261961	T;T	0.51071	0.72;1.05	5.15	5.15	0.70609	.	0.242057	0.36519	N	0.002545	T	0.40196	0.1107	L	0.36672	1.1	0.48830	D	0.999718	B	0.34103	0.437	B	0.33846	0.171	T	0.20273	-1.0280	10	0.31617	T	0.26	-39.3331	16.5885	0.84745	0.0:0.0:1.0:0.0	.	734	Q6ZN44	UNC5A_HUMAN	Q	734;694	ENSP00000332737:E734Q;ENSP00000261961:E694Q	ENSP00000261961:E694Q	E	+	1	0	UNC5A	176238932	1.000000	0.71417	0.995000	0.50966	0.826000	0.46750	4.937000	0.63513	2.677000	0.91161	0.561000	0.74099	GAG		0.617	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1		XM_030300		25	60	0	0	0	0.024334	0	25	60		
FLT4	2324	broad.mit.edu	37	5	180041110	180041110	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr5:180041110C>T	ENST00000261937.6	-	24	3367	c.3289G>A	c.(3289-3291)Gtg>Atg	p.V1097M	FLT4_ENST00000393347.3_Missense_Mutation_p.V1097M|FLT4_ENST00000502649.1_Missense_Mutation_p.V1097M	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1097	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|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 JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AAGGACCACACGTCACTCTGC	0.622																																					Colon(97;1075 1466 27033 27547 35871)	uc003mma.3		NaN																	0				lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15						c.(3289-3291)GTG>ATG		fms-related tyrosine kinase 4 isoform 2	Sorafenib(DB00398)|Sunitinib(DB01268)						160.0	144.0	150.0					5																	180041110		2203	4300	6503	SO:0001583	missense	2324	Congenital_Hereditary_Lymphedema			positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180041110C>T	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.3289G>A	5.37:g.180041110C>T	ENSP00000261937:p.Val1097Met					FLT4_uc003mlz.3_Missense_Mutation_p.V1097M	p.V1097M	NM_002020	NP_002011	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	24	3368	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	1097			Cytoplasmic (Potential).|Protein kinase.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	c.3289G>A	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.725575	0.89298	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000512795	D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38	3.57	3.57	0.40892	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.92632	0.7659	L	0.53617	1.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.988;0.995	D	0.93621	0.6948	9	0.87932	D	0	.	16.454	0.84007	0.0:1.0:0.0:0.0	.	1097;1097	E9PD35;P35916	.;VGFR3_HUMAN	M	1097;1097;1097;135	ENSP00000261937:V1097M;ENSP00000377016:V1097M;ENSP00000426057:V1097M;ENSP00000421535:V135M	ENSP00000261937:V1097M	V	-	1	0	FLT4	179973716	1.000000	0.71417	0.986000	0.45419	0.996000	0.88848	7.573000	0.82421	2.272000	0.75746	0.542000	0.68232	GTG		0.622	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4				15	36	0	0	0	0.00499	0	15	36		
SERPINB6	5269	broad.mit.edu	37	6	2948867	2948867	+	Missense_Mutation	SNP	C	C	T	rs199796495		TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr6:2948867C>T	ENST00000380520.1	-	6	2790	c.796G>A	c.(796-798)Gag>Aag	p.E266K	SERPINB6_ENST00000335686.5_Missense_Mutation_p.E266K|SERPINB6_ENST00000380539.1_Missense_Mutation_p.E266K|SERPINB6_ENST00000380529.1_Missense_Mutation_p.E266K|SERPINB6_ENST00000380524.1_Missense_Mutation_p.E266K|SERPINB6_ENST00000380546.3_Missense_Mutation_p.E266K			P35237	SPB6_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 6	266					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	ACTTCCACCTCCTCTTCATCC	0.517													C|||	1	0.000199681	0.0	0.0014	5008	,	,		22292	0.0		0.0	False		,,,				2504	0.0					uc003muk.2		NaN																	0					0						c.(796-798)GAG>AAG		serine (or cysteine) proteinase inhibitor, clade	Drotrecogin alfa(DB00055)						229.0	222.0	224.0					6																	2948867		2203	4300	6503	SO:0001583	missense	5269				regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity	g.chr6:2948867C>T	Z22658	CCDS4479.1, CCDS75386.1, CCDS75387.1	6p25.2	2014-02-18	2005-08-18		ENSG00000124570	ENSG00000124570		"""Serine (or cysteine) peptidase inhibitors"""	8950	protein-coding gene	gene with protein product	"""cytoplasmic antiproteinase"""	173321	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 6"", ""deafness, autosomal recessive 91"""	PI6, DFNB91		8415716, 9858835, 20451170, 24172014	Standard	NM_004568		Approved	PTI, CAP	uc031smo.1	P35237	OTTHUMG00000016170	ENST00000380520.1:c.796G>A	6.37:g.2948867C>T	ENSP00000369891:p.Glu266Lys					SERPINB6_uc003mui.2_Missense_Mutation_p.E149K|SERPINB6_uc003muj.2_RNA|SERPINB6_uc003mul.2_Missense_Mutation_p.E266K|SERPINB6_uc003mum.2_Missense_Mutation_p.E266K|SERPINB6_uc003mun.2_Missense_Mutation_p.E266K|SERPINB6_uc003muo.2_Missense_Mutation_p.E266K	p.E266K	NM_004568	NP_004559	P35237	SPB6_HUMAN			6	2791	-	Ovarian(93;0.0412)	all_hematologic(90;0.0895)	266					B2RBA8|Q59F97|Q5TD06|Q7Z2Y7|Q96J44|Q9UDI7	Missense_Mutation	SNP	ENST00000380520.1	37	c.796G>A	CCDS4479.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	10.24	1.295770	0.23564	.	.	ENSG00000124570	ENST00000380524;ENST00000380520;ENST00000335686;ENST00000380529;ENST00000380539;ENST00000380546	D;D;D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85;-1.85;-1.85	5.02	4.15	0.48705	Serpin domain (3);	0.093135	0.64402	N	0.000001	T	0.65739	0.2720	L	0.33624	1.015	0.54753	D	0.99998	B	0.16603	0.018	B	0.20767	0.031	T	0.64106	-0.6485	10	0.31617	T	0.26	.	11.0581	0.47931	0.0:0.8409:0.0:0.1591	.	266	P35237	SPB6_HUMAN	K	266	ENSP00000369896:E266K;ENSP00000369891:E266K;ENSP00000338358:E266K;ENSP00000369901:E266K;ENSP00000369912:E266K;ENSP00000369919:E266K	ENSP00000338358:E266K	E	-	1	0	SERPINB6	2893866	0.066000	0.20996	0.763000	0.31416	0.005000	0.04900	0.579000	0.23788	1.428000	0.47296	-0.343000	0.07986	GAG		0.517	SERPINB6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043422.1				56	122	0	0	0	0.01441	0	56	122		
DSP	1832	broad.mit.edu	37	6	7575714	7575714	+	Missense_Mutation	SNP	G	G	C	rs200338012		TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr6:7575714G>C	ENST00000379802.3	+	18	2964	c.2623G>C	c.(2623-2625)Gac>Cac	p.D875H	DSP_ENST00000418664.2_Missense_Mutation_p.D875H	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	875	Globular 1.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TAAACAGATCGACTTTAGGTA	0.473																																						uc003mxp.1		NaN																	0				central_nervous_system(6)|ovary(2)|skin(1)	9						c.(2623-2625)GAC>CAC		desmoplakin isoform I							79.0	75.0	76.0					6																	7575714		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7575714G>C	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.2623G>C	6.37:g.7575714G>C	ENSP00000369129:p.Asp875His					DSP_uc003mxq.1_Missense_Mutation_p.D875H	p.D875H	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	18	2902	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	875			Globular 1.|Spectrin 2.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.2623G>C	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.835122	0.91117	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	T;T	0.35236	1.32;1.57	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000001	T	0.54581	0.1867	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.985	T	0.51490	-0.8699	10	0.54805	T	0.06	.	20.3437	0.98782	0.0:0.0:1.0:0.0	.	922;875	Q4LE79;P15924	.;DESP_HUMAN	H	875;875;680	ENSP00000369129:D875H;ENSP00000396591:D875H	ENSP00000369129:D875H	D	+	1	0	DSP	7520713	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	7.614000	0.82996	2.815000	0.96918	0.561000	0.74099	GAC		0.473	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2		NM_004415		13	34	0	0	0	0.016723	0	13	34		
HIST1H1C	3006	broad.mit.edu	37	6	26056108	26056108	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr6:26056108C>G	ENST00000343677.2	-	1	591	c.549G>C	c.(547-549)aaG>aaC	p.K183N		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	183					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						TGGCAGCTTTCTTGGGCTTCG	0.552																																						uc003nfw.2		NaN																	0				ovary(3)|skin(2)	5						c.(547-549)AAG>AAC		histone cluster 1, H1c							95.0	103.0	100.0					6																	26056108		2203	4300	6503	SO:0001583	missense	3006				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26056108C>G	X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"""Histones / Replication-dependent"""	4716	protein-coding gene	gene with protein product		142710	"""H1 histone family, member 2"", ""histone 1, H1c"""	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.549G>C	6.37:g.26056108C>G	ENSP00000339566:p.Lys183Asn						p.K183N	NM_005319	NP_005310	P16403	H12_HUMAN			1	592	-			183					A8K4I2	Missense_Mutation	SNP	ENST00000343677.2	37	c.549G>C	CCDS4577.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.456231	0.43634	.	.	ENSG00000187837	ENST00000343677	T	0.27104	1.69	5.31	4.42	0.53409	.	0.000000	0.56097	D	0.000040	T	0.17789	0.0427	N	0.08118	0	0.58432	D	0.999995	D	0.76494	0.999	D	0.80764	0.994	T	0.05835	-1.0861	10	0.41790	T	0.15	-6.1029	10.7742	0.46340	0.0:0.8522:0.0:0.1478	.	183	P16403	H12_HUMAN	N	183	ENSP00000339566:K183N	ENSP00000339566:K183N	K	-	3	2	HIST1H1C	26164087	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	1.497000	0.35649	2.646000	0.89796	0.655000	0.94253	AAG		0.552	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1		NM_005319		30	52	0	0	0	0.007291	0	30	52		
TRIM31	11074	broad.mit.edu	37	6	30080495	30080495	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr6:30080495C>T	ENST00000376734.3	-	2	213	c.88G>A	c.(88-90)Gac>Aac	p.D30N	TRIM31_ENST00000540829.1_Missense_Mutation_p.D30N|TRIM31-AS1_ENST00000440874.1_RNA|TRIM31_ENST00000485864.1_5'Flank	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	30					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral release from host cell (GO:1902186)	mitochondrion (GO:0005739)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						TGCCCACAGTCGATGGTGACA	0.473																																						uc003npg.1		NaN																	0				lung(1)	1						c.(88-90)GAC>AAC		tripartite motif protein 31							108.0	111.0	110.0					6																	30080495		1510	2709	4219	SO:0001583	missense	11074					mitochondrion	ligase activity|zinc ion binding	g.chr6:30080495C>T	AF230386	CCDS34374.1	6p21.3	2013-01-09	2011-01-25		ENSG00000204616	ENSG00000204616		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16289	protein-coding gene	gene with protein product		609316	"""tripartite motif-containing 31"""			11331580	Standard	XM_006714977		Approved	RNF, HCGI, C6orf13, HCG1	uc003npg.1	Q9BZY9	OTTHUMG00000031064	ENST00000376734.3:c.88G>A	6.37:g.30080495C>T	ENSP00000365924:p.Asp30Asn					TRIM31_uc003npi.3_RNA	p.D30N	NM_007028	NP_008959	Q9BZY9	TRI31_HUMAN			2	198	-			30			RING-type.		A6NLX6|A9R9Q4|Q53H52|Q5RI37|Q5SRJ7|Q5SRJ8|Q5SS28|Q96AK4|Q96AP8|Q99579|Q9BZY8	Missense_Mutation	SNP	ENST00000376734.3	37	c.88G>A	CCDS34374.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.375337	0.24857	.	.	ENSG00000204616	ENST00000376734;ENST00000376728;ENST00000540829	T;T	0.06768	3.26;3.26	3.89	-0.255	0.12988	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.448974	0.16547	N	0.209654	T	0.04272	0.0118	N	0.25060	0.705	0.09310	N	1	D	0.65815	0.995	P	0.60886	0.88	T	0.29882	-0.9997	10	0.72032	D	0.01	.	5.4735	0.16682	0.0:0.4998:0.3101:0.1901	.	30	Q9BZY9	TRI31_HUMAN	N	30	ENSP00000365924:D30N;ENSP00000444311:D30N	ENSP00000365918:D30N	D	-	1	0	TRIM31	30188474	0.001000	0.12720	0.006000	0.13384	0.028000	0.11728	-0.144000	0.10280	-0.196000	0.10366	-1.146000	0.01853	GAC		0.473	TRIM31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076081.2				27	57	0	0	0	0.024334	0	27	57		
VARS2	57176	broad.mit.edu	37	6	30891140	30891140	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr6:30891140C>A	ENST00000321897.5	+	24	2956	c.2324C>A	c.(2323-2325)tCc>tAc	p.S775Y	VARS2_ENST00000416670.2_Missense_Mutation_p.S775Y|VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000542001.1_Missense_Mutation_p.S635Y|VARS2_ENST00000541562.1_Missense_Mutation_p.S805Y			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	775					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						CTGTCTCCCTCCTCCCCGATG	0.657																																						uc003nsc.1		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.(2323-2325)TCC>TAC		valyl-tRNA synthetase 2, mitochondrial							48.0	40.0	43.0					6																	30891140		1510	2707	4217	SO:0001583	missense	57176				valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity	g.chr6:30891140C>A	AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	21642	protein-coding gene	gene with protein product	"""valine tRNA ligase 2, mitochondrial"""	612802	"""valyl-tRNA synthetase 2-like"", ""valyl-tRNA synthetase like"", ""valyl-tRNA synthetase 2, mitochondrial (putative)"""	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.2324C>A	6.37:g.30891140C>A	ENSP00000316092:p.Ser775Tyr					VARS2_uc011dmx.1_Missense_Mutation_p.S775Y|VARS2_uc011dmy.1_Missense_Mutation_p.S635Y|VARS2_uc011dmz.1_Missense_Mutation_p.S805Y|VARS2_uc011dna.1_Missense_Mutation_p.S773Y|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_Missense_Mutation_p.S213Y|VARS2_uc010jsg.1_Missense_Mutation_p.S147Y|VARS2_uc010jsh.1_5'UTR	p.S775Y	NM_020442	NP_065175	Q5ST30	SYVM_HUMAN			24	2956	+			775					A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Missense_Mutation	SNP	ENST00000321897.5	37	c.2324C>A	CCDS34387.1	.	.	.	.	.	.	.	.	.	.	C	7.644	0.681585	0.14907	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000541562	T;T;T;T	0.11277	2.79;2.79;2.79;2.79	5.37	3.55	0.40652	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.915817	0.09543	N	0.788021	T	0.04497	0.0123	L	0.51422	1.61	0.09310	N	1	D;B;P;B	0.54047	0.964;0.26;0.606;0.002	P;B;B;B	0.49953	0.627;0.17;0.319;0.004	T	0.09662	-1.0664	10	0.05721	T	0.95	-1.6567	7.5562	0.27824	0.0:0.743:0.1671:0.0899	.	213;773;805;775	Q5ST30-2;B7ZL25;F5GXJ0;Q5ST30	.;.;.;SYVM_HUMAN	Y	775;775;635;805	ENSP00000316092:S775Y;ENSP00000394802:S775Y;ENSP00000438200:S635Y;ENSP00000441000:S805Y	ENSP00000316092:S775Y	S	+	2	0	VARS2	30999119	0.000000	0.05858	0.005000	0.12908	0.281000	0.26958	0.246000	0.18160	0.724000	0.32296	0.558000	0.71614	TCC		0.657	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2		NM_020442		12	30	1	0	1.08611e-07	0.010729	1.13783e-07	12	30		
DNAH8	1769	broad.mit.edu	37	6	38941567	38941567	+	Missense_Mutation	SNP	G	G	A	rs144808884		TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr6:38941567G>A	ENST00000359357.3	+	82	12259	c.12005G>A	c.(12004-12006)cGa>cAa	p.R4002Q	DNAH8_ENST00000441566.1_Missense_Mutation_p.R3966Q			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	4002	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCCCATGATCGATTTCCAATT	0.393													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17017	0.0		0.0	False		,,,				2504	0.0					uc003ooe.1		NaN																	0				skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(12004-12006)CGA>CAA		dynein, axonemal, heavy polypeptide 8		G	GLN/ARG	4,4402	9.9+/-24.2	0,4,2199	101.0	100.0	101.0		12656	5.0	1.0	6	dbSNP_134	101	3,8597	3.0+/-9.4	0,3,4297	yes	missense	DNAH8	NM_001206927.1	43	0,7,6496	AA,AG,GG		0.0349,0.0908,0.0538	benign	4219/4708	38941567	7,12999	2203	4300	6503	SO:0001583	missense	1769							g.chr6:38941567G>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.12005G>A	6.37:g.38941567G>A	ENSP00000352312:p.Arg4002Gln					DNAH8_uc003oog.1_Missense_Mutation_p.R451Q	p.R4002Q	NM_001371	NP_001362					82	12605	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.12005G>A		.	.	.	.	.	.	.	.	.	.	G	6.581	0.475562	0.12521	9.08E-4	3.49E-4	ENSG00000124721	ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.08193	3.12;3.12;3.12	5.99	5.02	0.67125	Dynein heavy chain (1);	0.220393	0.37053	N	0.002276	T	0.00580	0.0019	N	0.00566	-1.37	0.32184	N	0.579962	B;B	0.09022	0.002;0.002	B;B	0.12837	0.004;0.008	T	0.50448	-0.8827	10	0.07325	T	0.83	.	3.9802	0.09492	0.3106:0.0:0.6894:0.0	.	3966;4002	Q96JB1-2;Q96JB1	.;DYH8_HUMAN	Q	4207;4002;3966	ENSP00000333363:R4207Q;ENSP00000352312:R4002Q;ENSP00000402294:R3966Q	ENSP00000333363:R4207Q	R	+	2	0	DNAH8	39049545	0.070000	0.21116	0.993000	0.49108	0.590000	0.36582	2.590000	0.46154	2.840000	0.97914	0.655000	0.94253	CGA		0.393	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1		NM_001206927		12	24	0	0	0	0.016723	0	12	24		
SLC22A7	10864	broad.mit.edu	37	6	43266487	43266487	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr6:43266487G>C	ENST00000372585.5	+	1	486	c.391G>C	c.(391-393)Gag>Cag	p.E131Q	SLC22A7_ENST00000372574.3_Missense_Mutation_p.E131Q|SLC22A7_ENST00000487175.1_3'UTR|SLC22A7_ENST00000372589.3_Missense_Mutation_p.E131Q	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	131					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	CATTGCAACTGAGGTACTTAA	0.527																																						uc003out.2		NaN																	0					0						c.(391-393)GAG>CAG		solute carrier family 22 member 7 isoform b							56.0	58.0	57.0					6																	43266487		2203	4300	6503	SO:0001583	missense	10864					basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	g.chr6:43266487G>C	AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"""Solute carriers"""	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.391G>C	6.37:g.43266487G>C	ENSP00000361666:p.Glu131Gln					SLC22A7_uc010jyl.1_Missense_Mutation_p.E131Q|SLC22A7_uc003ous.2_Missense_Mutation_p.E131Q	p.E131Q	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		1	490	+			131					B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Missense_Mutation	SNP	ENST00000372585.5	37	c.391G>C	CCDS4893.2	.	.	.	.	.	.	.	.	.	.	G	13.98	2.399354	0.42512	.	.	ENSG00000137204	ENST00000449231;ENST00000372589;ENST00000372585;ENST00000372574	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	5.63	4.74	0.60224	Major facilitator superfamily domain (1);	0.107619	0.64402	D	0.000008	T	0.37571	0.1008	L	0.46819	1.47	0.32456	N	0.544703	B;B;B	0.31519	0.327;0.28;0.28	B;B;B	0.41619	0.361;0.31;0.163	T	0.34576	-0.9823	10	0.33940	T	0.23	.	11.738	0.51775	0.0:0.3135:0.6865:0.0	.	131;131;131	Q9Y694;Q9Y694-2;Q9Y694-3	S22A7_HUMAN;.;.	Q	131	ENSP00000411818:E131Q;ENSP00000361670:E131Q;ENSP00000361666:E131Q;ENSP00000361655:E131Q	ENSP00000361655:E131Q	E	+	1	0	SLC22A7	43374465	0.995000	0.38212	0.994000	0.49952	0.948000	0.59901	2.288000	0.43514	2.653000	0.90120	0.563000	0.77884	GAG		0.527	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040588.1				10	24	0	0	0	0.010729	0	10	24		
GRIK2	2898	broad.mit.edu	37	6	102516372	102516372	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr6:102516372G>C	ENST00000421544.1	+	16	3203	c.2713G>C	c.(2713-2715)Gaa>Caa	p.E905Q	GRIK2_ENST00000413795.1_3'UTR|GRIK2_ENST00000369138.1_3'UTR|GRIK2_ENST00000369134.4_Missense_Mutation_p.E856Q|GRIK2_ENST00000369137.3_Missense_Mutation_p.E829Q	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	905					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	GCCAGGTAAAGAAACCATGGC	0.433																																						uc003pqp.3		NaN																	0				ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(2713-2715)GAA>CAA		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						78.0	70.0	73.0					6																	102516372		2203	4300	6503	SO:0001583	missense	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102516372G>C		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.2713G>C	6.37:g.102516372G>C	ENSP00000397026:p.Glu905Gln					GRIK2_uc003pqo.3_3'UTR|GRIK2_uc010kcw.2_3'UTR	p.E905Q	NM_021956	NP_068775	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	16	2962	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	905			Cytoplasmic (Potential).		A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	c.2713G>C	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.481465	0.63849	.	.	ENSG00000164418	ENST00000421544;ENST00000369137;ENST00000369134	T;T;T	0.12465	2.68;2.85;2.7	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.07413	0.0187	L	0.40543	1.245	0.53005	D	0.999967	P	0.36789	0.57	B	0.29598	0.104	T	0.09357	-1.0678	10	0.59425	D	0.04	.	19.5786	0.95455	0.0:0.0:1.0:0.0	.	905	Q13002	GRIK2_HUMAN	Q	905;829;856	ENSP00000397026:E905Q;ENSP00000358133:E829Q;ENSP00000358130:E856Q	ENSP00000358130:E856Q	E	+	1	0	GRIK2	102623065	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.444000	0.97578	2.635000	0.89317	0.462000	0.41574	GAA		0.433	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1				9	25	0	0	0	0.006214	0	9	25		
TPD52L1	7164	broad.mit.edu	37	6	125578274	125578274	+	Silent	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr6:125578274G>A	ENST00000534000.1	+	6	752	c.456G>A	c.(454-456)gaG>gaA	p.E152E	HDDC2_ENST00000608456.1_Intron|TPD52L1_ENST00000530868.1_3'UTR|TPD52L1_ENST00000392482.2_Intron|TPD52L1_ENST00000528193.1_Silent_p.E152E|TPD52L1_ENST00000527711.1_Silent_p.E139E|TPD52L1_ENST00000532429.1_Silent_p.E123E|TPD52L1_ENST00000304877.13_Silent_p.E157E|TPD52L1_ENST00000534199.1_Intron|TPD52L1_ENST00000368402.5_Intron|TPD52L1_ENST00000368388.2_Intron|TPD52L1_ENST00000524679.1_Intron	NM_003287.2	NP_003278.1	Q16890	TPD53_HUMAN	tumor protein D52-like 1	152					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(2)|prostate(1)	5			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		CATTTGAGGAGAGGGTTGAGA	0.443																																						uc003pzu.1		NaN																	0					0						c.(454-456)GAG>GAA		tumor protein D52-like 1 isoform 1							85.0	82.0	83.0					6																	125578274		2203	4300	6503	SO:0001819	synonymous_variant	7164				DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity	g.chr6:125578274G>A	U44427	CCDS5130.1, CCDS34527.1, CCDS34528.1, CCDS43502.1, CCDS75513.1, CCDS75514.1	6q22-q23	2008-07-29			ENSG00000111907	ENSG00000111907			12006	protein-coding gene	gene with protein product		604069				8812487, 16112108	Standard	NM_003287		Approved	D53, hD53	uc003pzu.1	Q16890	OTTHUMG00000015505	ENST00000534000.1:c.456G>A	6.37:g.125578274G>A						TPD52L1_uc003pzv.1_Intron|TPD52L1_uc003pzw.1_Intron|TPD52L1_uc003pzy.1_Silent_p.E123E|TPD52L1_uc003pzz.1_Intron	p.E152E	NM_003287	NP_003278	Q16890	TPD53_HUMAN	LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)	6	675	+			152					A8K757|A8K772|A8MUD2|A8MUJ7|A8MW70|F6V707|O43397|Q5TC99|Q5TDQ0|Q9BUQ6|Q9C054	Silent	SNP	ENST00000534000.1	37	c.456G>A	CCDS5130.1																																																																																				0.443	TPD52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042065.2				8	23	0	0	0	0.004482	0	8	23		
CCDC28A	25901	broad.mit.edu	37	6	139106381	139106381	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr6:139106381G>A	ENST00000332797.6	+	4	765	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	204										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		ATGTTCCATTGAACAGATGGA	0.393																																						uc003qie.2		NaN																	0					0						c.(610-612)GAA>AAA		coiled-coil domain containing 28A							84.0	85.0	84.0					6																	139106381		2203	4300	6503	SO:0001583	missense	25901							g.chr6:139106381G>A	AY167571	CCDS5192.1	6q23.1-q24.1	2008-02-05	2005-09-12	2005-09-12	ENSG00000024862	ENSG00000024862			21098	protein-coding gene	gene with protein product		615353	"""chromosome 6 open reading frame 80"""	C6orf80			Standard	NM_015439		Approved	CCRL1AP, DKFZp586D0623	uc003qie.3	Q8IWP9	OTTHUMG00000015683	ENST00000332797.6:c.610G>A	6.37:g.139106381G>A	ENSP00000332716:p.Glu204Lys						p.E204K	NM_015439	NP_056254	Q8IWP9	CC28A_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)	4	765	+			204					E1P591|Q32NC7|Q66K67|Q96E23|Q9Y430	Missense_Mutation	SNP	ENST00000332797.6	37	c.610G>A	CCDS5192.1	.	.	.	.	.	.	.	.	.	.	G	34	5.378137	0.95945	.	.	ENSG00000024862	ENST00000332797;ENST00000026464	T	0.35973	1.28	5.49	5.49	0.81192	.	0.234048	0.44902	D	0.000419	T	0.54838	0.1883	M	0.82630	2.6	0.58432	D	0.999997	D	0.54964	0.969	P	0.58660	0.843	T	0.61544	-0.7041	10	0.72032	D	0.01	-19.1972	19.3817	0.94540	0.0:0.0:1.0:0.0	.	204	Q8IWP9	CC28A_HUMAN	K	204;91	ENSP00000332716:E204K	ENSP00000026464:E91K	E	+	1	0	CCDC28A	139148074	1.000000	0.71417	0.979000	0.43373	0.998000	0.95712	9.338000	0.96553	2.566000	0.86566	0.655000	0.94253	GAA		0.393	CCDC28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042444.1		NM_015439		34	42	0	0	0	0.012213	0	34	42		
STX11	8676	broad.mit.edu	37	6	144508056	144508056	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr6:144508056G>A	ENST00000367568.4	+	2	475	c.292G>A	c.(292-294)Gag>Aag	p.E98K		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	98					cytotoxic T cell degranulation (GO:0043316)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|natural killer cell degranulation (GO:0043320)|neutrophil degranulation (GO:0043312)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	SNAP receptor activity (GO:0005484)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		GGCCCGGGGCGAGGTCATCCA	0.682									Familial Hemophagocytic Lymphohistiocytosis																													uc003qks.3		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(292-294)GAG>AAG		syntaxin 11							22.0	23.0	22.0					6																	144508056		2201	4300	6501	SO:0001583	missense	8676	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity	g.chr6:144508056G>A	AF044309	CCDS5205.1	6q24.1	2014-09-17			ENSG00000135604	ENSG00000135604			11429	protein-coding gene	gene with protein product		605014				9553086	Standard	NM_003764		Approved		uc003qks.4	O75558	OTTHUMG00000015739	ENST00000367568.4:c.292G>A	6.37:g.144508056G>A	ENSP00000356540:p.Glu98Lys						p.E98K	NM_003764	NP_003755	O75558	STX11_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)	2	484	+			98					E1P598|O75378|O95148|Q5TCL6	Missense_Mutation	SNP	ENST00000367568.4	37	c.292G>A	CCDS5205.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.976666	0.92982	.	.	ENSG00000135604	ENST00000367568	T	0.16457	2.34	5.99	5.12	0.69794	t-SNARE (1);Syntaxin, N-terminal (2);	0.152048	0.56097	D	0.000021	T	0.22589	0.0545	M	0.85197	2.74	0.49687	D	0.999818	P	0.47191	0.891	P	0.45681	0.49	T	0.13791	-1.0496	10	0.59425	D	0.04	-39.6372	17.0795	0.86594	0.0:0.1268:0.8732:0.0	.	98	O75558	STX11_HUMAN	K	98	ENSP00000356540:E98K	ENSP00000356540:E98K	E	+	1	0	STX11	144549749	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.430000	0.73391	1.532000	0.49169	0.655000	0.94253	GAG		0.682	STX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042544.1				13	15	0	0	0	0.013537	0	13	15		
PPP1R14C	81706	broad.mit.edu	37	6	150535916	150535916	+	Missense_Mutation	SNP	G	G	A	rs542434998	byFrequency	TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr6:150535916G>A	ENST00000361131.4	+	2	460	c.343G>A	c.(343-345)Gat>Aat	p.D115N		NM_030949.2	NP_112211.1	Q8TAE6	PP14C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14C	115					regulation of phosphorylation (GO:0042325)	cytoplasm (GO:0005737)|membrane (GO:0016020)	protein serine/threonine phosphatase inhibitor activity (GO:0004865)			endometrium(1)|large_intestine(1)|prostate(1)	3		Ovarian(120;0.0284)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)		TGACATTGATGATCTTCTTGA	0.413																																					Melanoma(165;1879 1941 2052 16588 48349)	uc003qnt.2		NaN																	0					0						c.(343-345)GAT>AAT		protein phosphatase 1, regulatory (inhibitor)							127.0	127.0	127.0					6																	150535916		2203	4300	6503	SO:0001583	missense	81706				regulation of phosphorylation	cytoplasm|membrane		g.chr6:150535916G>A	AF308297	CCDS5226.1	6q24.3-q25.3	2012-04-17			ENSG00000198729	ENSG00000198729		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14952	protein-coding gene	gene with protein product	"""kinase C-enhanced PP1 inhibitor"""	613242				11948623	Standard	NM_030949		Approved	CPI17-like, NY-BR-81, KEPI	uc003qnt.3	Q8TAE6	OTTHUMG00000015818	ENST00000361131.4:c.343G>A	6.37:g.150535916G>A	ENSP00000355260:p.Asp115Asn						p.D115N	NM_030949	NP_112211	Q8TAE6	PP14C_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)	2	484	+		Ovarian(120;0.0284)	115					Q5VY83|Q96BB1|Q9H277	Missense_Mutation	SNP	ENST00000361131.4	37	c.343G>A	CCDS5226.1	.	.	.	.	.	.	.	.	.	.	G	32	5.170511	0.94807	.	.	ENSG00000198729	ENST00000361131	T	0.54279	0.58	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.57110	0.2031	L	0.45137	1.4	0.53688	D	0.999977	D	0.63046	0.992	P	0.60286	0.872	T	0.59511	-0.7441	10	0.72032	D	0.01	-29.0015	18.6126	0.91291	0.0:0.0:1.0:0.0	.	115	Q8TAE6	PP14C_HUMAN	N	115	ENSP00000355260:D115N	ENSP00000355260:D115N	D	+	1	0	PPP1R14C	150577609	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	7.227000	0.78070	2.683000	0.91414	0.655000	0.94253	GAT		0.413	PPP1R14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042685.1		NM_030949		15	53	0	0	0	0.028581	0	15	53		
PARK2	5071	broad.mit.edu	37	6	162622255	162622255	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr6:162622255C>A	ENST00000366898.1	-	4	544	c.442G>T	c.(442-444)Gtg>Ttg	p.V148L	PARK2_ENST00000366892.1_Missense_Mutation_p.V148L|PARK2_ENST00000338468.3_Intron|PARK2_ENST00000366896.1_Intron|PARK2_ENST00000366897.1_Missense_Mutation_p.V148L|PARK2_ENST00000366894.1_5'UTR	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	148					adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		TTGCAATACACATAAAAGCTG	0.458																																						uc003qtx.3		NaN																	0				upper_aerodigestive_tract(1)	1						c.(442-444)GTG>TTG		parkin isoform 1							109.0	104.0	106.0					6																	162622255		2203	4300	6503	SO:0001583	missense	5071				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:162622255C>A		CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"""Parkinson disease"""	8607	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase"""	602544	"""Parkinson disease (autosomal recessive, juvenile) 2, parkin"", ""parkinson protein 2, E3 ubiquitin protein ligase (parkin)"""			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.442G>T	6.37:g.162622255C>A	ENSP00000355865:p.Val148Leu					PARK2_uc003qtv.3_RNA|PARK2_uc010kkd.2_5'UTR|PARK2_uc003qtw.3_Intron|PARK2_uc003qty.3_Missense_Mutation_p.V148L|PARK2_uc003qtz.3_Intron|PARK2_uc010kke.1_Missense_Mutation_p.V148L	p.V148L	NM_004562	NP_004553	O60260	PRKN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)	4	576	-		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)	148					A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Missense_Mutation	SNP	ENST00000366898.1	37	c.442G>T	CCDS5281.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.286611	0.59867	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366892;ENST00000366895	D;D;D	0.95103	-3.37;-3.61;-3.53	5.93	3.14	0.36123	.	0.153400	0.42821	D	0.000658	D	0.92283	0.7552	M	0.84683	2.71	0.09310	N	0.999994	P;P;P	0.52170	0.951;0.934;0.888	P;P;P	0.47162	0.527;0.54;0.54	D	0.87259	0.2278	10	0.72032	D	0.01	.	8.9391	0.35718	0.0:0.7579:0.0:0.2421	.	148;148;148	O60260-5;Q5VVX4;O60260	.;.;PRKN2_HUMAN	L	148;148;148;69	ENSP00000355865:V148L;ENSP00000355863:V148L;ENSP00000355858:V148L	ENSP00000355858:V148L	V	-	1	0	PARK2	162542245	0.996000	0.38824	0.015000	0.15790	0.986000	0.74619	2.509000	0.45459	0.823000	0.34589	0.643000	0.83706	GTG		0.458	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1				9	38	1	0	0.000442599	0.006214	0.000453596	9	38		
PURB	5814	broad.mit.edu	37	7	44924074	44924074	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr7:44924074C>T	ENST00000395699.2	-	1	886	c.874G>A	c.(874-876)Gag>Aag	p.E292K	MIR4657_ENST00000578157.1_RNA|RP4-673M15.1_ENST00000608450.1_RNA	NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	292					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of myeloid cell differentiation (GO:0045637)|transcription, DNA-templated (GO:0006351)	DNA replication factor A complex (GO:0005662)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						CCACGTCGCTCATAAAGCTTA	0.592																																						uc003tme.2		NaN																	0					0						c.(874-876)GAG>AAG		purine-rich element binding protein B							84.0	90.0	88.0					7																	44924074		2203	4300	6503	SO:0001583	missense	5814				regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding	g.chr7:44924074C>T		CCDS5499.1	7p13	2008-07-18			ENSG00000146676	ENSG00000146676			9702	protein-coding gene	gene with protein product		608887				1448097	Standard	NM_033224		Approved	PURBETA	uc003tme.3	Q96QR8	OTTHUMG00000023578	ENST00000395699.2:c.874G>A	7.37:g.44924074C>T	ENSP00000379051:p.Glu292Lys						p.E292K	NM_033224	NP_150093	Q96QR8	PURB_HUMAN			1	887	-			292					A4D2L7	Missense_Mutation	SNP	ENST00000395699.2	37	c.874G>A	CCDS5499.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.207685	0.79240	.	.	ENSG00000146676	ENST00000395699	T	0.31247	1.5	4.45	4.45	0.53987	.	0.084546	0.46145	U	0.000316	T	0.39886	0.1095	N	0.24115	0.695	0.54753	D	0.999985	D	0.63880	0.993	D	0.68192	0.956	T	0.24440	-1.0160	10	0.48119	T	0.1	.	14.983	0.71324	0.0:1.0:0.0:0.0	.	292	Q96QR8	PURB_HUMAN	K	292	ENSP00000379051:E292K	ENSP00000379051:E292K	E	-	1	0	PURB	44890599	0.997000	0.39634	1.000000	0.80357	0.990000	0.78478	4.739000	0.62080	2.465000	0.83290	0.591000	0.81541	GAG		0.592	PURB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251332.2		NM_033224		25	62	0	0	0	0.024334	0	25	62		
ZNF680	340252	broad.mit.edu	37	7	63982867	63982867	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr7:63982867G>C	ENST00000309683.6	-	4	416	c.265C>G	c.(265-267)Cat>Gat	p.H89D	ZNF680_ENST00000476563.1_5'UTR	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	89					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(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				TCAGTGAAATGAGAATATATA	0.289																																						uc003tta.2		NaN																	0				ovary(1)	1						c.(265-267)CAT>GAT		zinc finger protein 680 isoform 1							24.0	25.0	24.0					7																	63982867		2196	4267	6463	SO:0001583	missense	340252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63982867G>C	AK074911	CCDS34644.1, CCDS47594.1	7q11.21	2013-01-08			ENSG00000173041	ENSG00000173041		"""Zinc fingers, C2H2-type"", ""-"""	26897	protein-coding gene	gene with protein product	"""hypothetical protein FLJ90430"""					12477932	Standard	NM_178558		Approved	FLJ90430	uc003tta.2	Q8NEM1	OTTHUMG00000156542	ENST00000309683.6:c.265C>G	7.37:g.63982867G>C	ENSP00000309330:p.His89Asp					ZNF680_uc010kzr.2_Missense_Mutation_p.H16D	p.H89D	NM_178558	NP_848653	Q8NEM1	ZN680_HUMAN			4	438	-		Lung NSC(55;0.118)|all_lung(88;0.243)	89					B3KVJ4|Q6ZNF3|Q8NC79	Missense_Mutation	SNP	ENST00000309683.6	37	c.265C>G	CCDS34644.1	.	.	.	.	.	.	.	.	.	.	g	7.650	0.682807	0.14907	.	.	ENSG00000173041	ENST00000309683	T	0.04862	3.54	0.468	-0.549	0.11829	.	.	.	.	.	T	0.10252	0.0251	M	0.81497	2.545	0.09310	N	1	D	0.53885	0.963	B	0.44224	0.444	T	0.14420	-1.0473	8	0.72032	D	0.01	.	.	.	.	.	89	Q8NEM1	ZN680_HUMAN	D	89	ENSP00000309330:H89D	ENSP00000309330:H89D	H	-	1	0	ZNF680	63620302	0.003000	0.15002	0.005000	0.12908	0.005000	0.04900	-0.433000	0.06948	-0.320000	0.08640	-0.320000	0.08662	CAT		0.289	ZNF680-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344568.1		NM_178558		9	14	0	0	0	0.006214	0	9	14		
POR	5447	broad.mit.edu	37	7	75617241	75617241	+	IGR	SNP	T	T	G	rs35558484		TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr7:75617241T>G	ENST00000461988.1	+	0	2522				TMEM120A_ENST00000493111.2_RNA|TMEM120A_ENST00000338761.4_RNA	NM_000941.2	NP_000932.3	P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase						carnitine metabolic process (GO:0009437)|cellular organofluorine metabolic process (GO:0090346)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to peptide hormone stimulus (GO:0071375)|demethylation (GO:0070988)|fatty acid oxidation (GO:0019395)|flavonoid metabolic process (GO:0009812)|internal peptidyl-lysine acetylation (GO:0018393)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of lipase activity (GO:0060192)|nitrate catabolic process (GO:0043602)|nitric oxide catabolic process (GO:0046210)|oxidation-reduction process (GO:0055114)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|hydrolase activity (GO:0016787)|iron ion binding (GO:0005506)|iron-cytochrome-c reductase activity (GO:0047726)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric oxide dioxygenase activity (GO:0008941)			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Ethylmorphine(DB01466)|Flavin adenine dinucleotide(DB03147)|Lipoic Acid(DB00166)|Mitomycin(DB00305)|Nilutamide(DB00665)|Nitrofurantoin(DB00698)	GGACACTCACTCTGGTACATG	0.612																																						uc003ued.2		NaN																	0					0						c.(691-693)AGC>CGC		transmembrane protein 120A							35.0	39.0	37.0					7																	75617241		1929	4134	6063	SO:0001628	intergenic_variant	83862					integral to membrane		g.chr7:75617241T>G	AF258341	CCDS5579.1	7q11.2	2006-12-05			ENSG00000127948	ENSG00000127948			9208	protein-coding gene	gene with protein product		124015				2516426	Standard	NM_000941		Approved	CYPOR, FLJ26468	uc003udy.3	P16435	OTTHUMG00000130413		7.37:g.75617241T>G						TMEM120A_uc003uee.2_Missense_Mutation_p.E169A|TMEM120A_uc003ueb.1_Missense_Mutation_p.S17R|TMEM120A_uc003uec.2_Missense_Mutation_p.S135R	p.S231R	NM_031925	NP_114131	Q9BXJ8	T120A_HUMAN			9	795	-			231			Cytoplasmic (Potential).		Q16455|Q197M5|Q8N181|Q9H3M8|Q9UDT3	Missense_Mutation	SNP	ENST00000461988.1	37	c.691A>C	CCDS5579.1																																																																																				0.612	POR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252796.7		NM_000941		5	5	0	0	0	0.021553	0	5	5		
PTPN12	5782	broad.mit.edu	37	7	77200497	77200497	+	Silent	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr7:77200497C>T	ENST00000248594.6	+	2	474	c.202C>T	c.(202-204)Ctg>Ttg	p.L68L	PTPN12_ENST00000415482.2_5'UTR|PTPN12_ENST00000435495.2_5'UTR	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	68	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						CAAGGACATACTGCCATGTAA	0.328																																						uc003ugh.2		NaN																	0				ovary(1)|breast(1)|pancreas(1)	3						c.(202-204)CTG>TTG		protein tyrosine phosphatase, non-receptor type							46.0	46.0	46.0					7																	77200497		2201	4292	6493	SO:0001819	synonymous_variant	5782					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding	g.chr7:77200497C>T		CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.202C>T	7.37:g.77200497C>T						PTPN12_uc011kgp.1_5'UTR|PTPN12_uc011kgq.1_5'UTR|PTPN12_uc010ldq.1_RNA|PTPN12_uc010ldr.1_RNA	p.L68L	NM_002835	NP_002826	Q05209	PTN12_HUMAN			2	293	+			68			Tyrosine-protein phosphatase.		A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Silent	SNP	ENST00000248594.6	37	c.202C>T	CCDS5592.1																																																																																				0.328	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3				6	18	0	0	0	0.021553	0	6	18		
OCM2	4951	broad.mit.edu	37	7	97619396	97619396	+	Silent	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr7:97619396G>A	ENST00000257627.4	-	1	112	c.21C>T	c.(19-21)ctC>ctT	p.L7L	OCM2_ENST00000473987.2_5'UTR	NM_006188.3	NP_006179.2	P0CE71	OCM2_HUMAN	oncomodulin 2	7							calcium ion binding (GO:0005509)			lung(4)	4						CATCAGCACTGAGCACGTCCG	0.552																																						uc003upc.2		NaN																	0					0						c.(19-21)CTC>CTT		oncomodulin-like							109.0	94.0	99.0					7																	97619396		2203	4300	6503	SO:0001819	synonymous_variant	4951						calcium ion binding	g.chr7:97619396G>A	BC156841	CCDS5653.1	7q21.2	2014-04-01			ENSG00000135175	ENSG00000135175		"""EF-hand domain containing"""	34396	protein-coding gene	gene with protein product							Standard	NM_006188		Approved		uc003upc.3	P0CE71	OTTHUMG00000154162	ENST00000257627.4:c.21C>T	7.37:g.97619396G>A							p.L7L	NM_006188	NP_006179	P0CE71	OCM2_HUMAN			1	21	-			7					P32930|Q6ISI5|Q75MW0	Silent	SNP	ENST00000257627.4	37	c.21C>T	CCDS5653.1																																																																																				0.552	OCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334188.1		NM_006188		8	23	0	0	0	0.006214	0	8	23		
CNTNAP2	26047	broad.mit.edu	37	7	146805319	146805319	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr7:146805319G>T	ENST00000361727.3	+	5	1147	c.631G>T	c.(631-633)Gtc>Ttc	p.V211F		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	211					adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACTGAAAGATGTCATTGCCTT	0.363										HNSCC(39;0.1)																												uc003weu.1		NaN																	0				ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(631-633)GTC>TTC		cell recognition molecule Caspr2 precursor							126.0	116.0	119.0					7																	146805319		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146805319G>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.631G>T	7.37:g.146805319G>T	ENSP00000354778:p.Val211Phe	HNSCC(39;0.1)					p.V211F	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		5	1147	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	211			Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.631G>T	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.899903	0.91962	.	.	ENSG00000174469	ENST00000361727	T	0.79247	-1.25	6.03	6.03	0.97812	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	0.000000	0.56097	D	0.000040	D	0.82962	0.5151	M	0.72353	2.195	0.80722	D	1	D	0.59357	0.985	P	0.54060	0.741	T	0.77816	-0.2447	10	0.10111	T	0.7	.	19.1533	0.93499	0.0:0.0:1.0:0.0	.	211	Q9UHC6	CNTP2_HUMAN	F	211	ENSP00000354778:V211F	ENSP00000354778:V211F	V	+	1	0	CNTNAP2	146436252	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.363000	0.97131	2.868000	0.98415	0.557000	0.71058	GTC		0.363	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1				19	27	1	0	2.35188e-11	0.006122	2.51987e-11	19	27		
CUL1	8454	broad.mit.edu	37	7	148481129	148481129	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr7:148481129G>A	ENST00000325222.4	+	11	1537	c.1258G>A	c.(1258-1260)Gag>Aag	p.E420K	CUL1_ENST00000602748.1_Missense_Mutation_p.E420K|CUL1_ENST00000409469.1_Missense_Mutation_p.E420K	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	420					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TAAATCCCCTGAGTTGCTGGC	0.418																																						uc010lpg.2		NaN																	0				lung(1)	1						c.(1258-1260)GAG>AAG		cullin 1							127.0	122.0	124.0					7																	148481129		2203	4300	6503	SO:0001583	missense	8454				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr7:148481129G>A	U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.1258G>A	7.37:g.148481129G>A	ENSP00000326804:p.Glu420Lys					CUL1_uc003wey.2_Missense_Mutation_p.E420K|CUL1_uc003wez.2_Missense_Mutation_p.E310K|CUL1_uc003wfa.2_Missense_Mutation_p.E81K	p.E420K	NM_003592	NP_003583	Q13616	CUL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		11	1784	+	Melanoma(164;0.15)		420					D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	ENST00000325222.4	37	c.1258G>A	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	G	35	5.548663	0.96488	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	T;T	0.80994	-1.44;-1.44	4.89	4.89	0.63831	Cullin, N-terminal (1);Cullin homology (2);	0.111213	0.64402	D	0.000006	D	0.92990	0.7769	H	0.95745	3.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95088	0.8219	10	0.87932	D	0	-37.1912	18.418	0.90577	0.0:0.0:1.0:0.0	.	347;420	E7EWR0;Q13616	.;CUL1_HUMAN	K	420;420;378;347	ENSP00000387160:E420K;ENSP00000326804:E420K	ENSP00000326804:E420K	E	+	1	0	CUL1	148112062	1.000000	0.71417	0.919000	0.36401	0.933000	0.57130	9.485000	0.97942	2.421000	0.82119	0.655000	0.94253	GAG		0.418	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1		NM_003592		19	33	0	0	0	0.006122	0	19	33		
ZNF425	155054	broad.mit.edu	37	7	148801438	148801438	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr7:148801438G>C	ENST00000378061.2	-	4	1657	c.1525C>G	c.(1525-1527)Cag>Gag	p.Q509E		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	509					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CGCGACTGCTGAGAAAAGGTC	0.637																																						uc003wfj.2		NaN																	0				breast(2)|ovary(1)	3						c.(1525-1527)CAG>GAG		zinc finger protein 425							50.0	40.0	44.0					7																	148801438		2203	4300	6503	SO:0001583	missense	155054				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr7:148801438G>C	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.1525C>G	7.37:g.148801438G>C	ENSP00000367300:p.Gln509Glu						p.Q509E	NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	1598	-	Melanoma(164;0.15)		509			C2H2-type 11.		B3KPM1|Q08AG3	Missense_Mutation	SNP	ENST00000378061.2	37	c.1525C>G	CCDS34773.1	.	.	.	.	.	.	.	.	.	.	G	9.848	1.193003	0.21954	.	.	ENSG00000204947	ENST00000378061	T	0.15952	2.38	3.08	1.05	0.20165	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15305	0.0369	M	0.63169	1.94	0.09310	N	1	B	0.25772	0.134	B	0.23419	0.046	T	0.29852	-0.9998	9	0.27082	T	0.32	.	4.6862	0.12758	0.1282:0.0:0.6563:0.2155	.	509	Q6IV72	ZN425_HUMAN	E	509	ENSP00000367300:Q509E	ENSP00000367300:Q509E	Q	-	1	0	ZNF425	148432371	0.000000	0.05858	0.002000	0.10522	0.612000	0.37316	-0.443000	0.06862	0.110000	0.17919	0.655000	0.94253	CAG		0.637	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1		XM_088140		8	12	0	0	0	0.004482	0	8	12		
ZNF425	155054	broad.mit.edu	37	7	148802519	148802519	+	Silent	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr7:148802519G>C	ENST00000378061.2	-	4	576	c.444C>G	c.(442-444)ctC>ctG	p.L148L		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	148					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CTGTTTCTCGGAGACTTGGAG	0.458																																						uc003wfj.2		NaN																	0				breast(2)|ovary(1)	3						c.(442-444)CTC>CTG		zinc finger protein 425							126.0	125.0	125.0					7																	148802519		2203	4300	6503	SO:0001819	synonymous_variant	155054				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr7:148802519G>C	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.444C>G	7.37:g.148802519G>C							p.L148L	NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	517	-	Melanoma(164;0.15)		148					B3KPM1|Q08AG3	Silent	SNP	ENST00000378061.2	37	c.444C>G	CCDS34773.1																																																																																				0.458	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1		XM_088140		24	49	0	0	0	0.016522	0	24	49		
ZNF777	27153	broad.mit.edu	37	7	149152911	149152911	+	Missense_Mutation	SNP	G	G	A	rs200019004	byFrequency	TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr7:149152911G>A	ENST00000247930.4	-	2	526	c.203C>T	c.(202-204)tCt>tTt	p.S68F		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	68					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CATCCGGCCAGAAGTCTCTTG	0.577													G|||	2	0.000399361	0.0	0.0029	5008	,	,		16292	0.0		0.0	False		,,,				2504	0.0					uc003wfv.2		NaN																	0				skin(1)	1						c.(202-204)TCT>TTT		zinc finger protein 777							81.0	88.0	86.0					7																	149152911		1895	4116	6011	SO:0001583	missense	27153				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149152911G>A	AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"""Zinc fingers, C2H2-type"", ""-"""	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.203C>T	7.37:g.149152911G>A	ENSP00000247930:p.Ser68Phe						p.S68F	NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		2	366	-	Melanoma(164;0.165)		68					Q8N2R2|Q8N659	Missense_Mutation	SNP	ENST00000247930.4	37	c.203C>T	CCDS43675.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	G	18.07	3.542545	0.65198	.	.	ENSG00000196453	ENST00000247930	T	0.06768	3.26	4.66	4.66	0.58398	.	0.153267	0.30959	N	0.008532	T	0.06508	0.0167	N	0.24115	0.695	0.35302	D	0.783081	D	0.54207	0.965	P	0.48227	0.571	T	0.18493	-1.0335	10	0.62326	D	0.03	-11.3401	13.0836	0.59127	0.0:0.0:1.0:0.0	.	68	Q9ULD5-2	.	F	68	ENSP00000247930:S68F	ENSP00000247930:S68F	S	-	2	0	ZNF777	148783844	0.992000	0.36948	0.999000	0.59377	0.969000	0.65631	2.884000	0.48562	2.146000	0.66826	0.462000	0.41574	TCT		0.577	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1		NM_015694		28	64	0	0	0	0.027356	0	28	64		
GIMAP7	168537	broad.mit.edu	37	7	150217669	150217669	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr7:150217669G>C	ENST00000313543.4	+	2	764	c.607G>C	c.(607-609)Gat>Cat	p.D203H		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	203	AIG1-type G.				GTP catabolic process (GO:0006184)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTACTTTTCTGATGACATATA	0.418																																						uc003whk.2		NaN																	0				pancreas(1)|skin(1)	2						c.(607-609)GAT>CAT		GTPase, IMAP family member 7							90.0	83.0	86.0					7																	150217669		2203	4300	6503	SO:0001583	missense	168537						GTP binding	g.chr7:150217669G>C	BC027613	CCDS5903.1	7q36.1	2014-04-04			ENSG00000179144	ENSG00000179144		"""GTPases, IMAP"""	22404	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 7"""					15474311	Standard	NM_153236		Approved	MGC27027, IAN7	uc003whk.3	Q8NHV1	OTTHUMG00000157626	ENST00000313543.4:c.607G>C	7.37:g.150217669G>C	ENSP00000315474:p.Asp203His						p.D203H	NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	737	+			203						Missense_Mutation	SNP	ENST00000313543.4	37	c.607G>C	CCDS5903.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.431222	0.43122	.	.	ENSG00000179144	ENST00000313543	T	0.62498	0.02	5.09	5.09	0.68999	AIG1 (1);	0.195594	0.43260	N	0.000584	T	0.57770	0.2076	L	0.50919	1.6	0.27375	N	0.955579	B	0.30686	0.29	B	0.32022	0.139	T	0.58853	-0.7563	10	0.56958	D	0.05	.	13.8816	0.63686	0.0:0.0:1.0:0.0	.	203	Q8NHV1	GIMA7_HUMAN	H	203	ENSP00000315474:D203H	ENSP00000315474:D203H	D	+	1	0	GIMAP7	149848602	0.004000	0.15560	0.275000	0.24674	0.057000	0.15508	0.879000	0.28146	2.672000	0.90937	0.655000	0.94253	GAT		0.418	GIMAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349277.1		NM_153236		19	35	0	0	0	0.006122	0	19	35		
WDR60	55112	broad.mit.edu	37	7	158663923	158663923	+	Missense_Mutation	SNP	G	G	A	rs369170471		TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr7:158663923G>A	ENST00000407559.3	+	3	318	c.160G>A	c.(160-162)Gag>Aag	p.E54K		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	54					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TGAACATAAGGAGCCGAGGTG	0.557																																						uc003woe.3		NaN																	0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(160-162)GAG>AAG		WD repeat domain 60							52.0	59.0	56.0					7																	158663923		2052	4200	6252	SO:0001583	missense	55112							g.chr7:158663923G>A		CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"""WD repeat domain containing"""	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.160G>A	7.37:g.158663923G>A	ENSP00000384290:p.Glu54Lys						p.E54K	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)	3	318	+	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	54					Q9NW58	Missense_Mutation	SNP	ENST00000407559.3	37	c.160G>A	CCDS47757.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.093177	0.56075	.	.	ENSG00000126870	ENST00000407559;ENST00000397143	T;T	0.57107	1.45;0.42	5.0	5.0	0.66597	.	0.476273	0.21450	N	0.074343	T	0.47414	0.1444	L	0.43152	1.355	0.09310	N	0.999998	P	0.46784	0.884	B	0.41466	0.358	T	0.51060	-0.8753	10	0.62326	D	0.03	-29.3802	14.1873	0.65614	0.0:0.0:1.0:0.0	.	54	Q8WVS4	WDR60_HUMAN	K	54;64	ENSP00000384290:E54K;ENSP00000380330:E64K	ENSP00000380330:E64K	E	+	1	0	WDR60	158356684	0.945000	0.32115	0.079000	0.20413	0.005000	0.04900	2.908000	0.48750	2.482000	0.83794	0.655000	0.94253	GAG		0.557	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1		NM_018051		8	12	0	0	0	0.004482	0	8	12		
MTUS1	57509	broad.mit.edu	37	8	17507472	17507472	+	Splice_Site	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr8:17507472C>T	ENST00000262102.6	-	13	3609		c.e13-1		MTUS1_ENST00000519263.1_Splice_Site|MTUS1_ENST00000400046.1_Splice_Site|MTUS1_ENST00000297488.6_Splice_Site|MTUS1_ENST00000518713.1_Splice_Site|MTUS1_ENST00000544260.1_Splice_Site|MTUS1_ENST00000381869.3_Splice_Site|MTUS1_ENST00000381861.3_Splice_Site	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1						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)		GAGGATTTTTCTGGAAAGGAC	0.368																																						uc003wxv.2		NaN																	0				ovary(1)|skin(1)	2						c.e13-1		mitochondrial tumor suppressor 1 isoform 1							143.0	127.0	132.0					8																	17507472		1861	4093	5954	SO:0001630	splice_region_variant	57509					Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		g.chr8:17507472C>T	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.3385-1G>A	8.37:g.17507472C>T						MTUS1_uc003wxt.2_Splice_Site_p.K376_splice|MTUS1_uc011kyg.1_Splice_Site_p.K274_splice|MTUS1_uc010lsy.2_Splice_Site|MTUS1_uc003wxw.2_Splice_Site_p.K1075_splice|MTUS1_uc003wxs.2_Splice_Site_p.K295_splice	p.K1129_splice	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN		Colorectal(111;0.0778)	13	3859	-								A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Splice_Site	SNP	ENST00000262102.6	37	c.3385_splice	CCDS43717.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.437073	0.62955	.	.	ENSG00000129422	ENST00000381869;ENST00000544260;ENST00000400046;ENST00000297488;ENST00000381861;ENST00000262102;ENST00000519263	.	.	.	5.41	4.47	0.54385	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9488	0.79817	0.0:0.8651:0.1349:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MTUS1	17551752	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.569000	0.60865	2.712000	0.92718	0.557000	0.71058	.		0.368	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1		XM_372031	Intron	33	15	0	0	0	0.010818	0	33	15		
KAT6A	7994	broad.mit.edu	37	8	41790517	41790517	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr8:41790517C>A	ENST00000396930.3	-	18	5764	c.5221G>T	c.(5221-5223)Gcc>Tcc	p.A1741S	KAT6A_ENST00000406337.1_Missense_Mutation_p.A1741S|KAT6A_ENST00000265713.2_Missense_Mutation_p.A1741S	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1741	Interaction with PML.				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)										TAGCTGCCGGCACCAAAATCC	0.498																																						uc010lxb.2		NaN																	0				ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(5221-5223)GCC>TCC		MYST histone acetyltransferase (monocytic							162.0	164.0	163.0					8																	41790517		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.chr8:41790517C>A	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.5221G>T	8.37:g.41790517C>A	ENSP00000380136:p.Ala1741Ser					MYST3_uc010lxc.2_Missense_Mutation_p.A1741S|MYST3_uc003xon.3_Missense_Mutation_p.A1741S	p.A1741S	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	5765	-	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)	1741					Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	c.5221G>T	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.663772	0.29515	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930	T;T;T	0.61742	0.08;0.08;0.08	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000001	T	0.43612	0.1255	N	0.14661	0.345	0.40581	D	0.981397	P	0.49185	0.92	B	0.40825	0.341	T	0.38887	-0.9640	10	0.25751	T	0.34	-14.449	19.69	0.95996	0.0:1.0:0.0:0.0	.	1741	Q92794	KAT6A_HUMAN	S	1741	ENSP00000265713:A1741S;ENSP00000385888:A1741S;ENSP00000380136:A1741S	ENSP00000265713:A1741S	A	-	1	0	KAT6A	41909674	1.000000	0.71417	0.998000	0.56505	0.940000	0.58332	4.536000	0.60636	2.643000	0.89663	0.650000	0.86243	GCC		0.498	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1		NM_006766		34	75	1	0	8.88839e-20	0.010818	9.61695e-20	34	75		
STK3	6788	broad.mit.edu	37	8	99468130	99468130	+	Silent	SNP	C	C	T	rs367741859		TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr8:99468130C>T	ENST00000419617.2	-	11	1556	c.1416G>A	c.(1414-1416)gcG>gcA	p.A472A	STK3_ENST00000523601.1_Silent_p.A500A	NM_006281.3	NP_006272.2	Q13188	STK3_HUMAN	serine/threonine kinase 3	472	SARAH. {ECO:0000255|PROSITE- ProRule:PRU00310}.				apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		GCTGTCTTTTCGCAGTGTATC	0.408																																						uc003yip.2		NaN																	0				lung(3)|ovary(1)	4						c.(1414-1416)GCG>GCA		serine/threonine kinase 3		C		0,3786		0,0,1893	132.0	123.0	126.0		1416	-11.0	0.0	8		126	1,8241		0,1,4120	no	coding-synonymous	STK3	NM_006281.2		0,1,6013	TT,TC,CC		0.0121,0.0,0.0083		472/492	99468130	1,12027	1893	4121	6014	SO:0001819	synonymous_variant	6788				apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity	g.chr8:99468130C>T	BC010640	CCDS47900.1, CCDS59108.1, CCDS75774.1	8q22.2	2011-05-24	2010-06-25		ENSG00000104375	ENSG00000104375			11406	protein-coding gene	gene with protein product		605030	"""serine/threonine kinase 3 (Ste20, yeast homolog)"""			8816758	Standard	NM_006281		Approved	MST2, KRS1	uc003yip.4	Q13188	OTTHUMG00000164651	ENST00000419617.2:c.1416G>A	8.37:g.99468130C>T						STK3_uc003yio.2_Silent_p.A500A	p.A472A	NM_006281	NP_006272	Q13188	STK3_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)	11	1557	-	Breast(36;2.4e-06)	Breast(495;0.106)	472			SARAH.|Potential.		A8K722|B3KYA7|Q15445|Q15801|Q96FM6	Silent	SNP	ENST00000419617.2	37	c.1416G>A	CCDS47900.1																																																																																				0.408	STK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379635.1		NM_006281		9	11	0	0	0	0.006214	0	9	11		
ZNF706	51123	broad.mit.edu	37	8	102213947	102213947	+	Missense_Mutation	SNP	A	A	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr8:102213947A>T	ENST00000520347.1	-	2	2979	c.23T>A	c.(22-24)aTt>aAt	p.I8N	ZNF706_ENST00000518336.1_Missense_Mutation_p.I8N|ZNF706_ENST00000517844.1_Missense_Mutation_p.I8N|ZNF706_ENST00000520984.1_Missense_Mutation_p.I8N|ZNF706_ENST00000521272.1_Missense_Mutation_p.I8N|ZNF706_ENST00000519882.1_Missense_Mutation_p.I8N|ZNF706_ENST00000311212.4_Missense_Mutation_p.I8N|ZNF706_ENST00000519744.1_Missense_Mutation_p.I8N			Q9Y5V0	ZN706_HUMAN	zinc finger protein 706	8							metal ion binding (GO:0046872)			large_intestine(1)|ovary(2)	3	all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117)		Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05)			CTGAGACTGAATTTTCTGCTG	0.393																																						uc003yka.2		NaN																	0				ovary(2)	2						c.(22-24)ATT>AAT		HSPC038 protein							91.0	82.0	85.0					8																	102213947		2203	4300	6503	SO:0001583	missense	51123					intracellular	zinc ion binding	g.chr8:102213947A>T	AF125099	CCDS6291.1	8q22.3	2005-09-22				ENSG00000120963			24992	protein-coding gene	gene with protein product						11042152	Standard	NM_001042510		Approved	HSPC038	uc031tbv.1	Q9Y5V0		ENST00000520347.1:c.23T>A	8.37:g.102213947A>T	ENSP00000430823:p.Ile8Asn					ZNF706_uc003ykb.2_Missense_Mutation_p.I8N	p.I8N	NM_001042510	NP_001035975	Q9Y5V0	ZN706_HUMAN	Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05)		3	438	-	all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117)		8					A8K362	Missense_Mutation	SNP	ENST00000520347.1	37	c.23T>A	CCDS6291.1	.	.	.	.	.	.	.	.	.	.	A	19.80	3.895185	0.72639	.	.	ENSG00000120963	ENST00000520984;ENST00000311212;ENST00000519744;ENST00000517844;ENST00000520347;ENST00000519882;ENST00000521272;ENST00000518336;ENST00000523922;ENST00000520454	.	.	.	5.39	5.39	0.77823	.	0.098661	0.64402	D	0.000002	T	0.46927	0.1418	.	.	.	0.80722	D	1	P	0.45569	0.861	B	0.36567	0.228	T	0.55798	-0.8084	8	0.87932	D	0	-7.7891	15.4421	0.75190	1.0:0.0:0.0:0.0	.	8	Q9Y5V0	ZN706_HUMAN	N	8	.	ENSP00000311768:I8N	I	-	2	0	ZNF706	102283123	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.339000	0.96797	2.054000	0.61138	0.533000	0.62120	ATT		0.393	ZNF706-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380477.1		NM_016096		12	25	0	0	0	0.020292	0	12	25		
ZNF706	51123	broad.mit.edu	37	8	102213962	102213962	+	Missense_Mutation	SNP	C	C	G	rs202198915	byFrequency	TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr8:102213962C>G	ENST00000520347.1	-	2	2964	c.8G>C	c.(7-9)cGt>cCt	p.R3P	ZNF706_ENST00000518336.1_Missense_Mutation_p.R3P|ZNF706_ENST00000517844.1_Missense_Mutation_p.R3P|ZNF706_ENST00000520984.1_Missense_Mutation_p.R3P|ZNF706_ENST00000521272.1_Missense_Mutation_p.R3P|ZNF706_ENST00000519882.1_Missense_Mutation_p.R3P|ZNF706_ENST00000311212.4_Missense_Mutation_p.R3P|ZNF706_ENST00000519744.1_Missense_Mutation_p.R3P			Q9Y5V0	ZN706_HUMAN	zinc finger protein 706	3							metal ion binding (GO:0046872)	p.R3P(2)		large_intestine(1)|ovary(2)	3	all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117)		Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05)			CTGCTGTCCACGAGCCATATC	0.398																																						uc003yka.2		NaN																	2	Substitution - Missense(2)	p.R3P(2)	ovary(2)	ovary(2)	2						c.(7-9)CGT>CCT		HSPC038 protein							66.0	63.0	64.0					8																	102213962		2203	4300	6503	SO:0001583	missense	51123					intracellular	zinc ion binding	g.chr8:102213962C>G	AF125099	CCDS6291.1	8q22.3	2005-09-22				ENSG00000120963			24992	protein-coding gene	gene with protein product						11042152	Standard	NM_001042510		Approved	HSPC038	uc031tbv.1	Q9Y5V0		ENST00000520347.1:c.8G>C	8.37:g.102213962C>G	ENSP00000430823:p.Arg3Pro					ZNF706_uc003ykb.2_Missense_Mutation_p.R3P	p.R3P	NM_001042510	NP_001035975	Q9Y5V0	ZN706_HUMAN	Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05)		3	423	-	all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117)		3					A8K362	Missense_Mutation	SNP	ENST00000520347.1	37	c.8G>C	CCDS6291.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.171479	0.57584	.	.	ENSG00000120963	ENST00000520984;ENST00000311212;ENST00000519744;ENST00000517844;ENST00000520347;ENST00000519882;ENST00000521272;ENST00000518336;ENST00000523922;ENST00000520454	.	.	.	5.39	3.58	0.41010	.	0.000000	0.85682	D	0.000000	T	0.45498	0.1345	.	.	.	0.80722	D	1	P	0.35944	0.529	B	0.27796	0.083	T	0.52704	-0.8540	8	0.87932	D	0	-0.2165	12.1205	0.53889	0.0:0.8596:0.0:0.1404	.	3	Q9Y5V0	ZN706_HUMAN	P	3	.	ENSP00000311768:R3P	R	-	2	0	ZNF706	102283138	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.963000	0.63694	1.292000	0.44672	0.655000	0.94253	CGT		0.398	ZNF706-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380477.1		NM_016096		8	19	0	0	0	0.028581	0	8	19		
ATAD2	29028	broad.mit.edu	37	8	124371477	124371477	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr8:124371477T>A	ENST00000287394.5	-	11	1473	c.1366A>T	c.(1366-1368)Aaa>Taa	p.K456*	ATAD2_ENST00000521903.1_5'UTR|ATAD2_ENST00000534257.1_5'Flank	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	456					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GGTTGAATTTTAAATTTTTCA	0.323																																						uc003yqh.3		NaN																	0				ovary(2)	2						c.(1366-1368)AAA>TAA		ATPase family, AAA domain containing 2							62.0	68.0	66.0					8																	124371477		2186	4297	6483	SO:0001587	stop_gained	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124371477T>A	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.1366A>T	8.37:g.124371477T>A	ENSP00000287394:p.Lys456*					ATAD2_uc011lii.1_Nonsense_Mutation_p.K247*|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Nonsense_Mutation_p.K456*	p.K456*	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		11	1474	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		456					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Nonsense_Mutation	SNP	ENST00000287394.5	37	c.1366A>T	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	T	36	5.884627	0.97062	.	.	ENSG00000156802	ENST00000287394	.	.	.	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.2999	14.6458	0.68759	0.0:0.0:0.0:1.0	.	.	.	.	X	456	.	ENSP00000287394:K456X	K	-	1	0	ATAD2	124440658	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.967000	0.87967	1.862000	0.54008	0.402000	0.26972	AAA		0.323	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2		NM_014109		25	41	0	0	0	0.024334	0	25	41		
PLEC	5339	broad.mit.edu	37	8	144993273	144993273	+	Silent	SNP	G	G	A	rs34365303	byFrequency	TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr8:144993273G>A	ENST00000322810.4	-	32	11296	c.11127C>T	c.(11125-11127)atC>atT	p.I3709I	PLEC_ENST00000398774.2_Silent_p.I3540I|PLEC_ENST00000354589.3_Silent_p.I3572I|PLEC_ENST00000527096.1_Silent_p.I3595I|PLEC_ENST00000436759.2_Silent_p.I3599I|PLEC_ENST00000357649.2_Silent_p.I3576I|PLEC_ENST00000356346.3_Silent_p.I3558I|PLEC_ENST00000354958.2_Silent_p.I3550I|PLEC_ENST00000345136.3_Silent_p.I3572I	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3709	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGGGAATGTCGATCTGTGTCT	0.632													A|||	2	0.000399361	0.0	0.0	5008	,	,		16994	0.001		0.0	False		,,,				2504	0.001					uc003zaf.1		NaN																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(11125-11127)ATC>ATT		plectin isoform 1		A	,,,,,,,	0,4204		0,0,2102	72.0	88.0	83.0		10797,10674,10650,11127,10620,10716,10728,10716	-1.2	0.9	8	dbSNP_126	83	5,8427		0,5,4211	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	0,5,6313	AA,AG,GG		0.0593,0.0,0.0396	,,,,,,,	3599/4575,3558/4534,3550/4526,3709/4685,3540/4516,3572/4548,3576/4552,3572/4548	144993273	5,12631	2102	4216	6318	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144993273G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.11127C>T	8.37:g.144993273G>A						PLEC_uc003zab.1_Silent_p.I3572I|PLEC_uc003zac.1_Silent_p.I3576I|PLEC_uc003zad.2_Silent_p.I3572I|PLEC_uc003zae.1_Silent_p.I3540I|PLEC_uc003zag.1_Silent_p.I3550I|PLEC_uc003zah.2_Silent_p.I3558I|PLEC_uc003zaj.2_Silent_p.I3599I	p.I3709I	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	11297	-			3709			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.11127C>T	CCDS43772.1																																																																																				0.632	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1		NM_000445		7	150	0	0	0	0.004482	0	7	150		
FBXO10	26267	broad.mit.edu	37	9	37537289	37537289	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr9:37537289C>G	ENST00000432825.2	-	3	1285	c.1237G>C	c.(1237-1239)Gag>Cag	p.E413Q	FBXO10_ENST00000543968.1_5'Flank|FBXO10_ENST00000541829.1_Intron|RP11-613M10.8_ENST00000544475.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	413					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		TTCTGCAGCTCCTGCTGCAGT	0.627																																						uc004aab.2		NaN																	0				lung(5)	5						c.(1237-1239)GAG>CAG		F-box protein 10							25.0	27.0	26.0					9																	37537289		1993	4179	6172	SO:0001583	missense	26267					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr9:37537289C>G	AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912		"""F-boxes /  ""other"""""	13589	protein-coding gene	gene with protein product		609092	"""F-box only protein 10"""			10531035, 10531037, 19300908	Standard	NM_012166		Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.1237G>C	9.37:g.37537289C>G	ENSP00000403802:p.Glu413Gln					FBXO10_uc004aac.2_Missense_Mutation_p.E429Q|FBXO10_uc004aad.2_Intron	p.E413Q	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN		GBM - Glioblastoma multiforme(29;0.0107)	3	1286	-			413					Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Missense_Mutation	SNP	ENST00000432825.2	37	c.1237G>C	CCDS47966.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.548411	0.86127	.	.	ENSG00000147912	ENST00000432825	T	0.52057	0.68	5.46	5.46	0.80206	Carbohydrate-binding/sugar hydrolysis domain (1);	0.000000	0.85682	D	0.000000	T	0.59018	0.2163	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.60865	-0.7178	10	0.56958	D	0.05	-32.1297	18.0735	0.89419	0.0:1.0:0.0:0.0	.	413	Q9UK96	FBX10_HUMAN	Q	413	ENSP00000403802:E413Q	ENSP00000276960:E413Q	E	-	1	0	FBXO10	37527289	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.813000	0.69201	2.543000	0.85770	0.655000	0.94253	GAG		0.627	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052472.3				10	1	0	0	0	0.006214	0	10	1		
NTRK2	4915	broad.mit.edu	37	9	87482169	87482169	+	Missense_Mutation	SNP	G	G	A	rs201028496		TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr9:87482169G>A	ENST00000323115.4	+	12	1761	c.1408G>A	c.(1408-1410)Gtt>Att	p.V470I	NTRK2_ENST00000376208.1_Missense_Mutation_p.V470I|NTRK2_ENST00000376214.1_Missense_Mutation_p.V486I|NTRK2_ENST00000277120.3_Missense_Mutation_p.V486I|NTRK2_ENST00000304053.6_Missense_Mutation_p.V486I|NTRK2_ENST00000376213.1_Missense_Mutation_p.V470I			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	470					activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	CCCAGCCTCCGTTATCAGCAA	0.413										TSP Lung(25;0.17)																												uc004aoa.1		NaN																	0				lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16						c.(1408-1410)GTT>ATT		neurotrophic tyrosine kinase, receptor, type 2							91.0	80.0	83.0					9																	87482169		2203	4300	6503	SO:0001583	missense	4915				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity	g.chr9:87482169G>A	AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.1408G>A	9.37:g.87482169G>A	ENSP00000314586:p.Val470Ile	TSP Lung(25;0.17)				NTRK2_uc004any.1_Missense_Mutation_p.V470I|NTRK2_uc004anz.1_Missense_Mutation_p.V486I|NTRK2_uc011lsz.1_Missense_Mutation_p.V486I|NTRK2_uc011lta.1_Missense_Mutation_p.V470I|NTRK2_uc004aoc.2_Missense_Mutation_p.V21I	p.V470I	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN			15	2346	+			470			Cytoplasmic (Potential).		B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Missense_Mutation	SNP	ENST00000323115.4	37	c.1408G>A	CCDS35050.1	.	.	.	.	.	.	.	.	.	.	G	34	5.293711	0.95546	.	.	ENSG00000148053	ENST00000376214;ENST00000376213;ENST00000376208;ENST00000304053;ENST00000277120;ENST00000323115	T;T;T;T;T;T	0.78364	-0.88;-0.85;-0.83;-1.17;-0.88;-0.85	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	D	0.89326	0.6683	M	0.80183	2.485	0.80722	D	1	D;D;D;D;D;D	0.89917	0.994;1.0;0.992;1.0;1.0;0.999	P;D;D;D;D;D	0.87578	0.873;0.998;0.952;0.994;0.997;0.972	D	0.88949	0.3385	10	0.56958	D	0.05	.	20.2566	0.98424	0.0:0.0:1.0:0.0	.	470;486;40;470;486;516	Q16620-3;Q16620-5;Q8WXJ8;Q16620;Q16620-4;Q59GJ1	.;.;.;NTRK2_HUMAN;.;.	I	486;470;470;486;486;470	ENSP00000365387:V486I;ENSP00000365386:V470I;ENSP00000365381:V470I;ENSP00000306167:V486I;ENSP00000277120:V486I;ENSP00000314586:V470I	ENSP00000277120:V486I	V	+	1	0	NTRK2	86671989	1.000000	0.71417	0.997000	0.53966	0.961000	0.63080	9.476000	0.97823	2.793000	0.96121	0.561000	0.74099	GTT		0.413	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1				24	43	0	0	0	0.016522	0	24	43		
ZCCHC6	79670	broad.mit.edu	37	9	88938224	88938224	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr9:88938224C>G	ENST00000375963.3	-	13	2613	c.2441G>C	c.(2440-2442)gGa>gCa	p.G814A	ZCCHC6_ENST00000375961.2_Missense_Mutation_p.G814A|ZCCHC6_ENST00000277141.6_Missense_Mutation_p.G103A|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.G691A|ZCCHC6_ENST00000469004.1_5'Flank	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	814					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TGTACTTTCTCCATCAAGATC	0.438																																						uc004aoq.2		NaN																	0				ovary(2)	2						c.(2440-2442)GGA>GCA		zinc finger, CCHC domain containing 6							123.0	113.0	117.0					9																	88938224		2203	4300	6503	SO:0001583	missense	79670				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding	g.chr9:88938224C>G	AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.2441G>C	9.37:g.88938224C>G	ENSP00000365130:p.Gly814Ala					ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Missense_Mutation_p.G691A|ZCCHC6_uc004aou.2_Missense_Mutation_p.G814A	p.G814A	NM_024617	NP_078893	Q5VYS8	TUT7_HUMAN			13	2656	-			814					Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	37	c.2441G>C	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	C	4.050	0.006884	0.07866	.	.	ENSG00000083223	ENST00000277141;ENST00000375960;ENST00000375961;ENST00000375963	T;T;T;T	0.54071	0.59;0.98;0.99;1.0	4.74	-1.76	0.08006	.	0.310760	0.39083	N	0.001478	T	0.24275	0.0588	N	0.08118	0	0.22610	N	0.998932	B;B	0.15930	0.015;0.003	B;B	0.11329	0.006;0.005	T	0.08330	-1.0727	10	0.39692	T	0.17	-56.2056	5.1781	0.15146	0.1227:0.2973:0.0:0.58	.	691;814	Q5VYS8-4;Q5VYS8	.;TUT7_HUMAN	A	103;691;814;814	ENSP00000277141:G103A;ENSP00000365127:G691A;ENSP00000365128:G814A;ENSP00000365130:G814A	ENSP00000277141:G103A	G	-	2	0	ZCCHC6	88128044	0.996000	0.38824	0.237000	0.24090	0.050000	0.14768	1.267000	0.33050	-0.205000	0.10219	-0.482000	0.04802	GGA		0.438	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1		NM_024617		28	62	0	0	0	0.007291	0	28	62		
SPATA31C1	441452	broad.mit.edu	37	9	90537046	90537046	+	RNA	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr9:90537046C>G	ENST00000602681.1	+	0	1927							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GGCCTCCTCACCTGCATGTAA	0.577																																						uc010mqi.2		NaN																	0					0						c.(2224-2226)CCT>GCT		family with sequence similarity 75, member C1							12.0	13.0	13.0					9																	90537046		692	1591	2283			441452							g.chr9:90537046C>G	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90537046C>G						FAM75C1_uc004apq.3_Missense_Mutation_p.P725A	p.P742A	NM_001145124	NP_001138596					4	2253	+									Missense_Mutation	SNP	ENST00000602681.1	37	c.2224C>G																																																																																					0.577	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1		NM_001145124		16	39	0	0	0	0.00499	0	16	39		
NR4A3	8013	broad.mit.edu	37	9	102590462	102590462	+	Silent	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr9:102590462G>A	ENST00000395097.2	+	3	867	c.138G>A	c.(136-138)gaG>gaA	p.E46E	NR4A3_ENST00000338488.4_Silent_p.E46E|NR4A3_ENST00000330847.1_Silent_p.E57E	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	46					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				GCAGCACTGAGATCACGGCTA	0.562			T	EWSR1	extraskeletal myxoid chondrosarcoma																																	uc004baf.1		NaN		Dom	yes		9	9q22	8013	T	"""nuclear receptor subfamily 4, group A, member 3 (NOR1)"""			M	EWSR1		extraskeletal myxoid chondrosarcoma	EWSR1/NR4A3(140)|TAF15/NR4A3(33)	0				bone(173)	173						c.(136-138)GAG>GAA		nuclear receptor subfamily 4, group A, member 3							157.0	123.0	134.0					9																	102590462		2203	4300	6503	SO:0001819	synonymous_variant	8013				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding	g.chr9:102590462G>A	U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"""Nuclear hormone receptors"""	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.138G>A	9.37:g.102590462G>A						NR4A3_uc004bae.2_Silent_p.E46E|NR4A3_uc004bag.1_Silent_p.E46E|NR4A3_uc004bai.2_Silent_p.E57E	p.E46E	NM_006981	NP_008912	Q92570	NR4A3_HUMAN			3	867	+		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)	46					A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	Silent	SNP	ENST00000395097.2	37	c.138G>A	CCDS6743.1																																																																																				0.562	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1				19	39	0	0	0	0.012319	0	19	39		
FKBP15	23307	broad.mit.edu	37	9	115931520	115931520	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr9:115931520G>A	ENST00000238256.3	-	26	3586	c.3469C>T	c.(3469-3471)Cat>Tat	p.H1157Y		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	1157					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						CGCTGGGAATGATGGCTGGGT	0.542																																						uc004bgs.2		NaN																	0				ovary(3)	3						c.(3469-3471)CAT>TAT		FK506 binding protein 15, 133kDa							71.0	75.0	74.0					9																	115931520		2123	4233	6356	SO:0001583	missense	23307				endocytosis|protein folding	axon|early endosome	actin binding	g.chr9:115931520G>A	AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23397	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 76"", ""WASP and FKBP-like protein"""		"""KIAA0674"""	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.3469C>T	9.37:g.115931520G>A	ENSP00000238256:p.His1157Tyr					FKBP15_uc004bgr.2_Missense_Mutation_p.H594Y|FKBP15_uc011lxc.1_Missense_Mutation_p.H738Y|FKBP15_uc011lxd.1_Missense_Mutation_p.H1089Y	p.H1157Y	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN			26	3587	-			1157					Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Missense_Mutation	SNP	ENST00000238256.3	37	c.3469C>T	CCDS48007.1	.	.	.	.	.	.	.	.	.	.	G	8.227	0.803713	0.16467	.	.	ENSG00000119321	ENST00000446284;ENST00000238256	T;T	0.22945	1.93;1.94	4.67	-7.5	0.01351	.	.	.	.	.	T	0.08447	0.0210	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.31194	-0.9952	9	0.19147	T	0.46	14.9787	3.7031	0.08390	0.1815:0.4396:0.2833:0.0957	.	738;1157	B4DVS2;Q5T1M5	.;FKB15_HUMAN	Y	1182;1157	ENSP00000416158:H1182Y;ENSP00000238256:H1157Y	ENSP00000238256:H1157Y	H	-	1	0	FKBP15	114971341	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.900000	0.04097	-1.081000	0.03105	-0.218000	0.12543	CAT		0.542	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_015258		13	15	0	0	0	0.013537	0	13	15		
TRIM32	22954	broad.mit.edu	37	9	119461874	119461874	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr9:119461874G>A	ENST00000450136.1	+	2	2014	c.1853G>A	c.(1852-1854)tGt>tAt	p.C618Y	ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000361209.2_Intron|TRIM32_ENST00000373983.2_Missense_Mutation_p.C618Y	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	618					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of proteolysis (GO:0045862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of type I interferon production (GO:0032479)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|striated muscle myosin thick filament (GO:0005863)	ligase activity (GO:0016874)|myosin binding (GO:0017022)|protein self-association (GO:0043621)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|translation initiation factor binding (GO:0031369)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						GGACTTACCTGTCCGGTGGGC	0.507																																					Esophageal Squamous(92;212 1916 19711 26951)	uc004bjx.2		NaN																	0				central_nervous_system(2)|kidney(1)	3						c.(1852-1854)TGT>TAT		tripartite motif-containing 32							96.0	93.0	94.0					9																	119461874		2203	4300	6503	SO:0001583	missense	22954	Bardet-Biedl_syndrome			fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:119461874G>A	U18543	CCDS6817.1	9q33.1	2014-09-17	2011-01-25		ENSG00000119401	ENSG00000119401		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16380	protein-coding gene	gene with protein product		602290	"""limb girdle muscular dystrophy 2H (autosomal recessive)"", ""tripartite motif-containing 32"""	LGMD2H		11331580, 7778269, 16606853	Standard	NM_001099679		Approved	HT2A, TATIP, BBS11	uc004bjx.2	Q13049	OTTHUMG00000021026	ENST00000450136.1:c.1853G>A	9.37:g.119461874G>A	ENSP00000408292:p.Cys618Tyr					ASTN2_uc004bjr.1_Intron|ASTN2_uc004bjs.1_Intron|ASTN2_uc004bjt.1_Intron|TRIM32_uc004bjw.2_Missense_Mutation_p.C618Y	p.C618Y	NM_001099679	NP_001093149	Q13049	TRI32_HUMAN			2	2011	+			618			NHL 5.		Q9NQP8	Missense_Mutation	SNP	ENST00000450136.1	37	c.1853G>A	CCDS6817.1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.869837	0.33069	.	.	ENSG00000119401	ENST00000450136;ENST00000373983	T;T	0.70869	-0.52;-0.52	5.69	5.69	0.88448	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.75102	0.3804	N	0.20530	0.585	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.72991	-0.4123	9	.	.	.	-9.2058	19.8228	0.96604	0.0:0.0:1.0:0.0	.	618	Q13049	TRI32_HUMAN	Y	618	ENSP00000408292:C618Y;ENSP00000363095:C618Y	.	C	+	2	0	TRIM32	118501695	1.000000	0.71417	1.000000	0.80357	0.222000	0.24845	9.434000	0.97515	2.668000	0.90789	0.650000	0.86243	TGT		0.507	TRIM32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055466.2		NM_012210		18	38	0	0	0	0.006122	0	18	38		
WDR34	89891	broad.mit.edu	37	9	131396647	131396647	+	Silent	SNP	G	G	A	rs146817584		TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr9:131396647G>A	ENST00000372715.2	-	8	1290	c.1230C>T	c.(1228-1230)agC>agT	p.S410S	WDR34_ENST00000483181.1_5'Flank	NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	410			S -> I (in SRTD11). {ECO:0000269|PubMed:24183451}.			axoneme (GO:0005930)|centriole (GO:0005814)|ciliary basal body (GO:0036064)				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						CAGTCCCAGCGCTCAGGAAGA	0.627																																						uc004bvq.1		NaN																	0				central_nervous_system(2)|skin(1)	3						c.(1228-1230)AGC>AGT		WD repeat domain 34		G		1,4405	2.1+/-5.4	0,1,2202	61.0	65.0	64.0		1230	-5.0	0.2	9	dbSNP_134	64	0,8600		0,0,4300	no	coding-synonymous	WDR34	NM_052844.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		410/537	131396647	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	89891					cytoplasm		g.chr9:131396647G>A	BC011874	CCDS6906.2	9q34.11	2013-11-15	2013-02-19	2013-02-19	ENSG00000119333	ENSG00000119333		"""WD repeat domain containing"""	28296	protein-coding gene	gene with protein product		613363				19521662, 21953912, 24183451	Standard	NM_052844		Approved	DIC5, MGC20486, bA216B9.3, FAP133	uc004bvq.1	Q96EX3	OTTHUMG00000020750	ENST00000372715.2:c.1230C>T	9.37:g.131396647G>A						WDR34_uc004bvs.1_Silent_p.S401S|WDR34_uc004bvr.1_Silent_p.S382S	p.S410S	NM_052844	NP_443076	Q96EX3	WDR34_HUMAN			8	1354	-			410			WD 3.		Q5VXV4|Q9BV46	Silent	SNP	ENST00000372715.2	37	c.1230C>T	CCDS6906.2																																																																																				0.627	WDR34-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054463.1		NM_052844		15	34	0	0	0	0.020292	0	15	34		
NUP188	23511	broad.mit.edu	37	9	131768567	131768567	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr9:131768567C>G	ENST00000372577.2	+	43	5014	c.4993C>G	c.(4993-4995)Cag>Gag	p.Q1665E	RP11-167N5.5_ENST00000594418.1_lincRNA	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1665					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)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GCTCATCTCTCAGGCGATGCG	0.572											OREG0019528	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004bws.1		NaN																	0				ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						c.(4993-4995)CAG>GAG		nucleoporin 188kDa							120.0	118.0	119.0					9																	131768567		2203	4300	6503	SO:0001583	missense	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131768567C>G	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.4993C>G	9.37:g.131768567C>G	ENSP00000361658:p.Gln1665Glu		OREG0019528	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1590		p.Q1665E	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN			43	5015	+			1665					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	c.4993C>G	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.017711	0.93404	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.37058	1.22	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.57636	0.2067	M	0.64997	1.995	0.80722	D	1	P	0.49447	0.924	P	0.62298	0.9	T	0.57452	-0.7809	10	0.62326	D	0.03	-19.9331	18.4285	0.90617	0.0:1.0:0.0:0.0	.	1665	Q5SRE5	NU188_HUMAN	E	1554;1665	ENSP00000361658:Q1665E	ENSP00000349125:Q1554E	Q	+	1	0	NUP188	130808388	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.298000	0.78815	2.586000	0.87340	0.561000	0.74099	CAG		0.572	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2				35	81	0	0	0	0.013726	0	35	81		
GRIN1	2902	broad.mit.edu	37	9	140057342	140057342	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr9:140057342G>C	ENST00000371561.3	+	15	3155	c.2058G>C	c.(2056-2058)caG>caC	p.Q686H	GRIN1_ENST00000371546.4_Missense_Mutation_p.Q707H|GRIN1_ENST00000315048.3_Missense_Mutation_p.Q686H|GRIN1_ENST00000371553.3_Missense_Mutation_p.Q707H|GRIN1_ENST00000371555.4_Missense_Mutation_p.Q707H|GRIN1_ENST00000371559.4_Missense_Mutation_p.Q686H|GRIN1_ENST00000371560.3_Missense_Mutation_p.Q707H|GRIN1_ENST00000350902.5_Missense_Mutation_p.Q686H|GRIN1_ENST00000371550.4_Missense_Mutation_p.Q686H|GRIN1_ENST00000471122.1_3'UTR	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	686					adult locomotory behavior (GO:0008344)|calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular calcium ion homeostasis (GO:0006874)|cellular response to manganese ion (GO:0071287)|cerebral cortex development (GO:0021987)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|male mating behavior (GO:0060179)|negative regulation of neuron apoptotic process (GO:0043524)|olfactory learning (GO:0008355)|pons maturation (GO:0021586)|positive regulation of apoptotic process (GO:0043065)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|propylene metabolic process (GO:0018964)|protein tetramerization (GO:0051262)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange (GO:0043576)|regulation of synapse assembly (GO:0051963)|respiratory gaseous exchange (GO:0007585)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to morphine (GO:0043278)|rhythmic process (GO:0048511)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic cleft (GO:0043083)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate binding (GO:0016595)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|voltage-gated cation channel activity (GO:0022843)			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CGGTGAAGCAGAGCTCCGTGG	0.637																																					NSCLC(113;717 1653 2089 20474 37618)	uc004clk.2		NaN																	0				skin(1)	1						c.(2056-2058)CAG>CAC		NMDA receptor 1 isoform NR1-3 precursor	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)						31.0	31.0	31.0					9																	140057342		2200	4297	6497	SO:0001583	missense	2902				ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding	g.chr9:140057342G>C		CCDS7031.1, CCDS7032.1, CCDS43910.1, CCDS55354.1, CCDS55355.1	9q34.3	2013-01-11			ENSG00000176884	ENSG00000176884		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4584	protein-coding gene	gene with protein product		138249	"""N-methyl-D-aspartate receptor subunit NR1"""	NMDAR1		1350383	Standard	NM_000832		Approved	GluN1	uc004cln.3	Q05586	OTTHUMG00000020976	ENST00000371561.3:c.2058G>C	9.37:g.140057342G>C	ENSP00000360616:p.Gln686His					GRIN1_uc004cli.1_Missense_Mutation_p.Q361H|GRIN1_uc004clj.1_Missense_Mutation_p.Q683H|GRIN1_uc004cll.2_Missense_Mutation_p.Q686H|GRIN1_uc004clm.2_Missense_Mutation_p.Q686H|GRIN1_uc004cln.2_Missense_Mutation_p.Q704H|GRIN1_uc004clo.2_Missense_Mutation_p.Q704H	p.Q686H	NM_007327	NP_015566	Q05586	NMDZ1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	15	2388	+	all_cancers(76;0.0926)		686			Extracellular (Potential).		A6NLK7|A6NLR1|C9K0X1|P35437|Q12867|Q12868|Q5VSF3|Q5VSF4|Q5VSF5|Q5VSF6|Q5VSF7|Q5VSF8|Q9UPF8|Q9UPF9	Missense_Mutation	SNP	ENST00000371561.3	37	c.2058G>C	CCDS7031.1	.	.	.	.	.	.	.	.	.	.	g	17.84	3.487672	0.64074	.	.	ENSG00000176884	ENST00000371561;ENST00000315048;ENST00000350902;ENST00000371550;ENST00000371546;ENST00000371555;ENST00000371553;ENST00000371559;ENST00000371560	T;T;T;T;T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58	4.48	4.48	0.54585	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.42471	0.1204	N	0.01576	-0.805	0.58432	D	0.999999	D;B;D;D;D;D	0.76494	0.999;0.182;0.999;0.999;0.999;0.997	D;B;D;D;D;D	0.74674	0.984;0.202;0.973;0.973;0.984;0.956	T	0.56890	-0.7904	10	0.59425	D	0.04	.	9.6011	0.39605	0.0999:0.0:0.9001:0.0	.	707;707;686;686;686;686	Q5VSF4;Q5VSF5;Q05586-2;Q05586-3;Q05586;A2AVK2	.;.;.;.;NMDZ1_HUMAN;.	H	686;686;686;686;707;707;707;686;707	ENSP00000360616:Q686H;ENSP00000316696:Q686H;ENSP00000316915:Q686H;ENSP00000360605:Q686H;ENSP00000360601:Q707H;ENSP00000360610:Q707H;ENSP00000360608:Q707H;ENSP00000360614:Q686H;ENSP00000360615:Q707H	ENSP00000316696:Q686H	Q	+	3	2	GRIN1	139177163	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.808000	0.62583	2.060000	0.61445	0.450000	0.29827	CAG		0.637	GRIN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055267.3		NM_007327		3	5	0	0	0	0.004672	0	3	5		
EHMT1	79813	broad.mit.edu	37	9	140695358	140695358	+	Silent	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr9:140695358C>T	ENST00000460843.1	+	18	2661	c.2634C>T	c.(2632-2634)atC>atT	p.I878I		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	878					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CACCCATGATCTGGGCCACAG	0.587																																						uc011mfc.1		NaN																	0				breast(2)|pancreas(1)	3						c.(2632-2634)ATC>ATT		euchromatic histone-lysine N-methyltransferase 1							171.0	123.0	139.0					9																	140695358		2203	4300	6503	SO:0001819	synonymous_variant	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140695358C>T	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.2634C>T	9.37:g.140695358C>T							p.I878I	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	18	2671	+	all_cancers(76;0.164)		878			ANK 5.		B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Silent	SNP	ENST00000460843.1	37	c.2634C>T	CCDS7050.2																																																																																				0.587	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2		NM_024757		4	21	0	0	0	0.009096	0	4	21		
MXRA5	25878	broad.mit.edu	37	X	3238723	3238723	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chrX:3238723G>C	ENST00000217939.6	-	5	5157	c.5003C>G	c.(5002-5004)tCa>tGa	p.S1668*		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1668						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)				TGTTGTACTTGATAATCTTGG	0.438																																						uc004crg.3		NaN																	0				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(5002-5004)TCA>TGA		adlican precursor							169.0	161.0	164.0					X																	3238723		2203	4300	6503	SO:0001587	stop_gained	25878					extracellular region		g.chrX:3238723G>C	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.5003C>G	X.37:g.3238723G>C	ENSP00000217939:p.Ser1668*						p.S1668*	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			5	5160	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1668					Q6P1M7|Q9Y3Y8	Nonsense_Mutation	SNP	ENST00000217939.6	37	c.5003C>G	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	g	42	9.543363	0.99201	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	.	.	.	3.2	1.3	0.21679	.	1.679080	0.04444	U	0.371363	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	7.0139	0.24877	0.0979:0.0:0.7312:0.1709	.	.	.	.	X	1668	.	ENSP00000217939:S1668X	S	-	2	0	MXRA5	3248723	0.004000	0.15560	0.000000	0.03702	0.015000	0.08874	1.361000	0.34136	-0.032000	0.13758	0.431000	0.28591	TCA		0.438	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2		NM_015419		150	35	0	0	0	0.01441	0	150	35		
UBA1	7317	broad.mit.edu	37	X	47062396	47062396	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chrX:47062396G>A	ENST00000335972.6	+	12	1471	c.1288G>A	c.(1288-1290)Gag>Aag	p.E430K	UBA1_ENST00000377351.4_Missense_Mutation_p.E430K|UBA1_ENST00000490869.1_3'UTR|INE1_ENST00000456273.1_RNA	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	430	2 approximate repeats.				cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGATGCCCTTGAGTGTCTCCC	0.582																																						uc004dhj.3		NaN																	0				ovary(1)	1						c.(1288-1290)GAG>AAG		ubiquitin-activating enzyme E1							70.0	59.0	62.0					X																	47062396		2203	4300	6503	SO:0001583	missense	7317				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity	g.chrX:47062396G>A	AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"""Ubiquitin-like modifier activating enzymes"""	12469	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog (yeast)"", ""POC20 centriolar protein homolog (Chlamydomonas)"""	314370	"""ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)"", ""ubiquitin-activating enzyme E1"""	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.1288G>A	X.37:g.47062396G>A	ENSP00000338413:p.Glu430Lys					UBA1_uc004dhk.3_Missense_Mutation_p.E430K|INE1_uc004dhl.2_5'Flank	p.E430K	NM_153280	NP_695012	P22314	UBA1_HUMAN			12	1439	+			430			2 approximate repeats.		Q5JRR8|Q96E13	Missense_Mutation	SNP	ENST00000335972.6	37	c.1288G>A	CCDS14275.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.008759	0.93346	.	.	ENSG00000130985	ENST00000377351;ENST00000335972	T;T	0.19532	2.14;2.14	5.42	5.42	0.78866	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.52058	0.1711	M	0.84511	2.7	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.59532	-0.7437	10	0.87932	D	0	-28.3526	17.144	0.86761	0.0:0.0:1.0:0.0	.	430	P22314	UBA1_HUMAN	K	430	ENSP00000366568:E430K;ENSP00000338413:E430K	ENSP00000338413:E430K	E	+	1	0	UBA1	46947340	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.765000	0.98953	2.400000	0.81607	0.597000	0.82753	GAG		0.582	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056389.1		NM_003334		39	5	0	0	0	0.027894	0	39	5		
KCND1	3750	broad.mit.edu	37	X	48825780	48825780	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chrX:48825780A>G	ENST00000218176.3	-	1	2196	c.899T>C	c.(898-900)tTt>tCt	p.F300S	KCND1_ENST00000376477.1_5'Flank	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	300					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24					Dalfampridine(DB06637)	GAAGATGCGAAACACCCGGAA	0.552																																						uc004dlx.1		NaN																	0				ovary(2)|lung(1)	3						c.(898-900)TTT>TCT		potassium voltage-gated channel, Shal-related							89.0	67.0	75.0					X																	48825780		2203	4300	6503	SO:0001583	missense	3750					voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity	g.chrX:48825780A>G	AF166003	CCDS14314.1	Xp11.23	2012-07-05			ENSG00000102057	ENSG00000102057		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6237	protein-coding gene	gene with protein product		300281				10729221, 16382104	Standard	NM_004979		Approved	Kv4.1	uc004dlx.1	Q9NSA2	OTTHUMG00000024127	ENST00000218176.3:c.899T>C	X.37:g.48825780A>G	ENSP00000218176:p.Phe300Ser					KCND1_uc004dlw.1_5'Flank	p.F300S	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN			1	2472	-			300			Helical; Voltage-sensor; Name=Segment S4; (Potential).		A6NEF1|B2RCG0|O75671	Missense_Mutation	SNP	ENST00000218176.3	37	c.899T>C	CCDS14314.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.148823	0.78001	.	.	ENSG00000102057	ENST00000218176	D	0.98419	-4.92	5.46	5.46	0.80206	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99124	0.9698	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99376	1.0921	10	0.87932	D	0	.	13.5212	0.61569	1.0:0.0:0.0:0.0	.	300	Q9NSA2	KCND1_HUMAN	S	300	ENSP00000218176:F300S	ENSP00000218176:F300S	F	-	2	0	KCND1	48710724	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.339000	0.96797	1.836000	0.53414	0.481000	0.45027	TTT		0.552	KCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060774.1		NM_004979		10	15	0	0	0	0.008291	0	10	15		
TRO	7216	broad.mit.edu	37	X	54955643	54955643	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chrX:54955643C>G	ENST00000173898.7	+	12	2598	c.2486C>G	c.(2485-2487)tCt>tGt	p.S829C	TRO_ENST00000375022.4_Intron|TRO_ENST00000319167.8_Intron|TRO_ENST00000420798.2_Missense_Mutation_p.S360C|SNORA11_ENST00000408823.1_RNA|TRO_ENST00000375041.2_Missense_Mutation_p.S432C|TRO_ENST00000399736.1_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	829	62 X 10 AA approximate tandem repeats.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GGAGTCAGCTCTAGTTTTAGT	0.547																																						uc004dtq.2		NaN																	0				ovary(1)	1						c.(2485-2487)TCT>TGT		trophinin isoform 5							48.0	44.0	46.0					X																	54955643		2195	4282	6477	SO:0001583	missense	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54955643C>G	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.2486C>G	X.37:g.54955643C>G	ENSP00000173898:p.Ser829Cys					TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_Intron|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Missense_Mutation_p.S360C|TRO_uc004dtw.2_Missense_Mutation_p.S432C|TRO_uc004dtx.2_Missense_Mutation_p.S212C	p.S829C	NM_001039705	NP_001034794	Q12816	TROP_HUMAN			12	2593	+			829			6; approximate.|62 X 10 AA approximate tandem repeats.		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	ENST00000173898.7	37	c.2486C>G	CCDS43959.1	.	.	.	.	.	.	.	.	.	.	C	1.312	-0.601769	0.03744	.	.	ENSG00000067445	ENST00000173898;ENST00000420798;ENST00000375041	T;T;T	0.10099	2.91;2.91;2.91	2.65	-1.92	0.07618	.	.	.	.	.	T	0.05410	0.0143	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.36986	-0.9725	9	0.59425	D	0.04	.	3.849	0.08946	0.0:0.2088:0.3861:0.4051	.	432;829	B1AKE9;Q12816	.;TROP_HUMAN	C	829;360;432	ENSP00000173898:S829C;ENSP00000405126:S360C;ENSP00000364181:S432C	ENSP00000173898:S829C	S	+	2	0	TRO	54972368	0.000000	0.05858	0.016000	0.15963	0.030000	0.12068	-0.263000	0.08670	-0.519000	0.06444	0.483000	0.47432	TCT		0.547	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3		NM_016157		41	6	0	0	0	0.023175	0	41	6		
RPS4X	6191	broad.mit.edu	37	X	71493144	71493144	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chrX:71493144C>T	ENST00000316084.6	-	6	732	c.628G>A	c.(628-630)Gtg>Atg	p.V210M	RPS4X_ENST00000486733.1_5'UTR	NM_001007.4	NP_000998.1	P62701	RS4X_HUMAN	ribosomal protein S4, X-linked	210					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of cell proliferation (GO:0008284)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			NS(1)|large_intestine(1)	2	Renal(35;0.156)					GCATCTTTCACGTGAACCACG	0.463																																						uc004ear.2		NaN																	0					0						c.(628-630)GTG>ATG		ribosomal protein S4, X-linked X isoform							65.0	52.0	56.0					X																	71493144		2203	4300	6503	SO:0001583	missense	6191				endocrine pancreas development|positive regulation of cell proliferation|positive regulation of translation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|polysome	rRNA binding|structural constituent of ribosome	g.chrX:71493144C>T		CCDS14418.1	Xq13.1	2011-04-05			ENSG00000198034	ENSG00000198034		"""S ribosomal proteins"""	10424	protein-coding gene	gene with protein product	"""40S ribosomal protein S4, X isoform"", ""ribosomal protein S4X isoform"", ""single-copy abundant mRNA"", ""cell cycle gene 2"""	312760				1795030, 8139551	Standard	NM_001007		Approved	DXS306, CCG2, SCAR, SCR10, FLJ40595, RPS4, S4	uc004ear.3	P62701	OTTHUMG00000021813	ENST00000316084.6:c.628G>A	X.37:g.71493144C>T	ENSP00000362744:p.Val210Met						p.V210M	NM_001007	NP_000998	P62701	RS4X_HUMAN			6	724	-	Renal(35;0.156)		210					P12631|P12750|P27576|P55831|Q14727|Q6IPY4	Missense_Mutation	SNP	ENST00000316084.6	37	c.628G>A	CCDS14418.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156681	0.78114	.	.	ENSG00000198034	ENST00000316084	T	0.27256	1.68	4.52	4.52	0.55395	KOW (1);	0.000000	0.64402	D	0.000003	T	0.39517	0.1081	M	0.72353	2.195	0.80722	D	1	D	0.65815	0.995	P	0.51355	0.667	T	0.38222	-0.9671	10	0.54805	T	0.06	.	14.0455	0.64702	0.0:1.0:0.0:0.0	.	210	P62701	RS4X_HUMAN	M	210	ENSP00000362744:V210M	ENSP00000362744:V210M	V	-	1	0	RPS4X	71409869	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	7.642000	0.83385	1.975000	0.57531	0.600000	0.82982	GTG		0.463	RPS4X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057188.1		NM_001007		34	3	0	0	0	0.015359	0	34	3		
KIAA1210	57481	broad.mit.edu	37	X	118228014	118228014	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chrX:118228014C>G	ENST00000402510.2	-	9	1311	c.1312G>C	c.(1312-1314)Gag>Cag	p.E438Q		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	438										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						AGGGATCCCTCTAAAATACCC	0.483																																						uc004era.3		NaN																	0				ovary(4)|skin(1)	5						c.(1312-1314)GAG>CAG		hypothetical protein LOC57481							87.0	77.0	80.0					X																	118228014		1869	4098	5967	SO:0001583	missense	57481							g.chrX:118228014C>G	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.1312G>C	X.37:g.118228014C>G	ENSP00000384670:p.Glu438Gln						p.E438Q	NM_020721	NP_065772	Q9ULL0	K1210_HUMAN			9	1312	-			438					B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	c.1312G>C	CCDS48156.1	.	.	.	.	.	.	.	.	.	.	C	9.504	1.104031	0.20632	.	.	ENSG00000250423	ENST00000402510	T	0.10960	2.82	3.31	0.376	0.16193	.	.	.	.	.	T	0.08179	0.0204	N	0.08118	0	0.09310	N	1	D	0.65815	0.995	P	0.58721	0.844	T	0.23297	-1.0192	9	0.16420	T	0.52	.	3.1743	0.06562	0.2074:0.5314:0.0:0.2612	.	438	Q9ULL0	K1210_HUMAN	Q	438	ENSP00000384670:E438Q	ENSP00000384670:E438Q	E	-	1	0	RP13-347D8.6	118112042	0.034000	0.19679	0.000000	0.03702	0.021000	0.10359	0.136000	0.15974	-0.178000	0.10672	0.590000	0.80494	GAG		0.483	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2		NM_020721		32	5	0	0	0	0.008361	0	32	5		
ELF3	1999	broad.mit.edu	37	1	201980282	201980282	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08			G	-	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:201980282delG	ENST00000359651.3	+	1	3210	c.18delG	c.(16-18)gagfs	p.E6fs	ELF3_ENST00000495848.1_3'UTR|ELF3_ENST00000367284.5_Frame_Shift_Del_p.E6fs|ELF3_ENST00000367283.3_Frame_Shift_Del_p.E6fs|RP11-510N19.5_ENST00000504773.1_RNA|RP11-465N4.4_ENST00000419190.1_RNA					E74-like factor 3 (ets domain transcription factor, epithelial-specific )											breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						CAACCTGTGAGATTAGCAACA	0.567																																						uc001gxg.3		NaN																	0					0						c.(16-18)GAGfs		E74-like factor 3 (ets domain transcription							125.0	115.0	118.0					1																	201980282		2203	4300	6503	SO:0001589	frameshift_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.chr1:201980282delG	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.18delG	1.37:g.201980282delG	ENSP00000352673:p.Glu6fs					ELF3_uc001gxi.3_Frame_Shift_Del_p.E6fs|ELF3_uc001gxh.3_Frame_Shift_Del_p.E6fs	p.E6fs	NM_004433	NP_004424	P78545	ELF3_HUMAN			1	3210	+			6						Frame_Shift_Del	DEL	ENST00000359651.3	37	c.18delG	CCDS1419.1																																																																																				0.567	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087360.1		NM_004433		23	22	NaN	NaN	NaN	NaN	NaN	23	22	---	---
OR2T3	343173	broad.mit.edu	37	1	248637607	248637607	+	Stop_Codon_Del	DEL	A	A	-			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:248637607delA	ENST00000359594.2	+	0	981					NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAAGAAAAGTAGTAAAGGGCA	0.502																																						uc001iel.1		NaN																	0				skin(1)	1						c.(955-957)TAGfs		olfactory receptor, family 2, subfamily T,							225.0	248.0	241.0					1																	248637607		2201	4298	6499	SO:0001567	stop_retained_variant	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248637607delA		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"""GPCR / Class A : Olfactory receptors"""	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	Exception_encountered	1.37:g.248637607delA	ENSP00000352604:p.*319Tyrext*?						p.*319fs	NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	956	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		319					B2RNJ1	Frame_Shift_Del	DEL	ENST00000359594.2	37	c.956delA	CCDS31117.1																																																																																				0.502	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1		NM_001005495		38	185	NaN	NaN	NaN	NaN	NaN	38	185	---	---
KRT19	3880	broad.mit.edu	37	17	39680110	39680111	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr17:39680110_39680111insA	ENST00000361566.3	-	6	1147_1148	c.1087_1088insT	c.(1087-1089)tacfs	p.Y363fs	KRT15_ENST00000393974.3_5'Flank|KRT15_ENST00000254043.3_5'Flank|KRT15_ENST00000393976.2_5'Flank	NM_002276.4	NP_002267.2	P08727	K1C19_HUMAN	keratin 19	363	Coil 2.|Necessary for interaction with PNN.|Rod.				cell differentiation involved in embryonic placenta development (GO:0060706)|response to estrogen (GO:0043627)|sarcomere organization (GO:0045214)|viral process (GO:0016032)	cell periphery (GO:0071944)|costamere (GO:0043034)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				GAGCCGCTGGTACTCCTGATTC	0.589																																						uc010wfs.1		NaN																	0				ovary(2)|lung(2)|breast(1)	5						c.(1576-1578)TACfs		junction plakoglobin																																				SO:0001589	frameshift_variant	3728				adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr17:39680110_39680111insA		CCDS11399.1	17q21.2	2013-06-20			ENSG00000171345	ENSG00000171345		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6436	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 19"", ""keratin, type I, 40-kd"", ""cytokeratin 19"", ""40-kDa keratin intermediate filament"""	148020				16831889	Standard	NM_002276		Approved	K19, CK19, K1CS, MGC15366		P08727	OTTHUMG00000133422	ENST00000361566.3:c.1088dupT	17.37:g.39680111_39680111dupA	ENSP00000355124:p.Tyr363fs					KRT15_uc002hxb.1_5'Flank|uc002hxc.1_5'Flank|KRT19_uc002hxd.3_Frame_Shift_Ins_p.Y363fs	p.Y526fs	NM_021991	NP_068831	P14923	PLAK_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)	9	1584_1585	-		Breast(137;0.000162)	Error:Variant_position_missing_in_P14923_after_alignment					B2R874|Q5XG83|Q6NW33|Q7L5M9|Q96A53|Q96FV1|Q9BYF9|Q9P1Y4	Frame_Shift_Ins	INS	ENST00000361566.3	37	c.1576_1577insT	CCDS11399.1																																																																																				0.589	KRT19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257285.1		NM_002276		13	61	NaN	NaN	NaN	NaN	NaN	13	61	---	---
FAT1	2195	broad.mit.edu	37	4	187539870	187539870	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr4:187539870delC	ENST00000441802.2	-	10	8079	c.7870delG	c.(7870-7872)gatfs	p.D2624fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2624	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GAGCCCTCATCGGCATCACTT	0.443										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NaN																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(7870-7872)GATfs		FAT tumor suppressor 1 precursor							63.0	59.0	60.0					4																	187539870		1948	4127	6075	SO:0001589	frameshift_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187539870delC	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7870delG	4.37:g.187539870delC	ENSP00000406229:p.Asp2624fs	HNSCC(5;0.00058)					p.D2624fs	NM_005245	NP_005236	Q14517	FAT1_HUMAN			10	8058	-			2624			Extracellular (Potential).|Cadherin 24.			Frame_Shift_Del	DEL	ENST00000441802.2	37	c.7870delG	CCDS47177.1																																																																																				0.443	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3		NM_005245		11	29	NaN	NaN	NaN	NaN	NaN	11	29	---	---
FOXQ1	94234	broad.mit.edu	37	6	1313536	1313537	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08			-	A	-	-		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr6:1313536_1313537insA	ENST00000296839.2	+	1	862_863	c.597_598insA	c.(598-600)agcfs	p.S200fs		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	200					hair follicle morphogenesis (GO:0031069)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		TCAACCCCAACAGCGAGTACAC	0.718																																						uc003mtl.3		NaN																	0					0						c.(595-600)AACAGCfs		forkhead box Q1																																				SO:0001589	frameshift_variant	94234				DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding	g.chr6:1313536_1313537insA	AF153341	CCDS4471.1	6p25	2008-02-05			ENSG00000164379	ENSG00000164379		"""Forkhead boxes"""	20951	protein-coding gene	gene with protein product		612788				11747606, 12011061	Standard	NM_033260		Approved	HFH1	uc003mtl.4	Q9C009	OTTHUMG00000016160	ENST00000296839.2:c.598dupA	6.37:g.1313537_1313537dupA	ENSP00000296839:p.Ser200fs						p.N199fs	NM_033260	NP_150285	Q9C009	FOXQ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)	1	862_863	+	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)	199_200			Fork-head.		Q9NS06	Frame_Shift_Ins	INS	ENST00000296839.2	37	c.597_598insA	CCDS4471.1																																																																																				0.718	FOXQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043410.1		NM_033260		23	7	NaN	NaN	NaN	NaN	NaN	23	7	---	---
MLLT4	4301	broad.mit.edu	37	6	168317781	168317782	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr6:168317781_168317782insT	ENST00000447894.2	+	19	2557_2558	c.2557_2558insT	c.(2557-2559)cttfs	p.L853fs	MLLT4_ENST00000392108.3_Frame_Shift_Ins_p.L853fs|MLLT4_ENST00000400822.3_Frame_Shift_Ins_p.L852fs|MLLT4_ENST00000392112.1_Frame_Shift_Ins_p.L837fs|MLLT4_ENST00000344191.4_Frame_Shift_Ins_p.L853fs|MLLT4_ENST00000351017.4_Frame_Shift_Ins_p.L860fs|MLLT4_ENST00000366806.2_Frame_Shift_Ins_p.L853fs			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	853	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AACGACTTTGCTTACCATGGAT	0.277			T	MLL	AL																																	uc003qwd.2		NaN		Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		0				ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5						c.(2554-2556)CTTfs		myeloid/lymphoid or mixed-lineage leukemia																																				SO:0001589	frameshift_variant	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168317781_168317782insT	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.2559dupT	6.37:g.168317783_168317783dupT	ENSP00000404595:p.Leu853fs					MLLT4_uc003qwb.1_Frame_Shift_Ins_p.L837fs|MLLT4_uc003qwc.1_Frame_Shift_Ins_p.L853fs|MLLT4_uc003qwg.1_Frame_Shift_Ins_p.L162fs	p.L852fs	NM_001040001	NP_001035090	P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	19	2696_2697	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	853			Dilute.		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Frame_Shift_Ins	INS	ENST00000447894.2	37	c.2554_2555insT																																																																																					0.277	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1		NM_005936		15	46	NaN	NaN	NaN	NaN	NaN	15	46	---	---
GPR107	57720	broad.mit.edu	37	9	132869776	132869779	+	Splice_Site	DEL	TCAA	TCAA	-			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr9:132869776_132869779delTCAA	ENST00000372406.1	+	14	1771_1774	c.1264_1267delTCAA	c.(1264-1269)tcaatc>tc	p.SI422fs	GPR107_ENST00000372410.3_Splice_Site_p.SI422fs|GPR107_ENST00000347136.6_Splice_Site_p.SI422fs	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	422						integral component of membrane (GO:0016021)				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				TATTTTTAGGTCAATCAGACATTT	0.407											OREG0019542	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004bze.2		NaN																	0				upper_aerodigestive_tract(1)	1						c.(1264-1269)TCAATCfs		G protein-coupled receptor 107 isoform 1																																				SO:0001630	splice_region_variant	57720					integral to membrane		g.chr9:132869776_132869779delTCAA	AF376725	CCDS35162.1, CCDS48041.1, CCDS48042.1	9q34.2	2014-01-30			ENSG00000148358	ENSG00000148358		"""GPCR / Unclassified : 7TM orphan receptors"""	17830	protein-coding gene	gene with protein product							Standard	NM_020960		Approved	KIAA1624, RP11-88G17, FLJ20998, LUSTR1	uc004bzd.2	Q5VW38	OTTHUMG00000020804	ENST00000372406.1:c.1263-1TCAA>-	9.37:g.132869776_132869779delTCAA			OREG0019542	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1598	GPR107_uc004bzb.2_Frame_Shift_Del_p.S233fs|GPR107_uc004bzc.3_RNA|GPR107_uc011mbx.1_Frame_Shift_Del_p.S422fs|GPR107_uc004bzd.2_Frame_Shift_Del_p.S422fs|uc004bzf.2_5'Flank	p.S422fs	NM_001136557	NP_001130029	Q5VW38	GP107_HUMAN			14	1491_1494	+		Ovarian(14;0.000531)	422_423			Helical; Name=5; (Potential).		A6NJ53|Q2TB81|Q5JPA3|Q5VW39|Q96T26|Q9H658|Q9HCE8	Frame_Shift_Del	DEL	ENST00000372406.1	37	c.1264_1267delTCAA	CCDS48041.1																																																																																				0.407	GPR107-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054643.2			Frame_Shift_Del	15	11	NaN	NaN	NaN	NaN	NaN	15	11	---	---
LCN15	389812	broad.mit.edu	37	9	139658915	139658915	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr9:139658915delA	ENST00000316144.5	-	1	50	c.26delT	c.(25-27)atcfs	p.I9fs	LCN15_ENST00000482511.1_5'UTR	NM_203347.1	NP_976222.1	Q6UWW0	LCN15_HUMAN	lipocalin 15	9					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	small molecule binding (GO:0036094)|transporter activity (GO:0005215)			endometrium(1)|lung(1)	2						CAGGGTCAGGATTGCGCCGAG	0.642																																						uc004cjd.2		NaN																	0					0						c.(25-27)ATCfs		lipocalin 15 precursor							59.0	50.0	53.0					9																	139658915		2201	4299	6500	SO:0001589	frameshift_variant	389812				lipid metabolic process	extracellular region	binding|transporter activity	g.chr9:139658915delA		CCDS7006.1	9q34.3	2011-10-24			ENSG00000177984	ENSG00000177984		"""Lipocalins"""	33777	protein-coding gene	gene with protein product							Standard	NM_203347		Approved	UNQ2541, PRO6093	uc004cjd.3	Q6UWW0	OTTHUMG00000020943	ENST00000316144.5:c.26delT	9.37:g.139658915delA	ENSP00000313833:p.Ile9fs						p.I9fs	NM_203347	NP_976222	Q6UWW0	LCN15_HUMAN			1	51	-			9						Frame_Shift_Del	DEL	ENST00000316144.5	37	c.26delT	CCDS7006.1																																																																																				0.642	LCN15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055114.2		NM_203347		7	7	NaN	NaN	NaN	NaN	NaN	7	7	---	---
